diff --git a/.gitignore b/.gitignore index c59e48f..de53738 100644 --- a/.gitignore +++ b/.gitignore @@ -13,36 +13,37 @@ # End of https://www.gitignore.io/api/visualstudiocode personal-config.ini -RDAS.CTKG/src/full_trial_data/ -RDAS.CTKG/src/chromedriver -RDAS.CTKG/src/ctgov_nctids.json -RDAS.CTKG/src/ctgov_webscraped_names.csv -RDAS.CTKG/src/all_queries/ -RDAS.CTKG/src/metamap_cond.txt -RDAS.CTKG/src/metamap_gard.txt -RDAS.CTKG/src/metamap_cond_out.json -RDAS.PAKG/src/ -RDAS.CTKG/src/*.csv -RDAS.CTKG/src/*.json -RDAS.CTKG/src/*.txt + +RDAS_CTKG/src/full_trial_data/ +RDAS_CTKG/src/chromedriver +RDAS_CTKG/src/ctgov_nctids.json +RDAS_CTKG/src/ctgov_webscraped_names.csv +RDAS_CTKG/src/all_queries/ +RDAS_CTKG/src/metamap_cond.txt +RDAS_CTKG/src/metamap_gard.txt +RDAS_CTKG/src/metamap_cond_out.json +RDAS_PAKG/src/ +RDAS_CTKG/src/*.csv +RDAS_CTKG/src/*.json +RDAS_CTKG/src/*.txt __pycache__/ -RDAS.CTKG/__pycache__/ -RDAS.GFKG/__pycache__/ -RDAS.PAKG/__pycache__/ -RDAS.PAKG/init_new.py -RDAS.PAKG/methods_new.py -RDAS.PAKG/archive/ -RDAS.GFKG/archive/ -RDAS.CTKG/__pycache__/ +RDAS_CTKG/__pycache__/ +RDAS_GFKG/__pycache__/ +RDAS_PAKG/__pycache__/ +RDAS_PAKG/init_new.py +RDAS_PAKG/methods_new.py +RDAS_PAKG/archive/ +RDAS_GFKG/archive/ +RDAS_CTKG/__pycache__/ email/__pycache__/ transfer/*.dump transfer/*.dump backup/*/*.dump migrated/*.dump approved/*.dump -RDAS.GFKG/src/**/**/*.csv -RDAS.GFKG/src/**/**/*.json -RDAS.GFKG/src/**/**/*.zip +RDAS_GFKG/src/**/**/*.csv +RDAS_GFKG/src/**/**/*.json +RDAS_GFKG/src/**/**/*.zip grant_2024/src/**/**/*.csv grant_2024/src/**/**/*.json crt/*.json @@ -75,22 +76,21 @@ add_participant.txt epifix.py grant_pipeline.txt result.json -RDAS.PAKG/test_affiliation.py -RDAS.PAKG/test_genereview.py +RDAS_PAKG/test_affiliation.py +RDAS_PAKG/test_genereview.py test_affiliation.txt logs/ terms_mapped.csv terms_unmapped.csv test_term_map.py -RDAS.CTKG/src/ids_to_add.csv -RDAS.CTKG/src/ids_to_update.csv - -RDAS.CTKG/src/ids_to_update_confirmed.csv +RDAS_CTKG/src/ids_to_add.csv +RDAS_CTKG/src/ids_to_update.csv +RDAS_CTKG/src/ids_to_update_confirmed.csv GARD_disease_classification.csv -gather_RDAS.GFKG_funding_remove.py -RDAS.GFKG_funding_rdas.csv +gather_grant_funding_remove.py +grant_funding_rdas.csv fixyear.py -fixRDAS.PAKGapi.py +fixpubmedapi.py config.ini Cluster 7.csv codecamp.py @@ -100,4 +100,11 @@ gather_grant_funding_remove.py grant_funding_rdas.csv thingforyanji.py deliverablesyanji -NCATS COLLABORATION \ No newline at end of file +NCATS COLLABORATION +allennlp +meta_annotate.py +genereviews_epi.csv +genereviews_epi_processed.csv +fix_pubtator_type.py +etc +RDAS_GFKG/src/FineTunned_Bert_2.pt diff --git a/.gitmodules b/.gitmodules old mode 100644 new mode 100755 index cd17b54..b7ae983 --- a/.gitmodules +++ b/.gitmodules @@ -1,6 +1,6 @@ -[submodule "/home/leadmandj/RDAS/pubmed/NaturalHistory4GARD"] - path = pubmed/NaturalHistory4GARD - url = git@github.com:ncats/NaturalHistory4GARD.git -[submodule "pubmed/epi4GARD"] - path = pubmed/epi4GARD +[submodule "RDAS_PAKG/epi4GARD"] + path = RDAS_PAKG/epi4GARD url = https://github.com/ncats/epi4GARD.git +[submodule "RDAS_PAKG/NaturalHistory4GARD"] + path = RDAS_PAKG/NaturalHistory4GARD + url = https://github.com/ncats/NaturalHistory4GARD.git diff --git a/AlertCypher.py b/AlertCypher.py old mode 100644 new mode 100755 diff --git a/RDAS.PAKG/NaturalHistory4GARD b/RDAS.PAKG/NaturalHistory4GARD deleted file mode 160000 index 9fff583..0000000 --- a/RDAS.PAKG/NaturalHistory4GARD +++ /dev/null @@ -1 +0,0 @@ -Subproject commit 9fff5839ac3f4838b22226edf3e22124e70e0fa3 diff --git a/RDAS.CTKG/init.py b/RDAS_CTKG/init.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.CTKG/init.py rename to RDAS_CTKG/init.py diff --git a/RDAS.CTKG/methods.py b/RDAS_CTKG/methods.py old mode 100644 new mode 100755 similarity index 88% rename from RDAS.CTKG/methods.py rename to RDAS_CTKG/methods.py index 16a913b..fd76aed --- a/RDAS.CTKG/methods.py +++ b/RDAS_CTKG/methods.py @@ -6,6 +6,7 @@ workspace = os.path.dirname(os.path.abspath(__file__)) print(workspace) sys.path.append(workspace) +sys.path.append('/home/leadmandj/RDAS/') from src import data_model as dm import requests import html @@ -23,7 +24,9 @@ nltk.download("punkt") from spacy.matcher import Matcher import spacy +import pandas as pd from fuzzywuzzy import fuzz +import ijson import string from transformers import AutoTokenizer, AutoModelForTokenClassification from transformers import pipeline @@ -402,7 +405,13 @@ def format_node_data(db,now,trial,node_type,NCTID,update=None,return_single=None elif trial: for field in fields: if field in trial: - value = trial[field] + if field == 'Phase': + if trial[field]: + value = "; ".join(trial[field]) + else: + value = "No Phase Specified" + else: + value = trial[field] node_data[field] = value node_data_list.append(node_data) @@ -827,6 +836,93 @@ def umls_to_gard(db,CUI): names.extend([gard_name]) return {'gard_id':data, 'gard_name':names} +def convert_semantic_types(type_list): + names = pd.read_csv(f'{sysvars.ct_files_path}SemanticTypes_2018AB.txt', delimiter='|', usecols=[0,2], names=['ABBR', 'FULLSEM']) + names = dict(zip(names['ABBR'], names['FULLSEM'])) + + temp = list() + for entry in type_list: + temp.append(names[entry]) + return temp + +def add_metamap_annotation(db, trial_info): + for k,v in trial_info.items(): + concept = v['term'] + score = v['score'] + types = v['types'] + nctid = v['nctid'] + db.run(f'MATCH (y:ClinicalTrial) WHERE y.NCTId = \'{nctid}\' MERGE (x:Trial_Annotation {{umls_cui:\'{k}\', umls_concept:\'{concept}\', umls_types:{types}}}) MERGE (y)-[:has_metamap_annotation {{umls_score:{score}}}]->(x)') + +def metamap_trial_annotation(db, trial_info, update_metamap=True): + INSTANCE = Submission(os.environ['METAMAP_EMAIL'],os.environ['METAMAP_KEY']) + INSTANCE.init_generic_batch('metamap','-J acab,amas,aapp,anab,antb,bact,bacs,bodm,comd,chem,clnd,cgab,diap,dsyn,elii,enzy,emod,fngs,gngm,hops,horm,imft,irda,inpo,inch,inpr,mobd,mosq,neop,nnon,nusq,orch,podg,phsu,rcpt,sosy,topp,virs,vita --JSONn') #--sldiID + INSTANCE.form['SingLinePMID'] = True + + trial_strs = [f"{k}|{normalize(v)}\n" for k,v in trial_info.items()] + with open(f'{sysvars.ct_files_path}metamap_trials.txt','w') as f: + f.writelines(trial_strs) + + # Update MetaMap results if required + if update_metamap: + if os.path.exists(f'{sysvars.ct_files_path}metamap_trials_out.json'): + os.remove(f'{sysvars.ct_files_path}metamap_trials_out.json') + print('INITIATING UPDATE... METAMAP_TRIALS_OUT.JSON REMOVED') + + # Run MetaMap and store results + if not os.path.exists(f'{sysvars.ct_files_path}metamap_trials_out.json'): + INSTANCE.set_batch_file(f'{sysvars.ct_files_path}metamap_trials.txt') #metamap_cond.txt + print('METAMAP JOB SUBMITTED') + response = INSTANCE.submit() + + try: + data = response.content.decode().replace("\n"," ") + data = re.search(r"({.+})", data).group(0) + + except Exception as e: + print(e) + data = None + + try: + data = json.loads(data) + with open(f'{sysvars.ct_files_path}metamap_trials_out.json','w') as f: + json.dump(data,f) + data = data['AllDocuments'] + + except Exception as e: + print(e) + + else: + print('USING PREVIOUSLY CREATED METAMAP_TRIALS_OUT.JSON') + with open(f'{sysvars.ct_files_path}metamap_trials_out.json','r') as f: + data = ijson.items(f,'AllDocuments.item') + + # Process MetaMap results and update database + for idx, entry in enumerate(data): + print(f'{str(idx)}') + utterances = entry['Document']['Utterances'][0] + utt_text = utterances['UttText'] + print(utt_text) + phrases = utterances['Phrases'] + + nctid = utterances['PMID'] + + meta_single_trial = dict() + cleaned_meta_single_trial = dict() + for phrase in phrases: + if len(phrase['Mappings']) > 0: + for phr in phrase['Mappings']: + meta_term = phr['MappingCandidates'][0]['CandidatePreferred'] + meta_cui = phr['MappingCandidates'][0]['CandidateCUI'] + meta_score = int(phr['MappingScore'][1:]) + meta_types = convert_semantic_types(phr['MappingCandidates'][0]['SemTypes']) + meta_single_trial[meta_cui] = {'term':meta_term.replace('\'',''), 'score':meta_score, 'types':meta_types, 'nctid':nctid} + + for k,v in meta_single_trial.items(): + if not k in cleaned_meta_single_trial: + cleaned_meta_single_trial[k] = v + + add_metamap_annotation(db, cleaned_meta_single_trial) + print('------------------------') @@ -872,7 +968,7 @@ def condition_map(db, update_metamap=True): print('RUNNING METAMAP') # Fetch conditions from the database that havent already been annotated and are not acronyms - res = db.run('MATCH (c:Condition) WHERE NOT EXISTS((c)--(:Annotation)) RETURN c.Condition as condition, ID(c) as cond_id') + res = db.run('MATCH (c:Condition) WHERE NOT EXISTS((c)--(:Condition_Annotation)) RETURN c.Condition as condition, ID(c) as cond_id') cond_strs = [f"{i['cond_id']}|{normalize(i['condition'])}\n" for i in res if not is_acronym(i['condition'])] # Write condition strings to a file for MetaMap processing @@ -937,8 +1033,6 @@ def condition_map(db, update_metamap=True): db.run(query) print('CREATING AND CONNECTING METAMAP ANNOTATIONS') - # Delete existing annotations DONT NEED, REMOVE STEP - #db.run('MATCH (x:Annotation) DETACH DELETE x') # Fetch relevant data from Condition nodes res = db.run('MATCH (x:Condition) WHERE x.METAMAP_OUTPUT IS NOT NULL RETURN ID(x) AS cond_id, x.METAMAP_OUTPUT AS cumls, x.METAMAP_PREFERRED_TERM AS prefs, x.FUZZY_SCORE as fuzz, x.METAMAP_SCORE as meta').data() @@ -963,10 +1057,10 @@ def condition_map(db, update_metamap=True): gard_ids = gard_ids['gard_id'] for gard_id in gard_ids: # Create Annotation nodes and connect to Condition and GARD nodes - db.run('MATCH (z:GARD) WHERE z.GardId = \"{gard_id}\" MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Annotation {{UMLS_CUI: \"{umls}\", UMLSPreferredName: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y) MERGE (z)<-[:mapped_to_gard]-(x)'.format(gard_id=gard_id,cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) + db.run('MATCH (z:GARD) WHERE z.GardId = \"{gard_id}\" MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Condition_Annotation {{UMLS_CUI: \"{umls}\", UMLSPreferredName: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y) MERGE (z)<-[:mapped_to_gard]-(x)'.format(gard_id=gard_id,cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) else: # Create Annotation nodes and connect to Condition nodes - db.run('MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Annotation {{UMLS_CUI: \"{umls}\", UMLSPreferredName: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y)'.format(cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) + db.run('MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Condition_Annotation {{UMLS_CUI: \"{umls}\", UMLSPreferredName: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y)'.format(cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) print('REMOVING UNNEEDED PROPERTIES') # Remove unnecessary properties from Condition nodes that were used during processing @@ -980,7 +1074,7 @@ def condition_map(db, update_metamap=True): for entry in res: cond_id = entry['cond_id'] cond = entry['cond'] - db.run('MATCH (x:GARD) WHERE toLower(x.GardName) = toLower(\"{cond}\") MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (z:Annotation {{UMLSPreferredName: \"{cond}\", MATCH_TYPE: \"STRING\"}}) MERGE (z)<-[:has_annotation]-(y) MERGE (x)<-[:mapped_to_gard]-(z)'.format(cond=cond,cond_id=cond_id)) + db.run('MATCH (x:GARD) WHERE toLower(x.GardName) = toLower(\"{cond}\") MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (z:Condition_Annotation {{UMLSPreferredName: \"{cond}\", MATCH_TYPE: \"STRING\"}}) MERGE (z)<-[:has_annotation]-(y) MERGE (x)<-[:mapped_to_gard]-(z)'.format(cond=cond,cond_id=cond_id)) diff --git a/RDAS.CTKG/src/data_model.py b/RDAS_CTKG/src/data_model.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.CTKG/src/data_model.py rename to RDAS_CTKG/src/data_model.py diff --git a/RDAS.CTKG/update.py b/RDAS_CTKG/update.py old mode 100644 new mode 100755 similarity index 95% rename from RDAS.CTKG/update.py rename to RDAS_CTKG/update.py index 1ce3a8e..4fb0517 --- a/RDAS.CTKG/update.py +++ b/RDAS_CTKG/update.py @@ -2,6 +2,7 @@ import sys workspace = os.path.dirname(os.path.abspath(__file__)) sys.path.append(workspace) +sys.path.append('/home/leadmandj/RDAS/') from AlertCypher import AlertCypher from src import data_model as dm from datetime import date,datetime @@ -168,6 +169,7 @@ def main(): # Add brand new trials print('Adding non existent trials in database') + metamap_trials = dict() for idx,ID in enumerate(ids_to_add): if idx < clinical_add_progress: continue @@ -176,6 +178,8 @@ def main(): print(idx, ID) trial_info = rdas.extract_fields(ID) + metamap_trials[ID] = trial_info['OfficialTitle'] + ' ' + trial_info['BriefSummary'] + if trial_info: print(f'Adding {ID}...') for node_type in dm.node_names: @@ -183,6 +187,9 @@ def main(): else: print('Error in add for finding full trial data for ' + ID) + # Generates MetaMap Annotations for all of the new Clinical Trials + rdas.metamap_trial_annotation(db, metamap_trials) + # Update trials already in the database print('Updating trials already in database') # Starts a new file if file exists but in_progress is false @@ -211,6 +218,7 @@ def main(): wr = csv.writer(f,delimiter="\n") wr.writerow([ID]) + metamap_trials = dict() for idx,ID in enumerate(required_updates_nctids): if idx < clinical_update_progress: continue @@ -218,17 +226,18 @@ def main(): print(idx, ID) trial_info = rdas.extract_fields(ID) + metamap_trials[ID] = trial_info['OfficialTitle'] + ' ' + trial_info['BriefSummary'] + if trial_info: for node_type in dm.node_names: data_string = rdas.format_node_data(db,today,trial_info,node_type,ID,update=True) else: print('Error in add for finding full trial data for ' + ID) - - #BELOW CREATES HISTORY NODE, POSTPONED FOR NOW - #create_history_query = 'MATCH (x:ClinicalTrial {{NCTId:\"{ID}\"}}) CREATE (y:History) SET y=properties(x) CREATE (z:ClinicalTrial {data_string}) MERGE (y)<-[:updated_from]-(x) SET x=properties(z) SET x.DateCreatedRDAS=\"{today}\" SET x.LastUpdatedRDAS=\"{today}\" DELETE z return y'.format(ID=ID,data_string=data_string,today=today) #db.run(create_history_query) + + rdas.metamap_trial_annotation(db, metamap_trials) # Perform condition mapping if clinical_current_step == '': diff --git a/RDAS.GARD/init.py b/RDAS_GARD/init.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/init.py rename to RDAS_GARD/init.py diff --git a/RDAS.GARD/methods.py b/RDAS_GARD/methods.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/methods.py rename to RDAS_GARD/methods.py diff --git a/RDAS.GARD/src/GARD.csv b/RDAS_GARD/src/GARD.csv old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/GARD.csv rename to RDAS_GARD/src/GARD.csv diff --git a/RDAS.GARD/src/GARD_classification.csv b/RDAS_GARD/src/GARD_classification.csv old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/GARD_classification.csv rename to RDAS_GARD/src/GARD_classification.csv diff --git a/RDAS.GARD/src/GARD_genes.csv b/RDAS_GARD/src/GARD_genes.csv old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/GARD_genes.csv rename to RDAS_GARD/src/GARD_genes.csv diff --git a/RDAS.GARD/src/GARD_phenotypes.csv b/RDAS_GARD/src/GARD_phenotypes.csv old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/GARD_phenotypes.csv rename to RDAS_GARD/src/GARD_phenotypes.csv diff --git a/RDAS.GARD/src/GARD_xrefs.csv b/RDAS_GARD/src/GARD_xrefs.csv old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/GARD_xrefs.csv rename to RDAS_GARD/src/GARD_xrefs.csv diff --git a/RDAS.GARD/src/README.md b/RDAS_GARD/src/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/README.md rename to RDAS_GARD/src/README.md diff --git a/RDAS.GARD/src/metamap_gard.txt b/RDAS_GARD/src/metamap_gard.txt old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/metamap_gard.txt rename to RDAS_GARD/src/metamap_gard.txt diff --git a/RDAS.GARD/src/metamap_gard_out.json b/RDAS_GARD/src/metamap_gard_out.json old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GARD/src/metamap_gard_out.json rename to RDAS_GARD/src/metamap_gard_out.json diff --git a/RDAS.GFKG/GardNameExtractor/GardNameExtractor.ipynb b/RDAS_GFKG/GardNameExtractor/GardNameExtractor.ipynb old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/GardNameExtractor/GardNameExtractor.ipynb rename to RDAS_GFKG/GardNameExtractor/GardNameExtractor.ipynb diff --git a/RDAS.GFKG/GardNameExtractor/GardNameExtractor.py b/RDAS_GFKG/GardNameExtractor/GardNameExtractor.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/GardNameExtractor/GardNameExtractor.py rename to RDAS_GFKG/GardNameExtractor/GardNameExtractor.py diff --git a/RDAS.GFKG/GardNameExtractor/GardNamePreprocessor.py b/RDAS_GFKG/GardNameExtractor/GardNamePreprocessor.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/GardNameExtractor/GardNamePreprocessor.py rename to RDAS_GFKG/GardNameExtractor/GardNamePreprocessor.py diff --git a/RDAS_GFKG/J_GARD_master.csv b/RDAS_GFKG/J_GARD_master.csv new file mode 100644 index 0000000..4e8ce7b --- /dev/null +++ b/RDAS_GFKG/J_GARD_master.csv @@ -0,0 +1,16040 @@ +GardID,GardIDStatus,DataSource,SourceID,ClassificationLevel,DisorderType,SourceName,SourceSynonym,SourceDescription,OmimMember,ParentOrphaCode,ParentOrphaName,ParentGardID,RdRequestID,GardLegacy_DiseaseName,GardLegacy_GARDisRare,GardLegacy_isSpanish,GardLegacy_StatusName +GARD:1,Active,Orphanet,ORPHA:53693,Disorder,[Disease],GRACILE syndrome,"[Fellman disease, Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome]","An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).",[603358],,,,,GRACILE syndrome,TRUE,FALSE,Active +GARD:10000,Active,Orphanet,ORPHA:94124,Disorder,[Disease],Spinocerebellar ataxia with axonal neuropathy type 1,[SCAN1],"Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.",[607250],,,,,Spinocerebellar ataxia with axonal neuropathy type 1,TRUE,FALSE,Active +GARD:10001,Active,Orphanet,ORPHA:53689,Disorder,[Disease],Congenital chloride diarrhea,,"A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.",[214700],,,,,Congenital chloride diarrhea,TRUE,FALSE,Active +GARD:10002,Legacy,GARD,,,,,,,,,,,,BOR-Duane hydrocephalus contiguous gene syndrome,TRUE,FALSE,Active +GARD:10003,Legacy,GARD,,,,,,,,,,,,"Pachygyria, frontotemporal",TRUE,FALSE,Active +GARD:10004,Legacy,GARD,,,,,,,,,,,,"Frontotemporal dementia, ubiquitin-positive",TRUE,FALSE,Active +GARD:10005,Active,Orphanet,ORPHA:871,Disorder,[Disease],Familial progressive cardiac conduction defect,"[Familial Lenègre disease, Familial Lev disease, Familial Lev-Lenègre disease, Familial PCCD, Familial progressive heart block, Hereditary bundle branch defect]","A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.","[604559, 113900, 140400, 115080, 612838]",,,,,Familial progressive cardiac conduction defect,TRUE,FALSE,Active +GARD:10006,Legacy,GARD,,,,,,,,,,,,Brenner tumor of the vagina,TRUE,FALSE,Active +GARD:10007,Active,Orphanet+OMIM,OMIM:300310,Subtype of disorder,[Clinical subtype],Immunodeficiency 61,"[Agammaglobulinemia, x-linked, type 2, xla2]","Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by {1:Keller et al., 2018}).\n\nFor a general phenotypic description of X-linked agammaglobulinemia, see {300755}.",[300310],[47],[X-linked agammaglobulinemia],[1033],,Agammaglobulinemia X-linked type 2,TRUE,FALSE,Active +GARD:10008,Legacy,GARD,,,,,,,,,,,,Colpocephaly,TRUE,FALSE,Active +GARD:10009,Active,Orphanet,ORPHA:1183,Disorder,[Disease],Opsoclonus-myoclonus syndrome,"[Ataxo-opso-myoclonus syndrome, Dancing eye syndrome, Dancing eye-dancing feet syndrome, Kinsbourne syndrome, OMA syndrome, OMS, Opsoclonus-myoclonus-ataxia syndrome, POMA syndrome, Paraneoplastic opsoclonus-myoclonus, Paraneoplastic opsoclonus-myoclonus-ataxia syndrome]","Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.",,,,,,Opsoclonus-myoclonus syndrome,TRUE,FALSE,Active +GARD:1001,Legacy,GARD,,,,,,,,,,,,Branchial arch defects,TRUE,FALSE,Active +GARD:10010,Active,Orphanet,ORPHA:79411,Disorder,[Disease],Self-improving dystrophic epidermolysis bullosa,"[Self-improving DEB, Transient bullous dermolysis of the newborn]",A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.,[131705],,,,,Transient bullous dermolysis of the newborn,TRUE,FALSE,Active +GARD:10011,Active,Orphanet,ORPHA:83617,Disorder,[Malformation syndrome],Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,,"A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.",[610483],,,,,"Agammaglobulinemia, microcephaly, and severe dermatitis",TRUE,FALSE,Active +GARD:10012,Active,Orphanet,ORPHA:85164,Disorder,[Disease],Camptodactyly-tall stature-scoliosis-hearing loss syndrome,"[CATSHL syndrome, Camptodactyly-tall stature-scoliosis-deafness syndrome]","Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.",[610474],,,,,"Camptodactyly, tall stature, and hearing loss syndrome",TRUE,FALSE,Active +GARD:10013,Legacy,GARD,,,,,,,,,,,,Red cell phospholipid defect with hemolysis,TRUE,FALSE,Active +GARD:10014,Active,Orphanet,ORPHA:97352,Disorder,[Disease],Pellagra,,"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.",,,,,,Pellagra,TRUE,FALSE,Active +GARD:10016,Legacy,GARD,,,,,,,,,,,,Priapism,TRUE,FALSE,Active +GARD:10018,Active,Orphanet,ORPHA:98974,Disorder,[Disease],Fuchs endothelial corneal dystrophy,"[Endoepithelial corneal dystrophy, FECD, Late hereditary endothelial dystrophy]","A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.","[613270, 613267, 613271, 136800, 613268, 610158, 615523, 613269]",,,,,Fuchs endothelial corneal dystrophy,FALSE,FALSE,Active +GARD:10019,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy Fuchs endothelial 2,FALSE,FALSE,Retired +GARD:1002,Active,Orphanet,ORPHA:1131,Disorder,[Malformation syndrome],X-linked mandibulofacial dysostosis,"[Mandibulofacial dysostosis, Toriello type, X-linked branchial arch syndrome, X-linked mandibulofacial dysostosis with limb anomalies]","X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.",[301950],,,,,Branchial arch syndrome X-linked,TRUE,FALSE,Active +GARD:10022,Legacy,GARD,,,,,,,,,,,,"Vagina, absence of",TRUE,FALSE,Active +GARD:10023,Active,Orphanet+OMIM,OMIM:609220,Subtype of disorder,[Malformation syndrome subtype],Bruck syndrome 2,[Osteogenesis imperfecta with congenital joint contractures],,[609220],[2771],[Bruck syndrome],[1029],,Bruck syndrome 2,TRUE,FALSE,Active +GARD:10024,Active,Orphanet+OMIM,OMIM:277720,Subtype of disorder,[Malformation syndrome subtype],"Whistling face syndrome, recessive form",,"Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; {193700}). There are rare reports of presumably autosomal recessive inheritance (summary by {1:Altunhan et al., 2010}).",[277720],[2053],[Freeman-Sheldon syndrome],[6466],,"Whistling face syndrome, recessive form",TRUE,FALSE,Active +GARD:10025,Active,Orphanet,ORPHA:88632,Group of disorders,[Category],Anterior segment developmental anomaly,[Anterior segment dysgenesis],,"[107250, 617315, 617319]",,,,,Anterior segment dysgenesis,TRUE,FALSE,Active +GARD:10026,Legacy,GARD,,,,,,,,,,,,Piriformis syndrome,TRUE,FALSE,Active +GARD:10027,Active,Orphanet,ORPHA:140,Disorder,[Malformation syndrome],Campomelic dysplasia,[Campomelic dwarfism],"A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype.","[602196, 211990, 114290]",,,,,Campomelic dysplasia,TRUE,FALSE,Active +GARD:10028,Active,Orphanet,ORPHA:99960,Subtype of disorder,[Clinical subtype],Benign recurrent intrahepatic cholestasis type 1,"[BRIC type 1, BRIC1]",,[243300],,,,,Benign recurrent intrahepatic cholestasis 1,TRUE,FALSE,Active +GARD:10029,Active,Orphanet,ORPHA:99961,Subtype of disorder,[Clinical subtype],Benign recurrent intrahepatic cholestasis type 2,"[BRIC type 2, BRIC2]",,[605479],,,,,Benign recurrent intrahepatic cholestasis 2,TRUE,FALSE,Active +GARD:10030,Legacy,GARD,,,,,,,,,,,,Hemorrhagic shock and encephalopathy syndrome,TRUE,FALSE,Active +GARD:10031,Legacy,GARD,,,,,,,,,,,,"Sebaceous gland hyperplasia, familial presenile",TRUE,FALSE,Active +GARD:10032,Legacy,GARD,,,,,,,,,,,,"Presenile dementia, Kraepelin type",TRUE,FALSE,Active +GARD:10033,Active,Orphanet+OMIM,OMIM:608542,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 2",,"Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and mortality (summary by {2:van der Voet et al., 2004}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[608542],[231160],[Familial cerebral saccular aneurysm],[17161],,"Aneurysm, intracranial berry, 2",TRUE,FALSE,Active +GARD:10034,Active,Orphanet,ORPHA:231013,Disorder,[Disease],Congenital trigeminal anesthesia,,"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).",[122450],,,,,"Corneal hypesthesia, familial",TRUE,FALSE,Active +GARD:10035,Legacy,GARD,,,,,,,,,,,,Developmental prosopagnosia,TRUE,FALSE,Active +GARD:10036,Legacy,GARD,,,,,,,,,,,,Autosomal dominant compelling helio ophthalmic outburst syndrome,TRUE,FALSE,Active +GARD:10037,Active,Orphanet,ORPHA:85110,Disorder,[Disease],Familial encephalopathy with neuroserpin inclusion bodies,[FENIB],"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).",[604218],,,,,Familial encephalopathy with neuroserpin inclusion bodies,TRUE,FALSE,Active +GARD:10038,Legacy,GARD,,,,,,,,,,,,Pleomorphic malignant fibrous histiocytoma,TRUE,FALSE,Retired +GARD:10039,Active,Orphanet,ORPHA:79155,Disorder,[Disease],Hydroxykynureninuria,"[Kynureninase deficiency, Xanthurenic aciduria]","A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.",[236800],,,,,Hydroxykynureninuria,TRUE,FALSE,Active +GARD:1004,Legacy,GARD,,,,,,,,,,,,Oculootofacial dysplasia,TRUE,FALSE,Retired +GARD:10040,Legacy,GARD,,,,,,,,,,,,Potato nose,TRUE,FALSE,Active +GARD:10041,Active,Orphanet,ORPHA:1200,Disorder,[Malformation syndrome],Burn-McKeown syndrome,[Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome],"A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.","[608572, 616462]",,,,,Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,TRUE,FALSE,Active +GARD:10043,Active,Orphanet+OMIM,OMIM:602083,Subtype of disorder,[Clinical subtype],"Usher syndrome, type if",,Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I ({276900}) have congenital severe to profound hearing loss and vestibular dysfunction.,[602083],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1F",TRUE,FALSE,Active +GARD:10044,Legacy,GARD,,,,,,,,,,,,Posterior column ataxia,TRUE,FALSE,Active +GARD:10045,Active,Orphanet,ORPHA:79303,Disorder,[Disease],Congenital bile acid synthesis defect type 2,"[BASD2, Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency]","Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.",[235555],,,,,"Congenital bile acid synthesis defect, type 2",TRUE,FALSE,Active +GARD:10046,Active,Orphanet,ORPHA:79095,Disorder,[Disease],Congenital bile acid synthesis defect type 4,"[2-methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BASD4, Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome]","Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.","[614307, 214950]",,,,,"Bile acid synthesis defect, congenital, 4",TRUE,FALSE,Active +GARD:10047,Active,Orphanet,ORPHA:32,Disorder,[Disease],Glutathione synthetase deficiency,[Pyroglutamicaciduria],"A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.","[266130, 231900]",,,,,Glutathione synthetase deficiency,TRUE,FALSE,Active +GARD:10048,Active,Orphanet,ORPHA:79143,Disorder,[Disease],Isolated congenital anonychia,[Isolated anonychia],"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","[107000, 206800, 614149]",,,,,Anonychia congenita,TRUE,FALSE,Retired +GARD:10049,Active,Orphanet,ORPHA:75377,Disorder,[Disease],Central areolar choroidal dystrophy,"[Areolar atrophy of the macula, CACD, Central areolar choroidal sclerosis]","A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.","[215500, 613144, 613105]",,,,,Choroidal dystrophy central areolar,TRUE,FALSE,Active +GARD:10050,Active,Orphanet,ORPHA:41751,Disorder,[Disease],Bietti crystalline dystrophy,"[BCD, Bietti crystalline corneoretinal dystrophy, Bietti crystalline retinopathy]","Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.",[210370],,,,,Bietti crystalline corneoretinal dystrophy,TRUE,FALSE,Active +GARD:10051,Active,Orphanet,ORPHA:69085,Disorder,[Malformation syndrome],Limb-mammary syndrome,[LMS],"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.",[603543],,,,,Limb-mammary syndrome,TRUE,FALSE,Active +GARD:10052,Legacy,GARD,,,,,,,,,,,,Devriendt syndrome,TRUE,FALSE,Active +GARD:10053,Active,Orphanet,ORPHA:268835,Disorder,[Morphological anomaly],Lipomyelomeningocele,,"Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.",,,,,,Lipomyelomeningocele,TRUE,FALSE,Active +GARD:10054,Active,Orphanet,ORPHA:2725,Disorder,[Malformation syndrome],Eye defects-arachnodactyly-cardiopathy syndrome,"[Al Gazali-Al Talabani syndrome, Al Gazali-Lytle syndrome]","A rare genetic bone development disorder characterized by pre- and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia), and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life.",[609465],,,,,Al Gazali syndrome,TRUE,FALSE,Active +GARD:10055,Legacy,GARD,,,,,,,,,,,,"Holoprosencephaly, recurrent infections, and monocytosis",TRUE,FALSE,Active +GARD:10056,Active,Orphanet,ORPHA:79113,Disorder,[Malformation syndrome],Mandibulofacial dysostosis-microcephaly syndrome,"[MFDM syndrome, Mandibulofacial dysostosis, Guion-Almeida type]","A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.",[610536],,,,,Mandibulofacial dysostosis with microcephaly,TRUE,FALSE,Active +GARD:10057,Active,Orphanet,ORPHA:168454,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Geneviève type","[SEMD, Geneviève type, SEMDG]","Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.",[610442],,,,,Spondyloepimetaphyseal dysplasia Genevieve type,TRUE,FALSE,Active +GARD:10058,Legacy,GARD,,,,,,,,,,,,Iridogoniodysgenesis and skeletal anomalies,TRUE,FALSE,Active +GARD:10059,Legacy,GARD,,,,,,,,,,,,Dystelephalangy,TRUE,FALSE,Active +GARD:10061,Active,Orphanet,ORPHA:50809,Disorder,[Malformation syndrome],Talo-patello-scaphoid osteolysis,[Singh-Williams-McAlister syndrome],"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.",[609655],,,,,"Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals",TRUE,FALSE,Active +GARD:10062,Legacy,GARD,,,,,,,,,,,,Talonavicular coalition,TRUE,FALSE,Active +GARD:10063,Legacy,GARD,,,,,,,,,,,,"Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss",TRUE,FALSE,Active +GARD:10064,Legacy,GARD,,,,,,,,,,,,"Mental retardation, keratoconus, febrile seizures, and sinoatrial block",TRUE,FALSE,Retired +GARD:10065,Legacy,GARD,,,,,,,,,,,,"Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema",TRUE,FALSE,Active +GARD:10066,Active,Orphanet,ORPHA:498485,Disorder,[Malformation syndrome],Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,,"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.",[608811],,,,,"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth",TRUE,FALSE,Active +GARD:10067,Legacy,GARD,,,,,,,,,,,,"Lateral semicircular canal malformation, familial, with external and middle ear abnormalities",TRUE,FALSE,Active +GARD:10068,Legacy,GARD,,,,,,,,,,,,"Taurodontism, microdontia, and dens invaginatus",TRUE,FALSE,Active +GARD:10069,Legacy,GARD,,,,,,,,,,,,Dens in dente and palatal invaginations,TRUE,FALSE,Active +GARD:10070,Active,Orphanet,ORPHA:251639,Disorder,[Disease],Subependymoma,,"Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.",,,,,,Subependymoma,TRUE,FALSE,Active +GARD:10071,Legacy,GARD,,,,,,,,,,,,Pulmonic stenosis,TRUE,FALSE,Active +GARD:10072,Active,Orphanet,ORPHA:85182,Disorder,[Disease],Diaphyseal medullary stenosis-bone malignancy syndrome,"[Bone dysplasia-medullary fibrosarcoma syndrome, Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome, Hardcastle syndrome]","Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).",[112250],,,,,Diaphyseal medullary stenosis with malignant fibrous histiocytoma,TRUE,FALSE,Active +GARD:10073,Legacy,GARD,,,,,,,,,,,,Cerebral sarcoma,TRUE,FALSE,Active +GARD:10074,Legacy,GARD,,,,,,,,,,,,Abderhalden Kaufmann Lignac syndrome,TRUE,FALSE,Retired +GARD:10075,Active,Orphanet+OMIM,OMIM:601230,Subtype of disorder,[Disease subtype],"Dermatitis herpetiformis, familial",[Dh],"Dermatitis herpetiformis (DH) and celiac disease (CD; {212750}) are gluten-sensitive diseases. In classic CD the small intestine is predominantly affected, whereas in DH the skin is also affected, showing typical rash and IgA deposits.\n\n{3:Reunala (1996)} reported on the familial incidence of DH in a prospective study started in 1969 in Finland. A total of 1,018 patients with DH were diagnosed and questioned for positive family histories. Of the 999 unrelated DH patients, 105 (10.5%) had 1 or several affected first-degree relatives. Disease in the relatives was either DH (4.4%) or CD (6.1%). Analysis of the 105 families showed that 13.6% of parents, 18.7% of sibs, and 14% of children were affected, a segregation pattern that fitted well to a mendelian dominant mode of inheritance. Gender may also be important because the first-degree relatives affected with DH were more often females and those affected with CD twice as often females as males.\n\nDH and CD have a common immunogenetic background; both disorders are associated with HLA alleles DQA1*0501 (see {146880}) and B1*0201 (see {142857}). {1:Karell et al. (2002)} evaluated the role of the HLA-DQ locus in 25 families in which both classic CD and DH occurred in sibs. By using a family-based approach, they assumed that within each family, variation in environmental factors was substantially lower than in the standard case-control setting, and that the problems related to population stratification could be avoided. Results from Finnish family material comprising 25 discordant and 85 concordant sib pairs, and from case-control material comprising 71 unrelated Hungarian DH and 68 classic CD patients, together indicated that the HLA-DQ locus did not differ between the 2 major outcomes of gluten-sensitive enteropathy. The authors concluded that non-HLA-DR;DQ factors are crucial for the different clinical manifestations of gluten sensitivity.\n\nUsing ELISA, {4:Sardy et al. (2002)} found that sera from both CD and DH reacted with tissue transglutaminase (TGM2; {190196}) and epidermal transglutaminase (TGM3; {600238}), but the DH antibodies had a markedly higher avidity for TGM3. Immunofluorescence and confocal microscopy demonstrated that IgA precipitates in the papillary dermis of DH patients contained TGM3, but not keratinocyte transglutaminase (TGM1; {190195}) or TGM2. {4:Sardy et al. (2002)} concluded that TGM3 is the dominant autoantigen in DH, explaining why skin symptoms rather than intestinal symptoms appear in a proportion of patients with gluten-sensitive disease.",[601230],[1656],[Dermatitis herpetiformis],[1917],,Dermatitis herpetiformis familial,TRUE,FALSE,Retired +GARD:10076,Legacy,GARD,,,,,,,,,,,,"Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia",TRUE,FALSE,Active +GARD:10077,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia acromesomelic with genital anomalies,TRUE,FALSE,Active +GARD:10078,Legacy,GARD,,,,,,,,,,,,Crumpled helices and small mouth,TRUE,FALSE,Active +GARD:10079,Legacy,GARD,,,,,,,,,,,,"Hydroa vacciniforme, familial",TRUE,FALSE,Active +GARD:10080,Legacy,GARD,,,,,,,,,,,,Catatrichy,TRUE,FALSE,Active +GARD:10081,Active,Orphanet,ORPHA:2475,Disorder,[Malformation syndrome],White forelock with malformations,,"White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.",[277740],,,,,White forelock with malformations,TRUE,FALSE,Active +GARD:10082,Active,Orphanet,ORPHA:85179,Disorder,[Malformation syndrome],Infantile osteopetrosis with neuroaxonal dysplasia,,"This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.","[259720, 600329]",,,,,Osteopetrosis and infantile neuroaxonal dystrophy,TRUE,FALSE,Active +GARD:10083,Active,Orphanet,ORPHA:79124,Disorder,[Disease],Hepatic veno-occlusive disease-immunodeficiency syndrome,[VODI syndrome],"A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.",[235550],,,,,Hepatic venoocclusive disease with immunodeficiency,TRUE,FALSE,Active +GARD:10084,Active,Orphanet,ORPHA:141148,Disorder,[Malformation syndrome],Hemifacial myohyperplasia,,"Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.",[606773],,,,,Hemifacial myohyperplasia,TRUE,FALSE,Active +GARD:10085,Legacy,GARD,,,,,,,,,,,,Klebsiella infection,TRUE,FALSE,Active +GARD:10086,Legacy,GARD,,,,,,,,,,,,"Neuropathy, congenital, with arthrogryposis multiplex",TRUE,FALSE,Active +GARD:10087,Legacy,GARD,,,,,,,,,,,,"Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",TRUE,FALSE,Active +GARD:10088,Active,Orphanet,ORPHA:77297,Disorder,[Disease],Majeed syndrome,[Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome],"Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.",[609628],,,,,Majeed syndrome,TRUE,FALSE,Active +GARD:10089,Active,Orphanet,ORPHA:2886,Disorder,[Malformation syndrome],TARP syndrome,"[Pierre Robin sequence-congenital heart defect-talipes syndrome, Pierre Robin syndrome-congenital heart defect-talipes syndrome, Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome]","TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.",[311900],,,,,TARP syndrome,TRUE,FALSE,Active +GARD:10090,Active,Orphanet+OMIM,OMIM:602196,Subtype of disorder,[Malformation syndrome subtype],Pierre robin sequence with pectus excavatum and rib and scapular anomalies,"[Skeletal dysplasia related to campomelic dysplasia, campomelic dysplasia, mild]",,[602196],[140],[Campomelic dysplasia],[10027],,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies,TRUE,FALSE,Active +GARD:10091,Active,Orphanet,ORPHA:821,Disorder,[Disease],Sotos syndrome,[Cerebral gigantism],"A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.","[117550, 617169]",,,,,Sotos syndrome,TRUE,FALSE,Active +GARD:10092,Active,Orphanet,ORPHA:79230,Disorder,[Disease],Hemochromatosis type 2,[Juvenile hemochromatosis],"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.","[602390, 613313]",,,,,Hemochromatosis type 2,TRUE,FALSE,Active +GARD:10093,Active,Orphanet,ORPHA:225123,Disorder,[Disease],Hemochromatosis type 3,[TFR2-related hemochromatosis],"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.",[604250],,,,,Hemochromatosis type 3,TRUE,FALSE,Active +GARD:10094,Active,Orphanet,ORPHA:139491,Disorder,[Disease],Hemochromatosis type 4,"[Autosomal dominant hereditary hemochromatosis, Ferroportin disease, Hemochromatosis due to defect in ferroportin]","Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.",[606069],,,,,Hemochromatosis type 4,TRUE,FALSE,Active +GARD:10095,Active,Orphanet+OMIM,OMIM:602481,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 2",[Mhp2],,[602481],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 2,TRUE,FALSE,Retired +GARD:10096,Active,Orphanet,ORPHA:523,Disorder,[Disease],Hereditary leiomyomatosis and renal cell cancer,"[Familial leiomyomatosis and renal cell cancer, Familial leiomyomatosis cutis et uteri, Familial leiomyomatosis with renal carcinoma, Familial multiple cutaneous leiomyomas, HLRCC, Hereditary leiomyomatosis, Hereditary leiomyomatosis with renal carcinoma, Hereditary multiple cutaneous leiomyomas, MCUL, Multiple cutaneous and uterine leiomyomas, Reed syndrome]","Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.",[150800],,,,,Hereditary leiomyomatosis and renal cell cancer,TRUE,FALSE,Active +GARD:10097,Active,Orphanet+OMIM,OMIM:150700,Subtype of disorder,[Clinical subtype],Leiomyoma of vulva and esophagus,"[Leiomyomatosis, esophagogastric and vulvar]",,[150700],[1018],[X-linked Alport syndrome-diffuse leiomyomatosis],[2432],,Leiomyoma of vulva and esophagus,TRUE,FALSE,Active +GARD:10098,Legacy,GARD,,,,,,,,,,,,Trichorrhexis nodosa syndrome,TRUE,FALSE,Retired +GARD:10099,Active,Orphanet,ORPHA:33573,Disorder,[Disease],Gamma-glutamyl transpeptidase deficiency,"[Gamma-glutamyl transferase deficiency, Glutathionuria]",A disorder that is characterized by increased glutathione concentration in the plasma and urine.,[231950],,,,,Glutathionuria,TRUE,FALSE,Active +GARD:101,Active,Orphanet,ORPHA:595,Group of disorders,[Clinical group],Centronuclear myopathy,[CNM],A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.,,,,,,Centronuclear myopathy,TRUE,FALSE,Active +GARD:10100,Legacy,GARD,,,,,,,,,,,,Tietze syndrome,TRUE,FALSE,Active +GARD:10101,Active,Orphanet,ORPHA:168443,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,,"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.",[183849],,,,,Spondyloepimetaphyseal dysplasia with hypotrichosis,TRUE,FALSE,Active +GARD:10102,Legacy,GARD,,,,,,,,,,,,"Ehlers-Danlos syndrome, Beasley Cohen type",TRUE,FALSE,Retired +GARD:10103,Active,Orphanet,ORPHA:79148,Disorder,[Disease],Elastosis perforans serpiginosa,,"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.",[130100],,,,,Elastosis perforans serpiginosa,TRUE,FALSE,Active +GARD:10104,Active,Orphanet+OMIM,OMIM:177850,Subtype of disorder,[Disease subtype],"Pseudoxanthoma elasticum, forme fruste",,,[177850],[758],[Pseudoxanthoma elasticum],[9643],,"Pseudoxanthoma elasticum, forme fruste",TRUE,FALSE,Active +GARD:10106,Active,Orphanet,ORPHA:178389,Disorder,[Disease],Osteopetrosis-hypogammaglobulinemia syndrome,"[Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, Autosomal recessive osteopetrosis type 7]","Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.",[612301],,,,,Osteopetrosis autosomal recessive 7,TRUE,FALSE,Active +GARD:10107,Legacy,GARD,,,,,,,,,,,,Tetralogy of fallot and glaucoma,TRUE,FALSE,Active +GARD:10108,Active,Orphanet+OMIM,OMIM:608931,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency","[myasthenia, familial infantile, 1, formerly, cms id, formerly, Myasthenic syndrome, congenital, type id]","Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG ({100730}) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by {7:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[608931],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,Congenital myasthenic syndrome associated with acetylcholine receptor deficiency,TRUE,FALSE,Active +GARD:10109,Active,Orphanet,ORPHA:199,Disorder,[Malformation syndrome],Cornelia de Lange syndrome,[Brachmann-de Lange syndrome],"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.","[610759, 614701, 300590, 122470, 300882]",,,,,Cornelia de Lange syndrome,TRUE,FALSE,Active +GARD:10111,Active,Orphanet+OMIM,OMIM:161800,Subtype of disorder,[Disease subtype],Nemaline myopathy 3,,"Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles ({17:Ilkovski et al., 2001}). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease ({31:North et al., 1997}; {53:Wallgren-Pettersson et al., 1999}; {37:Ryan et al., 2001}; {38:Sanoudou and Beggs, 2001}). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease ({53:Wallgren-Pettersson et al., 1999}; {38:Sanoudou and Beggs, 2001}).\n\nMyopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors ({32:Nowak et al., 1999}; {23:Kaindl et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Nemaline Myopathy\n\nSee also NEM1 ({609284}), caused by mutation in the tropomyosin-3 gene (TPM3; {191030}) on chromosome 1q22; NEM2 ({256030}), caused by mutation in the nebulin gene (NEB; {161650}) on chromosome 2q23; NEM4 ({609285}), caused by mutation in the beta-tropomyosin gene (TPM2; {190990}) on chromosome 9p13; NEM5 ({605355}), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1; {191041}) on chromosome 19q13; NEM6 ({609273}), caused by mutation in the KBTBD13 gene ({613727}) on chromosome 15q22; NEM7 ({610687}), caused by mutation in the cofilin-2 gene (CFL2; {601443}) on chromosome 14q13; NEM8 ({615348}), caused by mutation in the KLHL40 gene ({615340}), on chromosome 3p22; NEM9 ({615731}), caused by mutation in the KLHL41 gene ({607701}) on chromosome 2q31; NEM10 ({616165}), caused by mutation in the LMOD3 gene ({616112}) on chromosome 3p14; and NEM11 ({617336}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments ({38:Sanoudou and Beggs, 2001}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({25:Lehtokari et al., 2006}).",[161800],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,Nemaline myopathy 3,TRUE,FALSE,Retired +GARD:10112,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 4,TRUE,FALSE,Retired +GARD:10114,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 6,TRUE,FALSE,Retired +GARD:10115,Legacy,GARD,,,,,,,,,,,,Hyperostosis-hyperphosphatemia syndrome,TRUE,FALSE,Active +GARD:10116,Active,Orphanet,ORPHA:91132,Disorder,[Disease],Ichthyosis-hypotrichosis syndrome,"[Hypotrichosis-congenital ichthyosis syndrome, IFAH syndrome, IHS, Ichthyosis-follicular atrophoderma-hypotrichosis syndrome, Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome]","Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.",[602400],,,,,"Ichthyosis with hypotrichosis, autosomal recessive",TRUE,FALSE,Active +GARD:10117,Legacy,GARD,,,,,,,,,,,,Retinal cone dystrophy 2,TRUE,FALSE,Active +GARD:10118,Active,Orphanet,ORPHA:75382,Disorder,[Malformation syndrome],Oguchi disease,"[Congenital stationary night blindness, Oguchi type, Oguchi syndrome]",Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.,"[613411, 258100]",,,,,Oguchi disease,TRUE,FALSE,Active +GARD:10119,Active,Orphanet+OMIM,OMIM:304030,Subtype of disorder,[Disease subtype],"Cone dystrophy, x-linked, with tapetal-like sheen",,"{1:Heckenlively and Weleber (1986)} described 2 families with a 'new' form of X-linked cone dystrophy characterized by a peculiar greenish-golden tapetal-like sheen of large areas of the retina; onset of symptoms in the third decade; gradual loss of vision with development of macular lesions in older patients; defective color vision; elevated cone thresholds on dark adaptometry; and abnormalities of the cone-mediated electroretinogram. One patient developed rhegmatogenous retinal detachment in one eye. Although the disorder was different from Oguchi disease ({258100}) in clinical features and mode of inheritance, the patients showed the Mizuo-Nakamura phenomenon as in Oguchi disease: fading of the retinal sheen with clearer revealing of choroidal structures, on dark adaptation.",[304030],[1871],[Progressive cone dystrophy],[11897],,Cone dystrophy X-linked with tapetal-like sheen,TRUE,FALSE,Active +GARD:10120,Active,Orphanet+OMIM,OMIM:153840,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 1","[Macular dystrophy, atypical vitelliform]","Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {4:Manes et al., 2013}). In contrast to typical VMD (see {153700}), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals ({2:Hittner et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Vitelliform Macular Dystrophy\n\nSee also vitelliform macular dystrophy-2 (VMD2; {153700}), caused by mutation in the BEST1 gene ({607854}) on chromosome 11q; VMD3 ({608161}), caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21; VMD4 ({616151}), caused by mutation in the IMPG1 gene ({602870}) on chromosome 6q14; and VMD5 ({616152}), caused by mutation in the IMPG2 gene ({607056}) on chromosome 3q12.",[153840],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,"Macular dystrophy, atypical vitelliform",TRUE,FALSE,Active +GARD:10121,Active,Orphanet,ORPHA:75858,Disorder,[Disease],MORM syndrome,[Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome],"A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.",[610156],,,,,MORM syndrome,TRUE,FALSE,Active +GARD:10123,Active,Orphanet,ORPHA:75373,Disorder,[Disease],Progressive bifocal chorioretinal atrophy,"[CRAPB, PBCRA]","Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.",[600790],,,,,Progressive bifocal chorioretinal atrophy,TRUE,FALSE,Active +GARD:10125,Legacy,GARD,,,,,,,,,,,,Agnathia-microstomia-synotia,TRUE,FALSE,Active +GARD:10126,Active,Orphanet,ORPHA:79256,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 2,"[Juvenile GM1 gangliosidosis, Late-infantile GM1 gangliosidosis]","GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.",[230600],,,,,GM1 gangliosidosis type 2,TRUE,FALSE,Active +GARD:10127,Active,Orphanet,ORPHA:325448,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to LHB deficiency,"[46,XY DSD due to LHB deficiency, 46,XY DSD due to luteinizing hormone subunit beta deficiency, 46,XY disorder of sex development due to LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency]",,[228300],,,,,Fertile eunuch syndrome,TRUE,FALSE,Active +GARD:10128,Active,Orphanet,ORPHA:52901,Disorder,[Disease],Isolated follicle stimulating hormone deficiency,[Isolated FSH deficiency],"A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.",[229070],,,,,"Follicle-stimulating hormone deficiency, isolated",TRUE,FALSE,Active +GARD:10129,Active,Orphanet,ORPHA:90674,Disorder,[Disease],Isolated thyroid-stimulating hormone deficiency,"[Isolated TSH deficiency, Isolated thyrotropin deficiency]","A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.",[275100],,,,,"Thyrotropin deficiency, isolated",TRUE,FALSE,Active +GARD:10130,Active,Orphanet,ORPHA:48652,Disorder,[Malformation syndrome],Monosomy 22q13.3,"[22q13.3 deletion, Phelan-McDermid syndrome]","Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.",[606232],,,,,22q13.3 deletion syndrome,TRUE,FALSE,Active +GARD:10131,Active,Orphanet,ORPHA:90117,Disorder,[Disease],"Hereditary motor and sensory neuropathy, Okinawa type","[HMSNP, Hereditary motor and sensory neuropathy, proximal type]","Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.",[604484],,,,,"Neuropathy, hereditary motor and sensory, Okinawa type",TRUE,FALSE,Active +GARD:10132,Active,Orphanet,ORPHA:99953,Disorder,[Disease],Charcot-Marie-Tooth disease type 4G,"[CMT4G, HMSNR, Hereditary motor and sensory neuropathy, Russe Type]","Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.",[605285],,,,,"Neuropathy, hereditary motor and sensory, Russe type",TRUE,FALSE,Active +GARD:10133,Active,Orphanet,ORPHA:139552,Disorder,[Disease],"Distal hereditary motor neuropathy, Jerash type","[Autosomal recessive distal spinal muscular atrophy type 2, dHMNJ]","A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).",[605726],,,,,"Neuropathy, distal hereditary motor, Jerash type",TRUE,FALSE,Active +GARD:10134,Legacy,GARD,,,,,,,,,,,,Camptodactyly-ichthyosis syndrome,TRUE,FALSE,Active +GARD:10135,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis, distal, type 2E",TRUE,FALSE,Retired +GARD:10136,Legacy,GARD,,,,,,,,,,,,"Xeroderma pigmentosum, type 9",TRUE,FALSE,Retired +GARD:10137,Legacy,GARD,,,,,,,,,,,,"Whispering dysphonia, hereditary",TRUE,FALSE,Retired +GARD:10138,Active,Orphanet,ORPHA:98805,Disorder,[Disease],"Primary dystonia, DYT4 type","[DYT4, Hereditary whispering dysphonia]",DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).,[128101],,,,,DYT-TUBB4A,TRUE,FALSE,Active +GARD:10139,Legacy,GARD,,,,,,,,,,,,Chondrocalcinosis due to apatite crystal deposition,TRUE,FALSE,Active +GARD:10140,Active,Orphanet,ORPHA:97297,Disorder,[Malformation syndrome],Bohring-Opitz syndrome,"[BOS syndrome, Bohring syndrome, C-like syndrome, Oberklaid-Danks syndrome, Opitz trigonocephaly-like syndrome]","A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.",[605039],,,,,Bohring-Opitz syndrome,TRUE,FALSE,Active +GARD:10141,Legacy,GARD,,,,,,,,,,,,"Myelocytic leukemia-like syndrome, familial, chronic",TRUE,FALSE,Active +GARD:10142,Active,Orphanet,ORPHA:216804,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 2,"[Lethal osteogenesis imperfecta, OI type 2]","A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","[166210, 259440, 610915, 610682]",,,,,Osteogenesis imperfecta type II,TRUE,FALSE,Active +GARD:10143,Legacy,GARD,,,,,,,,,,,,Osteogenesis imperfecta type 2B,TRUE,FALSE,Retired +GARD:10144,Active,Orphanet,ORPHA:166265,Subtype of disorder,[Clinical subtype],Dentinogenesis imperfecta type 3,"[Dentinogenesis imperfecta, Shields type 3]","Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).",[125500],,,,,Dentinogenesis imperfecta type 3,TRUE,FALSE,Active +GARD:10145,Active,Orphanet,ORPHA:1713,Disorder,[Malformation syndrome],17p11.2 microduplication syndrome,"[Potocki-Lupski syndrome, Trisomy 17p11.2]","17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.",[610883],,,,,Potocki-Lupski syndrome,TRUE,FALSE,Active +GARD:10146,Legacy,GARD,,,,,,,,,,,,Anomalous origin of right pulmonary artery familial,TRUE,FALSE,Active +GARD:10147,Active,Orphanet,ORPHA:107,Disorder,[Malformation syndrome],BOR syndrome,[Branchiootorenal syndrome],"A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).","[610896, 113650]",,,,,Branchiootorenal syndrome,TRUE,FALSE,Active +GARD:10148,Active,Orphanet,ORPHA:52429,Disorder,[Malformation syndrome],Branchiootic syndrome,,"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","[602588, 120502, 608389]",,,,,Branchiootic syndrome,TRUE,FALSE,Active +GARD:10149,Active,Orphanet,ORPHA:1801,Disorder,[Malformation syndrome],Kyphomelic dysplasia,,"A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.",[211350],,,,,Kyphomelic dysplasia,TRUE,FALSE,Active +GARD:10150,Legacy,GARD,,,,,,,,,,,,Idiopathic subglottic tracheal stenosis,TRUE,FALSE,Active +GARD:10151,Active,Orphanet+OMIM,OMIM:612952,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 5,,,[612952],[51],[Aicardi-Goutières syndrome],[575],,Aicardi-Goutieres syndrome type 5,TRUE,FALSE,Retired +GARD:10152,Active,Orphanet+OMIM,OMIM:610915,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type viii","[Oi, type viii]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {3:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {2:Cabral et al. (2007)} described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.",[610915],"[216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3]","[10142, 8695]",,Osteogenesis imperfecta type VIII,TRUE,FALSE,Active +GARD:10153,Active,Orphanet,ORPHA:31837,Disorder,[Disease],Pulmonary venoocclusive disease,,,[265450],,,,,Pulmonary venoocclusive disease,TRUE,FALSE,Active +GARD:10155,Legacy,GARD,,,,,,,,,,,,Fetal macrosomia,TRUE,FALSE,Active +GARD:10156,Active,Orphanet,ORPHA:264688,Disorder,[Disease],Congenital chylothorax,,"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.",[603523],,,,,"Chylothorax, congenital",TRUE,FALSE,Active +GARD:10158,Legacy,GARD,,,,,,,,,,,,Torsion dystonia,TRUE,FALSE,Retired +GARD:10160,Legacy,GARD,,,,,,,,,,,,Reed syndrome,TRUE,FALSE,Retired +GARD:10161,Legacy,GARD,,,,,,,,,,,,Onychotrichodysplasia and neutropenia,TRUE,FALSE,Active +GARD:10162,Legacy,GARD,,,,,,,,,,,,Papillary cystadenocarcinoma,TRUE,FALSE,Active +GARD:10163,Active,Orphanet,ORPHA:307766,Disorder,[Disease],Curly hair-acral keratoderma-caries syndrome,"[CHAC syndrome, CHACS]","Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.",[607656],,,,,Curly hair-acral keratoderma-caries syndrome,TRUE,FALSE,Active +GARD:10164,Legacy,GARD,,,,,,,,,,,,Plagiocephaly,TRUE,FALSE,Active +GARD:10165,Legacy,GARD,,,,,,,,,,,,Nonseminomatous germ cell tumor,TRUE,FALSE,Active +GARD:10166,Legacy,GARD,,,,,,,,,,,,Cerebrospinal fluid leak,TRUE,FALSE,Active +GARD:10167,Active,Orphanet+OMIM,OMIM:608091,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 2,[Cerebellooculorenal syndrome 2],"Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices ({4:Maria et al., 1997}). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) ({1:Chance et al., 1999}; {5:Satran et al., 1999}).",[608091],[2318],[Joubert syndrome with oculorenal defect],[9455],,Joubert syndrome 2,TRUE,FALSE,Active +GARD:10168,Active,Orphanet,ORPHA:220493,Disorder,[Malformation syndrome],Joubert syndrome with ocular defect,"[JS-O, Joubert syndrome with retinopathy]","Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.","[614424, 614464, 614970, 608629, 617121]",,,,,Joubert syndrome with ocular anomalies,TRUE,FALSE,Active +GARD:10169,Active,Orphanet,ORPHA:220497,Disorder,[Malformation syndrome],Joubert syndrome with renal defect,[JS-R],"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.","[614424, 611560, 609583]",,,,,Joubert syndrome with renal anomalies,TRUE,FALSE,Active +GARD:1017,Active,Orphanet,ORPHA:666,Disorder,[Disease],Osteogenesis imperfecta,"[Brittle bone disease, Glass bone disease, Lobstein disease, OI]","A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.","[166230, 613982, 166210, 259440, 615066, 259420, 610682, 619131, 614856, 613848, 616229, 610915, 166220, 166200, 610967, 615220, 610968, 616507, 613849]",,,,,Osteogenesis imperfecta,TRUE,FALSE,Active +GARD:10173,Active,Orphanet,ORPHA:83451,Disorder,[Disease],Florid cemento-osseous dysplasia,"[Florid osseous dysplasia, Focal cemento-osseous dysplasia]","Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.",,,,,,Florid cemento-osseous dysplasia,TRUE,FALSE,Active +GARD:10174,Legacy,GARD,,,,,,,,,,,,Florid papillomatosis of the nipple,TRUE,FALSE,Active +GARD:10175,Active,Orphanet,ORPHA:99978,Disorder,[Disease],Klatskin tumor,"[Hilar CCA, Hilar cholangiocarcinoma]","Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.",,,,,,Klatskin tumor,TRUE,FALSE,Active +GARD:10176,Legacy,GARD,,,,,,,,,,,,Mastocytic enterocolitis,TRUE,FALSE,Active +GARD:10177,Active,Orphanet,ORPHA:521219,Disorder,[Clinical syndrome],Mirizzi syndrome,[Extrinsic biliary compression syndrome],"A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. Cholecystobiliary or -enteric fistulae can arise due to chronic inflammation and ulceration.",,,,,,Mirizzi syndrome,TRUE,FALSE,Active +GARD:10178,Legacy,GARD,,,,,,,,,,,,Weyers ulnar ray/oligodactyly syndrome,TRUE,FALSE,Active +GARD:10179,Active,Orphanet,ORPHA:79493,Disorder,[Disease],Brooke-Spiegler syndrome,[CYLD cutaneous syndrome],"A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas","[132700, 612099, 601606, 605041]",,,,,CYLD cutaneous syndrome,TRUE,FALSE,Active +GARD:1018,Legacy,GARD,,,,,,,,,,,,Brittle bone syndrome lethal type,TRUE,FALSE,Active +GARD:10181,Active,Orphanet,ORPHA:293202,Disorder,[Disease],Epithelioid sarcoma,,"Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.",,,,,,Epithelioid sarcoma,TRUE,FALSE,Active +GARD:10182,Legacy,GARD,,,,,,,,,,,,Hereditary antithrombin deficiency type 2,TRUE,FALSE,Active +GARD:10183,Legacy,GARD,,,,,,,,,,,,Hemoglobin Zurich,TRUE,FALSE,Active +GARD:10184,Active,Orphanet,ORPHA:398088,Disorder,[Disease],Hereditary cryohydrocytosis with normal stomatin,,"Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.",[185020],,,,,Pseudohyperkalemia Cardiff,TRUE,FALSE,Active +GARD:10185,Legacy,GARD,,,,,,,,,,,,Chester porphyria,TRUE,FALSE,Active +GARD:10186,Legacy,GARD,,,,,,,,,,,,Urachal adenocarcinoma,TRUE,FALSE,Active +GARD:10188,Active,Orphanet+OMIM,OMIM:300652,Subtype of disorder,[Disease subtype],"Angioma serpiginosum, x-linked",,"Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) ({1:Blinkenberg et al., 2007}).\n\nSee {106050} for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism ({2:Chen et al., 2006}; {1:Blinkenberg et al., 2007}).",[300652],[95429],[Angioma serpiginosum],[15021],,Angioma serpiginosum,TRUE,FALSE,Active +GARD:10189,Active,Orphanet+OMIM,OMIM:106050,Subtype of disorder,[Disease subtype],"Angioma serpiginosum, autosomal dominant",,"Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported ({8:Sandhu and Gupta, 2005}). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism ({3:Chen et al., 2006}; {2:Blinkenberg et al., 2007}).\n\nAn X-linked dominant form of angioma serpiginosum ({300652}) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene.",[106050],[95429],[Angioma serpiginosum],[15021],,"Angioma serpiginosum, autosomal dominant",TRUE,FALSE,Retired +GARD:1019,Active,Orphanet,ORPHA:90354,Disorder,[Disease],Brittle cornea syndrome,,"A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.","[614170, 229200]",,,,,Brittle cornea syndrome,TRUE,FALSE,Active +GARD:10190,Active,Orphanet,ORPHA:268994,Subtype of disorder,[Clinical subtype],Isolated focal cortical dysplasia type II,"[Cortical dysplasia, Taylor type, FCD type II, Isolated focal cortical dysplasia type 2]",,[607341],,,,,Focal cortical dysplasia of Taylor,TRUE,FALSE,Active +GARD:10191,Legacy,GARD,,,,,,,,,,,,Status epilepticus,TRUE,FALSE,Active +GARD:10192,Legacy,GARD,,,,,,,,,,,,True thymic hyperplasia,TRUE,FALSE,Active +GARD:10193,Active,Orphanet,ORPHA:86884,Disorder,[Disease],Subcutaneous panniculitis-like T-cell lymphoma,"[SPTCL, Subcutaneous panniculitic T-cell lymphoma]",Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.,[618398],,,,,Subcutaneous panniculitis-like T-cell lymphoma,TRUE,FALSE,Active +GARD:10194,Legacy,GARD,,,,,,,,,,,,"Acromegaloid features, overgrowth, cleft palate and hernia",TRUE,FALSE,Active +GARD:10195,Legacy,GARD,,,,,,,,,,,,"Faciomandibular myoclonus, nocturnal",TRUE,FALSE,Active +GARD:10196,Legacy,GARD,,,,,,,,,,,,Mesenteric artery ischemia,TRUE,FALSE,Retired +GARD:10197,Legacy,GARD,,,,,,,,,,,,Selective IgA deficiency,FALSE,FALSE,Active +GARD:10198,Legacy,GARD,,,,,,,,,,,,Immunoglobulin A deficiency 2,TRUE,FALSE,Active +GARD:10199,Active,Orphanet,ORPHA:98890,Disorder,[Disease],Early-onset X-linked optic atrophy,"[Non-Leber type optic atrophy with early-onset, OPA2, Optic atrophy type 2]","Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.",[311050],,,,,Optic atrophy 2,TRUE,FALSE,Active +GARD:102,Active,Orphanet,ORPHA:2671,Disorder,[Malformation syndrome],Neu-Laxova syndrome,,"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.","[256520, 616038]",,,,,Neu Laxova syndrome,TRUE,FALSE,Active +GARD:10200,Active,Orphanet+OMIM,OMIM:258500,Subtype of disorder,[Disease subtype],Optic atrophy 6,,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[258500],[98676],[Autosomal recessive isolated optic atrophy],[16860],,Optic atrophy 6,TRUE,FALSE,Active +GARD:10201,Active,Orphanet+OMIM,OMIM:610708,Subtype of disorder,[Disease subtype],Optic atrophy 5,,"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by {2:Gerber et al., 2017}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[610708],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,Optic atrophy 5,TRUE,FALSE,Active +GARD:10202,Active,Orphanet,ORPHA:1001,Disorder,[Malformation syndrome],2q37 microdeletion syndrome,"[Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability syndrome, Del(2)(q37), Deletion 2q37, Monosomy 2q37qter]","A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.",[600430],,,,,2q37 deletion syndrome,TRUE,FALSE,Active +GARD:10203,Active,Orphanet,ORPHA:67036,Disorder,[Disease],Autosomal dominant optic atrophy and cataract,"[Autosomal dominant optic atrophy type 3, OPA3, autosomal dominant]","A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).",[165300],,,,,Autosomal dominant optic atrophy and cataract,TRUE,FALSE,Active +GARD:10204,Active,Orphanet+OMIM,OMIM:615983,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 5,,"BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by {5:Scheidecker et al., 2015}). Patients described by {6:Young et al. (1999)} and {4:Moore et al. (2005)} with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% ({3:Li et al., 2004}) and 0.40% ({7:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615983],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 5,TRUE,FALSE,Active +GARD:10205,Active,Orphanet+OMIM,OMIM:605231,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 6,,"BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation ({5:Slavotinek et al., 2000}). {6:Zaghloul and Katsanis (2009)} estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[605231],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 6,TRUE,FALSE,Active +GARD:10206,Active,Orphanet+OMIM,OMIM:615984,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 7,,"Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism ({2:Harville et al., 2010}). {4:Zaghloul and Katsanis (2009)} estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615984],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 7,TRUE,FALSE,Active +GARD:10207,Active,Orphanet+OMIM,OMIM:615985,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 8,,"BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay ({1:Ansley et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615985],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 8,TRUE,FALSE,Active +GARD:10208,Active,Orphanet+OMIM,OMIM:615986,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 9,,"BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation ({1:Abu-Safieh et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615986],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 9,TRUE,FALSE,Active +GARD:10209,Active,Orphanet+OMIM,OMIM:615987,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 10,,"BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia ({5:Stoetzel et al., 2006}). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients ({5:Stoetzel et al., 2006}; {6:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615987],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 10,TRUE,FALSE,Active +GARD:10210,Active,Orphanet+OMIM,OMIM:615988,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 11,,"BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities ({1:Chiang et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615988],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 11,TRUE,FALSE,Active +GARD:10211,Active,Orphanet+OMIM,OMIM:615989,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 12,,"BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by {5:Stoetzel et al. (2007)} and {3:Harville et al. (2010)} met the diagnostic criteria of {1:Beales et al. (1999)}, which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615989],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 12,TRUE,FALSE,Active +GARD:10212,Active,Orphanet+OMIM,OMIM:269700,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 2","[lipoatrophic diabetes, congenital, brunzell syndrome, bscl2-related, seip syndrome, lipodystrophy, berardinelli-seip congenital, type 2, Berardinelli-seip congenital lipodystrophy, type 2, berardinelli syndrome, lipodystrophy, total, and acromegaloid gigantism]","Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes ({5:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[269700],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 2,TRUE,FALSE,Active +GARD:10213,Active,Orphanet,ORPHA:572361,Subtype of disorder,[Clinical subtype],Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,"[BPES type 2, Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure]",,[110100],,,,,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2",TRUE,FALSE,Retired +GARD:10214,Active,Orphanet,ORPHA:247598,Disorder,[Disease],Neonatal intrahepatic cholestasis due to citrin deficiency,"[NICCD, Neonatal intrahepatic cholestasis caused by citrin deficiency]","A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.",[605814],,,,,Neonatal intrahepatic cholestasis caused by citrin deficiency,TRUE,FALSE,Active +GARD:10215,Active,Orphanet,ORPHA:247585,Disorder,[Disease],Citrullinemia type II,"[Adult-onset citrin deficiency, Adult-onset citrullinemia type 2, Adult-onset citrullinemia type II, CTLN2, Citrullinemia type 2]","A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.",[603471],,,,,Citrullinemia type II,TRUE,FALSE,Active +GARD:10216,Active,Orphanet,ORPHA:443162,Disorder,[Malformation syndrome],NDE1-related microhydranencephaly,[MHAC],"NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.",[605013],,,,,Microhydranencephaly,TRUE,FALSE,Active +GARD:10217,Legacy,GARD,,,,,,,,,,,,Spondyloepiphyseal dysplasia Omani type,TRUE,FALSE,Retired +GARD:10218,Legacy,GARD,,,,,,,,,,,,"Microphthalmia, isolated, with corectopia",TRUE,FALSE,Retired +GARD:10219,Legacy,GARD,,,,,,,,,,,,Tonoki syndrome,TRUE,FALSE,Active +GARD:10220,Active,Orphanet,ORPHA:137678,Disorder,[Disease],Spondyloepiphyseal dysplasia with metatarsal shortening,"[Czech dysplasia, metatarsal type, SED with metatarsal shortening]","A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.",[609162],,,,,Czech dysplasia metatarsal type,TRUE,FALSE,Active +GARD:10221,Active,Orphanet,ORPHA:93111,Subtype of disorder,[Clinical subtype],HNF1B-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-HNF1B, HNF1B-MODY, HNF1B-related nephropathy, MODY5, Maturity-onset diabetes of the young type 5, RCAD syndrome, Renal cysts and diabetes syndrome, Renal dysfunction-early-onset diabetes syndrome]","A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.","[137920, 616026]",,,,,"Maturity-onset diabetes of the young, type 5",TRUE,FALSE,Active +GARD:10222,Legacy,GARD,,,,,,,,,,,,"Cataracts, ataxia, short stature, and mental retardation",TRUE,FALSE,Retired +GARD:10223,Active,Orphanet,ORPHA:79159,Disorder,[Disease],Isobutyryl-CoA dehydrogenase deficiency,[Isobutyric aciduria],"Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).",[611283],,,,,Isobutyryl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:10224,Active,Orphanet,ORPHA:73263,Disorder,[Disease],Zygomycosis,[Mucormycosis],"A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.",,,,,,Mucormycosis,TRUE,FALSE,Active +GARD:10225,Active,Orphanet,ORPHA:247709,Subtype of disorder,[Clinical subtype],Multiple endocrine neoplasia type 2B,"[MEN2B, Multiple endocrine neoplasia type 3, Wagenmann-Froboese syndrome]","A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.",[162300],,,,,Multiple endocrine neoplasia type 2B,TRUE,FALSE,Active +GARD:10226,Active,Orphanet,ORPHA:263508,Disorder,[Disease],COG1-CDG,"[CDG syndrome type IIg, CDG-IIg, CDG2G, Carbohydrate deficient glycoprotein syndrome type IIg, Congenital disorder of glycosylation type 2g, Congenital disorder of glycosylation type IIg]","COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.",[611209],,,,,COG1-CDG (CDG-IIg),TRUE,FALSE,Active +GARD:10227,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 3",TRUE,FALSE,Active +GARD:10228,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 4",TRUE,FALSE,Active +GARD:10229,Active,Orphanet,ORPHA:266,Disorder,[Disease],Autosomal dominant limb-girdle muscular dystrophy type 1A,"[LGMD1A, Limb-girdle muscular dystrophy due to myotilin deficiency]","A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.",[609200],,,,,Limb-girdle muscular dystrophy type 1A,TRUE,FALSE,Active +GARD:1023,Legacy,GARD,,,,,,,,,,,,Bronchiectasis oligospermia,TRUE,FALSE,Active +GARD:10230,Active,Orphanet+OMIM,OMIM:181350,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 2, autosomal dominant","[emery-dreifuss muscular dystrophy, autosomal dominant, muscular dystrophy, limb-girdle, type 1b, formerly, cardiomyopathy, dilated, with quadriceps myopathy, scapuloilioperoneal atrophy with cardiopathy, hauptmann-thannhauser muscular dystrophy, Emd2, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, muscular dystrophy, proximal, type 1b, formerly]","EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; {310300}) is an X-linked disorder caused by mutation in the emerin gene (EMD; {300384}) on Xq28 ({7:Emery, 1989}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[181350],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,Limb-girdle muscular dystrophy type 1B,TRUE,FALSE,Active +GARD:10232,Legacy,GARD,,,,,,,,,,,,Crohn's disease,FALSE,FALSE,Active +GARD:10234,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 1",TRUE,FALSE,Active +GARD:10236,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 5",TRUE,FALSE,Active +GARD:10237,Active,Orphanet,ORPHA:65284,Disorder,[Disease],Biotin-thiamine-responsive basal ganglia disease,"[BBGD, BTBGD, Biotin-responsive basal ganglia disease]","A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.",[607483],,,,,Biotin-thiamine-responsive basal ganglia disease,TRUE,FALSE,Active +GARD:10238,Active,Orphanet,ORPHA:275534,Disorder,[Disease],Myostatin-related muscle hypertrophy,,,[614160],,,,,Myostatin-related muscle hypertrophy,TRUE,FALSE,Active +GARD:10239,Active,Orphanet,ORPHA:168569,Disorder,[Malformation syndrome],H syndrome,,"A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.",[602782],,,,,Histiocytosis-lymphadenopathy plus syndrome,TRUE,FALSE,Active +GARD:10240,Legacy,GARD,,,,,,,,,,,,CoQ-responsive OXPHOS deficiency,TRUE,FALSE,Active +GARD:10241,Active,Orphanet+OMIM,OMIM:610629,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 3,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[610629],[124],[Blackfan-Diamond anemia],[6274],,Diamond-Blackfan anemia 3,TRUE,FALSE,Active +GARD:10244,Active,Orphanet,ORPHA:535453,Subtype of disorder,[Etiological subtype],Familial lipase maturation factor 1 deficiency,[Familial LMF1 deficiency],,[246650],,,,,Lipase deficiency combined,TRUE,FALSE,Active +GARD:10246,Legacy,GARD,,,,,,,,,,,,Asthma,FALSE,FALSE,Active +GARD:10247,Active,Orphanet,ORPHA:870,Disorder,[Malformation syndrome],Down syndrome,[Trisomy 21],"A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.",[190685],,,,,Down syndrome,FALSE,FALSE,Active +GARD:10248,Active,Orphanet,ORPHA:180772,Group of disorders,[Category],Rare disease with autism,,,,,,,,Autism spectrum disorder,FALSE,FALSE,Active +GARD:10249,Legacy,GARD,,,,,,,,,,,,Bipolar disorder,FALSE,FALSE,Active +GARD:1025,Active,Orphanet,ORPHA:2357,Disorder,[Morphological anomaly],Bronchogenic cyst,,Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.,,,,,,Bronchogenic cyst,TRUE,FALSE,Active +GARD:10251,Legacy,GARD,,,,,,,,,,,,Parkinson disease,FALSE,FALSE,Active +GARD:10252,Active,Orphanet,ORPHA:289390,Disorder,[Disease],Primary Sjögren syndrome,[Primary Sjögren-Gougerot syndrome],"A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.",[270150],,,,,Sjogren syndrome,FALSE,FALSE,Active +GARD:10253,Legacy,GARD,,,,,,,,,,,,Lupus,FALSE,FALSE,Active +GARD:10254,Legacy,GARD,,,,,,,,,,,,Alzheimer disease,FALSE,FALSE,Active +GARD:10255,Legacy,GARD,,,,,,,,,,,,Multiple sclerosis,FALSE,FALSE,Active +GARD:10256,Legacy,GARD,,,,,,,,,,,,Irritable bowel syndrome,FALSE,FALSE,Draft +GARD:10257,Legacy,GARD,,,,,,,,,,,,Monogenic diabetes,FALSE,FALSE,Active +GARD:1026,Legacy,GARD,,,,,,,,,,,,Amyloidosis bronchopulmonary,TRUE,FALSE,Active +GARD:10260,Legacy,GARD,,,,,,,,,,,,Macular degeneration,FALSE,FALSE,Active +GARD:10261,Legacy,GARD,,,,,,,,,,,,Obesity,FALSE,FALSE,Draft +GARD:10262,Legacy,GARD,,,,,,,,,,,,Psoriasis,FALSE,FALSE,Active +GARD:10263,Active,Orphanet,ORPHA:99927,Disorder,[Disease],Hydatidiform mole,[Molar pregnancy],"A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial.","[614293, 231090]",,,,,Hydatidiform mole,TRUE,FALSE,Active +GARD:10264,Legacy,GARD,,,,,,,,,,,,Spinal meningioma,TRUE,FALSE,Active +GARD:10265,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides,TRUE,FALSE,Active +GARD:10266,Active,Orphanet,ORPHA:85458,Disorder,[Disease],Hereditary cerebral hemorrhage with amyloidosis,[HCHWA],"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.","[605714, 105150]",,,,,Hereditary cerebral hemorrhage with amyloidosis,TRUE,FALSE,Active +GARD:10267,Active,Orphanet,ORPHA:309147,Disorder,[Disease],Hyper-beta-alaninemia,[Hyperalaninemia],"A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.",[237400],,,,,Hyperbetaalaninemia,TRUE,FALSE,Active +GARD:10268,Legacy,GARD,,,,,,,,,,,,Diabetes mellitus type 1,FALSE,FALSE,Active +GARD:10269,Legacy,GARD,,,,,,,,,,,,"Pancreatitis, pediatric",TRUE,FALSE,Active +GARD:10270,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 3",TRUE,FALSE,Active +GARD:10271,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 4",TRUE,FALSE,Active +GARD:10272,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 5",TRUE,FALSE,Active +GARD:10273,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 6",TRUE,FALSE,Active +GARD:10276,Legacy,GARD,,,,,,,,,,,,Windblown hand,TRUE,FALSE,Active +GARD:10277,Active,Orphanet,ORPHA:2952,Disorder,[Malformation syndrome],"Adducted thumbs-arthrogryposis syndrome, Christian type",,"A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.",[201550],,,,,"Clasped thumbs, congenital",TRUE,FALSE,Active +GARD:10278,Legacy,GARD,,,,,,,,,,,,Aquagenic pruritus,TRUE,FALSE,Active +GARD:10279,Legacy,GARD,,,,,,,,,,,,Fasting hypoglycemia,FALSE,FALSE,Active +GARD:10280,Active,Orphanet,ORPHA:2345,Disorder,[Malformation syndrome],Isolated Klippel-Feil syndrome,"[Congenital cervical vertebral fusion, Congenital fused cervical segments, Klippel-Feil malformation, Klippel-Feil sequence]",Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.,"[613702, 118100, 214300]",,,,,Klippel Feil syndrome,TRUE,FALSE,Active +GARD:10281,Active,Orphanet+OMIM,OMIM:180500,Subtype of disorder,[Malformation syndrome subtype],"Axenfeld-rieger syndrome, type 1","[rgs, Rieger syndrome, type 1, rieg]","Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals ({12:Fitch and Kaback, 1978}). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia ({1:Alkemade, 1969}).\n\n<Subhead> Genetic Heterogeneity of Axenfeld-Rieger Syndrome\n\nLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; {601499}). A third form of Axenfeld-Rieger syndrome (RIEG3; {602482}) is caused by mutation in the FOXC1 gene ({601090}) on chromosome 6p25.\n\nSee {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.",[180500],[782],[Axenfeld-Rieger syndrome],[5701],,Axenfeld-Rieger syndrome type 1,TRUE,FALSE,Retired +GARD:10282,Legacy,GARD,,,,,,,,,,,,Lin-Gettig syndrome,TRUE,FALSE,Active +GARD:10283,Active,Orphanet,ORPHA:35107,Disorder,[Disease],Desmosterolosis,,"Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.",[602398],,,,,Desmosterolosis,TRUE,FALSE,Active +GARD:10284,Legacy,GARD,,,,,,,,,,,,Acanthocytosis,TRUE,FALSE,Retired +GARD:10285,Legacy,GARD,,,,,,,,,,,,Periventricular leukomalacia,TRUE,FALSE,Active +GARD:10286,Legacy,GARD,,,,,,,,,,,,Cluster headache,FALSE,FALSE,Active +GARD:10287,Active,Orphanet,ORPHA:1945,Disorder,[Disease],Rolandic epilepsy,"[BECRS, BECTS, BRE, Benign epilepsy of childhood with centrotemporal spikes, Benign familial epilepsy of childhood with rolandic spikes, Benign rolandic epilepsy, Centrotemporal epilepsy]","Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.","[117100, 245570]",,,,,Benign rolandic epilepsy (BRE),TRUE,FALSE,Active +GARD:10288,Active,Orphanet,ORPHA:98908,Disorder,[Disease],Neutral lipid storage myopathy,"[NLSDM, Neutral lipid storage disease with myopathy without ichthyosis]","A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue.",[610717],,,,,Neutral lipid storage disease with myopathy,TRUE,FALSE,Active +GARD:10289,Legacy,GARD,,,,,,,,,,,,Krabbe disease atypical due to Saposin A deficiency,TRUE,FALSE,Active +GARD:1029,Active,Orphanet,ORPHA:2771,Disorder,[Malformation syndrome],Bruck syndrome,[Osteogenesis imperfecta-congenital joint contractures syndrome],Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.,"[609220, 259450]",,,,,Bruck syndrome 1,TRUE,FALSE,Active +GARD:10290,Active,Orphanet,ORPHA:166277,Disorder,[Malformation syndrome],Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,[Suarez-Stickler syndrome],"A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.",[604922],,,,,Cortical defects wormian bones and dentinogenesis imperfecta,TRUE,FALSE,Active +GARD:10291,Active,Orphanet,ORPHA:2612,Disorder,[Disease],Linear nevus sebaceus syndrome,"[Nevus sebaceus of Jadassohn, Nevus sebaceus syndrome, Organoid nevus syndrome, Schimmelpenning syndrome, Solomon syndrome]","A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.",[163200],,,,,Linear nevus sebaceous syndrome,TRUE,FALSE,Active +GARD:10292,Legacy,GARD,,,,,,,,,,,,"Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities",TRUE,FALSE,Retired +GARD:10293,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation,TRUE,FALSE,Retired +GARD:10294,Active,Orphanet,ORPHA:139485,Disorder,[Disease],Autosomal recessive ataxia due to ubiquinone deficiency,"[ARCA2, Autosomal recessive ataxia due to coenzyme Q10 deficiency, Autosomal recessive cerebellar ataxia type 2, Autosomal recessive spinocerebellar ataxia type 9, SCAR9]",This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.,"[619028, 612016]",,,,,Autosomal recessive spinocerebellar ataxia 9,TRUE,FALSE,Active +GARD:10295,Active,Orphanet,ORPHA:140952,Disorder,[Malformation syndrome],Syndactyly-telecanthus-anogenital and renal malformations syndrome,[STAR syndrome],"A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.",[300707],,,,,STAR syndrome,TRUE,FALSE,Active +GARD:10296,Active,Orphanet,ORPHA:199318,Disorder,[Malformation syndrome],15q13.3 microdeletion syndrome,"[Del(15)(q13.3), Monosomy 15q13.3]",15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.,[612001],,,,,15q13.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:10297,Active,Orphanet,ORPHA:1802,Disorder,[Malformation syndrome],Ghosal hematodiaphyseal dysplasia,"[Diaphyseal dysplasia-anemia syndrome, Ghosal syndrome]",Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.,[231095],,,,,Ghosal hematodiaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:10298,Legacy,GARD,,,,,,,,,,,,"Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies",TRUE,FALSE,Retired +GARD:10299,Active,Orphanet,ORPHA:567,Disorder,[Malformation syndrome],22q11.2 deletion syndrome,"[22q11DS, CATCH 22, Cayler cardiofacial syndrome, Conotruncal anomaly face syndrome, DiGeorge sequence, DiGeorge syndrome, Microdeletion 22q11.2, Monosomy 22q11, Sedlackova syndrome, Shprintzen syndrome, Takao syndrome, Velocardiofacial syndrome]","A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.","[188400, 192430]",,,,,22q11.2 deletion syndrome,TRUE,FALSE,Active +GARD:1030,Active,Orphanet,ORPHA:130,Disorder,[Disease],Brugada syndrome,"[Idiopathic ventricular fibrillation, Brugada type]","A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.","[611876, 616399, 601144, 613119, 613123, 611875, 612838, 611777, 613120]",,,,,Brugada syndrome,TRUE,FALSE,Active +GARD:10300,Active,Orphanet,ORPHA:139450,Disorder,[Malformation syndrome],Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,[Balikova-Vermeesch syndrome],"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.",[611863],,,,,Microtia eye coloboma and imperforation of the nasolacrimal duct,TRUE,FALSE,Active +GARD:10301,Active,Orphanet,ORPHA:139455,Disorder,[Disease],Autosomal recessive bestrophinopathy,"[Retinopathy, Burgess-Black type]","A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).",[611809],,,,,Autosomal recessive bestrophinopathy,TRUE,FALSE,Active +GARD:10302,Active,Orphanet,ORPHA:139466,Disorder,[Malformation syndrome],SERKAL syndrome,"[Sex reversion-kidneys, adrenal and lung dysgenesis syndrome]","SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.",[611812],,,,,SERKAL syndrome,TRUE,FALSE,Active +GARD:10303,Active,Orphanet,ORPHA:137911,Disorder,[Malformation syndrome],Autism-facial port-wine stain syndrome,,A rare pervasive developmental disorder characterized by the presence of a unilateral angioma on the face and autistic developmental problems including language delay and atypical social interactions. The disease may initially resemble Sturge-Weber syndrome.,,,,,,Autism with port-wine stain,TRUE,FALSE,Active +GARD:10304,Active,Orphanet,ORPHA:251076,Disorder,[Malformation syndrome],8p23.1 duplication syndrome,"[Dup(8)(p23.1p23.1), Trisomy 8p23.1]","8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).",,,,,,8p23.1 duplication syndrome,TRUE,FALSE,Active +GARD:10305,Legacy,GARD,,,,,,,,,,,,"Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia",TRUE,FALSE,Retired +GARD:10306,Active,Orphanet,ORPHA:93606,Disorder,[Disease],Nephrogenic syndrome of inappropriate antidiuresis,[NSIAD],"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.",[300539],,,,,Syndrome of inappropriate antidiuretic hormone,FALSE,FALSE,Active +GARD:10307,Active,Orphanet,ORPHA:137,Group of disorders,[Category],Congenital disorder of glycosylation,"[CDG, Carbohydrate deficient glycoprotein syndrome]","A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.",,,,,,Congenital disorders of glycosylation,TRUE,FALSE,Active +GARD:10308,Legacy,GARD,,,,,,,,,,,,Scleroderma,FALSE,FALSE,Active +GARD:10309,Legacy,GARD,,,,,,,,,,,,Mannose-binding lectin protein deficiency,FALSE,FALSE,Active +GARD:10310,Legacy,GARD,,,,,,,,,,,,Autoimmune atrophic gastritis,FALSE,FALSE,Active +GARD:10311,Active,Orphanet,ORPHA:70592,Disorder,[Disease],Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,[IRAK4 deficiency],Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.,[607676],,,,,IRAK-4 deficiency,TRUE,FALSE,Active +GARD:10312,Active,Orphanet,ORPHA:85146,Disorder,[Disease],"Neurogenic scapuloperoneal syndrome, Kaeser type","[Kaeser syndrome, Stark-Kaeser syndrome]","A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.",[181400],,,,,"Scapuloperoneal syndrome, neurogenic, Kaeser type",TRUE,FALSE,Active +GARD:10313,Active,Orphanet,ORPHA:437572,Disorder,[Disease],MYH7-related late-onset scapuloperoneal muscular dystrophy,"[MYH7-related late-onset SPMD, MYH7-related late-onset scapuloperoneal syndrome]",,[181430],,,,,MYH7-related scapuloperoneal myopathy,TRUE,FALSE,Active +GARD:10314,Active,Orphanet,ORPHA:431255,Disorder,[Disease],Scapuloperoneal spinal muscular atrophy,"[Neurogenic scapuloperoneal amyotrophy, New England type, SPSMA, Scapuloperoneal neuronopathy]","A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.",[181405],,,,,"Amyotrophy, neurogenic scapuloperoneal, New England type",TRUE,FALSE,Active +GARD:10316,Active,Orphanet,ORPHA:98905,Subtype of disorder,[Clinical subtype],Congenital multicore myopathy with external ophthalmoplegia,,,[255320],,,,,Minicore myopathy with external ophthalmoplegia,TRUE,FALSE,Active +GARD:10317,Active,Orphanet,ORPHA:280671,Disorder,[Disease],Megaconial congenital muscular dystrophy,"[Congenital megaconial myopathy, Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, Congenital muscular dystrophy with mitochondrial structural abnormalities]","A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.",[602541],,,,,"Muscular dystrophy, congenital, megaconial type",TRUE,FALSE,Active +GARD:10318,Legacy,GARD,,,,,,,,,,,,Pleoconial myopathy with salt craving,TRUE,FALSE,Active +GARD:10319,Active,Orphanet,ORPHA:2964,Disorder,[Malformation syndrome],Autosomal dominant prognathism,,"A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.",[176700],,,,,Prognathism mandibular,TRUE,FALSE,Active +GARD:1032,Legacy,GARD,,,,,,,,,,,,Brunoni syndrome,TRUE,FALSE,Retired +GARD:10320,Active,Orphanet+OMIM,OMIM:608471,Subtype of disorder,[Disease subtype],"Corneal dystrophy, lattice type iiia","[Lattice corneal dystrophy, type iiia]","Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age ({3:Yamamoto et al., 1998}).",[608471],[98964],[Lattice corneal dystrophy type I],[9678],,Lattice corneal dystrophy type 3A,TRUE,FALSE,Active +GARD:10321,Active,Orphanet,ORPHA:67046,Disorder,[Disease],3-methylglutaconic aciduria type 1,"[3-methylglutaconyl-CoA hydratase deficiency, 3MG-CoA hydratase deficiency, MGA1]","3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.",[250950],,,,,3-methylglutaconyl-CoA hydratase deficiency (AUH defect),TRUE,FALSE,Active +GARD:10322,Active,Orphanet,ORPHA:79157,Disorder,[Disease],2-methylbutyryl-CoA dehydrogenase deficiency,"[2-methylbutyric aciduria, Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency, SBCAD deficiency, Short/branched-chain acyl-coA dehydrogenase deficiency]","A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.",[610006],,,,,2-methylbutyryl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:10323,Active,Orphanet,ORPHA:35704,Disorder,[Disease],L-Arginine:glycine amidinotransferase deficiency,[AGAT deficiency],"L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.",[612718],,,,,L-arginine:glycine amidinotransferase deficiency,TRUE,FALSE,Active +GARD:10324,Active,Orphanet,ORPHA:79253,Subtype of disorder,[Clinical subtype],Mild phenylketonuria,"[Mild PKU, Variant PKU, Variant phenylketonuria, mPKU]","A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.",,,,,,Mild phenylketonuria,TRUE,FALSE,Active +GARD:10325,Legacy,GARD,,,,,,,,,,,,"Carnitine palmitoyltransferase I deficiency , muscle",TRUE,FALSE,Retired +GARD:10326,Legacy,GARD,,,,,,,,,,,,Congenital toxoplasmosis,FALSE,FALSE,Active +GARD:10327,Active,Orphanet,ORPHA:431361,Disorder,[Disease],Progressive encephalopathy with leukodystrophy due to DECR deficiency,"[2,4-dienoyl-CoA reductase deficiency, DECR deficiency with hyperlysinemia]","Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.",[616034],,,,,"2,4-Dienoyl-CoA reductase deficiency",TRUE,FALSE,Active +GARD:10328,Legacy,GARD,,,,,,,,,,,,Congenital human immunodeficiency virus,TRUE,FALSE,Active +GARD:10329,Legacy,GARD,,,,,,,,,,,,Medium-chain 3-ketoacyl-coa thiolase deficiency,TRUE,FALSE,Active +GARD:1033,Active,Orphanet,ORPHA:47,Subtype of disorder,[Clinical subtype],X-linked agammaglobulinemia,"[BTK-deficiency, Bruton type agammaglobulinemia]","A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.","[300310, 300755]",,,,,X-linked agammaglobulinemia,TRUE,FALSE,Active +GARD:10330,Legacy,GARD,,,,,,,,,,,,Pontine hemorrhage,FALSE,FALSE,Active +GARD:10332,Active,Orphanet,ORPHA:69723,Disorder,[Disease],Tyrosinemia type 3,"[Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency, Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency, Tyrosinemia due to HPD deficiency, Tyrosinemia type III]","Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.",[276710],,,,,Tyrosinemia type 3,TRUE,FALSE,Active +GARD:10333,Active,Orphanet,ORPHA:251359,Disorder,[Disease],Sickle cell-beta-thalassemia disease syndrome,[HbS-beta-thalassemia syndrome],"A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.",,,,,,Sickle beta thalassemia,TRUE,FALSE,Active +GARD:10334,Legacy,GARD,,,,,,,,,,,,Diffuse gastric cancer,TRUE,FALSE,Active +GARD:10335,Active,Orphanet,ORPHA:579,Disorder,[Disease],Mucopolysaccharidosis type 1,"[Alpha-L-iduronidase deficiency, MPS1, MPSI, Mucopolysaccharidosis type I]","Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.","[607016, 607014, 607015]",,,,,Mucopolysaccharidosis type I,TRUE,FALSE,Active +GARD:10336,Legacy,GARD,,,,,,,,,,,,Cytochrome p450 2D6 variant,FALSE,FALSE,Active +GARD:10339,Active,Orphanet,ORPHA:331206,Disorder,[Disease],Severe combined immunodeficiency due to complete RAG1/2 deficiency,[SCID due to complete RAG1/2 deficiency],"Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.",[601457],,,,,Severe combined immunodeficiency due to complete RAG1/2 deficiency,TRUE,FALSE,Active +GARD:1034,Legacy,GARD,,,,,,,,,,,,Bruyn Scheltens syndrome,TRUE,FALSE,Active +GARD:10340,Legacy,GARD,,,,,,,,,,,,Ménière's disease,FALSE,FALSE,Active +GARD:10341,Active,Orphanet,ORPHA:83473,Disorder,[Malformation syndrome],Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,[MPPH syndrome],"A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.","[615938, 603387, 615937]",,,,,Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome,TRUE,FALSE,Active +GARD:10342,Active,Orphanet,ORPHA:67048,Disorder,[Disease],3-methylglutaconic aciduria type 4,[MGA4],"3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).",[250951],,,,,Not otherwise specified 3-MGA-uria type,TRUE,FALSE,Active +GARD:10343,Legacy,GARD,,,,,,,,,,,,Charles Bonnet syndrome,TRUE,FALSE,Active +GARD:10344,Legacy,GARD,,,,,,,,,,,,3 methylglutaconic aciduria type V,TRUE,FALSE,Retired +GARD:10345,Legacy,GARD,,,,,,,,,,,,Dermal eccrine cylindroma,TRUE,FALSE,Active +GARD:10346,Active,Orphanet,ORPHA:100026,Subtype of disorder,[Clinical subtype],Gamma-heavy chain disease,"[Franklin disease, Gamma-HCD]",A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.,,,,,,Gamma heavy chain disease,TRUE,FALSE,Active +GARD:10347,Legacy,GARD,,,,,,,,,,,,Bizarre parosteal osteochondromatous proliferation,TRUE,FALSE,Active +GARD:10349,Legacy,GARD,,,,,,,,,,,,Lymphocytic hypophysitis,TRUE,FALSE,Active +GARD:10350,Legacy,GARD,,,,,,,,,,,,Acquired hemophilia,TRUE,FALSE,Active +GARD:10351,Active,Orphanet,ORPHA:98758,Disorder,[Disease],Spinocerebellar ataxia type 6,[SCA6],An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.,[183086],,,,,Spinocerebellar ataxia type 6,TRUE,FALSE,Active +GARD:10352,Active,Orphanet,ORPHA:71290,Disorder,[Disease],Familial platelet disorder with associated myeloid malignancy,"[FPD/AML, FPDMM, FPS/AML, Familial platelet disorder with predisposition to acute myelogenous leukemia, Familial platelet disorder with predisposition to myeloid malignancy, Familial platelet disorder with propensity to acute myeloid leukemia, Familial thrombocytopenia with propensity to acute myelogenous leukemia]","A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.","[601399, 616216]",,,,,Familial platelet disorder with associated myeloid malignancy,TRUE,FALSE,Active +GARD:10353,Active,Orphanet,ORPHA:738,Group of disorders,[Clinical group],Porphyria,,"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.",,,,,,Porphyria,TRUE,FALSE,Active +GARD:10354,Active,Orphanet,ORPHA:496693,Disorder,[Malformation syndrome],Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,[Gershoni-Baruch syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.",[609545],,,,,Gershoni-Baruch syndrome,TRUE,FALSE,Active +GARD:10355,Active,Orphanet,ORPHA:91498,Disorder,[Disease],Familial congenital palsy of trochlear nerve,,"Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.",[136480],,,,,Familial congenital palsy of trochlear nerve,TRUE,FALSE,Active +GARD:10356,Legacy,GARD,,,,,,,,,,,,"Platelet disorder, familial, with associated myeloid malignancy",TRUE,FALSE,Retired +GARD:10357,Legacy,GARD,,,,,,,,,,,,Primary release disorder of platelets,TRUE,FALSE,Active +GARD:10358,Active,Orphanet,ORPHA:166108,Disorder,[Disease],"Intellectual disability, Birk-Barel type",[Intellectual disability-hypotonia-facial dysmorphism syndrome],"Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.",[612292],,,,,Birk-Barel syndrome,TRUE,FALSE,Active +GARD:10359,Active,Orphanet+OMIM,OMIM:168100,Subtype of disorder,[Disease subtype],"Paralysis agitans, juvenile, of hunt","[Parkinson disease, juvenile, of hunt]",,[168100],[171695],[Parkinsonian-pyramidal syndrome],[9175],,"Paralysis agitans, juvenile, of Hunt",TRUE,FALSE,Active +GARD:10360,Active,Orphanet,ORPHA:251038,Disorder,[Malformation syndrome],3q29 microduplication syndrome,[Trisomy 3q29],3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.,[611936],,,,,Chromosome 3q29 microduplication syndrome,TRUE,FALSE,Active +GARD:10361,Active,Orphanet+OMIM,OMIM:611875,Subtype of disorder,[Disease subtype],Brugada syndrome 3,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[611875],[130],[Brugada syndrome],[1030],,Brugada syndrome 3,TRUE,FALSE,Active +GARD:10362,Active,Orphanet+OMIM,OMIM:611876,Subtype of disorder,[Disease subtype],Brugada syndrome 4,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 ({601144}).",[611876],[130],[Brugada syndrome],[1030],,Brugada syndrome 4,TRUE,FALSE,Active +GARD:10363,Active,Orphanet,ORPHA:79153,Disorder,[Disease],Idiopathic trachyonychia,,"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.",[161050],,,,,Twenty-nail dystrophy,TRUE,FALSE,Active +GARD:10364,Active,Orphanet+OMIM,OMIM:612347,Subtype of disorder,[Disease subtype],Jervell and lange-nielsen syndrome 2,,"The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness.\n\nFor a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see {220400}.",[612347],[90647],[Jervell and Lange-Nielsen syndrome],[3048],,Jervell and Lange-Nielsen syndrome 2,TRUE,FALSE,Retired +GARD:10365,Active,Orphanet,ORPHA:70594,Disorder,[Disease],Dopa-responsive dystonia due to sepiapterin reductase deficiency,"[Autosomal recessive sepiapterin reductase-deficient DRD, DRD due to SRD, SPR deficiency, Sepiapterin reductase deficiency]","Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.",[612716],,,,,Sepiapterin reductase deficiency,TRUE,FALSE,Active +GARD:10366,Active,Orphanet,ORPHA:3339,Disorder,[Malformation syndrome],Toriello-Lacassie-Droste syndrome,"[Aplasia cutis congenita-epibulbar dermoids syndrome, Oculoectodermal syndrome]",A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital.,[600268],,,,,Oculoectodermal syndrome,TRUE,FALSE,Active +GARD:10367,Active,Orphanet,ORPHA:140936,Disorder,[Malformation syndrome],Lelis syndrome,[Ectodermal dysplasia-acanthosis nigricans syndrome],Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.,[608290],,,,,Lelis syndrome,TRUE,FALSE,Active +GARD:10369,Legacy,GARD,,,,,,,,,,,,Carotidynia,FALSE,FALSE,Active +GARD:1037,Active,Orphanet,ORPHA:2285,Disorder,[Morphological anomaly],Primary basilar invagination,[Bull-Nixon syndrome],A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction.,[109500],,,,,Primary basilar impression,TRUE,FALSE,Active +GARD:10370,Legacy,GARD,,,,,,,,,,,,Rhabdomyomatous mesenchymal hamartoma,TRUE,FALSE,Active +GARD:10371,Legacy,GARD,,,,,,,,,,,,Immunoglobulin G deficiency,FALSE,FALSE,Active +GARD:10372,Active,Orphanet,ORPHA:103909,Disorder,[Disease],Trehalase deficiency,[Isolated trehalose intolerance],"A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.",[612119],,,,,Trehalase deficiency,TRUE,FALSE,Active +GARD:10373,Active,Orphanet+OMIM,OMIM:612099,Subtype of disorder,[Clinical subtype],"Trichoepithelioma, multiple familial, 2",,"Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.\n\nSee also MFT1 ({601606}), which is caused by mutations in the CYLD gene ({605018}) on chromosome 16q12-q13.",[612099],[867],[Familial multiple trichoepithelioma],[10867],,Multiple familial trichoepithelioma 2,TRUE,FALSE,Retired +GARD:10374,Legacy,GARD,,,,,,,,,,,,Trachoma,TRUE,FALSE,Active +GARD:10375,Legacy,GARD,,,,,,,,,,,,Clostridium difficile,FALSE,FALSE,Active +GARD:10376,Active,Orphanet+OMIM,OMIM:600105,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 12,"[Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium, rp with or without preserved paraarteriole retinal pigment epithelium, rp with or without pprpe]",,[600105],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 12,TRUE,FALSE,Active +GARD:10377,Active,Orphanet+OMIM,OMIM:312612,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 6,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[312612],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 6,TRUE,FALSE,Active +GARD:10378,Active,Orphanet+OMIM,OMIM:612165,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 29,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[612165],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 29,TRUE,FALSE,Active +GARD:10379,Active,Orphanet+OMIM,OMIM:612095,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 41,"[Retinal degeneration, autosomal recessive, prominin-related]",,[612095],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 41,TRUE,FALSE,Active +GARD:1038,Active,Orphanet,ORPHA:1867,Disorder,[Disease],"Hereditary bullous dystrophy, macular type",,"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.",[302000],,,,,Bullous dystrophy hereditary macular type,TRUE,FALSE,Active +GARD:10380,Active,Orphanet+OMIM,OMIM:312600,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 2,,"Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population ({7:Boughman et al., 1980}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[312600],[791],[Retinitis pigmentosa],[5694],,"Retinitis pigmentosa 2, X-linked",TRUE,FALSE,Retired +GARD:10381,Active,Orphanet+OMIM,OMIM:300029,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 3,"[cone-rod degeneration, x-linked, choroidoretinal degeneration with retinal reflex in heterozygous women, Retinitis pigmentosa 15]","X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors ({15:Demirci et al., 2002}). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP ({22:Jin et al., 2007}). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP ({38:Vervoort et al., 2000}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300029],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 3,TRUE,FALSE,Active +GARD:10382,Active,Orphanet+OMIM,OMIM:180104,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 9,,"Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by {4:Jay et al., 1992}).",[180104],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 9,TRUE,FALSE,Active +GARD:10383,Active,Orphanet+OMIM,OMIM:600138,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 11,,"Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[600138],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 11,TRUE,FALSE,Active +GARD:10384,Active,Orphanet+OMIM,OMIM:602772,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 25,,,[602772],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 25,TRUE,FALSE,Active +GARD:10385,Active,Orphanet+OMIM,OMIM:600132,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 14,,,[600132],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 14,TRUE,FALSE,Active +GARD:10386,Active,Orphanet+OMIM,OMIM:608133,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 7,,,[608133],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 7,TRUE,FALSE,Active +GARD:10387,Active,Orphanet+OMIM,OMIM:600852,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 17,,"Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life ({4:de Bruijn et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[600852],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 17,TRUE,FALSE,Active +GARD:10388,Active,Orphanet+OMIM,OMIM:600059,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 13,,,[600059],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 13,TRUE,FALSE,Active +GARD:10389,Active,Orphanet+OMIM,OMIM:300155,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 24,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300155],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 24,TRUE,FALSE,Active +GARD:1039,Active,Orphanet,ORPHA:312,Disorder,[Disease],Autosomal dominant epidermolytic ichthyosis,"[BCIE, Bullous congenital ichthyosiform erythroderma, Bullous congenital ichthyosiform erythroderma of Brock, Bullous ichthyosis, EHK, EI, Epidermolytic hyperkeratosis, Ichthyosis hystrix Brocq type]","Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.","[607602, 113800]",,,,,Epidermolytic ichthyosis,TRUE,FALSE,Active +GARD:10390,Active,Orphanet+OMIM,OMIM:300605,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 34,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300605],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 34,TRUE,FALSE,Active +GARD:10391,Active,Orphanet+OMIM,OMIM:300424,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 23,,,[300424],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 23,TRUE,FALSE,Active +GARD:10392,Active,Orphanet+OMIM,OMIM:601414,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 18,,,[601414],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 18,TRUE,FALSE,Active +GARD:10393,Active,Orphanet+OMIM,OMIM:602594,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 22,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[602594],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 22,TRUE,FALSE,Active +GARD:10394,Active,Orphanet+OMIM,OMIM:606068,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 28,,,[606068],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 28,TRUE,FALSE,Active +GARD:10395,Active,Orphanet+OMIM,OMIM:609913,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 32,,,[609913],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 32,TRUE,FALSE,Active +GARD:10396,Active,Orphanet+OMIM,OMIM:609923,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 31,,,[609923],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 31,TRUE,FALSE,Active +GARD:10397,Active,Orphanet+OMIM,OMIM:608380,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 26,,,[608380],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 26,TRUE,FALSE,Active +GARD:10398,Active,Orphanet+OMIM,OMIM:601718,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 19,,,[601718],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 19,TRUE,FALSE,Active +GARD:10399,Legacy,GARD,,,,,,,,,,,,Retinitis Pigmentosa 15,TRUE,FALSE,Active +GARD:104,Active,Orphanet,ORPHA:2704,Disorder,[Malformation syndrome],Ochoa syndrome,"[Hydronephrosis-inverted smile syndrome, Inverted smile-neurogenic bladder syndrome, Partial facial palsy with urinary abnormalities, Urofacial syndrome]",Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.,"[236730, 615112]",,,,,Ochoa syndrome,TRUE,FALSE,Active +GARD:10400,Active,Orphanet+OMIM,OMIM:610359,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 33,,,[610359],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 33,TRUE,FALSE,Active +GARD:10401,Active,Orphanet+OMIM,OMIM:607921,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 30,,,[607921],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 30,TRUE,FALSE,Active +GARD:10402,Active,Orphanet+OMIM,OMIM:610282,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 35,,,[610282],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 35,TRUE,FALSE,Active +GARD:10403,Active,Orphanet+OMIM,OMIM:610599,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 36,,,[610599],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 36,TRUE,FALSE,Active +GARD:10404,Active,Orphanet+OMIM,OMIM:613794,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 20,,,[613794],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 20,TRUE,FALSE,Active +GARD:10405,Active,Orphanet+OMIM,OMIM:613731,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 4,"[Retinitis pigmentosa, rhodopsin-related]",,[613731],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 4,TRUE,FALSE,Active +GARD:10406,Legacy,GARD,,,,,,,,,,,,Scurvy,TRUE,FALSE,Active +GARD:10407,Active,Orphanet,ORPHA:293987,Disorder,[Disease],Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,"[ROHHAD, ROHHADNET, Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome]","A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.",,,,,,ROHHAD,TRUE,FALSE,Active +GARD:10409,Legacy,GARD,,,,,,,,,,,,Digestive System Melanoma,TRUE,FALSE,Active +GARD:1041,Legacy,GARD,,,,,,,,,,,,Burn Goodship syndrome,TRUE,FALSE,Active +GARD:10410,Legacy,GARD,,,,,,,,,,,,Primary malignant melanoma of the conjunctiva,TRUE,FALSE,Active +GARD:10411,Active,Orphanet,ORPHA:370396,Disorder,[Disease],Small cell carcinoma of the ovary,"[SCCO, Small cell ovarian carcinoma]","Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.",,,,,,Ovarian small cell carcinoma,TRUE,FALSE,Active +GARD:10412,Legacy,GARD,,,,,,,,,,,,Spitz nevus,TRUE,FALSE,Active +GARD:10413,Active,Orphanet,ORPHA:730,Disorder,[Disease],Autosomal dominant polycystic kidney disease,[ADPKD],"A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).","[600666, 613095, 173900]",,,,,Autosomal dominant polycystic kidney disease,FALSE,FALSE,Active +GARD:10414,Active,Orphanet,ORPHA:329984,Subtype of disorder,[Clinical subtype],Goblet cell carcinoma,"[GCC, Goblet cell adenocarcinoid, Goblet cell carcinoid, Goblet cell tumor]","Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.",,,,,,Goblet cell carcinoid,TRUE,FALSE,Active +GARD:10415,Legacy,GARD,,,,,,,,,,,,Familial breast cancer,FALSE,FALSE,Active +GARD:10416,Active,Orphanet,ORPHA:391665,Disorder,[Disease],Homozygous familial hypercholesterolemia,[HoFH],"A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.","[143890, 144010, 602247, 603813]",,,,,Familial hypercholesterolemia,FALSE,FALSE,Active +GARD:10417,Active,Orphanet,ORPHA:465508,Disorder,[Disease],Symptomatic form of hemochromatosis type 1,"[Symptomatic form of HFE-related hereditary hemochromatosis, Symptomatic form of classic hemochromatosis]","Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.",[235200],,,,,Hemochromatosis type 1,FALSE,FALSE,Active +GARD:10418,Active,Orphanet,ORPHA:448,Group of disorders,[Clinical group],Hemophilia,,A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.,,,,,,Hemophilia,TRUE,FALSE,Active +GARD:10419,Active,Orphanet,ORPHA:206647,Group of disorders,[Clinical group],Myotonic dystrophy,,,,,,,,Myotonic dystrophy,TRUE,FALSE,Active +GARD:1042,Legacy,GARD,,,,,,,,,,,,Burnett Schwartz Berberian syndrome,TRUE,FALSE,Retired +GARD:10420,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis,TRUE,FALSE,Active +GARD:10421,Legacy,GARD,,,,,,,,,,,,Skin cancer,FALSE,FALSE,Active +GARD:10422,Legacy,GARD,,,,,,,,,,,,Cholesteatoma,TRUE,FALSE,Active +GARD:10423,Active,Orphanet,ORPHA:35656,Group of disorders,[Clinical group],Coenzyme Q10 deficiency,[CoQ10 deficiency],,,,,,,Coenzyme Q10 deficiency,TRUE,FALSE,Active +GARD:10424,Active,Orphanet,ORPHA:199354,Disorder,[Disease],Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,"[CARASIL, Maeda syndrome]","CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.",[600142],,,,,Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy,TRUE,FALSE,Active +GARD:10426,Legacy,GARD,,,,,,,,,,,,"Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension",TRUE,FALSE,Retired +GARD:10427,Active,Orphanet,ORPHA:181,Subtype of disorder,[Etiological subtype],X-linked hypohidrotic ectodermal dysplasia,"[Christ-Siemens-Touraine syndrome, X-linked anhidrotic ectodermal dysplasia, XHED]",,[305100],,,,,X-linked hypohidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:10428,Active,Orphanet,ORPHA:441,Disorder,[Disease],Pure autonomic failure,"[Bradbury-Eggleston syndrome, Idiopathic orthostatic hypotension, PAF, Pure dysautonomia, Pure idiopatic dysautonomia]",Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.,,,,,,Pure autonomic failure,TRUE,FALSE,Active +GARD:10429,Active,Orphanet,ORPHA:93304,Disorder,[Malformation syndrome],Autosomal dominant brachyolmia,[Brachyolmia type 3],"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.",[113500],,,,,Brachyolmia type 3,TRUE,FALSE,Active +GARD:10430,Active,Orphanet,ORPHA:33069,Disorder,[Disease],Dravet syndrome,"[SMEI, Severe myoclonic epilepsy of infancy, Severe myoclonus epilepsy of infancy]","A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.","[607208, 612164, 615744]",,,,,Dravet syndrome,TRUE,FALSE,Active +GARD:10431,Legacy,GARD,,,,,,,,,,,,Endemic Kaposi sarcoma,TRUE,FALSE,Active +GARD:10432,Active,Orphanet+OMIM,OMIM:600919,Subtype of disorder,[Disease subtype],"Cardiac arrhythmia, ankyrin-b-related",[Ankyrin-b syndrome],"Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, {106410.0001}) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia ({1:Mohler et al., 2007}).",[600919],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 4,TRUE,FALSE,Active +GARD:10433,Active,Orphanet+OMIM,OMIM:613695,Subtype of disorder,[Disease subtype],Long qt syndrome 5,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613695],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 5,TRUE,FALSE,Active +GARD:10434,Active,Orphanet+OMIM,OMIM:613693,Subtype of disorder,[Disease subtype],Long qt syndrome 6,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613693],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 6,TRUE,FALSE,Active +GARD:10435,Active,Orphanet+OMIM,OMIM:611818,Subtype of disorder,[Disease subtype],Long qt syndrome 9,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[611818],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 9,TRUE,FALSE,Active +GARD:10436,Active,Orphanet+OMIM,OMIM:611819,Subtype of disorder,[Disease subtype],Long qt syndrome 10,,,[611819],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 10,TRUE,FALSE,Active +GARD:10437,Active,Orphanet+OMIM,OMIM:611820,Subtype of disorder,[Disease subtype],Long qt syndrome 11,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).",[611820],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 11,TRUE,FALSE,Active +GARD:10438,Legacy,GARD,,,,,,,,,,,,Microcystic adnexal carcinoma,TRUE,FALSE,Active +GARD:10439,Legacy,GARD,,,,,,,,,,,,Hidradenocarcinoma,TRUE,FALSE,Active +GARD:1044,Active,Orphanet,ORPHA:1306,Disorder,[Malformation syndrome],Buschke-Ollendorff syndrome,[Disseminated dermatofibrosis with osteopoikilosis],Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.,[166700],,,,,Buschke-Ollendorff syndrome,TRUE,FALSE,Active +GARD:10440,Legacy,GARD,,,,,,,,,,,,Neonatal meningitis,TRUE,FALSE,Active +GARD:10441,Legacy,GARD,,,,,,,,,,,,Lathyrism,TRUE,FALSE,Active +GARD:10442,Legacy,GARD,,,,,,,,,,,,Cassavism,TRUE,FALSE,Active +GARD:10443,Active,Orphanet,ORPHA:477738,Disorder,[Disease],Pediatric multiple sclerosis,,"Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.",,,,,,Pediatric multiple sclerosis,TRUE,FALSE,Active +GARD:10444,Legacy,GARD,,,,,,,,,,,,Neonatal stroke,TRUE,FALSE,Active +GARD:10445,Active,Orphanet,ORPHA:101028,Disorder,[Disease],Transaldolase deficiency,[TALDO deficiency],"Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.",[606003],,,,,Transaldolase deficiency,TRUE,FALSE,Active +GARD:10446,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic monoplegic,TRUE,FALSE,Active +GARD:10447,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic quadriplegic,TRUE,FALSE,Active +GARD:10448,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic hemiplegic,TRUE,FALSE,Active +GARD:10449,Legacy,GARD,,,,,,,,,,,,Cerebral palsy athetoid,TRUE,FALSE,Active +GARD:1045,Legacy,GARD,,,,,,,,,,,,Bustos Simosa Pinto Cisternas syndrome,TRUE,FALSE,Active +GARD:10450,Legacy,GARD,,,,,,,,,,,,Cerebral palsy,FALSE,FALSE,Active +GARD:10451,Legacy,GARD,,,,,,,,,,,,Cerebral palsy ataxic,TRUE,FALSE,Active +GARD:10452,Legacy,GARD,,,,,,,,,,,,Hepatic encephalopathy,TRUE,FALSE,Active +GARD:10453,Active,Orphanet,ORPHA:178509,Disorder,[Disease],Perry syndrome,[Parkinsonism with alveolar hypoventilation and mental depression],"A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.",[168605],,,,,Perry syndrome,TRUE,FALSE,Active +GARD:10454,Legacy,GARD,,,,,,,,,,,,Brunsting-Perry syndrome,TRUE,FALSE,Active +GARD:10455,Legacy,GARD,,,,,,,,,,,,Familial pulmonary arterial hypertension leucopenia and atrial septal defect,TRUE,FALSE,Active +GARD:10456,Legacy,GARD,,,,,,,,,,,,Polyosteolysis/hyperostosis syndrome,TRUE,FALSE,Active +GARD:10457,Active,Orphanet,ORPHA:99885,Disorder,[Disease],Isolated permanent neonatal diabetes mellitus,"[Isolated PNDM, Monogenic diabetes of infancy]","Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.","[618856, 618857, 606176, 618858]",,,,,Permanent neonatal diabetes mellitus,TRUE,FALSE,Active +GARD:10458,Legacy,GARD,,,,,,,,,,,,"Recessive developmental delay, small stature, microcephaly and brain calcifications",TRUE,FALSE,Draft +GARD:10459,Legacy,GARD,,,,,,,,,,,,Cerebrocostomandibular-like syndrome,TRUE,FALSE,Active +GARD:10460,Active,Orphanet,ORPHA:438274,Disorder,[Disease],GCGR-related hyperglucagonemia,[Mahvash disease],"A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.",[619290],,,,,Mahvash disease,TRUE,FALSE,Active +GARD:10463,Legacy,GARD,,,,,,,,,,,,Papillary eccrine adenoma,TRUE,FALSE,Active +GARD:10464,Legacy,GARD,,,,,,,,,,,,Malignant cylindroma,TRUE,FALSE,Active +GARD:10465,Legacy,GARD,,,,,,,,,,,,Eccrine mucinous carcinoma,TRUE,FALSE,Active +GARD:10466,Legacy,GARD,,,,,,,,,,,,Malignant eccrine spiradenoma,TRUE,FALSE,Active +GARD:10467,Active,Orphanet,ORPHA:464321,Disorder,[Disease],Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,"[Cutaneovisceral angiomatosis-thrombocytopenia syndrome, MLT, Multifocal lymphangioendotheliomatosis with thrombocytopenia]","A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.",,,,,,Multifocal lymphangioendotheliomatosis with thrombocytopenia,TRUE,FALSE,Active +GARD:10468,Legacy,GARD,,,,,,,,,,,,Cardiac rupture,TRUE,FALSE,Active +GARD:10469,Active,Orphanet,ORPHA:98759,Disorder,[Disease],Spinocerebellar ataxia type 17,"[HDL4, Huntington disease-like 4, SCA17]","Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.",[607136],,,,,Spinocerebellar ataxia 17,TRUE,FALSE,Active +GARD:10470,Legacy,GARD,,,,,,,,,,,,BK-virus nephropathy,TRUE,FALSE,Active +GARD:10471,Active,Orphanet,ORPHA:34514,Disorder,[Disease],Telethonin-related limb-girdle muscular dystrophy R7,"[Autosomal recessive limb-girdle muscular dystrophy type 2G, LGMD due to telethonin deficiency, LGMD type 2G, LGMD2G, Limb-girdle muscular dystrophy due to telethonin deficiency, Limb-girdle muscular dystrophy type 2G, Telethonin-related LGMD R7]","A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.",[601954],,,,,"Limb-girdle muscular dystrophy, type 2G",TRUE,FALSE,Active +GARD:10472,Active,Orphanet,ORPHA:79314,Disorder,[Disease],L-2-hydroxyglutaric aciduria,"[L-2-HGA, L-2-hydroxyglutaric acidemia]","L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.",[236792],,,,,L-2-hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:10473,Legacy,GARD,,,,,,,,,,,,Usual interstitial pneumonia,TRUE,FALSE,Retired +GARD:10474,Active,Orphanet,ORPHA:98761,Disorder,[Disease],Spinocerebellar ataxia type 10,[SCA10],"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.",[603516],,,,,Spinocerebellar ataxia 10,TRUE,FALSE,Active +GARD:10475,Active,Orphanet,ORPHA:98767,Disorder,[Disease],Spinocerebellar ataxia type 11,[SCA11],"A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.",[604432],,,,,Spinocerebellar ataxia 11,TRUE,FALSE,Active +GARD:10476,Active,Orphanet,ORPHA:98762,Disorder,[Disease],Spinocerebellar ataxia type 12,[SCA12],Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.,[604326],,,,,Spinocerebellar ataxia 12,TRUE,FALSE,Active +GARD:10477,Active,Orphanet,ORPHA:98769,Disorder,[Disease],Spinocerebellar ataxia type 15/16,[SCA15/16],"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.",[606658],,,,,Spinocerebellar ataxia 15,TRUE,FALSE,Active +GARD:10480,Active,Orphanet,ORPHA:208513,Disorder,[Disease],Spinocerebellar ataxia type 29,"[Congenital nonprogressive spinocerebellar ataxia, SCA29]","An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.",[117360],,,,,Spinocerebellar ataxia 29,TRUE,FALSE,Active +GARD:10481,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 9,TRUE,FALSE,Active +GARD:10482,Legacy,GARD,,,,,,,,,,,,Indolent B cell lymphoma,TRUE,FALSE,Active +GARD:10483,Legacy,GARD,,,,,,,,,,,,Patent ductus venosus,TRUE,FALSE,Active +GARD:10484,Active,Orphanet,ORPHA:238455,Disorder,[Disease],Infantile dystonia-parkinsonism,"[IPD, PKDYS]",Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.,[613135],,,,,Dopamine transporter deficiency syndrome,TRUE,FALSE,Active +GARD:10485,Legacy,GARD,,,,,,,,,,,,Morphea,TRUE,FALSE,Active +GARD:10486,Active,Orphanet,ORPHA:54595,Disorder,[Disease],Craniopharyngioma,,Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.,,,,,,Craniopharyngioma,TRUE,FALSE,Active +GARD:10487,Active,Orphanet+OMIM,OMIM:611755,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 10,,"Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by {3:den Hollander et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}).",[611755],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 10,TRUE,FALSE,Active +GARD:10488,Active,Orphanet+OMIM,OMIM:613837,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 11,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613837],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 11,TRUE,FALSE,Active +GARD:10489,Active,Orphanet+OMIM,OMIM:610612,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 12,,,[610612],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 12,TRUE,FALSE,Active +GARD:1049,Active,Orphanet,ORPHA:136,Disorder,[Disease],Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,"[CADASIL, Hereditary multi-infarct dementia]",CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.,[125310],,,,,CADASIL,TRUE,FALSE,Active +GARD:10490,Active,Orphanet+OMIM,OMIM:613826,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 6,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613826],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 6,TRUE,FALSE,Active +GARD:10491,Active,Orphanet,ORPHA:86897,Disorder,[Disease],Langerhans cell sarcoma,,"A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor.",,,,,,Langerhans cell sarcoma,TRUE,FALSE,Active +GARD:10493,Active,Orphanet,ORPHA:86873,Disorder,[Disease],Aggressive NK-cell leukemia,"[ANKCL, Aggressive NK-cell lymphoma, NK-cell LGL leukemia, NK-cell large granular lymphocyte leukemia]","An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.",,,,,,Aggressive NK cell leukemia,TRUE,FALSE,Active +GARD:10494,Active,Orphanet,ORPHA:70588,Disorder,[Disease],Meconium aspiration syndrome,,"Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.",,,,,,Meconium aspiration syndrome,TRUE,FALSE,Active +GARD:10495,Legacy,GARD,,,,,,,,,,,,Wilson-Mikity syndrome,TRUE,FALSE,Retired +GARD:10496,Active,Orphanet+OMIM,OMIM:612577,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 11,,,[612577],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 11,TRUE,FALSE,Active +GARD:10497,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 10,TRUE,FALSE,Active +GARD:10498,Active,Orphanet+OMIM,OMIM:611895,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 9,,,[611895],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 9,TRUE,FALSE,Active +GARD:10499,Active,Orphanet+OMIM,OMIM:608627,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 8,,,[608627],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 8,TRUE,FALSE,Active +GARD:105,Active,Orphanet,ORPHA:2719,Disorder,[Malformation syndrome],"Oculocerebral hypopigmentation syndrome, Cross type",[Cross syndrome],"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.",[257800],,,,,Oculocerebral syndrome with hypopigmentation,TRUE,FALSE,Active +GARD:1050,Legacy,GARD,,,,,,,,,,,,"Cafe au lait spots, multiple",TRUE,FALSE,Retired +GARD:10500,Active,Orphanet+OMIM,OMIM:608031,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 7,,"For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400}).",[608031],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 7,TRUE,FALSE,Active +GARD:10501,Active,Orphanet+OMIM,OMIM:606640,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 3,,"Amyotrophic lateral sclerosis-3 (ALS3) is a neurodegenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure, usually within 3 to 5 years of symptom onset ({1:Brown, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[606640],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 3,TRUE,FALSE,Active +GARD:10502,Active,Orphanet,ORPHA:357043,Disorder,[Disease],Amyotrophic lateral sclerosis type 4,"[ALS4, Distal hereditary motor neuropathy with upper motor neuron signs, dHMN with upper motor neuron signs]","A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.",[602433],,,,,Amyotrophic lateral sclerosis type 4,TRUE,FALSE,Active +GARD:10503,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 5,TRUE,FALSE,Active +GARD:10504,Active,Orphanet,ORPHA:63260,Disorder,[Morphological anomaly],Craniorachischisis,,Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.,,,,,,Craniorachischisis,TRUE,FALSE,Active +GARD:10505,Active,Orphanet,ORPHA:98562,Group of disorders,[Category],Cryptophthalmia,,,,,,,,Cryptophthalmos,TRUE,FALSE,Active +GARD:10506,Active,Orphanet,ORPHA:63259,Disorder,[Morphological anomaly],Iniencephaly,,Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.,,,,,,Iniencephaly,TRUE,FALSE,Active +GARD:10507,Legacy,GARD,,,,,,,,,,,,Preauricular sinus,FALSE,FALSE,Active +GARD:10508,Active,Orphanet,ORPHA:89938,Subtype of disorder,[Clinical subtype],Bartter syndrome type 4,"[Bartter syndrome type IV, Bartter syndrome with sensorineural deafness, Bartter syndrome with sensorineural hearing loss]","A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.","[602522, 613090]",,,,,Bartter syndrome type 4,TRUE,FALSE,Active +GARD:10509,Active,Orphanet,ORPHA:79087,Disorder,[Disease],Acquired partial lipodystrophy,"[Barraquer-Simons syndrome, Progressive cephalothoracic lipodystrophy]","A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.",[608709],,,,,Barraquer-Simons syndrome,TRUE,FALSE,Active +GARD:1051,Active,Orphanet,ORPHA:1310,Disorder,[Malformation syndrome],Caffey disease,[Infantile cortical hyperostosis],"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.",[114000],,,,,Caffey disease,TRUE,FALSE,Active +GARD:10510,Active,Orphanet,ORPHA:248111,Disorder,[Disease],Juvenile Huntington disease,"[JHD, Juvenile Huntington chorea]","Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.",[143100],,,,,Juvenile Huntington disease,TRUE,FALSE,Active +GARD:10511,Active,Orphanet+OMIM,OMIM:136900,Subtype of disorder,[Disease subtype],Sorsby fundus dystrophy,"[macular dystrophy, hemorrhagic, Fundus dystrophy, pseudoinflammatory, of sorsby]","Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by {22:Wijesuriya et al., 1996}).",[136900],[59181],[Sorsby pseudoinflammatory fundus dystrophy],[16480],,"Fundus dystrophy, pseudoinflammatory, of Sorsby",TRUE,FALSE,Active +GARD:10512,Legacy,GARD,,,,,,,,,,,,Kniest-like dysplasia with pursed lips and ectopia lentis,TRUE,FALSE,Active +GARD:10513,Active,Orphanet,ORPHA:171866,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, aggrecan type","[SEMD, aggrecan type]","Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.",[612813],,,,,"Spondyloepimetaphyseal dysplasia, Aggrecan type",TRUE,FALSE,Active +GARD:10514,Active,Orphanet,ORPHA:199343,Disorder,[Disease],EAST syndrome,"[Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome, Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome, SeSAME syndrome, Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome, Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome]","A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.",[612780],,,,,SeSAME syndrome,TRUE,FALSE,Active +GARD:10515,Active,Orphanet,ORPHA:95430,Disorder,[Morphological anomaly],Congenital tracheomalacia,[Congenital major airway collapse],"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.",,,,,,Congenital tracheomalacia,TRUE,FALSE,Active +GARD:10516,Active,Orphanet,ORPHA:210115,Disorder,[Disease],Sterile multifocal osteomyelitis with periostitis and pustulosis,"[Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency, DIRA, Interleukin-1 receptor antagonist deficiency, OMPP]","Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.",[612852],,,,,Deficiency of interleukin-1 receptor antagonist,TRUE,FALSE,Active +GARD:10517,Active,Orphanet+OMIM,OMIM:601499,Subtype of disorder,[Malformation syndrome subtype],"Axenfeld-rieger syndrome, type 2",,"Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 ({180500}).",[601499],[782],[Axenfeld-Rieger syndrome],[5701],,Axenfeld-Rieger syndrome type 2,TRUE,FALSE,Retired +GARD:10518,Active,Orphanet,ORPHA:2752,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 3,"[OFD3, Oral-facial-digital syndrome type 3, Sugarman syndrome]","Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.",[258850],,,,,Orofaciodigital syndrome 3,TRUE,FALSE,Active +GARD:1052,Active,Orphanet,ORPHA:1375,Disorder,[Malformation syndrome],Cataract-hypertrichosis-intellectual disability syndrome,[CAHMR syndrome],"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.",[211770],,,,,CAHMR syndrome,TRUE,FALSE,Retired +GARD:10520,Active,Orphanet,ORPHA:141007,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 9,"[OFD9, Oral-facial-digital syndrome type 9, Oral-facial-digital syndrome with retinal abnormalities, Orofaciodigital syndrome with retinal abnormalities]","Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).",[258865],,,,,Orofaciodigital syndrome 9,TRUE,FALSE,Active +GARD:10521,Legacy,GARD,,,,,,,,,,,,Familial eosinophilia,TRUE,FALSE,Active +GARD:10522,Active,Orphanet,ORPHA:330054,Disorder,[Disease],Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,[Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome],"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.",[613076],,,,,"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay",TRUE,FALSE,Active +GARD:10523,Active,Orphanet,ORPHA:317430,Subtype of disorder,[Clinical subtype],Combined immunodeficiency due to STIM1 deficiency,[CID due to STIM1 deficiency],"Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.",[612783],,,,,Immune dysfunction with T-cell inactivation due to calcium entry defect 2,TRUE,FALSE,Active +GARD:10524,Active,Orphanet,ORPHA:317428,Subtype of disorder,[Clinical subtype],Combined immunodeficiency due to ORAI1 deficiency,[CID due to ORAI1 deficiency],"Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.",[612782],,,,,Immune dysfunction with T-cell inactivation due to calcium entry defect 1,TRUE,FALSE,Active +GARD:10525,Active,Orphanet,ORPHA:261183,Disorder,[Malformation syndrome],15q11.2 microdeletion syndrome,"[15q11.2 BP1-BP2 microdeletion syndrome, Del(15)(q11.2), Monosomy 15q11.2]","15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).",[615656],,,,,15q11.2 microdeletion,TRUE,FALSE,Active +GARD:10526,Active,Orphanet,ORPHA:69083,Disorder,[Malformation syndrome],"Ectodermal dysplasia with natal teeth, Turnpenny type",,"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.",[601345],,,,,Ectodermal dysplasia with natal teeth Turnpenny type,TRUE,FALSE,Active +GARD:10527,Legacy,GARD,,,,,,,,,,,,Levy-Yeboa syndrome,TRUE,FALSE,Retired +GARD:10528,Active,Orphanet,ORPHA:2025,Disorder,[Malformation syndrome],Gingival fibromatosis-facial dysmorphism syndrome,,A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.,[228560],,,,,Gingival fibromatosis with distinctive facies,TRUE,FALSE,Active +GARD:10529,Active,Orphanet,ORPHA:593,Group of disorders,[Category],Myofibrillar myopathy,,"Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.",,,,,,Myofibrillar myopathy,TRUE,FALSE,Active +GARD:1053,Active,Orphanet,ORPHA:220402,Subtype of disorder,[Clinical subtype],Limited cutaneous systemic sclerosis,[Limited cutaneous systemic scleroderma],"Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.",[181750],,,,,Limited cutaneous systemic sclerosis,TRUE,FALSE,Active +GARD:10531,Legacy,GARD,,,,,,,,,,,,Vernal keratitis,TRUE,FALSE,Active +GARD:10533,Active,Orphanet,ORPHA:53351,Disorder,[Disease],X-linked dystonia-parkinsonism,"[DYT3, Lubag, Lubag syndrome, XDP]","X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.",[314250],,,,,X-linked dystonia-parkinsonism/Lubag,TRUE,FALSE,Active +GARD:10534,Legacy,GARD,,,,,,,,,,,,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke",TRUE,FALSE,Retired +GARD:10535,Legacy,GARD,,,,,,,,,,,,Hereditary vascular retinopathy,TRUE,FALSE,Active +GARD:10536,Active,Orphanet,ORPHA:370103,Disorder,[Disease],"Primary dystonia, DYT17 type",,"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.",[612406],,,,,Dystonia 17,TRUE,FALSE,Retired +GARD:10537,Active,Orphanet,ORPHA:98807,Disorder,[Disease],"Primary dystonia, DYT13 type","[DYT13, Primary dystonia with mixed phenotype, Primary torsion dystonia with predominant craniocervical or upper limb onset]","A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.",[607671],,,,,Dystonia 13,TRUE,FALSE,Retired +GARD:10538,Active,Orphanet,ORPHA:171629,Disorder,[Disease],Autosomal recessive spastic paraplegia type 35,[SPG35],"Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.",[612319],,,,,"Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia",TRUE,FALSE,Active +GARD:10539,Active,Orphanet,ORPHA:210571,Disorder,[Disease],Dystonia 16,"[DYT16, Early-onset dystonia parkinsonism]","Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.",[612067],,,,,DYT-PRKRA,TRUE,FALSE,Active +GARD:10540,Legacy,GARD,,,,,,,,,,,,Dystonia 19,TRUE,FALSE,Retired +GARD:10541,Active,Orphanet,ORPHA:98811,Disorder,[Disease],Paroxysmal exertion-induced dyskinesia,"[DYT18, Dystonia 18, PED]","Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.",[612126],,,,,Paroxysmal exertion-induced dyskinesia,TRUE,FALSE,Active +GARD:10542,Legacy,GARD,,,,,,,,,,,,Lipedema,FALSE,FALSE,Active +GARD:10543,Legacy,GARD,,,,,,,,,,,,Duodenal carcinoid syndrome,TRUE,FALSE,Active +GARD:10544,Active,Orphanet+OMIM,OMIM:601650,Subtype of disorder,[Disease subtype],Paragangliomas 2,"[Glomus tumors, familial, 2]",,[601650],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 2,TRUE,FALSE,Active +GARD:10545,Active,Orphanet+OMIM,OMIM:605373,Subtype of disorder,[Disease subtype],Paragangliomas 3,"[Glomus tumors, familial, 3]",,[605373],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 3,TRUE,FALSE,Active +GARD:10546,Active,Orphanet+OMIM,OMIM:115310,Subtype of disorder,[Disease subtype],Paragangliomas 4,"[paraganglioma, familial malignant, pheochromocytoma, familial extraadrenal, paragangliomas, hereditary extraadrenal, Carotid body tumors and multiple extraadrenal pheochromocytomas, pheochromocytoma, extraadrenal, and cervical paraganglioma]",,[115310],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 4,TRUE,FALSE,Active +GARD:10547,Legacy,GARD,,,,,,,,,,,,Syringoma,FALSE,FALSE,Active +GARD:10548,Legacy,GARD,,,,,,,,,,,,Mycobacterium Abscessus,TRUE,FALSE,Active +GARD:10549,Legacy,GARD,,,,,,,,,,,,Mycobacterium Malmoense,TRUE,FALSE,Active +GARD:1055,Legacy,GARD,,,,,,,,,,,,Calloso-genital dysplasia,TRUE,FALSE,Active +GARD:10550,Legacy,GARD,,,,,,,,,,,,Mycobacterium Xenopi,TRUE,FALSE,Active +GARD:10551,Legacy,GARD,,,,,,,,,,,,Mycobacterium Kansasii,TRUE,FALSE,Active +GARD:10552,Legacy,GARD,,,,,,,,,,,,Mycobacterium Chelonae,TRUE,FALSE,Active +GARD:10553,Legacy,GARD,,,,,,,,,,,,Mycobacterium Gordonae,TRUE,FALSE,Active +GARD:10555,Legacy,GARD,,,,,,,,,,,,Trabecular myopathy,TRUE,FALSE,Retired +GARD:10556,Active,Orphanet,ORPHA:86870,Disorder,[Disease],CD4+/CD56+ hematodermic neoplasm,"[BPDCN, Blastic NK-cell lymphoma, Blastic plasmacytoid dendritic cell neoplasm, Lymphoblastoid variant of NK-cell lymphoma, Monomorphic NK-cell lymphoma]","A rare hematologic neoplasm characterized by origin from precursors of plasmacytoid dendritic cells, with frequent cutaneous, bone marrow, and lymph node involvement, as well as leukemic dissemination. Most common clinical presentation is with asymptomatic solitary or multiple skin lesions (either isolated purplish nodules, isolated bruise-like papules, or disseminated purplish nodules/macules/papules), although some patients may present with leukemia. Skin biopsy shows a diffuse, monomorphous infiltrate of medium-sized blast cells resembling either lymphoblasts or myeloblasts, with massive involvement of the dermis. The clinical course is aggressive, and age has an adverse impact on prognosis.",,,,,,Blastic plasmacytoid dendritic cell,TRUE,FALSE,Active +GARD:10557,Active,Orphanet,ORPHA:1727,Disorder,[Malformation syndrome],22q11.2 duplication syndrome,"[22q11.2 microduplication syndrome, Dup(22)(q11), Duplication 22q11.2, Trisomy 22q11.2]","A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.",[608363],,,,,22q11.2 duplication syndrome,TRUE,FALSE,Active +GARD:10558,Legacy,GARD,,,,,,,,,,,,Myoepithelial carcinoma,TRUE,FALSE,Active +GARD:10559,Active,Orphanet,ORPHA:264665,Group of disorders,[Category],Primary interstitial lung disease specific to childhood,[Primary ILD specific to childhood],,,,,,,Children's interstitial lung disease,TRUE,FALSE,Active +GARD:10560,Active,Orphanet,ORPHA:85445,Disorder,[Disease],AA amyloidosis,"[Inflammatory amyloidosis, Reactive amyloidosis, Secondary amyloidosis]","A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.",,,,,,Amyloidosis AA,TRUE,FALSE,Active +GARD:10562,Active,Orphanet,ORPHA:137810,Disorder,[Disease],Nodular cutaneous amyloidosis,"[PLCNA, Primary localized cutaneous nodular amyloidosis]","Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms).",,,,,,Primary localized cutaneous nodular amyloidosis,TRUE,FALSE,Active +GARD:10563,Legacy,GARD,,,,,,,,,,,,Amyloidosis Beta2M,TRUE,FALSE,Active +GARD:10564,Legacy,GARD,,,,,,,,,,,,Adenocarcinoma of the appendix,TRUE,FALSE,Active +GARD:10565,Legacy,GARD,,,,,,,,,,,,Pseudo Pelger-Huet anomaly,TRUE,FALSE,Active +GARD:10566,Legacy,GARD,,,,,,,,,,,,Reese retinal dysplasia,TRUE,FALSE,Active +GARD:10568,Legacy,GARD,,,,,,,,,,,,Dauwerse-Peters syndrome,TRUE,FALSE,Active +GARD:10569,Legacy,GARD,,,,,,,,,,,,Guttate psoriasis,TRUE,FALSE,Active +GARD:1057,Active,Orphanet,ORPHA:267,Disorder,[Disease],Calpain-3-related limb-girdle muscular dystrophy R1,"[Autosomal recessive limb-girdle muscular dystrophy type 2A, Calpain-3-related LGMD R1, LGMD type 2A, LGMD2A, Limb-girdle muscular dystrophy due to calpain deficiency, Limb-girdle muscular dystrophy type 2A, Primary calpainopathy]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.","[253600, 618129]",,,,,Limb-girdle muscular dystrophy type 2A,TRUE,FALSE,Active +GARD:10570,Active,Orphanet+OMIM,OMIM:263650,Subtype of disorder,[Malformation syndrome subtype],Bartsocas-papas syndrome 1,"[pterygium, popliteal, lethal type, multiple pterygium syndrome, aslan type, Popliteal pterygium syndrome, bartsocas-papas type 1, popliteal pterygium syndrome, lethal type]","Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by {12:Mitchell et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Bartsocas-Papas Syndrome\n\nBartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene ({600664}).\n\nA less severe form of popliteal pterygium syndrome (PPS; {119500}) is caused by mutation in the IRF6 gene ({607199}).",[263650],[1234],[Bartsocas-Papas syndrome],[4436],,Multiple pterygium syndrome Aslan type,TRUE,FALSE,Retired +GARD:10571,Legacy,GARD,,,,,,,,,,,,Spondylospinal thoracic dysostosis,TRUE,FALSE,Active +GARD:10572,Active,Orphanet,ORPHA:85278,Disorder,[Malformation syndrome],Christianson syndrome,[X-linked Angelman-like syndrome],"A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.",[300243],,,,,Christianson syndrome,TRUE,FALSE,Active +GARD:10573,Active,Orphanet,ORPHA:488434,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 3",,"Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.",[611929],,,,,Camptodactyly syndrome Guadalajara type 3,TRUE,FALSE,Active +GARD:10574,Active,Orphanet,ORPHA:178333,Disorder,[Disease],Åland Islands eye disease,"[AIED, Forsius-Eriksson syndrome, Forsius-Eriksson type ocular albinism]","An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.",[300600],,,,,Aland island eye disease,TRUE,FALSE,Active +GARD:10575,Legacy,GARD,,,,,,,,,,,,PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY,TRUE,FALSE,Active +GARD:10576,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia with elevated serum IgA and renal disease,TRUE,FALSE,Active +GARD:10577,Legacy,GARD,,,,,,,,,,,,ALK+ histiocytosis,TRUE,FALSE,Active +GARD:10578,Active,Orphanet,ORPHA:101089,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 2,"[AID deficiency, Activation-induced cytidine deaminase deficiency, HIGM2]",,[605258],,,,,Immunodeficiency with hyper IgM type 2,TRUE,FALSE,Active +GARD:10579,Active,Orphanet,ORPHA:101090,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 3,"[HIGM3, Hyper-IgM syndrome due to CD40 deficiency]",,[606843],,,,,Immunodeficiency with hyper IgM type 3,TRUE,FALSE,Active +GARD:1058,Active,Orphanet,ORPHA:391327,Disorder,[Disease],X-linked calvarial hyperostosis,,"X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.",[302030],,,,,Calvarial hyperostosis,TRUE,FALSE,Active +GARD:10580,Active,Orphanet,ORPHA:101091,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 4,[HIGM4],,[608184],,,,,Immunodeficiency with hyper IgM type 4,TRUE,FALSE,Active +GARD:10581,Active,Orphanet,ORPHA:101092,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 5,"[HIGM5, Hyper-IgM syndrome due to UNG deficiency, Hyper-IgM syndrome due to uracil N-glycosylase]",,[608106],,,,,Immunodeficiency with hyper IgM type 5,TRUE,FALSE,Active +GARD:10582,Active,Orphanet,ORPHA:217017,Disorder,[Malformation syndrome],Zechi-Ceide syndrome,[Occipital atretic cephalocele-unusual facies-large feet syndrome],"Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.",[612916],,,,,Zechi Ceide syndrome,TRUE,FALSE,Active +GARD:10583,Active,Orphanet,ORPHA:59303,Disorder,[Disease],Neonatal ichthyosis-sclerosing cholangitis syndrome,"[IHSC, Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome, NISCH syndrome]","Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.",[607626],,,,,"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis",TRUE,FALSE,Active +GARD:10584,Active,Orphanet,ORPHA:85170,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Savarirayan type","[Mesomelic dysplasia with absent fibulas and triangular tibias, Triangular tibia-fibular aplasia syndrome]","Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.",[605274],,,,,Mesomelic dysplasia Savarirayan type,TRUE,FALSE,Active +GARD:10585,Active,Orphanet,ORPHA:86829,Disorder,[Disease],Chronic neutrophilic leukemia,,"A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.",,,,,,Chronic neutrophilic leukemia,TRUE,FALSE,Active +GARD:10586,Active,Orphanet+OMIM,OMIM:610168,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Loeys-dietz syndrome 2,"[Aortic aneurysm, familial thoracic 3, marfan syndrome, type ii, formerly]",,[610168],"[91387, 60030]","[Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection]","[10788, 2249]",,Loeys-Dietz syndrome type 2,TRUE,FALSE,Active +GARD:10587,Active,Orphanet,ORPHA:99027,Disorder,[Disease],Adult-onset autosomal dominant leukodystrophy,"[ADLD, Adult-onset autosomal dominant demyelinating leukodystrophy]","A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.",[169500],,,,,Autosomal dominant leukodystrophy with autonomic disease,TRUE,FALSE,Active +GARD:10588,Active,Orphanet+OMIM,OMIM:614816,Subtype of disorder,[Disease subtype],Loeys-dietz syndrome 4,"[Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations]",,[614816],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,Loeys-Dietz syndrome type 4,TRUE,FALSE,Active +GARD:10589,Legacy,GARD,,,,,,,,,,,,Loeys-Dietz syndrome type 2B,TRUE,FALSE,Retired +GARD:10590,Active,Orphanet,ORPHA:157801,Disorder,[Morphological anomaly],Mesoaxial synostotic syndactyly with phalangeal reduction,"[MSSD, Syndactyly type 9, Syndactyly, Malik-Percin type]","A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.",[609432],,,,,Syndactyly type 9,TRUE,FALSE,Active +GARD:10591,Active,Orphanet,ORPHA:250994,Disorder,[Malformation syndrome],1q21.1 microduplication syndrome,"[Dup(1)(q21.1), Trisomy 1q21.1]","1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.",[612475],,,,,Chromosome 1q21.1 duplication syndrome,TRUE,FALSE,Active +GARD:10592,Active,Orphanet,ORPHA:217346,Disorder,[Malformation syndrome],19q13.11 microdeletion syndrome,"[Del(19)(q13.11), Monosomy 19q13.11]","The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.",[613026],,,,,Chromosome 19q13.11 deletion syndrome,TRUE,FALSE,Active +GARD:10593,Active,Orphanet,ORPHA:217371,Disorder,[Disease],Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,[Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins],"A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.",[613070],,,,,Transient infantile liver failure,TRUE,FALSE,Active +GARD:10594,Active,Orphanet,ORPHA:217382,Disorder,[Disease],Neurodegenerative syndrome due to cerebral folate transport deficiency,,,[613068],,,,,Cerebral folate deficiency,TRUE,FALSE,Active +GARD:10595,Active,Orphanet,ORPHA:217266,Disorder,[Malformation syndrome],BNAR syndrome,[Bifid nose with or without anorectal and renal anomalies],"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).",[608980],,,,,Bifid nose with or without anorectal and renal anomalies,TRUE,FALSE,Active +GARD:10596,Legacy,GARD,,,,,,,,,,,,"Androgen insensitivity syndrome, mild",TRUE,FALSE,Active +GARD:10597,Active,Orphanet,ORPHA:99429,Disorder,[Disease],Complete androgen insensitivity syndrome,"[CAIS, Complete androgen resistance syndrome]","Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.",[300068],,,,,Complete androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:10598,Legacy,GARD,,,,,,,,,,,,Carotid body tumor,TRUE,FALSE,Active +GARD:10599,Legacy,GARD,,,,,,,,,,,,Glomus jugulare tumors,TRUE,FALSE,Active +GARD:106,Active,Orphanet,ORPHA:1647,Disorder,[Malformation syndrome],Oculocerebrocutaneous syndrome,"[Delleman syndrome, Delleman-Oorthuys syndrome, Leichtman-Wood-Rohn syndrome, OCCS, Orbital cyst with cerebral and focal dermal malformations]","A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.",[164180],,,,,Oculocerebrocutaneous syndrome,TRUE,FALSE,Active +GARD:1060,Legacy,GARD,,,,,,,,,,,,Cataract-microcephaly-failure to thrive-kyphoscoliosis,TRUE,FALSE,Retired +GARD:10601,Draft,GARD,,Subtype of disorder,[Disease],"Pituitary hormone deficiency, combined 1",,"Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992).Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037).",[613038],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,"Pituitary hormone deficiency, combined 1",TRUE,FALSE,Active +GARD:10602,Active,Orphanet,ORPHA:95494,Disorder,[Disease],"Combined pituitary hormone deficiencies, genetic forms","[Familial congenital hypopituitarism, Multiple pituitary hormone deficiencies, genetic forms]","Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.","[182230, 613986, 262600]",,,,,"Combined pituitary hormone deficiencies, genetic forms",TRUE,FALSE,Active +GARD:10603,Active,Orphanet,ORPHA:231720,Disorder,[Malformation syndrome],Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,[Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome],"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.",[221750],,,,,"Pituitary hormone deficiency, combined 3",TRUE,FALSE,Active +GARD:10604,Active,Orphanet,ORPHA:85442,Disorder,[Disease],Short stature-pituitary and cerebellar defects-small sella turcica syndrome,,"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).",[262700],,,,,"Pituitary hormone deficiency, combined 4",TRUE,FALSE,Active +GARD:10605,Active,Orphanet,ORPHA:63446,Disorder,[Malformation syndrome],Acrocapitofemoral dysplasia,,"A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.",[607778],,,,,Acrocapitofemoral dysplasia,TRUE,FALSE,Active +GARD:10606,Legacy,GARD,,,,,,,,,,,,"Dwarfism, proportionate with hip dislocation",TRUE,FALSE,Active +GARD:10607,Legacy,GARD,,,,,,,,,,,,Pituitary dwarfism with large sella turcica,TRUE,FALSE,Active +GARD:10608,Active,Orphanet,ORPHA:56305,Disorder,[Malformation syndrome],Atelosteogenesis type III,"[AO3, AOIII, Atelosteogenesis type 3]",A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.,[108721],,,,,Atelosteogenesis type 3,TRUE,FALSE,Active +GARD:10609,Active,Orphanet,ORPHA:73273,Disorder,[Disease],Growth delay due to insulin-like growth factor I resistance,[Resistance to IGF-1],"Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).",[270450],,,,,Insulin-like growth factor 1 resistance to,TRUE,FALSE,Active +GARD:1061,Active,Orphanet,ORPHA:1318,Disorder,[Malformation syndrome],"Campomelia, Cumming type",,"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.",[211890],,,,,Campomelia Cumming type,TRUE,FALSE,Active +GARD:10610,Legacy,GARD,,,,,,,,,,,,Dwarfism familial with muscle spasms,TRUE,FALSE,Active +GARD:10611,Active,Orphanet,ORPHA:156728,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, matrilin-3 type","[SEMD, MATN3-related, SEMD, matrilin-3 type]","A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.",[608728],,,,,Spondyloepimetaphyseal dysplasia Matrilin-3 related,TRUE,FALSE,Active +GARD:10612,Active,Orphanet,ORPHA:1803,Disorder,[Disease],Thoracomelic dysplasia,"[Rivera-Perez-Salas syndrome, Thoracolimb dysplasia, Rivera type]","Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.",[273740],,,,,Thoracomelic dysplasia,TRUE,FALSE,Retired +GARD:10613,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia calcificans metaphysealis,TRUE,FALSE,Active +GARD:10614,Active,Orphanet,ORPHA:139399,Subtype of disorder,[Clinical subtype],Adrenomyeloneuropathy,,"A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.",[300100],,,,,Adrenomyeloneuropathy,TRUE,FALSE,Active +GARD:10615,Active,Orphanet+OMIM,OMIM:610655,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of hereditary hemorrhagic telangiectasia (HHT), see HHT1 ({187300}).",[610655],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 4,TRUE,FALSE,Active +GARD:10616,Active,Orphanet,ORPHA:93358,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,,"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.",[271665],,,,,Spondylometaepiphyseal dysplasia short limb-hand type,TRUE,FALSE,Active +GARD:10617,Active,Orphanet,ORPHA:519384,Disorder,[Morphological anomaly],Congenital cystic eye,[Congenital anophthalmos with cyst],"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.",,,,,,Congenital cystic eye,TRUE,FALSE,Active +GARD:10618,Active,Orphanet,ORPHA:93356,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Missouri type","[SEMD type 2, SEMD, Missouri type, Spondyloepimetaphyseal dysplasia type 2]","Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.",[602111],,,,,Spondyloepimetaphyseal dysplasia Missouri type,TRUE,FALSE,Active +GARD:10619,Active,Orphanet+OMIM,OMIM:259440,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type ix","[Oi, type ix]","Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by {6:van Dijk et al., 2009}).",[259440],"[216820, 216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[10142, 8695, 8696]",,Osteogenesis imperfecta type IX,TRUE,FALSE,Active +GARD:1062,Active,Orphanet,ORPHA:1319,Disorder,[Malformation syndrome],Camptobrachydactyly,,"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.",[114150],,,,,Camptobrachydactyly,TRUE,FALSE,Active +GARD:10620,Active,Orphanet,ORPHA:178355,Disorder,[Disease],Smith-McCort dysplasia,,"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","[607326, 615222]",,,,,Smith McCort dysplasia,TRUE,FALSE,Active +GARD:10621,Legacy,GARD,,,,,,,,,,,,Genochondromatosis,TRUE,FALSE,Active +GARD:10622,Legacy,GARD,,,,,,,,,,,,Metaphyseal dysplasia without hypotrichosis,TRUE,FALSE,Active +GARD:10623,Active,Orphanet+OMIM,OMIM:216330,Subtype of disorder,[Malformation syndrome subtype],"Cleidocranial dysplasia, recessive form",,{1:Goodman et al. (1975)} described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed.,[216330],[1452],[Cleidocranial dysplasia],[6118],,Cleidocranial dysplasia recessive form,TRUE,FALSE,Active +GARD:10624,Active,Orphanet,ORPHA:93284,Disorder,[Disease],Spondyloepiphyseal dysplasia tarda,,"Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.","[184100, 271600, 313400]",,,,,Autosomal dominant spondyloepiphyseal dysplasia tarda,TRUE,FALSE,Active +GARD:10625,Active,Orphanet+OMIM,OMIM:613789,Subtype of disorder,[Disease subtype],"Complement component 8 deficiency, type ii","[c8 beta deficiency, C8 deficiency, type ii, complement component 8b deficiency, c8b deficiency]","Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({6:Ross and Densen, 1984}).\n\nTwo types of inherited C8 deficiency have been reported in humans: type I ({613790}), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G; {120930}) are deficient, and type II, in which only C8 beta is deficient ({2:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({6:Ross and Densen, 1984}).",[613789],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 8 deficiency type 2,TRUE,FALSE,Active +GARD:10626,Active,Orphanet+OMIM,OMIM:613790,Subtype of disorder,[Disease subtype],"Complement component 8 deficiency, type i","[C8 deficiency, type i, c8ag deficiency, c8 alpha-gamma deficiency]","Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({8:Ross and Densen, 1984}).\n\nTwo kinds of inherited C8 deficiency have been reported in humans: type I, in which only C8 alpha and C8 gamma are deficient, and type II ({613789}), in which only C8 beta (C8B; {120960}) is deficient ({4:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({8:Ross and Densen, 1984}).",[613790],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 8 deficiency type 1,TRUE,FALSE,Active +GARD:10627,Active,Orphanet,ORPHA:73272,Disorder,[Disease],Growth delay due to insulin-like growth factor type 1 deficiency,"[Growth delay-deafness-intellectual disability syndrome, Growth delay-hearing loss-intellectual disability syndrome, IGF-1 deficiency, Primary insulin-like growth factor deficiency]",Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.,[608747],,,,,Insulin-like growth factor I deficiency,TRUE,FALSE,Active +GARD:10628,Legacy,GARD,,,,,,,,,,,,XFE progeroid syndrome,TRUE,FALSE,Active +GARD:10629,Active,Orphanet,ORPHA:163654,Disorder,[Disease],Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,"[SED-BDS, Tattoo dysplasia]","Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).",[611717],,,,,Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech,TRUE,FALSE,Active +GARD:1063,Active,Orphanet,ORPHA:1320,Disorder,[Morphological anomaly],Idiopathic camptocormia,"[Idiopathic camptocormism, Idiopathic progressive lumbar kyphosis]","Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.",,,,,,Camptocormism,TRUE,FALSE,Active +GARD:10630,Active,Orphanet,ORPHA:92050,Disorder,[Disease],Congenital tufting enteropathy,"[IED, Intestinal epithelial dysplasia, Non-syndromic congenital tufting enteropathy]",Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.,[613217],,,,,Tufting enteropathy,TRUE,FALSE,Active +GARD:10631,Active,Orphanet,ORPHA:251607,Disorder,[Disease],Pleomorphic xanthoastrocytoma,[PXA],"A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors.",,,,,,Pleomorphic xanthoastrocytoma,TRUE,FALSE,Active +GARD:10632,Active,Orphanet,ORPHA:251618,Disorder,[Disease],Subependymal giant cell astrocytoma,[SEGA],"A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.",,,,,,Subependymal giant cell astrocytoma,TRUE,FALSE,Active +GARD:10633,Active,Orphanet,ORPHA:251643,Disorder,[Disease],Myxopapillary ependymoma,,"Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.",,,,,,Myxopapillary ependymoma,TRUE,FALSE,Active +GARD:10634,Active,Orphanet,ORPHA:251646,Disorder,[Disease],Anaplastic ependymoma,,"A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.",,,,,,Anaplastic ependymoma,TRUE,FALSE,Active +GARD:10635,Active,Orphanet,ORPHA:251679,Disorder,[Disease],Astroblastoma,,"A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.",,,,,,Astroblastoma,TRUE,FALSE,Active +GARD:10636,Legacy,GARD,,,,,,,,,,,,Chordoid glioma of the third ventricle,TRUE,FALSE,Active +GARD:10637,Active,Orphanet,ORPHA:251663,Disorder,[Disease],Anaplastic oligoastrocytoma,[aMOA],"A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.",,,,,,Anaplastic oligoastrocytoma,TRUE,FALSE,Active +GARD:10638,Active,Orphanet,ORPHA:251937,Disorder,[Disease],Gangliocytoma,,"Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.",,,,,,Gangliocytoma,TRUE,FALSE,Active +GARD:10639,Active,Orphanet,ORPHA:251957,Disorder,[Disease],Anaplastic ganglioglioma,,"A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.",,,,,,Anaplastic ganglioglioma,TRUE,FALSE,Active +GARD:1064,Active,Orphanet,ORPHA:1321,Disorder,[Malformation syndrome],Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,[Goodman camptodactyly],"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.",[211930],,,,,"Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia",TRUE,FALSE,Active +GARD:10640,Active,Orphanet,ORPHA:251946,Disorder,[Disease],Dysembryoplastic neuroepithelial tumor,[DNET],"A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.",,,,,,Dysembryoplastic neuroepithelial tumor,TRUE,FALSE,Active +GARD:10641,Active,Orphanet,ORPHA:73256,Disorder,[Disease],Central neurocytoma,,"Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.",,,,,,Central neurocytoma,TRUE,FALSE,Active +GARD:10642,Active,Orphanet,ORPHA:251931,Disorder,[Disease],Cerebellar liponeurocytoma,,"Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.",,,,,,Cerebellar liponeurocytoma,TRUE,FALSE,Active +GARD:10643,Active,Orphanet,ORPHA:97286,Disorder,[Disease],Carney-Stratakis syndrome,"[Carney dyad, Carney-Stratakis dyad, GIST-paraganglioma dyad, Paraganglioma and gastric stromal sarcoma]","Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.",[606864],,,,,Paraganglioma and gastric stromal sarcoma,TRUE,FALSE,Active +GARD:10644,Active,Orphanet,ORPHA:251919,Disorder,[Disease],Pineal parenchymal tumor of intermediate differenciation,,"A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.",,,,,,Pineal parenchymal tumors of intermediate differentiation,TRUE,FALSE,Active +GARD:10645,Active,Orphanet,ORPHA:93623,Subtype of disorder,[Clinical subtype],Dent disease type 2,,"A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.",[300555],,,,,Dent disease 2,TRUE,FALSE,Retired +GARD:10646,Legacy,GARD,,,,,,,,,,,,Teratoma with malignant transformation,TRUE,FALSE,Active +GARD:10647,Active,Orphanet,ORPHA:85167,Disorder,[Disease],Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,[SMD-CRD],"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.",[608940],,,,,Spondylometaphyseal dysplasia with cone-rod dystrophy,TRUE,FALSE,Active +GARD:10648,Active,Orphanet+OMIM,OMIM:610024,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 3a,"[Cone dystrophy with night blindness and supernormal rod responses, pde6h-related]",,[610024],[49382],[Achromatopsia],[15015],,Retinal cone dystrophy 3A,TRUE,FALSE,Active +GARD:10649,Active,Orphanet,ORPHA:209932,Disorder,[Disease],Cone dystrophy with supernormal rod response,"[Cone dystrophy with supernormal rod ERG, Cone dystrophy with supernormal rod electroretinogram, Cone dystrophy with supernormal scotopic electroretinogram]","Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.",[610356],,,,,Retinal cone dystrophy 3B,TRUE,FALSE,Active +GARD:1065,Legacy,GARD,,,,,,,,,,,,Camptodactyly joint contractures and facial skeletal dysplasia,TRUE,FALSE,Retired +GARD:10650,Active,Orphanet+OMIM,OMIM:610478,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 4,,,[610478],[1872],[Cone rod dystrophy],[10790],,Retinal cone dystrophy 4,TRUE,FALSE,Active +GARD:10651,Active,Orphanet+OMIM,OMIM:600624,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 1,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}.",[600624],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 1,TRUE,FALSE,Active +GARD:10652,Active,Orphanet+OMIM,OMIM:304020,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 1",,"X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors ({5:Demirci et al., 2002}). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings ({10:Hong et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of X-linked Cone-Rod Dystrophy\n\nAdditional forms of X-linked cone-rod dystrophy include CORDX2 ({300085}), mapped to chromosome Xq27, and CORDX3 ({300476}), caused by mutation in the CACNA1F gene ({300110}) on chromosome Xp11.23.\n\nFor a discussion of autosomal forms of cone-rod dystrophy, see CORD2 ({120970}).",[304020],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy X-linked 1,TRUE,FALSE,Active +GARD:10653,Active,Orphanet+OMIM,OMIM:604116,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 3,,"Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by {6:Klevering et al., 2002} and {3:Ducroq et al., 2002}). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced ({5:Fishman et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[604116],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 3,TRUE,FALSE,Active +GARD:10654,Active,Orphanet+OMIM,OMIM:300476,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 3",,"Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by {3:Huang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.",[300476],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy X-linked 3,TRUE,FALSE,Active +GARD:10655,Active,Orphanet+OMIM,OMIM:600977,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 5,,"Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life ({3:Kohn et al., 2007}; {4:Reinis et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[600977],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 5,TRUE,FALSE,Active +GARD:10656,Active,Orphanet+OMIM,OMIM:601777,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 6,[Retinal cone dystrophy 2],,[601777],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 6,TRUE,FALSE,Active +GARD:10657,Active,Orphanet+OMIM,OMIM:125851,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 2","[mody, glucokinase-related, Mody, type 2]","MODY is a form of NIDDM ({125853}) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.\n\nIn a review of the various forms of MODY, {2:Fajans et al. (2001)} stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by {4:Froguel et al. (1991)}. {5:Gidh-Jain et al. (1993)} found that GCK mutations accounted for 56% of MODY families in France.",[125851],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 2",TRUE,FALSE,Active +GARD:10658,Active,Orphanet+OMIM,OMIM:600496,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 3","[Mody, type 3]","MODY is a form of familial noninsulin-dependent diabetes mellitus (T2D; {125853}) and is characterized by an early age of onset (childhood, adolescence, or young adulthood under 25 years) and autosomal dominant inheritance.\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}.",[600496],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 3",TRUE,FALSE,Active +GARD:10659,Active,Orphanet+OMIM,OMIM:606392,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 4","[Mody, type 4]",,[606392],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 4",TRUE,FALSE,Active +GARD:10660,Active,Orphanet+OMIM,OMIM:606394,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 6","[Mody, type 6]",,[606394],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 6",TRUE,FALSE,Active +GARD:10661,Active,Orphanet+OMIM,OMIM:610508,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 7",,,[610508],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 7",TRUE,FALSE,Active +GARD:10662,Active,Orphanet+OMIM,OMIM:609812,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 8, with exocrine dysfunction","[Diabetes and pancreatic exocrine dysfunction, diabetes-pancreatic exocrine dysfunction syndrome]","Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by {3:Johansson et al., 2018}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}.",[609812],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 8",TRUE,FALSE,Active +GARD:10663,Active,Orphanet+OMIM,OMIM:612225,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 9",,,[612225],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 9",TRUE,FALSE,Active +GARD:10664,Active,Orphanet,ORPHA:443084,Disorder,[Clinical syndrome],Baroreflex failure,,"A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.",,,,,,Baroreflex failure,TRUE,FALSE,Active +GARD:10665,Legacy,GARD,,,,,,,,,,,,Familial bilateral striatal necrosis,TRUE,FALSE,Active +GARD:10666,Legacy,GARD,,,,,,,,,,,,Dihydroxyadeninuria,TRUE,FALSE,Active +GARD:10667,Active,Orphanet,ORPHA:329466,Disorder,[Disease],"Autosomal dominant focal dystonia, DYT25 type","[DYT25, Dystonia 25]","A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.",[615073],,,,,DYT-GNAL,TRUE,FALSE,Active +GARD:10668,Legacy,GARD,,,,,,,,,,,,Cervical dystonia,TRUE,FALSE,Active +GARD:10669,Legacy,GARD,,,,,,,,,,,,Double inferior vena cava,FALSE,FALSE,Active +GARD:1067,Active,Orphanet,ORPHA:1327,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 1",,"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.",[211910],,,,,Camptodactyly syndrome Guadalajara type 1,TRUE,FALSE,Active +GARD:10670,Active,Orphanet,ORPHA:309279,Group of disorders,[Category],Glycoproteinosis,,,,,,,,Glycoproteinosis,TRUE,FALSE,Active +GARD:10671,Legacy,GARD,,,,,,,,,,,,Mucoepidermoid carcinoma,TRUE,FALSE,Active +GARD:10672,Legacy,GARD,,,,,,,,,,,,ALS-like syndrome of encephalomyopathy,TRUE,FALSE,Retired +GARD:10673,Legacy,GARD,,,,,,,,,,,,Cardioencephalomyopathy,TRUE,FALSE,Active +GARD:10674,Legacy,GARD,,,,,,,,,,,,Metachromatic leukodystrophy due to saposin B deficiency,TRUE,FALSE,Active +GARD:10675,Active,Orphanet,ORPHA:85212,Subtype of disorder,[Clinical subtype],Fetal Gaucher disease,[Perinatal lethal Gaucher disease],Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).,[608013],,,,,Gaucher disease perinatal lethal,TRUE,FALSE,Active +GARD:10676,Legacy,GARD,,,,,,,,,,,,Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema,TRUE,FALSE,Retired +GARD:10679,Active,Orphanet,ORPHA:88950,Subtype of disorder,[Clinical subtype],UMOD-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-UMOD, Familial juvenile hyperuricemic nephropathy type 1, MCKD2, Medullary cystic kidney disease type 2, UMOD-related ADTKD, Uromodulin-associated kidney disease]",,[162000],,,,,Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations,TRUE,FALSE,Active +GARD:1068,Active,Orphanet,ORPHA:1326,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 2",,"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.",[211920],,,,,Camptodactyly syndrome Guadalajara type 2,TRUE,FALSE,Active +GARD:10680,Active,Orphanet,ORPHA:94089,Disorder,[Disease],Pseudohypoparathyroidism type 1B,,"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.",[603233],,,,,Pseudohypoparathyroidism type 1B,TRUE,FALSE,Active +GARD:10681,Active,Orphanet,ORPHA:79444,Disorder,[Disease],Pseudohypoparathyroidism type 1C,,"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).",[612462],,,,,Pseudohypoparathyroidism type 1C,TRUE,FALSE,Active +GARD:10682,Active,Orphanet,ORPHA:94090,Disorder,[Disease],Pseudohypoparathyroidism type 2,,"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.",[203330],,,,,Pseudohypoparathyroidism type 2,TRUE,FALSE,Active +GARD:10683,Legacy,GARD,,,,,,,,,,,,Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features,TRUE,FALSE,Retired +GARD:10684,Active,Orphanet,ORPHA:35689,Disorder,[Disease],Primary lateral sclerosis,"[Adult-onset PLS, Adult-onset primary lateral sclerosis, PLS]","Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.",[611637],,,,,Primary lateral sclerosis,TRUE,FALSE,Active +GARD:10685,Legacy,GARD,,,,,,,,,,,,Chilaiditi syndrome,TRUE,FALSE,Active +GARD:10686,Active,Orphanet,ORPHA:157846,Disorder,[Disease],Neuroferritinopathy,"[Adult basal ganglia disease, Ferritin-related neurodegeneration, Hereditary ferritinopathy]",Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.,[606159],,,,,Neuroferritinopathy,TRUE,FALSE,Active +GARD:10687,Legacy,GARD,,,,,,,,,,,,Mungan syndrome,TRUE,FALSE,Active +GARD:10688,Active,Orphanet+OMIM,OMIM:610217,Subtype of disorder,[Disease subtype],Neurodegeneration with brain iron accumulation 2b,"[neuroaxonal dystrophy, atypical, Neurodegeneration with brain iron accumulation, pla2g6-related]",,[610217],[35069],[Infantile neuroaxonal dystrophy],[3957],,Karak syndrome,TRUE,FALSE,Active +GARD:10689,Legacy,GARD,,,,,,,,,,,,Megarbane Jalkh syndrome,TRUE,FALSE,Active +GARD:1069,Active,Orphanet,ORPHA:1325,Disorder,[Malformation syndrome],Camptodactyly-taurinuria syndrome,[Familial streblodactyly with amino-aciduria],"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.",,,,,,Camptodactyly taurinuria,TRUE,FALSE,Active +GARD:10690,Legacy,GARD,,,,,,,,,,,,Macular telangiectasia type 2,FALSE,FALSE,Active +GARD:10691,Active,Orphanet+OMIM,OMIM:617041,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 3 with or without deafness,,"Duane retraction syndrome is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by {1:Park et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800}).",[617041],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 3,TRUE,FALSE,Retired +GARD:10692,Active,Orphanet,ORPHA:140997,Group of disorders,[Clinical group],Orofaciodigital syndrome,"[OFD, Oral-facial-digital syndrome]",,,,,,,Orofaciodigital syndromes,TRUE,FALSE,Active +GARD:10693,Active,Orphanet,ORPHA:141327,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 12,"[Moran-Barroso syndrome, OFD12, Oral-facial-digital syndrome type 12]","Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.",,,,,,Orofaciodigital syndrome 12,TRUE,FALSE,Active +GARD:10694,Active,Orphanet,ORPHA:141330,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 13,"[Degner syndrome, OFD13, Oral-facial-digital syndrome type 13]","Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.",,,,,,Orofaciodigital syndrome 13,TRUE,FALSE,Active +GARD:10695,Active,Orphanet,ORPHA:99106,Subtype of disorder,[Clinical subtype],"Atrial septal defect, ostium primum type","[ASD, ostium primum type]",,,,,,,Atrial septal defect ostium primum,TRUE,FALSE,Active +GARD:10696,Active,Orphanet,ORPHA:99105,Subtype of disorder,[Clinical subtype],"Atrial septal defect, sinus venosus type","[ASD, sinus venosus type]",,,,,,,Atrial septal defect sinus venosus,TRUE,FALSE,Active +GARD:10697,Active,Orphanet,ORPHA:99104,Subtype of disorder,[Clinical subtype],"Atrial septal defect, coronary sinus type","[ASD, coronary sinus type, Unroofed coronary sinus]",,,,,,,Atrial septal defect coronary sinus,TRUE,FALSE,Active +GARD:10698,Active,Orphanet+OMIM,OMIM:605275,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 2,"[Noonan syndrome, autosomal recessive]","Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by {5:van der Burgt and Brunner, 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[605275],[648],[Noonan syndrome],[10955],,Noonan syndrome 2,TRUE,FALSE,Active +GARD:10699,Active,Orphanet+OMIM,OMIM:610733,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 4,,"Noonan syndrome-4 (NS4) is an autosomal dominant disorder characterized by a variable phenotype comprising short stature, congenital heart defects, and facial dysmorphisms (summary by {1:Ferrero et al., 2008}). Patients often have ectodermal anomalies, such as keratitis pilaris, curly hair, and ocular ptosis ({5:Tartaglia et al., 2007}; {8:Zenker et al., 2007}).",[610733],[648],[Noonan syndrome],[10955],,Noonan syndrome 4,TRUE,FALSE,Active +GARD:107,Legacy,GARD,,,,,,,,,,,,"Pneumonia, eosinophilic",TRUE,FALSE,Retired +GARD:1070,Legacy,GARD,,,,,,,,,,,,Camptodactyly vertebral fusion,TRUE,FALSE,Active +GARD:10700,Active,Orphanet+OMIM,OMIM:611553,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 5,,,[611553],[648],[Noonan syndrome],[10955],,Noonan syndrome 5,TRUE,FALSE,Active +GARD:10701,Active,Orphanet+OMIM,OMIM:613224,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 6,,,[613224],[648],[Noonan syndrome],[10955],,Noonan syndrome 6,TRUE,FALSE,Active +GARD:10702,Legacy,GARD,,,,,,,,,,,,Gestational diabetes insipidus,TRUE,FALSE,Active +GARD:10703,Legacy,GARD,,,,,,,,,,,,Dipsogenic diabetes insipidus,TRUE,FALSE,Active +GARD:10704,Active,Orphanet,ORPHA:2254,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 1,"[Norman disease, PCH1]","A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing","[614678, 618065, 619303, 619304, 616081, 607596]",,,,,Pontocerebellar hypoplasia type 1,TRUE,FALSE,Active +GARD:10705,Active,Orphanet,ORPHA:2524,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 2,[PCH2],"A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.","[617026, 613811, 612389, 612390, 277470]",,,,,Pontocerebellar hypoplasia type 2,TRUE,FALSE,Active +GARD:10706,Active,Orphanet,ORPHA:309854,Disorder,[Disease],Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,,"A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.",[613280],,,,,Hypermanganesemia with dystonia polycythemia and cirrhosis,TRUE,FALSE,Active +GARD:10707,Active,Orphanet,ORPHA:90024,Disorder,[Malformation syndrome],"Deafness with labyrinthine aplasia, microtia, and microdontia","[Hearing loss with labyrinthine aplasia, microtia, and microdontia, LAMM syndrome, Microdontia-type I microtia-deafness syndrome, Microdontia-type I microtia-hearing loss syndrome]","Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.",[610706],,,,,Deafness with labyrinthine aplasia microtia and microdontia (LAMM),TRUE,FALSE,Active +GARD:10708,Active,Orphanet,ORPHA:97249,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 3,"[Cerebellar atrophy with progressive microcephaly, PCH3]","A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.",[608027],,,,,Pontocerebellar hypoplasia type 3,TRUE,FALSE,Active +GARD:10709,Legacy,GARD,,,,,,,,,,,,Pontocerebellar hypoplasia type 5,TRUE,FALSE,Active +GARD:1071,Active,Orphanet+OMIM,OMIM:211990,Subtype of disorder,[Malformation syndrome subtype],"Camptomelic syndrome, long-limb type","[Campomelic syndrome, long-limb type]",,[211990],[140],[Campomelic dysplasia],[10027],,Camptomelic syndrome long limb type,TRUE,FALSE,Active +GARD:10710,Active,Orphanet,ORPHA:166073,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 6,"[Fatal infantile encephalopathy with mitochondrial respiratory chain defects, PCH6]","A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.",[611523],,,,,Pontocerebellar hypoplasia type 6,TRUE,FALSE,Active +GARD:10711,Active,Orphanet,ORPHA:98497,Group of disorders,[Category],Genetic peripheral neuropathy,,,,,,,,Genetic peripheral neuropathy,TRUE,FALSE,Retired +GARD:10712,Legacy,GARD,,,,,,,,,,,,Progressive transformation of germinal centers,TRUE,FALSE,Active +GARD:10713,Active,Orphanet,ORPHA:60039,Disorder,[Disease],Pudendal neuralgia,"[Alcock syndrome, Pudendal algia, Pudendal nerve entrapment syndrome, Pudendal neuralgia by pudendal nerve entrapment, Pudendalgia]","A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated with pelvic dysfunction.",,,,,,Pudendal Neuralgia,TRUE,FALSE,Active +GARD:10714,Active,Orphanet,ORPHA:137605,Disorder,[Malformation syndrome],Legius syndrome,"[NF1-like syndrome, Neurofibromatosis 1-like syndrome]","Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.",[611431],,,,,Legius syndrome,TRUE,FALSE,Active +GARD:10715,Legacy,GARD,,,,,,,,,,,,Diploid-triploid mosaicism,TRUE,FALSE,Active +GARD:10716,Active,Orphanet,ORPHA:391417,Disorder,[Disease],HSD10 disease,"[2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, HSD10 deficiency, MHBD deficiency]","HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.",[300438],,,,,HSD10 disease,TRUE,FALSE,Active +GARD:10717,Legacy,GARD,,,,,,,,,,,,Hydroxyprolinemia,TRUE,FALSE,Active +GARD:10718,Legacy,GARD,,,,,,,,,,,,Heinz body anemias,TRUE,FALSE,Active +GARD:10719,Active,Orphanet,ORPHA:2701,Disorder,[Malformation syndrome],Noonan syndrome-like disorder with loose anagen hair,"[Mazzanti syndrome, NS/LAH]","A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.","[617506, 607721]",,,,,Noonan-like syndrome with loose anagen hair,TRUE,FALSE,Active +GARD:1072,Active,Orphanet,ORPHA:1328,Disorder,[Malformation syndrome],Camurati-Engelmann disease,[Progressive diaphyseal dysplasia],"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.",[131300],,,,,Camurati-Engelmann disease,TRUE,FALSE,Active +GARD:10720,Legacy,GARD,,,,,,,,,,,,Trichuriasis,TRUE,FALSE,Active +GARD:10721,Legacy,GARD,,,,,,,,,,,,Kingella infections,TRUE,FALSE,Active +GARD:10722,Legacy,GARD,,,,,,,,,,,,Monkeypox,TRUE,FALSE,Active +GARD:10723,Legacy,GARD,,,,,,,,,,,,Pineal cyst,FALSE,FALSE,Retired +GARD:10724,Legacy,GARD,,,,,,,,,,,,Bone marrow necrosis,FALSE,FALSE,Active +GARD:10725,Legacy,GARD,,,,,,,,,,,,Odontogenic myxoma,TRUE,FALSE,Active +GARD:10726,Active,Orphanet+OMIM,OMIM:277300,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 1, autosomal recessive","[spondylothoracic dysplasia, Vertebral anomalies, spondylothoracic dysostosis, costovertebral dysplasia, jarcho-levin syndrome]","The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by {18:Gucev et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Spondylocostal Dysostosis\n\nOther forms of SCDO include SCDO2 ({608681}), caused by mutation in the MESP2 gene ({605195}) on chromosome 15q26; SCDO3 ({609813}), caused by mutation in the LFNG gene ({602576}) on chromosome 7p22; SCDO4 ({613686}), caused by mutation in the HES7 gene ({608059}) on chromosome 17p13; SCDO5 ({122600}), caused by mutation in the TBX6 gene ({602427}) on chromosome 16p11; and SCDO6 ({616566}), caused by mutation in the RIPPLY2 gene ({609891}) on chromosome 6q14.",[277300],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 1,TRUE,FALSE,Active +GARD:10727,Active,Orphanet,ORPHA:96169,Disorder,[Malformation syndrome],Koolen-De Vries syndrome,[KdVS],"A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.",[610443],,,,,Koolen de Vries syndrome,TRUE,FALSE,Active +GARD:10728,Active,Orphanet,ORPHA:439854,Disorder,[Disease],Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,"[Fatal congenital hypertrophic cardiomyopathy due to GSD, Fatal congenital hypertrophic cardiomyopathy due to glycogenosis]","A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.",[261740],,,,,Lethal congenital glycogen storage disease of the heart,FALSE,FALSE,Active +GARD:10729,Active,Orphanet,ORPHA:77293,Disorder,[Disease],Chronic visceral acid sphingomyelinase deficiency,"[Chronic visceral ASMD, NPD-B, Niemann-Pick disease type B]","A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.",[607616],,,,,Niemann-Pick disease type B,TRUE,FALSE,Active +GARD:10730,Active,Orphanet,ORPHA:79096,Disorder,[Disease],Pyridoxal phosphate-responsive seizures,"[PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, Pyridoxal phosphate-dependent seizures, Pyridoxamine 5'-oxidase deficiency, Pyridoxamine 5'-phosphate oxidase deficiency]","A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.",[610090],,,,,Pyridoxal 5'-phosphate-dependent epilepsy,TRUE,FALSE,Active +GARD:10731,Active,Orphanet,ORPHA:59306,Disorder,[Disease],McLeod neuroacanthocytosis syndrome,"[MLS, X-linked McLeod syndrome]","McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.",[300842],,,,,McLeod neuroacanthocytosis syndrome,TRUE,FALSE,Active +GARD:10732,Active,Orphanet,ORPHA:542310,Disorder,[Disease],Leukoencephalopathy with calcifications and cysts,"[LCC, Labrune syndrome]","A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.",[614561],,,,,"Leukoencephalopathy, cerebral calcifications, and cysts",TRUE,FALSE,Active +GARD:10733,Legacy,GARD,,,,,,,,,,,,Intravascular papillary endothelial hyperplasia,TRUE,FALSE,Active +GARD:10734,Active,Orphanet,ORPHA:284343,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma familial tumor susceptibility syndrome,"[DICER1 syndrome, PPB familial tumor susceptibility syndrome, PPBFTDS, Pleuro-pulmonary blastoma familial tumor susceptibility syndrome]",,[601200],,,,,DICER1-related pleuropulmonary blastoma cancer predisposition syndrome,TRUE,FALSE,Active +GARD:10737,Legacy,GARD,,,,,,,,,,,,Posner-Schlossman syndrome,TRUE,FALSE,Active +GARD:10738,Active,Orphanet,ORPHA:93600,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 3,,,[613616],,,,,Primary hyperoxaluria type 3,TRUE,FALSE,Active +GARD:10739,Active,Orphanet,ORPHA:216,Group of disorders,[Clinical group],Neuronal ceroid lipofuscinosis,[NCL],"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.",,,,,,Neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:10740,Active,Orphanet,ORPHA:261197,Disorder,[Malformation syndrome],Proximal 16p11.2 microdeletion syndrome,"[Proximal del(16)(p11.2), Proximal monosomy 16p11.2]","The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.",[611913],,,,,16p11.2 deletion syndrome,TRUE,FALSE,Active +GARD:10741,Active,Orphanet,ORPHA:99642,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Handigodu type",,"Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.",[613343],,,,,"Spondyloepimetaphyseal dysplasia, Handigodu type",FALSE,FALSE,Active +GARD:10742,Legacy,GARD,,,,,,,,,,,,Madras motor neuron disease,FALSE,FALSE,Active +GARD:10743,Legacy,GARD,,,,,,,,,,,,Persistent genital arousal disorder,TRUE,FALSE,Active +GARD:10744,Active,Orphanet,ORPHA:617910,Disorder,[Disease],Conjunctival malignant melanoma,[Conjunctival melanoma],,,,,,,Conjunctival melanoma,TRUE,FALSE,Active +GARD:10745,Legacy,GARD,,,,,,,,,,,,Orbital melanoma,TRUE,FALSE,Retired +GARD:10746,Legacy,GARD,,,,,,,,,,,,Hemochromatosis,FALSE,FALSE,Active +GARD:10747,Legacy,GARD,,,,,,,,,,,,Lupus nephritis,TRUE,FALSE,Active +GARD:10748,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia,TRUE,FALSE,Active +GARD:10749,Legacy,GARD,,,,,,,,,,,,Chromhidrosis,TRUE,FALSE,Active +GARD:10750,Legacy,GARD,,,,,,,,,,,,Diffuse cavernous hemangioma of the rectum,TRUE,FALSE,Active +GARD:10751,Legacy,GARD,,,,,,,,,,,,Vitiligo,FALSE,FALSE,Active +GARD:10752,Active,Orphanet,ORPHA:304,Group of disorders,[Clinical group],Epidermolysis bullosa simplex,[EBS],A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.,,,,,,Epidermolysis bullosa simplex,TRUE,FALSE,Active +GARD:10753,Active,Orphanet,ORPHA:2309,Disorder,[Disease],Pachyonychia congenita,[PC],"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.","[167200, 260130, 615728, 615726, 167210]",,,,,Pachyonychia congenita,TRUE,FALSE,Active +GARD:10754,Active,Orphanet,ORPHA:353281,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,,,[610543],,,,,Chromosome 16p13.3 deletion syndrome,TRUE,FALSE,Active +GARD:10755,Active,Orphanet,ORPHA:96078,Disorder,[Malformation syndrome],16p13.3 microduplication syndrome,"[Distal duplication 16p, Distal trisomy 16p, Dup(16)(p13.3), Telomeric duplication 16p, Trisomy 16pter]","16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.",[613458],,,,,Chromosome 16p13.3 duplication,TRUE,FALSE,Active +GARD:10756,Active,Orphanet,ORPHA:251,Group of disorders,[Clinical group],Multiple epiphyseal dysplasia,"[EDM, MED, Polyepiphyseal dysplasia]","A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.",,,,,,Multiple epiphyseal dysplasia,TRUE,FALSE,Active +GARD:10757,Legacy,GARD,,,,,,,,,,,,Exogenous ochronosis,TRUE,FALSE,Active +GARD:10758,Active,Orphanet,ORPHA:97593,Group of disorders,[Category],Pseudohypoparathyroidism,,"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).",,,,,,Pseudohypoparathyroidism,TRUE,FALSE,Active +GARD:10759,Legacy,GARD,,,,,,,,,,,,Hemangioma,FALSE,FALSE,Active +GARD:1076,Legacy,GARD,,,,,,,,,,,,Systemic candidiasis,TRUE,FALSE,Active +GARD:10760,Active,Orphanet,ORPHA:137625,Disorder,[Disease],Glycogen storage disease due to muscle and heart glycogen synthase deficiency,"[GSD due to muscle and heart glycogen synthase deficiency, GSD type 0b, Glycogen storage disease type 0b, Glycogenosis due to muscle and heart glycogen synthase deficiency, Glycogenosis type 0b]","Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.",[611556],,,,,"Glycogen storage disease type 0, muscle",TRUE,FALSE,Active +GARD:10761,Active,Orphanet,ORPHA:19,Group of disorders,[Clinical group],2-hydroxyglutaric aciduria,[2-hydroxyglutaric acidemia],"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.",,,,,,2-Hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:10762,Active,Orphanet,ORPHA:289601,Disorder,[Disease],Hereditary arterial and articular multiple calcification syndrome,"[CALJA, Calcification of joints and arteries]","Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.",[211800],,,,,ACDC,TRUE,FALSE,Active +GARD:10763,Active,Orphanet+OMIM,OMIM:126800,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 1,,"Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision ({2:Appukuttan et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Duane Retraction Syndrome\n\nDuane retraction syndrome-1 (DURS1) maps to chromosome 8q13. DURS2 ({604356}) is caused by mutation in the CHN1 gene ({118423}) on chromosome 2q31. DURS3 ({617041}) is caused by mutation in the MAFB gene ({608968}) on chromosome 20q12.",[126800],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 1,TRUE,FALSE,Retired +GARD:10764,Active,Orphanet,ORPHA:289891,Disorder,[Disease],Hypermethioninemia due to glycine N-methyltransferase deficiency,"[Glycine N-methyltransferase deficiency, Hypermethioninemia due to GNMT deficiency]","Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.",[606664],,,,,Glycine N-methyltransferase deficiency,TRUE,FALSE,Active +GARD:10765,Legacy,GARD,,,,,,,,,,,,Chromosome 9 inversion,FALSE,FALSE,Active +GARD:10766,Active,Orphanet,ORPHA:331,Disorder,[Disease],Congenital factor XIII deficiency,[Fibrin-stabilizing factor deficiency],Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.,"[613235, 613225]",,,,,Factor XIII deficiency,TRUE,FALSE,Active +GARD:10767,Active,Orphanet,ORPHA:79330,Disorder,[Disease],MOGS-CDG,"[CDG syndrome type IIb, CDG-IIb, CDG2B, Carbohydrate deficient glycoprotein syndrome type IIb, Congenital disorder of glycosylation type 2b, Congenital disorder of glycosylation type IIb, Glucosidase 1 deficiency]","MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).",[606056],,,,,MOGS-CDG (CDG-IIb),TRUE,FALSE,Active +GARD:10768,Active,Orphanet,ORPHA:569,Disorder,[Disease],Familial or sporadic hemiplegic migraine,,A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).,"[607516, 609634, 141500, 602481]",,,,,Familiar or sporadic hemiplegic migraine,TRUE,FALSE,Active +GARD:10769,Active,Orphanet,ORPHA:59135,Disorder,[Disease],Laing early-onset distal myopathy,"[Distal myopathy type 1, Gowers disease, MPD1]","Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.",[160500],,,,,Laing distal myopathy,TRUE,FALSE,Active +GARD:1077,Active,Orphanet,ORPHA:1334,Disorder,[Disease],Chronic mucocutaneous candidiasis,[CMC],"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.","[607644, 247650, 252250, 613956, 613953, 613108, 114580, 616445, 615527]",,,,,Autosomal recessive candidiasis familial chronic mucocutaneous,TRUE,FALSE,Active +GARD:10770,Legacy,GARD,,,,,,,,,,,,Homocystinuria,TRUE,FALSE,Active +GARD:10771,Active,Orphanet,ORPHA:478,Subtype of disorder,[Clinical subtype],Kallmann syndrome,"[Congenital hypogonadotropic hypogonadism with anosmia, Olfacto-genital pathological sequence]","Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).","[308700, 614837, 612370, 614838, 610628, 615267, 616030, 614897, 614840, 615269, 618841, 615270, 244200, 614858, 612702, 615271, 147950, 614880, 615266]",,,,,Kallmann syndrome,TRUE,FALSE,Active +GARD:10772,Active,Orphanet+OMIM,OMIM:610628,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 4 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[610628],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 4,TRUE,FALSE,Active +GARD:10773,Active,Orphanet+OMIM,OMIM:612370,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 5 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[612370],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 5,TRUE,FALSE,Active +GARD:10774,Active,Orphanet+OMIM,OMIM:612702,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 6 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[612702],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 6,TRUE,FALSE,Active +GARD:10775,Active,Orphanet,ORPHA:228426,Disorder,[Disease],Syndromic multisystem autoimmune disease due to Itch deficiency,,"Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.",[613385],,,,,ITCH E3 ubiquitin ligase deficiency,TRUE,FALSE,Active +GARD:10776,Legacy,GARD,,,,,,,,,,,,Benign metastasizing leiomyoma,TRUE,FALSE,Active +GARD:10777,Active,Orphanet,ORPHA:168816,Disorder,[Disease],Peritoneal cystic mesothelioma,"[Benign multicystic peritoneal mesothelioma, Multicystic mesothelioma, Multilocular peritoneal inclusion cyst]",Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.,,,,,,Benign multicystic peritoneal mesothelioma,TRUE,FALSE,Active +GARD:10778,Active,Orphanet,ORPHA:169142,Disorder,[Disease],Recurrent infection due to specific granule deficiency,[Neutrophil-specific granule deficiency],"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","[245480, 617475]",,,,,Neutrophil-specific granule deficiency,TRUE,FALSE,Active +GARD:10779,Active,Orphanet,ORPHA:284448,Disorder,[Disease],CLIPPERS,[Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids],"CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.",,,,,,Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids,TRUE,FALSE,Active +GARD:1078,Active,Orphanet,ORPHA:2233,Disorder,[Disease],Hypogonadism-mitral valve prolapse-intellectual disability syndrome,[Cantalamessa-Baldini-Ambrosi syndrome],"This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.",,,,,,Cantalamessa Baldini Ambrosi syndrome,TRUE,FALSE,Active +GARD:10780,Active,Orphanet,ORPHA:617916,Disorder,[Disease],Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,,,,,,,,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,TRUE,FALSE,Active +GARD:10781,Active,Orphanet,ORPHA:53540,Disorder,[Disease],Goldmann-Favre syndrome,"[Enhanced S-cone syndrome, Retinoschisis with early nyctalopia]","Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).",[268100],,,,,Goldmann-Favre syndrome,TRUE,FALSE,Active +GARD:10782,Active,Orphanet,ORPHA:828,Disorder,[Disease],Stickler syndrome,[Hereditary progressive arthroophthalmopathy],"A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.","[614134, 614284, 609508, 108300, 604841]",,,,,Stickler syndrome,TRUE,FALSE,Active +GARD:10783,Active,Orphanet,ORPHA:208444,Subtype of disorder,[Clinical subtype],Bilateral frontal polymicrogyria,,,,,,,,Bilateral frontal polymicrogyria,TRUE,FALSE,Active +GARD:10784,Active,Orphanet,ORPHA:101070,Subtype of disorder,[Clinical subtype],Bilateral frontoparietal polymicrogyria,,"Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.",[606854],,,,,Bilateral frontoparietal polymicrogyria,TRUE,FALSE,Active +GARD:10785,Active,Orphanet,ORPHA:208441,Subtype of disorder,[Clinical subtype],Bilateral parasagittal parieto-occipital polymicrogyria,,,[612691],,,,,Bilateral parasagittal parieto-occipital polymicrogyria,TRUE,FALSE,Active +GARD:10786,Active,Orphanet,ORPHA:208447,Subtype of disorder,[Clinical subtype],Bilateral generalized polymicrogyria,,,,,,,,Bilateral generalized polymicrogyria,TRUE,FALSE,Active +GARD:10787,Legacy,GARD,,,,,,,,,,,,Spina bifida occulta,FALSE,FALSE,Active +GARD:10788,Active,Orphanet,ORPHA:60030,Disorder,[Malformation syndrome],Loeys-Dietz syndrome,[Aortic aneurysm syndrome due to TGF-beta receptors anomalies],"Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.","[610168, 609192]",,,,,Loeys-Dietz syndrome,TRUE,FALSE,Active +GARD:10790,Active,Orphanet,ORPHA:1872,Disorder,[Disease],Cone rod dystrophy,,"A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.","[300476, 604116, 303700, 618555, 610381, 604393, 120970, 616502, 304020, 605549, 610478, 602093, 300834, 615973, 612657, 610283, 614500, 600977, 608194, 603649, 601777, 615163, 615860, 613660, 612775, 600624, 615374]",,,,,Cone-rod dystrophy,TRUE,FALSE,Active +GARD:10791,Active,Orphanet,ORPHA:250831,Disorder,[Disease],Logopenic progressive aphasia,"[LPA, Logopenic primary progressive aphasia, Logopenic variant PPA]","Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.",,,,,,Logopenic progressive aphasia,TRUE,FALSE,Active +GARD:10792,Active,Orphanet,ORPHA:100069,Disorder,[Disease],Semantic dementia,"[Semantic primary progressive aphasia, Semantic variant PPA]","Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.","[172700, 600274]",,,,,Semantic dementia,TRUE,FALSE,Active +GARD:10793,Active,Orphanet,ORPHA:100070,Disorder,[Disease],Progressive non-fluent aphasia,"[Agramatic variant of PPA, Agramatic variant of primary progressive aphasia, Non-fluent variant PPA]","Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.","[172700, 607485, 600274]",,,,,Progressive non-fluent aphasia,TRUE,FALSE,Active +GARD:10794,Active,Orphanet,ORPHA:157835,Disorder,[Disease],Paroxysmal hemicrania,,A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.,,,,,,Paroxysmal hemicrania,TRUE,FALSE,Active +GARD:10795,Active,Orphanet,ORPHA:443070,Disorder,[Disease],Hemicrania continua,,"A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype).",,,,,,Hemicrania continua,TRUE,FALSE,Active +GARD:10796,Active,Orphanet,ORPHA:276429,Disorder,[Disease],Hypnic headache,,"A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present.",,,,,,Hypnic headache,TRUE,FALSE,Active +GARD:10797,Legacy,GARD,,,,,,,,,,,,New daily-persistent headache,TRUE,FALSE,Active +GARD:10798,Legacy,GARD,,,,,,,,,,,,Thunderclap headache,TRUE,FALSE,Active +GARD:10799,Legacy,GARD,,,,,,,,,,,,Cough headache,TRUE,FALSE,Active +GARD:108,Active,Orphanet,ORPHA:206583,Subtype of disorder,[Clinical subtype],Adult polyglucosan body disease,[APBD],"A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.",[263570],,,,,Adult polyglucosan body disease,TRUE,FALSE,Active +GARD:10800,Legacy,GARD,,,,,,,,,,,,Exertional headache,TRUE,FALSE,Active +GARD:10801,Active,Orphanet,ORPHA:34149,Disorder,[Disease],Autosomal dominant tubulointerstitial kidney disease,"[ADTKD, Familial juvenile hyperuricemic nephropathy, MCKD, Medullary cystic kidney disease]","A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).","[162000, 174000]",,,,,Autosomal dominant tubulointerstitial kidney disease,TRUE,FALSE,Active +GARD:10802,Legacy,GARD,,,,,,,,,,,,Intravenous leiomyomatosis,TRUE,FALSE,Active +GARD:10803,Active,Orphanet,ORPHA:313,Disorder,[Disease],Lamellar ichthyosis,"[Classic lamellar ichthyosis, Congenital lamellar ichthyosis, LI]",Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.,"[242300, 604777, 617571, 606545, 613943, 612281, 601277]",,,,,Lamellar ichthyosis,TRUE,FALSE,Active +GARD:10804,Active,Orphanet,ORPHA:213531,Disorder,[Disease],Metaplastic carcinoma of the breast,,"Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.",,,,,,Metaplastic carcinoma of the breast,TRUE,FALSE,Active +GARD:10805,Active,Orphanet,ORPHA:247798,Subtype of disorder,[Clinical subtype],MUTYH-related attenuated familial adenomatous polyposis,"[MUTYH-related AFAP, MUTYH-related attenuated FAP, MUTYH-related attenuated familial polyposis coli]",,[608456],,,,,MYH-associated polyposis,TRUE,FALSE,Active +GARD:10806,Active,Orphanet,ORPHA:101039,Disorder,[Disease],Female restricted epilepsy with intellectual disability,"[EFMR, Juberg-Hellman syndrome]","Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.",[300088],,,,,PCDH19-related female-limited epilepsy,TRUE,FALSE,Active +GARD:10807,Legacy,GARD,,,,,,,,,,,,Infantile scoliosis,TRUE,FALSE,Active +GARD:10808,Active,Orphanet,ORPHA:411593,Disorder,[Disease],Insulin autoimmune syndrome,[Hirata disease],"A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.",,,,,,Insulin autoimmune syndrome,TRUE,FALSE,Active +GARD:10809,Active,Orphanet,ORPHA:279947,Disorder,[Clinical syndrome],Postorgasmic illness syndrome,[POIS],"Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.",,,,,,Postorgasmic illness syndrome,TRUE,FALSE,Active +GARD:1081,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Fragoso syndrome,TRUE,FALSE,Active +GARD:10810,Active,Orphanet,ORPHA:329308,Disorder,[Disease],Fatty acid hydroxylase-associated neurodegeneration,[FAHN],"Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.",[612319],,,,,Fatty acid hydroxylase-associated neurodegeneration,TRUE,FALSE,Active +GARD:10811,Legacy,GARD,,,,,,,,,,,,Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature,TRUE,FALSE,Active +GARD:10812,Legacy,GARD,,,,,,,,,,,,Patulous Eustachian Tube,FALSE,FALSE,Active +GARD:10813,Active,Orphanet,ORPHA:250989,Disorder,[Malformation syndrome],1q21.1 microdeletion syndrome,"[Del(1)(q21), Monosomy 1q21.1]",1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.,[612474],,,,,1q21.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:10814,Active,Orphanet,ORPHA:79102,Disorder,[Disease],Thyrotoxic periodic paralysis,[Thyrotoxic hypokalemic periodic paralysis],Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.,"[614834, 613239, 188580]",,,,,Thyrotoxic periodic paralysis,TRUE,FALSE,Active +GARD:10815,Legacy,GARD,,,,,,,,,,,,Prothrombin-related thrombophilia,TRUE,FALSE,Active +GARD:10816,Active,Orphanet,ORPHA:254463,Disorder,[Disease],Lichen planus pigmentosus,"[LP pigmentosa, LP pigmentosus, Lichen planus pigmentosa, Lichen planus pigmentosus inversus]",Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.,,,,,,Lichen planus pigmentosus,TRUE,FALSE,Active +GARD:10817,Active,Orphanet,ORPHA:101011,Disorder,[Disease],Autosomal dominant spastic paraplegia type 31,[SPG31],"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.",[610250],,,,,Spastic paraplegia 31,TRUE,FALSE,Active +GARD:10818,Active,Orphanet,ORPHA:289504,Disorder,[Disease],Combined malonic and methylmalonic acidemia,"[CMAMMA, Combined malonic and methylmalonic aciduria]","Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.",[614265],,,,,Combined malonic and methylmalonic aciduria,TRUE,FALSE,Active +GARD:10819,Legacy,GARD,,,,,,,,,,,,Sickle delta beta thalassemia,TRUE,FALSE,Active +GARD:1082,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Garcia-Cruz syndrome,TRUE,FALSE,Active +GARD:10820,Legacy,GARD,,,,,,,,,,,,California encephalitis,TRUE,FALSE,Active +GARD:10821,Active,Orphanet,ORPHA:83594,Disorder,[Disease],Eastern equine encephalitis,[Eastern equine encephalomyelitis],"An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.",,,,,,Eastern equine encephalitis,TRUE,FALSE,Active +GARD:10822,Active,Orphanet,ORPHA:458718,Disorder,[Disease],Idiopathic spontaneous coronary artery dissection,[Idiopathic SCAD],"A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.",[122455],,,,,Spontaneous coronary artery dissection,TRUE,FALSE,Active +GARD:10823,Active,Orphanet,ORPHA:71526,Subtype of disorder,[Etiological subtype],Obesity due to pro-opiomelanocortin deficiency,[POMC deficiency],"Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.","[601665, 609734]",,,,,Proopiomelanocortin deficiency,TRUE,FALSE,Active +GARD:10824,Active,Orphanet,ORPHA:189427,Disorder,[Disease],Cushing syndrome due to macronodular adrenal hyperplasia,[Primary bilateral macronodular adrenal hyperplasia],A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.,"[219080, 615954]",,,,,ACTH-independent macronodular adrenal hyperplasia,TRUE,FALSE,Active +GARD:10825,Legacy,GARD,,,,,,,,,,,,Tufted hair folliculitis,TRUE,FALSE,Retired +GARD:10826,Legacy,GARD,,,,,,,,,,,,Central centrifugal cicatricial alopecia,TRUE,FALSE,Active +GARD:10827,Legacy,GARD,,,,,,,,,,,,KSHV inflammatory cytokine syndrome,TRUE,FALSE,Active +GARD:10828,Active,Orphanet,ORPHA:405,Disorder,[Disease],Familial hypocalciuric hypercalcemia,"[FBH, FBHH, FHH, Familial benign hypercalcemia, Familial benign hypocalciuric hypercalcemia]",Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.,"[145981, 600740, 145980]",,,,,Familial hypocalciuric hypercalcemia,TRUE,FALSE,Active +GARD:10829,Active,Orphanet,ORPHA:99880,Disorder,[Disease],Hyperparathyroidism-jaw tumor syndrome,[HPT-JT],"A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.",[145001],,,,,Hyperparathyroidism-jaw tumor syndrome,TRUE,FALSE,Active +GARD:1083,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Hernandez syndrome,TRUE,FALSE,Active +GARD:10830,Active,Orphanet,ORPHA:263432,Disorder,[Disease],Nevus of Ito,[Nevus fuscocaeruleus acromiodeltoideus],"Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.",,,,,,Nevus of Ito,TRUE,FALSE,Active +GARD:10831,Legacy,GARD,,,,,,,,,,,,1q duplications,TRUE,FALSE,Active +GARD:10832,Legacy,GARD,,,,,,,,,,,,Chromosome 1p duplication,TRUE,FALSE,Active +GARD:10833,Legacy,GARD,,,,,,,,,,,,Chromosome 19q deletion,TRUE,FALSE,Active +GARD:10834,Legacy,GARD,,,,,,,,,,,,Chromosome 19p duplication,TRUE,FALSE,Active +GARD:10835,Legacy,GARD,,,,,,,,,,,,Chromosome 19p deletion,TRUE,FALSE,Active +GARD:10836,Legacy,GARD,,,,,,,,,,,,Chromosome 2p deletion,TRUE,FALSE,Active +GARD:10837,Active,Orphanet,ORPHA:96171,Disorder,[Malformation syndrome],Ring chromosome 2 syndrome,"[Ring 2, Ring chromosome 2]","Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).",,,,,,Ring chromosome 2,TRUE,FALSE,Active +GARD:10838,Legacy,GARD,,,,,,,,,,,,Chromosome 3q deletion,TRUE,FALSE,Active +GARD:10839,Active,Orphanet,ORPHA:96172,Disorder,[Malformation syndrome],Ring chromosome 3 syndrome,"[Ring 3, Ring chromosome 3]","Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.",,,,,,Ring chromosome 3,TRUE,FALSE,Active +GARD:1084,Active,Orphanet,ORPHA:188,Disorder,[Disease],Systemic capillary leak syndrome,"[Capillary hyperpermeability syndrome, Capillary leak syndrome, Clarkson disease, Idiopathic capillary leak syndrome, SCLS]","Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.",,,,,,Systemic capillary leak syndrome,TRUE,FALSE,Active +GARD:10840,Legacy,GARD,,,,,,,,,,,,Chromosome 5q deletion,TRUE,FALSE,Active +GARD:10841,Active,Orphanet,ORPHA:251043,Disorder,[Malformation syndrome],Ring chromosome 5 syndrome,"[Ring 5, Ring chromosome 5]","Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).",,,,,,Ring chromosome 5,TRUE,FALSE,Active +GARD:10842,Legacy,GARD,,,,,,,,,,,,Chromosome 5p deletion,TRUE,FALSE,Active +GARD:10843,Legacy,GARD,,,,,,,,,,,,Chromosome 6p deletion,TRUE,FALSE,Active +GARD:10844,Legacy,GARD,,,,,,,,,,,,Chromosome 9q deletion,TRUE,FALSE,Active +GARD:10845,Legacy,GARD,,,,,,,,,,,,Chromosome 11p duplication,TRUE,FALSE,Active +GARD:10846,Active,Orphanet,ORPHA:96175,Disorder,[Malformation syndrome],Ring chromosome 11 syndrome,"[RC11, Ring 11, Ring chromosome 11, r(11) syndrome]","Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.",,,,,,Ring chromosome 11,TRUE,FALSE,Active +GARD:10847,Legacy,GARD,,,,,,,,,,,,Chromosome 12q deletion,TRUE,FALSE,Active +GARD:10853,Legacy,GARD,,,,,,,,,,,,Chromosome 16p deletion,TRUE,FALSE,Active +GARD:10854,Legacy,GARD,,,,,,,,,,,,Chromosome 16q deletion,TRUE,FALSE,Active +GARD:10855,Active,Orphanet,ORPHA:96178,Disorder,[Malformation syndrome],Ring chromosome 16 syndrome,"[Ring 16, Ring chromosome 16]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.",,,,,,Ring chromosome 16,TRUE,FALSE,Active +GARD:10856,Legacy,GARD,,,,,,,,,,,,Chromosome 20q duplication,TRUE,FALSE,Active +GARD:10857,Legacy,GARD,,,,,,,,,,,,Chromosome 20q deletion,TRUE,FALSE,Active +GARD:10858,Legacy,GARD,,,,,,,,,,,,Chromosome 21q duplication,TRUE,FALSE,Active +GARD:10860,Active,Orphanet,ORPHA:574,Disorder,[Malformation syndrome],Monosomy 21,"[21q deletion syndrome, 21q- syndrome, Partial 21q monosomy]","Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.",,,,,,Chromosome 21q deletion,TRUE,FALSE,Active +GARD:10862,Legacy,GARD,,,,,,,,,,,,Chromosome 22q duplication,TRUE,FALSE,Active +GARD:10865,Active,Orphanet,ORPHA:1600,Disorder,[Malformation syndrome],Monosomy 18q,"[18q deletion syndrome, 18q- syndrome, Deletion 18q]","Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.",[601808],,,,,Distal chromosome 18q deletion syndrome,TRUE,FALSE,Active +GARD:10866,Legacy,GARD,,,,,,,,,,,,Proximal chromosome 18q deletion syndrome,TRUE,FALSE,Active +GARD:10867,Active,Orphanet,ORPHA:867,Subtype of disorder,[Clinical subtype],Familial multiple trichoepithelioma,,,"[612099, 601606]",,,,,Multiple familial trichoepithelioma,TRUE,FALSE,Retired +GARD:10868,Legacy,GARD,,,,,,,,,,,,Mollaret meningitis,TRUE,FALSE,Active +GARD:10869,Legacy,GARD,,,,,,,,,,,,Mosaic trisomy 13,TRUE,FALSE,Active +GARD:10870,Active,Orphanet,ORPHA:834,Disorder,[Disease],Free sialic acid storage disease,,"Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).","[269920, 604369]",,,,,Free sialic acid storage disease,TRUE,FALSE,Active +GARD:10871,Active,Orphanet,ORPHA:309331,Subtype of disorder,[Clinical subtype],Intermediate severe Salla disease,,,,,,,,Intermediate severe Salla disease,TRUE,FALSE,Active +GARD:10872,Active,Orphanet,ORPHA:3148,Disorder,[Disease],Malignant peripheral nerve sheath tumor,"[MPNST, Malignant neurilemmoma, Malignant neurofibroma, Malignant schwannoma, Neurofibrosarcoma, Neurogenic sarcoma]",Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.,,,,,,Malignant peripheral nerve sheath tumor,TRUE,FALSE,Active +GARD:10874,Legacy,GARD,,,,,,,,,,,,Pancreatic agenesis,TRUE,FALSE,Retired +GARD:10875,Active,Orphanet,ORPHA:450,Group of disorders,[Category],Heterotaxia,"[Heterotaxy syndrome, Lateralization defect, Visceral heterotaxy]","Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).","[270100, 605376, 306955, 618948, 617205, 601086, 613751, 616749, 614779, 606325]",,,,,Heterotaxy,TRUE,FALSE,Active +GARD:10876,Active,Orphanet,ORPHA:3269,Disorder,[Morphological anomaly],Congenital radioulnar synostosis,[Radioulnar fusion],"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.",[179300],,,,,Congenital radioulnar synostosis,TRUE,FALSE,Active +GARD:10877,Active,Orphanet,ORPHA:53715,Disorder,[Disease],Familial tumoral calcinosis,,"A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.","[610455, 211900]",,,,,Familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10878,Active,Orphanet,ORPHA:306658,Subtype of disorder,[Clinical subtype],Familial normophosphatemic tumoral calcinosis,,,[610455],,,,,Normophosphatemic familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10879,Active,Orphanet,ORPHA:306661,Subtype of disorder,[Clinical subtype],Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,[Hypercalcemic tumoral calcinosis],"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","[617993, 617994, 211900]",,,,,Hyperphosphatemic familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10880,Active,Orphanet+OMIM,OMIM:613829,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 7,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613829],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 7,TRUE,FALSE,Active +GARD:10881,Active,Orphanet+OMIM,OMIM:613835,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 8,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613835],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 8,TRUE,FALSE,Active +GARD:10882,Active,Orphanet+OMIM,OMIM:612712,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 13,,,[612712],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 13,TRUE,FALSE,Active +GARD:10883,Active,Orphanet+OMIM,OMIM:613341,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 14,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({2:Gu et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.",[613341],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 14,TRUE,FALSE,Active +GARD:10884,Active,Orphanet+OMIM,OMIM:613843,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 15,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by {2:Gu et al., 1997}).\n\nMutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; {600132}).\n\nFor a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.",[613843],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 15,TRUE,FALSE,Active +GARD:10885,Active,Orphanet+OMIM,OMIM:614186,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 16,,,[614186],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 16,TRUE,FALSE,Active +GARD:10886,Active,Orphanet,ORPHA:254492,Disorder,[Disease],Frontal fibrosing alopecia,[FFA],"Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.",,,,,,Frontal fibrosing alopecia,TRUE,FALSE,Active +GARD:10887,Active,Orphanet,ORPHA:488265,Disorder,[Disease],Osteofibrous dysplasia,[OFD],"Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.",[607278],,,,,Osteofibrous dysplasia,TRUE,FALSE,Active +GARD:10888,Legacy,GARD,,,,,,,,,,,,Diffuse dermal angiomatosis,TRUE,FALSE,Active +GARD:10889,Active,Orphanet,ORPHA:73229,Disorder,[Disease],HANAC syndrome,"[Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome]","A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.",[611773],,,,,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome",TRUE,FALSE,Active +GARD:1089,Legacy,GARD,,,,,,,,,,,,Universal acquired melanosis,TRUE,FALSE,Active +GARD:10890,Active,Orphanet,ORPHA:141179,Disorder,[Disease],Non-involuting congenital hemangioma,[NICH],Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed in utero and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.,,,,,,Non-involuting congenital hemangioma,TRUE,FALSE,Active +GARD:10891,Active,Orphanet,ORPHA:354,Disorder,[Disease],GM1 gangliosidosis,"[Beta-galactosidase-1 deficiency, GLB1 deficiency, Landing disease]","GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.","[230650, 230600, 230500]",,,,,GM1 gangliosidosis,TRUE,FALSE,Active +GARD:10892,Active,Orphanet,ORPHA:293642,Group of disorders,[Clinical group],Blepharophimosis-intellectual disability syndrome,[BMRS],,,,,,,Blepharophimosis intellectual disability syndromes,TRUE,FALSE,Active +GARD:10893,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 1,TRUE,FALSE,Retired +GARD:10894,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 2,TRUE,FALSE,Retired +GARD:10895,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 3,TRUE,FALSE,Retired +GARD:10896,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 4,TRUE,FALSE,Retired +GARD:10897,Legacy,GARD,,,,,,,,,,,,Gray zone lymphoma,TRUE,FALSE,Active +GARD:10898,Active,Orphanet,ORPHA:98872,Disorder,[Disease],Primary acquired pure red cell aplasia,[Primary acquired PRCA],"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.",,,,,,Acquired pure red cell aplasia,TRUE,FALSE,Active +GARD:10899,Active,Orphanet,ORPHA:52430,Disorder,[Disease],Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,"[IBMPFD, Limb-girdle muscular dystrophy with Paget disease of bone, Pagetoid amyotrophic lateral sclerosis, Pagetoid neuroskeletal syndrome]","Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.","[167320, 615424, 615422]",,,,,Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia,TRUE,FALSE,Active +GARD:109,Active,Orphanet,ORPHA:2762,Disorder,[Malformation syndrome],Progressive osseous heteroplasia,"[Familial ectopic ossification, POH]","Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.",[166350],,,,,Progressive osseous heteroplasia,TRUE,FALSE,Active +GARD:10900,Active,Orphanet,ORPHA:26106,Disorder,[Disease],Hereditary diffuse gastric cancer,"[FDGC, Familial diffuse cancer of stomach, Familial diffuse gastric cancer, HDGC, Hereditary diffuse cancer of stomach, Hereditary diffuse gastric adenocarcinoma]","Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.",[137215],,,,,Hereditary diffuse gastric cancer,TRUE,FALSE,Active +GARD:10901,Legacy,GARD,,,,,,,,,,,,Aquagenic urticaria,TRUE,FALSE,Active +GARD:10902,Active,Orphanet,ORPHA:263440,Group of disorders,[Clinical group],Neuroacanthocytosis,,Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.,,,,,,Neuroacanthocytosis,TRUE,FALSE,Active +GARD:10903,Active,Orphanet,ORPHA:1293,Group of disorders,[Clinical group],Brachyolmia,,"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.",,,,,,Brachyolmia,TRUE,FALSE,Active +GARD:10904,Legacy,GARD,,,,,,,,,,,,Pityriasis rotunda,TRUE,FALSE,Active +GARD:10905,Active,Orphanet,ORPHA:1775,Disorder,[Disease],Dyskeratosis congenita,"[DC, DKC, Zinsser-Engman-Cole syndrome]","A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.","[613988, 127550, 615190, 613989, 305000, 613987, 224230, 613990, 616353]",,,,,Dyskeratosis congenita,TRUE,FALSE,Active +GARD:10906,Active,Orphanet,ORPHA:189439,Disorder,[Disease],Primary pigmented nodular adrenocortical disease,"[PPNAD, Primary pigmented nodular adrenal dysplasia]",Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).,"[610489, 610475, 614190, 615830]",,,,,Primary pigmented nodular adrenocortical disease,TRUE,FALSE,Active +GARD:10907,Active,Orphanet,ORPHA:317476,Disorder,[Disease],"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia","[CID due to MAGT1 deficiency, Combined immunodeficiency due to MAGT1 deficiency, XMEN]","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.",[300853],,,,,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",TRUE,FALSE,Active +GARD:10908,Legacy,GARD,,,,,,,,,,,,Congenital extrahepatic portosystemic shunt,TRUE,FALSE,Active +GARD:10909,Active,Orphanet,ORPHA:99000,Disorder,[Disease],Adult-onset foveomacular vitelliform dystrophy,"[AOFMD, AVMD, Adult-onset foveomacular dystrophy, Adult-onset foveomacular dystrophy with choroidal neovascularization, Adult-onset vitelliform macular dystrophy, Gass disease, Pseudo-Best disease, Pseudo-vitelliform macular dystrophy]","A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.","[608161, 153840, 616151, 616152]",,,,,Adult-onset vitelliform macular dystrophy,TRUE,FALSE,Active +GARD:1091,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma,FALSE,FALSE,Active +GARD:10910,Active,Orphanet,ORPHA:57196,Disorder,[Disease],Medial condensing osteitis of the clavicle,[Osteitis condensans of the clavicle],"A rare bone disease characterized by benign, usually unilateral, sclerosis of the inferomedial third of the clavicle. Patients present with localized swelling and persistent pain. Typical radiographic findings are expansion of the medial end of the clavicle with increased radio-density and signs of bone remodeling.",,,,,,Condensing osteitis of the clavicle,TRUE,FALSE,Active +GARD:10911,Active,Orphanet,ORPHA:103919,Group of disorders,[Clinical group],Autoimmune pancreatitis,[AIP],"A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.",,,,,,Autoimmune pancreatitis,TRUE,FALSE,Active +GARD:10912,Legacy,GARD,,,,,,,,,,,,Fournier gangrene,TRUE,FALSE,Active +GARD:10913,Active,Orphanet,ORPHA:381,Disorder,[Disease],Griscelli syndrome,"[Chédiak-Higashi-like syndrome, Griscelli-Pruniéras syndrome, Partial albinism-immunodeficiency syndrome]","Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).","[609227, 607624, 214450]",,,,,Griscelli syndrome,TRUE,FALSE,Active +GARD:10914,Active,Orphanet,ORPHA:86820,Disorder,[Disease],Familial avascular necrosis of femoral head,[Familial osteonecrosis of the femoral head],"Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.","[608805, 617383]",,,,,Familial avascular necrosis of the femoral head,TRUE,FALSE,Active +GARD:10915,Active,Orphanet,ORPHA:2442,Group of disorders,[Clinical group],X-linked lymphoproliferative disease,"[Duncan disease, Purtilo syndrome, XLP]",,"[308240, 300635]",,,,,X-linked lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:10916,Active,Orphanet,ORPHA:538934,Disorder,[Disease],X-linked lymphoproliferative disease due to XIAP deficiency,"[X-linked lymphoproliferative syndrome type 2, XIAP deficiency syndrome, XLP2]","A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.",[300635],,,,,X-linked lymphoproliferative syndrome 2,TRUE,FALSE,Active +GARD:10917,Active,Orphanet,ORPHA:139441,Disorder,[Disease],Hypomyelination with atrophy of basal ganglia and cerebellum,[H-ABC],"A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.","[617899, 612438]",,,,,Hypomyelination with atrophy of basal ganglia and cerebellum,TRUE,FALSE,Active +GARD:10918,Legacy,GARD,,,,,,,,,,,,Idiopathic spinal cord herniation,TRUE,FALSE,Active +GARD:10919,Active,Orphanet,ORPHA:269229,Disorder,[Morphological anomaly],Pontine tegmental cap dysplasia,[PTCD],"Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.",[614688],,,,,Pontine tegmental cap dysplasia,TRUE,FALSE,Active +GARD:10920,Legacy,GARD,,,,,,,,,,,,Localized hypertrophic neuropathy,TRUE,FALSE,Active +GARD:10921,Active,Orphanet,ORPHA:100003,Disorder,[Disease],Intraneural perineurioma,,"Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.",,,,,,Intraneural perineurioma,TRUE,FALSE,Active +GARD:10922,Active,Orphanet,ORPHA:261534,Disorder,[Malformation syndrome],"49,XXXYY syndrome",,"49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.",,,,,,"49, XXXYY syndrome",TRUE,FALSE,Active +GARD:10923,Active,Orphanet,ORPHA:308166,Group of disorders,[Clinical group],Erythrokeratoderma variabilis progressiva,,"Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.",,,,,,Erythrokeratodermia variabilis et progressiva,TRUE,FALSE,Active +GARD:10924,Active,Orphanet,ORPHA:139411,Disorder,[Disease],Carney triad,,"A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.",[604287],,,,,Carney triad,TRUE,FALSE,Active +GARD:10925,Active,Orphanet,ORPHA:83483,Disorder,[Disease],La Crosse encephalitis,[Californian encephalitis],"An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.",,,,,,La Crosse encephalitis,TRUE,FALSE,Active +GARD:10926,Legacy,GARD,,,,,,,,,,,,Pulmonary hyalinizing granuloma,TRUE,FALSE,Active +GARD:10927,Active,Orphanet,ORPHA:208650,Group of disorders,[Clinical group],Cryopyrin-associated periodic syndrome,"[CAPS, Cryopyrinopathy, NLRP3-associated systemic autoinflammatory disease]","Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).",,,,,,Cryopyrin-associated periodic syndrome,TRUE,FALSE,Active +GARD:10928,Legacy,GARD,,,,,,,,,,,,Progressive bulbar palsy,TRUE,FALSE,Active +GARD:10929,Active,Orphanet,ORPHA:48372,Subtype of disorder,[Histopathological subtype],Nodular regenerative hyperplasia of the liver,[Non-cirrhotic nodulation],A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm).,,,,,,Nodular regenerative hyperplasia,TRUE,FALSE,Active +GARD:1093,Active,Orphanet+OMIM,OMIM:113900,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ia","[cardiac conduction defect, progressive, heart block, progressive familial, type i, Pfhbia, hereditary bundle branch system defect, bundle branch block, lenegre-lev disease]","Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block ({4:Brink and Torrington, 1977}; {28:van der Merwe et al., 1986}; {29:van der Merwe et al., 1988}). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; {140400}), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker ({5:Brink et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Progressive Familial Heart Block Type I\n\nProgressive familial heart block type IB (PFHB1B; {604559}) is caused by mutation in the TRPM4 gene ({606936}) on chromosome 19q13.32.",[113900],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 1A,TRUE,FALSE,Active +GARD:10930,Legacy,GARD,,,,,,,,,,,,Dieulafoy lesion,TRUE,FALSE,Active +GARD:10931,Legacy,GARD,,,,,,,,,,,,Orbital varix,TRUE,FALSE,Active +GARD:10932,Legacy,GARD,,,,,,,,,,,,Ocular neuromyotonia,TRUE,FALSE,Active +GARD:10933,Active,Orphanet+OMIM,OMIM:613402,Subtype of disorder,[Clinical syndrome subtype],"Microcephaly, seizures, and developmental delay","[epileptic encephalopathy, early infantile, 10, Developmental and epileptic encephalopathy 10]","Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients develop refractory seizures in infancy, consistent with a developmental and epileptic encephalopathy (DEE), whereas others have more well-controlled seizures and a more protracted course associated with cerebellar atrophy and peripheral neuropathy ({2:Shen et al., 2010} and {1:Poulton et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[613402],[1934],[Early infantile epileptic encephalopathy],[9255],,"Microcephaly, seizures, and developmental delay",TRUE,FALSE,Active +GARD:10934,Active,Orphanet,ORPHA:228423,Disorder,[Disease],Monocytopenia with susceptibility to infections,"[Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, Dendritic cell, monocyte, B and NK lymphoid deficiency, MonoMAC, Monocyte-B-natural killer-dendritic cell deficiency syndrome, Monocytopenia and mycobacterial infection syndrome]","Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.",[614172],,,,,"Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency",TRUE,FALSE,Active +GARD:10935,Active,Orphanet,ORPHA:261250,Disorder,[Malformation syndrome],16q24.3 microdeletion syndrome,"[Del(16)(q24.3), Monosomy 16q24.3]","16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.",,,,,,16q24.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:10936,Active,Orphanet,ORPHA:261279,Disorder,[Malformation syndrome],17q23.1q23.2 microdeletion syndrome,"[Del(17)(q23.1q23.2), Monosomy 17q23.1q23.2]","17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.",[613355],,,,,17q23.1q23.2 microdeletion syndrome,TRUE,FALSE,Active +GARD:10937,Active,Orphanet+OMIM,OMIM:613327,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 4","[lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy, Berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy]","Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy ({608594}) with muscular dystrophy and cardiac conduction anomalies ({2:Hayashi et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[613327],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 4,TRUE,FALSE,Active +GARD:10938,Active,Orphanet,ORPHA:231736,Disorder,[Malformation syndrome],Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,[MPPC syndrome],"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.",,,,,,Microcornea posterior megalolenticonus persistent fetal vasculature coloboma,TRUE,FALSE,Active +GARD:10939,Active,Orphanet,ORPHA:140944,Disorder,[Malformation syndrome],CLOVES syndrome,"[Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome]","CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.",[612918],,,,,CLOVES syndrome,TRUE,FALSE,Active +GARD:1094,Active,Orphanet,ORPHA:1686,Disorder,[Morphological anomaly],Cardiac diverticulum,,"Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.",,,,,,Cardiac diverticulum,TRUE,FALSE,Active +GARD:10940,Active,Orphanet,ORPHA:88633,Disorder,[Disease],Superior limbic keratoconjunctivitis,"[SLK, Theodore superior limbic keratoconjunctivitis, Theodore syndrome]","A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.",,,,,,Superior limbic keratoconjunctivitis,TRUE,FALSE,Active +GARD:10941,Active,Orphanet,ORPHA:280886,Group of disorders,[Category],Anterior uveitis,[Iridocyclitis],,,,,,,Anterior uveitis,TRUE,FALSE,Active +GARD:10942,Active,Orphanet,ORPHA:238763,Disorder,[Malformation syndrome],Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,[Megalocornea-spherophakia-secondary glaucoma syndrome],"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.",[251750],,,,,Megalocornea - spherophakia - secondary glaucoma,TRUE,FALSE,Active +GARD:10943,Active,Orphanet,ORPHA:238769,Disorder,[Malformation syndrome],1q44 microdeletion syndrome,"[Del(1)(q44), Monosomy 1q44]","1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.",,,,,,1q44 microdeletion syndrome,TRUE,FALSE,Active +GARD:10944,Active,Orphanet,ORPHA:464443,Disorder,[Disease],COG6-CGD,"[CDG syndrome type IIL, CDG-IIL, CDG2L, Congenital disorder of glycosylation type 2l, Congenital disorder of glycosylation type IIL]","A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.",[614576],,,,,COG6-CDG (CDG-IIL),TRUE,FALSE,Active +GARD:10945,Active,Orphanet,ORPHA:391677,Disorder,[Malformation syndrome],Short stature-optic atrophy-Pelger-Huët anomaly syndrome,[SOPH syndrome],"A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.",[614800],,,,,Short stature with optic atrophy and Pelger-Huët anomaly syndrome,TRUE,FALSE,Active +GARD:10946,Active,Orphanet,ORPHA:54251,Disorder,[Disease],Corticosteroid-sensitive aseptic abscess syndrome,"[Aseptic abscesses syndrome, Aseptic systemic abscesses, Disseminated aseptic abscesses]",Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.,,,,,,Corticosteroid-sensitive aseptic abscesses,TRUE,FALSE,Active +GARD:10947,Active,Orphanet,ORPHA:178338,Disorder,[Disease],UV-sensitive syndrome,,"A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.","[614621, 614640, 600630]",,,,,UV sensitive syndrome,TRUE,FALSE,Active +GARD:10948,Active,Orphanet,ORPHA:280379,Disorder,[Disease],Erythropoietic uroporphyria associated with myeloid malignancy,,"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.",,,,,,Erythropoietic uroporphyria associated with myeloid malignancy,TRUE,FALSE,Active +GARD:10949,Active,Orphanet,ORPHA:73267,Disorder,[Disease],Non-24-hour sleep-wake syndrome,[Hypernychthemeral syndrome],A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.,,,,,,Non 24 hour sleep wake disorder,TRUE,FALSE,Active +GARD:10951,Active,Orphanet,ORPHA:158011,Disorder,[Disease],Necrobiotic xanthogranuloma,,"Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.",,,,,,Necrobiotic xanthogranuloma,TRUE,FALSE,Active +GARD:10952,Legacy,GARD,,,,,,,,,,,,Bow hunter's stroke,TRUE,FALSE,Active +GARD:10953,Legacy,GARD,,,,,,,,,,,,MTHFR gene variant,FALSE,FALSE,Active +GARD:10954,Active,Orphanet,ORPHA:6,Disorder,[Disease],3-methylcrotonyl-CoA carboxylase deficiency,"[3-methylcrotonylglycinuria, MCC deficiency, MCCD]",A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.,"[210210, 210200]",,,,,3-methylcrotonyl-CoA carboxylase deficiency,TRUE,FALSE,Active +GARD:10955,Active,Orphanet,ORPHA:648,Disorder,[Malformation syndrome],Noonan syndrome,,"A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.","[611553, 609942, 618624, 605275, 613224, 613706, 616559, 619087, 615355, 616564, 618499, 163950, 610733]",,,,,Noonan syndrome,TRUE,FALSE,Active +GARD:10956,Active,Orphanet,ORPHA:331223,Group of disorders,[Clinical group],Hyper-IgE syndrome,,,,,,,,Hyper IgE syndrome,TRUE,FALSE,Active +GARD:10957,Active,Orphanet,ORPHA:209981,Disorder,[Disease],IRIDA syndrome,[Iron-refractory iron deficiency anemia],"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.",[206200],,,,,Iron-refractory iron deficiency anemia,TRUE,FALSE,Active +GARD:10958,Active,Orphanet,ORPHA:55,Group of disorders,[Clinical group],Oculocutaneous albinism,[OCA],"A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.",,,,,,Oculocutaneous albinism,TRUE,FALSE,Active +GARD:10959,Active,Orphanet,ORPHA:314777,Disorder,[Disease],Familial isolated pituitary adenoma,[FIPA],"A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.",[102200],,,,,Familial isolated pituitary adenoma,TRUE,FALSE,Active +GARD:1096,Active,Orphanet,ORPHA:555877,Disorder,[Morphological anomaly],FLNA-related X-linked myxomatous valvular dysplasia,"[FLNA-related valvular dystrophy, Filamin A-related X-linked myxomatous valvular dysplasia]","A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.",[314400],,,,,X-linked cardiac valvular dysplasia,TRUE,FALSE,Active +GARD:10960,Legacy,GARD,,,,,,,,,,,,Linear IgA disease,TRUE,FALSE,Active +GARD:10961,Legacy,GARD,,,,,,,,,,,,Collagenous gastritis,TRUE,FALSE,Active +GARD:10962,Active,Orphanet,ORPHA:284227,Disorder,[Clinical syndrome],TEMPI syndrome,[Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome],"TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.",,,,,,TEMPI syndrome,TRUE,FALSE,Active +GARD:10963,Legacy,GARD,,,,,,,,,,,,Pyogenic granuloma,FALSE,FALSE,Active +GARD:10964,Active,Orphanet,ORPHA:99921,Subtype of disorder,[Clinical subtype],Chronic graft versus host disease,,,,,,,,Chronic graft versus host disease,TRUE,FALSE,Active +GARD:10965,Active,Orphanet,ORPHA:313855,Disorder,[Disease],FGFR2-related bent bone dysplasia,[Perinatal lethal bent bone dysplasia],"FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.",[614592],,,,,Bent bone dysplasia syndrome,TRUE,FALSE,Active +GARD:10966,Active,Orphanet,ORPHA:85414,Disorder,[Disease],Systemic-onset juvenile idiopathic arthritis,"[Still disease, Systemic-onset JIA]","A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittently high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","[604302, 618795]",,,,,Systemic onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10967,Legacy,GARD,,,,,,,,,,,,Polyarticular onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10968,Legacy,GARD,,,,,,,,,,,,Pauciarticular onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10969,Active,Orphanet,ORPHA:85438,Disorder,[Disease],Enthesitis-related juvenile idiopathic arthritis,"[Enthesitis-related JIA, Juvenile ERA]","A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.",,,,,,Enthesitis-related juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:1097,Legacy,GARD,,,,,,,,,,,,Cardiofacial syndrome short limbs,TRUE,FALSE,Active +GARD:10970,Active,Orphanet,ORPHA:85436,Disorder,[Disease],Psoriasis-related juvenile idiopathic arthritis,"[Juvenile psoriatic arthritis, Psoriasis-related JIA]","A rare pediatric inflammatory rheumatic disease characterized by the presence of arthritis accompanied by either psoriasis or at least two of the following supporting features; presence of nail pitting, onycholysis, dactylitis, or a family history of psoriasis in a first degree relative. Patients are younger than 16 years of age and the disease lasts longer than 6 weeks.",,,,,,Psoriatic juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10971,Legacy,GARD,,,,,,,,,,,,"Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy",TRUE,FALSE,Retired +GARD:10972,Active,Orphanet,ORPHA:1597,Disorder,[Malformation syndrome],Distal monosomy 17q,"[Distal 17q deletion, Monosomy 17qter, Telomeric deletion 17q]","A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.",,,,,,Chromosome 17q deletion,TRUE,FALSE,Active +GARD:10973,Active,Orphanet,ORPHA:79262,Disorder,[Disease],Adult neuronal ceroid lipofuscinosis,"[ANCL, Adult NCL, Kufs disease]","A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.","[610127, 615362, 204300, 601780, 256730, 614706, 162350]",,,,,Adult neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:10974,Active,Orphanet+OMIM,OMIM:609634,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 3",,"Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks ({1:Dichgans et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 ({141500}).",[609634],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 3,TRUE,FALSE,Retired +GARD:10975,Legacy,GARD,,,,,,,,,,,,Familial hemiplegic migraine,TRUE,FALSE,Active +GARD:10976,Legacy,GARD,,,,,,,,,,,,Ulcerative proctitis,TRUE,FALSE,Active +GARD:10977,Active,Orphanet,ORPHA:98523,Group of disorders,[Clinical group],Non-syndromic pontocerebellar hypoplasia,"[PCH, Pontoneocerebellar atrophy, Pontoneocerebellar hypoplasia]","A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.",,,,,,Pontocerebellar hypoplasia,TRUE,FALSE,Active +GARD:10978,Legacy,GARD,,,,,,,,,,,,Chromosome Xp deletion,TRUE,FALSE,Active +GARD:10979,Legacy,GARD,,,,,,,,,,,,Lymphangiomatosis,TRUE,FALSE,Active +GARD:10980,Active,Orphanet,ORPHA:227982,Disorder,[Disease],Autoimmune polyendocrinopathy type 3,"[APS type 3, APS3, Autoimmune polyendocrine syndrome type 3, Autoimmune polyglandular syndrome type 3]","A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.",,,,,,Autoimmune polyglandular syndrome type 3,TRUE,FALSE,Active +GARD:10981,Active,Orphanet,ORPHA:313808,Disorder,[Disease],Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,"[ALSP, Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Autosomal dominant leukoencephalopathy with neuroaxonal spheroids, FPSG, Familial dementia, Neumann type, Familial progressive subcortical gliosis, GPSC, HDLS, Hereditary diffuse leukoencephalopathy with spheroids, POLD, Pigmentary orthochromatic leukodystrophy, Subcortical gliosis of Neumann]","Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.",[221820],,,,,Hereditary diffuse leukoencephalopathy with spheroids,TRUE,FALSE,Active +GARD:10982,Legacy,GARD,,,,,,,,,,,,Isochromosome Yp,TRUE,FALSE,Active +GARD:10983,Active,Orphanet,ORPHA:79152,Disorder,[Disease],Disseminated superficial actinic porokeratosis,,"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.","[614714, 616631, 607728, 175900, 612353, 616063, 612293]",,,,,Disseminated superficial actinic porokeratosis,TRUE,FALSE,Active +GARD:10984,Active,Orphanet,ORPHA:319552,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,"[MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.,[614891],,,,,IL12RB1 deficiency,TRUE,FALSE,Active +GARD:10985,Active,Orphanet,ORPHA:54260,Disorder,[Disease],Left ventricular noncompaction,"[LVNC, Left ventricular hypertrabeculation, Spongy myocardium]","A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.","[615396, 613426, 615092, 609470, 613424, 604169, 601493, 615373, 601494, 611878]",,,,,Left ventricular noncompaction,TRUE,FALSE,Active +GARD:10986,Active,Orphanet,ORPHA:33111,Disorder,[Disease],Granulomatous slack skin,,"Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.",,,,,,Granulomatous slack skin disease,TRUE,FALSE,Active +GARD:10987,Legacy,GARD,,,,,,,,,,,,Cauda equina syndrome,TRUE,FALSE,Active +GARD:10988,Legacy,GARD,,,,,,,,,,,,JMP syndrome,TRUE,FALSE,Active +GARD:10989,Active,Orphanet,ORPHA:363649,Disorder,[Disease],Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,"[MDP syndrome, MDPL syndrome, Mandibular hypoplasia-hearing loss-progeroid syndrome]","A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.",[615381],,,,,"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome",TRUE,FALSE,Active +GARD:1099,Legacy,GARD,,,,,,,,,,,,Cardiomelic syndrome Stratton Koehler type,TRUE,FALSE,Active +GARD:10990,Legacy,GARD,,,,,,,,,,,,Chromosome 15q25.2 microdeletion,TRUE,FALSE,Active +GARD:10991,Active,Orphanet,ORPHA:254346,Disorder,[Malformation syndrome],19p13.12 microdeletion syndrome,"[Del(19)(p13.12), Monosomy 19p13.12]","19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.",,,,,,19p13.12 microdeletion syndrome,TRUE,FALSE,Active +GARD:10992,Active,Orphanet,ORPHA:254343,Disorder,[Disease],Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,"[Autosomal recessive spastic ataxia type 4, SPAX4]","A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.",[613672],,,,,Autosomal recessive spastic ataxia 4,TRUE,FALSE,Active +GARD:10993,Legacy,GARD,,,,,,,,,,,,Superior semicircular canal dehiscence syndrome,TRUE,FALSE,Active +GARD:10994,Active,Orphanet,ORPHA:85201,Disorder,[Malformation syndrome],Genitopatellar syndrome,[Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome],"Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.",[606170],,,,,Genitopatellar syndrome,TRUE,FALSE,Active +GARD:10995,Active,Orphanet,ORPHA:402364,Disorder,[Malformation syndrome],Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,,"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.",[613668],,,,,"Postnatal progressive microcephaly, seizures, and brain atrophy",TRUE,FALSE,Active +GARD:10996,Active,Orphanet,ORPHA:319171,Disorder,[Malformation syndrome],Distal 17p13.1 microdeletion syndrome,[Distal del(17)(p13.1)],"Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.",,,,,,Chromosome 17p13.1 deletion syndrome,TRUE,FALSE,Active +GARD:10997,Active,Orphanet,ORPHA:284984,Disorder,[Disease],Aneurysm-osteoarthritis syndrome,,"A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.",[613795],,,,,Loeys-Dietz syndrome type 3,TRUE,FALSE,Active +GARD:10998,Active,Orphanet,ORPHA:228402,Disorder,[Malformation syndrome],2q23.1 microdeletion syndrome,"[Del(2)(q23.1), Monosomy 2q23.1, Pseudo-Angelman syndrome]","The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.",[156200],,,,,2q23.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:10999,Active,Orphanet,ORPHA:280763,Disorder,[Disease],Severe intellectual disability and progressive spastic paraplegia,[AP4 deficiency syndrome],"Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.","[612936, 614066, 614067, 613744]",,,,,Spastic paraplegia 51,TRUE,FALSE,Active +GARD:11,Active,Orphanet,ORPHA:2131,Disorder,[Disease],Alternating hemiplegia of childhood,[AHC],"A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep.","[614820, 104290]",,,,,Alternating hemiplegia of childhood,TRUE,FALSE,Active +GARD:1100,Active,Orphanet,ORPHA:500,Disorder,[Malformation syndrome],Noonan syndrome with multiple lentigines,"[Cardiomyopathic lentiginosis, Familial multiple lentigines syndrome, LEOPARD syndrome]","A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.","[611554, 151100, 613707]",,,,,LEOPARD syndrome,TRUE,FALSE,Active +GARD:11000,Active,Orphanet,ORPHA:319651,Disorder,[Disease],Constitutional megaloblastic anemia with severe neurologic disease,"[DHFR deficiency, Dihydrofolate reductase deficiency]",,[613839],,,,,Megaloblastic anemia due to dihydrofolate reductase deficiency,TRUE,FALSE,Active +GARD:11001,Legacy,GARD,,,,,,,,,,,,Slipped capital femoral epiphysis,FALSE,FALSE,Active +GARD:11002,Legacy,GARD,,,,,,,,,,,,Chromosome Xq deletion,TRUE,FALSE,Active +GARD:11003,Active,Orphanet,ORPHA:401996,Disorder,[Disease],Karyomegalic interstitial nephritis,"[KIN, Systemic karyomegaly]","Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.",[614817],,,,,Karyomegalic interstitial nephritis,TRUE,FALSE,Active +GARD:11004,Active,Orphanet,ORPHA:79150,Disorder,[Disease],Linear and whorled nevoid hypermelanosis,[LWNH],"A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.",[614323],,,,,Linear and whorled nevoid hypermelanosis,TRUE,FALSE,Active +GARD:11005,Active,Orphanet,ORPHA:163703,Disorder,[Disease],Febrile infection-related epilepsy syndrome,"[AERRPS, Acute encephalitis with refractory repetitive partial seizures, Acute non-herpetic encephalitis with severe refractory status epilepticus, DESC syndrome, Devastating epileptic encephalopathy in school-aged children, FIRES, Fever-induced refractory epileptic encephalopathy in school-aged children, Idiopathic catastrophic epileptic encephalopathy, Severe refractory status epilepticus owing to presumed encephalitis]","A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.",,,,,,Febrile infection-related epilepsy syndrome,TRUE,FALSE,Active +GARD:11006,Active,Orphanet,ORPHA:300501,Disorder,[Malformation syndrome],Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,,"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.",,,,,,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,TRUE,FALSE,Active +GARD:11007,Active,Orphanet,ORPHA:300504,Disorder,[Disease],Onychocytic matricoma,[Acanthoma of the nail matrix],"Onychocytic matricoma is a rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.",,,,,,Onychocytic matricoma,TRUE,FALSE,Active +GARD:11008,Active,Orphanet,ORPHA:280576,Disorder,[Malformation syndrome],Nestor-Guillermo progeria syndrome,[NGPS],"Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.",[614008],,,,,Nestor-guillermo progeria syndrome,TRUE,FALSE,Active +GARD:11009,Active,Orphanet,ORPHA:280586,Disorder,[Malformation syndrome],"Chondrodysplasia with joint dislocations, gPAPP type",[gPAPP deficiency],"Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.",[614078],,,,,"Chondrodysplasia with joint dislocations, GPAPP type",TRUE,FALSE,Active +GARD:11010,Active,Orphanet,ORPHA:280598,Disorder,[Disease],Hereditary sensorimotor neuropathy with hyperelastic skin,,"Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.",[608895],,,,,Hereditary sensorimotor neuropathy with hyperelastic skin,TRUE,FALSE,Active +GARD:11011,Active,Orphanet,ORPHA:641,Disorder,[Disease],Multifocal motor neuropathy,"[MMN, MMNCB, Multifocal motor neuropathy with conduction block]","Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.",,,,,,Multifocal motor neuropathy,TRUE,FALSE,Active +GARD:11012,Legacy,GARD,,,,,,,,,,,,Myelodysplastic syndrome with single lineage dysplasia,TRUE,FALSE,Active +GARD:1102,Active,Orphanet,ORPHA:1345,Disorder,[Disease],Cardiomyopathy-cataract-hip spine disease syndrome,[Krasnow-Qazi syndrome],"A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.",,,,,,Cardiomyopathy cataract hip spine disease,TRUE,FALSE,Active +GARD:1103,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy diabetes deafness,TRUE,FALSE,Active +GARD:1104,Active,Orphanet+OMIM,OMIM:115200,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1a","[Cardiomyopathy, dilated, with conduction defect 1, cardiomyopathy, familial idiopathic, cardiomyopathy, idiopathic dilated, cardiomyopathy, congestive]","Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by {26:Levitas et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Dilated Cardiomyopathy\n\nMutations in many other genes have been found to cause different forms of autosomal dominant dilated cardiomyopathy. These include CMD1C ({601493}), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene ({605906}) on 10q23; CMD1D ({601494}), caused by mutation in the TNNT2 gene ({191045}) on 1q32; CMD1E ({601154}), caused by mutation in the SCN5A gene ({600163}) on 3p22; CMD1G ({604145}), caused by mutation in the TTN gene ({188840}) on 2q31; CMD1I ({604765}), caused by mutation in the DES gene ({125660}) on 2q35; CMD1J ({605362}), caused by mutation in the EYA4 gene ({603550}) on 6q23; CMD1L ({606685}), caused by mutation in the SGCD gene ({601411}) on 5q33; CMD1M ({607482}), caused by mutation in the CSRP3 gene ({600824}) on 11p15; CMD1O ({608569}), caused by mutation in the ABCC9 gene ({601439}) on 12p12; CMD1P ({609909}), caused by mutation in the PLN gene ({172405}) on 6q22; CMD1R ({613424}), caused by mutation in the ACTC gene ({102540}) on 15q14; CMD1S ({613426}), caused by mutation in the MYH7 gene ({160760}) on 14q12; CMD1U ({613694}), caused by mutation in the PSEN1 gene ({104311}) on 14q24; CMD1V ({613697}), caused by mutation in the PSEN2 gene ({600759}) on 1q42; CMD1W ({611407}), caused by mutation in the gene encoding metavinculin (VCL; {193065}) on 10q22; CMD1X ({611615}), caused by mutation in the gene encoding fukutin (FKTN; {607440}) on 9q31; CMD1Y ({611878}), caused by mutation in the TPM1 gene ({191010}) on 15q22; CMD1Z ({611879}), caused by mutation in the TNNC1 gene ({191040}) on 3p21; CMD1AA ({612158}), caused by mutation in the ACTN2 gene ({102573}) on 1q43; CMD1BB ({612877}), caused by mutation in the DSG2 gene ({125671}) on 18q12; CMD1CC ({613122}), caused by mutation in the NEXN gene ({613121}) on 1p31; CMD1DD ({613172}), caused by mutation in the RBM20 gene ({613171}) on 10q25; CMD1EE ({613252}), caused by mutation in the MYH6 gene ({160710}) on 14q12; CMD1FF ({613286}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD1GG ({613642}), caused by mutation in the SDHA gene ({600857}) on 5p15; and CMD1HH ({613881}), caused by mutation in the BAG3 gene ({603883}) on 10q26; CMD1II ({615184}), caused by mutation in the CRYAB gene ({123590}) on 6q21; CMD1JJ ({615235}), caused by mutation in the LAMA4 gene ({600133}) on 6q21; CMD1KK ({615248}), caused by mutation in the MYPN gene ({608517}) on 10q21; CMD1LL ({615373}), caused by mutation in the PRDM16 gene ({605557}) on 1p36; CMD1MM (see {615396}), caused by mutation in the MYBPC3 gene ({600958}) on 11p11; and CMD1NN ({615916}), caused by mutation in the RAF1 gene ({164760}) on 3p25.\n\nSeveral additional loci for autosomal dominant familial dilated cardiomyopathy have been mapped: CMD1B ({600884}) on 9q13; CMD1H ({604288}) on 2q14-q22; CMD1K ({605582}) on 6q12-q16; and CMD1Q ({609915}) on 7q22.3-q31.1.\n\nAutosomal recessive CMD includes CMD2A ({611880}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD2B ({614672}), caused by mutation in the GATAD1 gene ({614518}) on 7q21; CMD2C ({618189}), caused by mutation in the PPCS gene ({609853}) on 1p34; CMD2D ({619371}), caused by mutation in the RPL3L gene ({617416}) on 16p13; CMD2E ({619492}), caused by mutation in the JPH2 gene ({605267}) on chromosome 20q13; and CMD2F ({619747}), caused by mutation in the BAG5 gene ({603885}) on chromosome 14q32.\n\nAn X-linked form of CMD (CMD3B; {302045}) is caused by mutation in the DMD gene ({300377}). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome ({302060}).\n\n<Subhead> Reclassified CMD Symbols\n\nThe symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy ({601419}).\n\nThe symbol CMD1N (see {607487}) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene ({604488.0003}); this variant has subsequently been reclassified as a variant of unknown significance.\n\nThe symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene ({188380.0001}); this variant has subsequently been reclassified as a variant of unknown significance.",[115200],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy 1A,TRUE,FALSE,Active +GARD:1107,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy due to anthracyclines,TRUE,FALSE,Active +GARD:1108,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy and deafness due to tRNA lysine gene mutation,TRUE,FALSE,Active +GARD:1109,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy hypogonadism metabolic anomalies,TRUE,FALSE,Active +GARD:111,Active,Orphanet,ORPHA:60032,Disorder,[Disease],Recurrent respiratory papillomatosis,,"Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.",,,,,,Recurrent respiratory papillomatosis,TRUE,FALSE,Active +GARD:1110,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy spherocytosis,TRUE,FALSE,Active +GARD:1113,Legacy,GARD,,,,,,,,,,,,Fatal infantile encephalomyopathy,TRUE,FALSE,Active +GARD:1117,Legacy,GARD,,,,,,,,,,,,Carnevale Hernandez Castillo syndrome,TRUE,FALSE,Active +GARD:1118,Active,Orphanet,ORPHA:293843,Disorder,[Malformation syndrome],3MC syndrome,"[Craniofacial-ulnar-renal syndrome, Malpuech-Michels-Mingarelli-Carnevale syndrome]","A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.","[248340, 257920, 265050]",,,,,3MC syndrome,TRUE,FALSE,Active +GARD:1119,Active,Orphanet,ORPHA:1359,Disorder,[Disease],Carney complex,"[Carney syndrome, Myxoma-spotty pigmentation-endocrine overactivity syndrome]","Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.","[160980, 605244]",,,,,Carney complex,TRUE,FALSE,Active +GARD:112,Active,Orphanet,ORPHA:70587,Disorder,[Disease],Infant acute respiratory distress syndrome,"[Hyaline membrane disease, Infant ARDS, Infant respiratory distress syndrome, Neonatal respiratory distress syndrome]","Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.",[267450],,,,,"Respiratory distress syndrome, infant",TRUE,FALSE,Active +GARD:1120,Active,Orphanet,ORPHA:156,Disorder,[Disease],Carnitine palmitoyl transferase 1A deficiency,"[CPT1A deficiency, Carnitine palmitoyl transferase IA deficiency, Hepatic carnitine palmitoyl transferase 1 deficiency, Hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency]","Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.",[255120],,,,,Carnitine palmitoyl transferase 1A deficiency,TRUE,FALSE,Active +GARD:1121,Active,Orphanet,ORPHA:157,Disorder,[Disease],Carnitine palmitoyltransferase II deficiency,"[CPT2, CPTII, Carnitine palmitoyltransferase deficiency type 2]","Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).","[608836, 255110, 600649]",,,,,Carnitine palmitoyltransferase 2 deficiency,TRUE,FALSE,Active +GARD:1123,Active,Orphanet,ORPHA:159,Disorder,[Disease],Carnitine-acylcarnitine translocase deficiency,[CACT deficiency],"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.",[212138],,,,,Carnitine-acylcarnitine translocase deficiency,TRUE,FALSE,Active +GARD:1125,Legacy,GARD,,,,,,,,,,,,cataract glaucoma,TRUE,FALSE,Retired +GARD:1128,Active,Orphanet,ORPHA:2767,Disorder,[Malformation syndrome],Carpotarsal osteochondromatosis,[Maroteaux-Le Merrer-Bensahel syndrome],Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.,[127820],,,,,Carpotarsal osteochondromatosis,TRUE,FALSE,Active +GARD:1129,Legacy,GARD,,,,,,,,,,,,Carpo tarsal osteolysis recessive,TRUE,FALSE,Active +GARD:113,Legacy,GARD,,,,,,,,,,,,"Retinopathy, arteriosclerotic",TRUE,FALSE,Active +GARD:1130,Active,Orphanet,ORPHA:2902,Disorder,[Disease],Idiopathic chronic eosinophilic pneumonia,[Chronic eosinophilic pneumonia],"A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.",,,,,,Chronic eosinophilic pneumonia,TRUE,FALSE,Active +GARD:1132,Legacy,GARD,,,,,,,,,,,,Cartwright Nelson Fryns syndrome,TRUE,FALSE,Active +GARD:1133,Active,Orphanet,ORPHA:85288,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stocco Dos Santos type",,"X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.",[300434],,,,,Stocco dos Santos syndrome,TRUE,FALSE,Active +GARD:1139,Active,Orphanet,ORPHA:1366,Disorder,[Disease],Autosomal recessive palmoplantar keratoderma and congenital alopecia,"[Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, Cataract-alopecia-sclerodactyly syndrome, PPK-CA, Wallis type, Palmoplantar keratoderma and congenital alopecia, Wallis type]","Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.",[212360],,,,,Autosomal recessive palmoplantar keratoderma and congenital alopecia,TRUE,FALSE,Active +GARD:114,Active,Orphanet,ORPHA:99014,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 5,"[CMT5X, CMTX5]","A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.",[311070],,,,,X-linked Charcot-Marie-Tooth disease type 5,TRUE,FALSE,Active +GARD:1140,Active,Orphanet,ORPHA:98988,Subtype of disorder,[Clinical subtype],Early-onset anterior polar cataract,[Early-onset anterior subcapsular cataract],,[601202],,,,,Early-onset anterior polar cataract,TRUE,FALSE,Active +GARD:1141,Active,Orphanet,ORPHA:1368,Disorder,[Disease],Cataract-ataxia-deafness syndrome,[Cataract-ataxia-hearing loss syndrome],"A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.",[212710],,,,,Cataract ataxia deafness,TRUE,FALSE,Active +GARD:1142,Active,Orphanet,ORPHA:1369,Disorder,[Disease],Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,[Sengers syndrome],"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","[212350, 615418]",,,,,Sengers syndrome,TRUE,FALSE,Active +GARD:1143,Legacy,GARD,,,,,,,,,,,,Cataract congenital autosomal dominant,TRUE,FALSE,Active +GARD:1144,Active,Orphanet+OMIM,OMIM:115700,Subtype of disorder,[Malformation syndrome subtype],"Cataract 4, multiple types","[Cataract 4, multiple types, with or without microcornea, cataract, punctate, progressive juvenile-onset, cataract, congenital, cerulean type, 3, cataract, nonnuclear polymorphic congenital, cataract, crystalline aculeiform]","Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.\n\nBecause multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.",[115700],[1377],[Cataract-microcornea syndrome],[1155],,Cataract congenital dominant non nuclear,TRUE,FALSE,Active +GARD:1145,Legacy,GARD,,,,,,,,,,,,Cataract and congenital ichthyosis,TRUE,FALSE,Active +GARD:1146,Legacy,GARD,,,,,,,,,,,,Cataract congenital Volkmann type,TRUE,FALSE,Active +GARD:115,Legacy,GARD,,,,,,,,,,,,Sakati syndrome,TRUE,FALSE,Retired +GARD:1150,Legacy,GARD,,,,,,,,,,,,Cataract Hutterite type,TRUE,FALSE,Active +GARD:1152,Legacy,GARD,,,,,,,,,,,,Cataract - hypertrichosis - intellectual disability,TRUE,FALSE,Retired +GARD:1154,Legacy,GARD,,,,,,,,,,,,Cataract-mental retardation-hypogonadism syndrome,TRUE,FALSE,Retired +GARD:1155,Active,Orphanet,ORPHA:1377,Disorder,[Malformation syndrome],Cataract-microcornea syndrome,,Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.,"[116200, 601547, 604219, 115700]",,,,,Cataract microcornea syndrome,TRUE,FALSE,Active +GARD:1157,Legacy,GARD,,,,,,,,,,,,Cataract microphthalmia septal defect,TRUE,FALSE,Retired +GARD:1158,Legacy,GARD,,,,,,,,,,,,Cataract skeletal anomalies,TRUE,FALSE,Active +GARD:1159,Active,Orphanet,ORPHA:98994,Subtype of disorder,[Clinical subtype],Total early-onset cataract,,,"[601547, 616509, 618415]",,,,,"Cataract, total congenital",TRUE,FALSE,Active +GARD:116,Active,Orphanet,ORPHA:79279,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 1,"[NAGA deficiency type 1, Schindler disease type 1]",A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.,[609241],,,,,Schindler disease type 1,TRUE,FALSE,Active +GARD:1160,Active,Orphanet,ORPHA:162,Disorder,[Malformation syndrome],Cataract-glaucoma syndrome,,Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.,,,,,,Cataract-glaucoma,TRUE,FALSE,Active +GARD:1163,Active,Orphanet,ORPHA:1123,Disorder,[Malformation syndrome],Caudal appendage-deafness syndrome,"[Caudal appendage-hearing loss syndrome, Lynch-Lee-Murday syndrome]","Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.",,,,,,Caudal appendage deafness,TRUE,FALSE,Active +GARD:1164,Active,Orphanet,ORPHA:1756,Disorder,[Malformation syndrome],Caudal duplication,"[Dipygus, Split notochord syndrome]",Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.,[607864],,,,,Caudal duplication,TRUE,FALSE,Active +GARD:1167,Active,Orphanet,ORPHA:2008,Disorder,[Malformation syndrome],Acrocardiofacial syndrome,"[ACFS, CCGE syndrome, Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome]","A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.",[600460],,,,,Acrocardiofacial syndrome,TRUE,FALSE,Active +GARD:117,Active,Orphanet,ORPHA:798,Disorder,[Malformation syndrome],Schinzel-Giedion syndrome,[SGS],"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.",[269150],,,,,Schinzel Giedion syndrome,TRUE,FALSE,Active +GARD:1173,Legacy,GARD,,,,,,,,,,,,CDG syndrome type 3,TRUE,FALSE,Retired +GARD:1174,Legacy,GARD,,,,,,,,,,,,CDG syndrome type 4,TRUE,FALSE,Active +GARD:1175,Legacy,GARD,,,,,,,,,,,,CDK4 linked melanoma,TRUE,FALSE,Active +GARD:1179,Legacy,GARD,,,,,,,,,,,,Cennamo Gangemi syndrome,TRUE,FALSE,Active +GARD:118,Active,Orphanet,ORPHA:3138,Disorder,[Malformation syndrome],Ulnar-mammary syndrome,"[Pallister ulnar-mammary syndrome, Schinzel syndrome, UMS]","A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.",[181450],,,,,Ulnar-mammary syndrome,TRUE,FALSE,Active +GARD:11853,Legacy,GARD,,,,,,,,,,,,Síndrome de Smith-Magenis,TRUE,TRUE,Active +GARD:11854,Legacy,GARD,,,,,,,,,,,,Cone rod dystrophy,TRUE,FALSE,Retired +GARD:11855,Active,Orphanet,ORPHA:314422,Disorder,[Disease],Ameloblastic carcinoma,,"A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.",,,,,,Ameloblastic carcinoma,TRUE,FALSE,Active +GARD:11856,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan,TRUE,TRUE,Active +GARD:11857,Legacy,GARD,,,,,,,,,,,,Cáncer gástrico difuso,TRUE,TRUE,Active +GARD:11858,Legacy,GARD,,,,,,,,,,,,Síndrome de Bardet-Biedl,TRUE,TRUE,Active +GARD:11859,Legacy,GARD,,,,,,,,,,,,Acidemia metilmalónica,TRUE,TRUE,Active +GARD:11860,Legacy,GARD,,,,,,,,,,,,Síndrome de Li-Fraumeni,TRUE,TRUE,Active +GARD:11861,Legacy,GARD,,,,,,,,,,,,Síndrome de McCune-Albright,TRUE,TRUE,Active +GARD:11862,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 1,TRUE,TRUE,Active +GARD:11863,Legacy,GARD,,,,,,,,,,,,Pioderma gangrenosum,TRUE,TRUE,Active +GARD:11864,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal,TRUE,TRUE,Active +GARD:11865,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 1,TRUE,TRUE,Active +GARD:11866,Legacy,GARD,,,,,,,,,,,,Síndrome de triple X,TRUE,TRUE,Active +GARD:11867,Legacy,GARD,,,,,,,,,,,,"Agammaglobulinemia, X-linked",TRUE,FALSE,Retired +GARD:11868,Legacy,GARD,,,,,,,,,,,,Hipoplasia cerebelar,TRUE,TRUE,Active +GARD:11869,Legacy,GARD,,,,,,,,,,,,Agenesia del cuerpo calloso,TRUE,TRUE,Active +GARD:1187,Legacy,GARD,,,,,,,,,,,,Cerebellar agenesis,TRUE,FALSE,Active +GARD:11870,Legacy,GARD,,,,,,,,,,,,Síndrome de Desbuquois,TRUE,TRUE,Active +GARD:11871,Legacy,GARD,,,,,,,,,,,,"Dyserythropoietic anemia, congenital type 2",TRUE,FALSE,Retired +GARD:11872,Legacy,GARD,,,,,,,,,,,,"Polysyndactyly, microcephaly, ptosis",TRUE,FALSE,Retired +GARD:11873,Legacy,GARD,,,,,,,,,,,,HRHS,FALSE,TRUE,Retired +GARD:11874,Legacy,GARD,,,,,,,,,,,,"Myositis, inclusion body",TRUE,FALSE,Retired +GARD:11875,Legacy,GARD,,,,,,,,,,,,Pie zambo congénito,TRUE,TRUE,Draft +GARD:11876,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth,TRUE,TRUE,Active +GARD:11877,Legacy,GARD,,,,,,,,,,,,Enfermedad de Fabry,TRUE,TRUE,Active +GARD:11878,Legacy,GARD,,,,,,,,,,,,Miohiperplasia hemifacial,TRUE,TRUE,Active +GARD:11879,Legacy,GARD,,,,,,,,,,,,Síndrome X frágil,TRUE,TRUE,Active +GARD:1188,Active,Orphanet,ORPHA:1171,Disorder,[Disease],Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,"[CAPOS syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome]","A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.",[601338],,,,,"Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",TRUE,FALSE,Active +GARD:11880,Legacy,GARD,,,,,,,,,,,,Linfohistiocitosis hemofagocítica,TRUE,TRUE,Active +GARD:11881,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 3,TRUE,TRUE,Active +GARD:11882,Legacy,GARD,,,,,,,,,,,,Displasia campomélica,TRUE,TRUE,Active +GARD:11883,Legacy,GARD,,,,,,,,,,,,Síndrome de Down,FALSE,TRUE,Active +GARD:11884,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 2,TRUE,TRUE,Active +GARD:11885,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 4,TRUE,TRUE,Active +GARD:11886,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 5,TRUE,TRUE,Active +GARD:11887,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 6,TRUE,TRUE,Active +GARD:11888,Legacy,GARD,,,,,,,,,,,,Polimicrogiria frontal bilateral,TRUE,TRUE,Draft +GARD:11889,Legacy,GARD,,,,,,,,,,,,Cáncer gástrico difuso hereditario,TRUE,TRUE,Active +GARD:1189,Active,Orphanet,ORPHA:1174,Disorder,[Malformation syndrome],Cerebellar ataxia-ectodermal dysplasia syndrome,,A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.,[212835],,,,,Cerebellar ataxia ectodermal dysplasia,TRUE,FALSE,Active +GARD:11890,Active,Orphanet,ORPHA:79189,Group of disorders,[Clinical group],Peroxisome biogenesis disorder,"[PBD-ZSD, Peroxisome biogenesis disorder spectrum, Peroxisome biogenesis disorder-Zellweger spectrum disorder]","Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).",,,,,,Peroxisome biogenesis disorder-Zellweger syndrome spectrum,TRUE,FALSE,Active +GARD:11891,Legacy,GARD,,,,,,,,,,,,Propriospinal myoclonus,TRUE,FALSE,Active +GARD:11892,Active,Orphanet,ORPHA:53721,Disorder,[Malformation syndrome],Spinal arteriovenous metameric syndrome,"[Cobb syndrome, Cutaneomeningospinal angiomatosis, SAMS 1-31]","Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.",,,,,,Cobb syndrome,TRUE,FALSE,Active +GARD:11893,Active,Orphanet,ORPHA:2457,Disorder,[Malformation syndrome],Mandibuloacral dysplasia,[MAD],"Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.","[248370, 608612]",,,,,Mandibuloacral dysplasia,TRUE,FALSE,Active +GARD:11894,Active,Orphanet,ORPHA:60025,Disorder,[Disease],Pulmonary alveolar microlithiasis,,"A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.",[265100],,,,,Pulmonary alveolar microlithiasis,TRUE,FALSE,Active +GARD:11895,Active,Orphanet,ORPHA:137672,Disorder,[Disease],Pellucid marginal degeneration,,"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.",,,,,,Pellucid marginal degeneration,TRUE,FALSE,Active +GARD:11896,Legacy,GARD,,,,,,,,,,,,PDGFRB-associated chronic eosinophilic leukemia,TRUE,FALSE,Active +GARD:11897,Active,Orphanet,ORPHA:1871,Disorder,[Disease],Progressive cone dystrophy,[Cone dystrophy],"A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.","[180020, 300085, 304030, 613093, 602093]",,,,,Cone dystrophy,TRUE,FALSE,Active +GARD:11898,Active,Orphanet,ORPHA:254379,Disorder,[Disease],Linear lichen planus,"[Blaschkoid LP, Blaschkoid lichen planus, Linear LP]","Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.",,,,,,Linear lichen planus,TRUE,FALSE,Active +GARD:11899,Active,Orphanet,ORPHA:385,Group of disorders,[Clinical group],Neurodegeneration with brain iron accumulation,[NBIA],"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.",,,,,,Neurodegeneration with brain iron accumulation,TRUE,FALSE,Active +GARD:11900,Legacy,GARD,,,,,,,,,,,,Brittle diabetes,TRUE,FALSE,Active +GARD:11901,Active,Orphanet,ORPHA:300605,Disorder,[Disease],Juvenile amyotrophic lateral sclerosis,"[JALS, Juvenile Charcot disease, Juvenile Lou Gehrig disease]","Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.","[614373, 205100, 602099]",,,,,Juvenile amyotrophic lateral sclerosis,TRUE,FALSE,Active +GARD:11902,Active,Orphanet,ORPHA:590,Disorder,[Disease],Congenital myasthenic syndrome,[CMS],Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.,"[254190, 616313, 616720, 608930, 605809, 608931, 616227, 617143, 616228, 616330, 254210, 617239, 616324, 614198, 616325, 616304, 616224, 614750, 616326, 603034, 610542, 616321, 616322, 601462, 616314, 616323, 616040, 615120, 254300]",,,,,Congenital myasthenic syndromes,TRUE,FALSE,Active +GARD:11903,Active,Orphanet,ORPHA:70593,Disorder,[Disease],Immunodeficiency due to selective anti-polysaccharide antibody deficiency,[Specific anti-polysaccharide antibody deficiency],Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).,,,,,,Specific antibody deficiency,TRUE,FALSE,Active +GARD:11904,Active,Orphanet,ORPHA:137667,Disorder,[Malformation syndrome],Capillary malformation-arteriovenous malformation,[CM-AVM],This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.,[608354],,,,,Capillary malformation-arteriovenous malformation syndrome,TRUE,FALSE,Active +GARD:11905,Legacy,GARD,,,,,,,,,,,,Capillary malformation arteriovenus malformation,TRUE,FALSE,Retired +GARD:11906,Active,Orphanet,ORPHA:171886,Disorder,[Disease],Cylindrical spirals myopathy,,"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.",,,,,,Cylindrical spirals myopathy,TRUE,FALSE,Active +GARD:11907,Active,Orphanet,ORPHA:86843,Disorder,[Disease],Acute panmyelosis with myelofibrosis,"[Acute myelodysplasia with myelofibrosis, Acute myelofibrosis, Acute myelosclerosis]","A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.",,,,,,Acute panmyelosis with myelofibrosis,TRUE,FALSE,Active +GARD:11908,Active,Orphanet,ORPHA:166291,Disorder,[Disease],Dirofilariasis,,"Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.",,,,,,Dirofilariasis,TRUE,FALSE,Active +GARD:11909,Legacy,GARD,,,,,,,,,,,,Engraftment syndrome,TRUE,FALSE,Active +GARD:1191,Active,Orphanet,ORPHA:254886,Disorder,[Disease],Autosomal recessive progressive external ophthalmoplegia,[arPEO],"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.","[258450, 617069]",,,,,"Progressive external ophthalmoplegia, autosomal recessive 1 ",TRUE,FALSE,Active +GARD:11910,Active,Orphanet,ORPHA:79474,Disorder,[Disease],Atypical Werner syndrome,[Atypical progeroid syndrome],"An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.",,,,,,Atypical Werner syndrome,TRUE,FALSE,Active +GARD:11911,Active,Orphanet,ORPHA:94064,Disorder,[Malformation syndrome],Deafness-infertility syndrome,"[DIS, Hearing loss-infertility syndrome]",Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.,[611102],,,,,Deafness-infertility syndrome,TRUE,FALSE,Active +GARD:11912,Legacy,GARD,,,,,,,,,,,,Gliomatosis peritonei,TRUE,FALSE,Active +GARD:11913,Legacy,GARD,,,,,,,,,,,,Brachydactyly,FALSE,FALSE,Active +GARD:11914,Active,Orphanet,ORPHA:275777,Subtype of disorder,[Etiological subtype],Heritable pulmonary arterial hypertension,"[FPAH, Familial pulmonary arterial hypertension, HPAH, Hereditary pulmonary arterial hypertension]","Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","[615342, 178600]",,,,,Familial pulmonary arterial hypertension,TRUE,FALSE,Retired +GARD:11915,Active,Orphanet,ORPHA:171881,Disorder,[Disease],Cap myopathy,[Cap disease],"Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.","[609284, 609285]",,,,,Cap myopathy,TRUE,FALSE,Active +GARD:11916,Legacy,GARD,,,,,,,,,,,,Carbamyl Phosphate Synthetase,FALSE,FALSE,Active +GARD:11917,Legacy,GARD,,,,,,,,,,,,Autoimmune autonomic ganglionopathy,TRUE,FALSE,Active +GARD:11918,Active,Orphanet,ORPHA:98784,Disorder,[Disease],Autosomal dominant nocturnal frontal lobe epilepsy,"[ADNFLE, Autosomal dominant sleep-related hypermotor epilepsy]",A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.,"[605375, 615005, 600513, 610353, 603204]",,,,,Autosomal dominant nocturnal frontal lobe epilepsy,TRUE,FALSE,Active +GARD:11919,Legacy,GARD,,,,,,,,,,,,Numeric sex chromosome variations,FALSE,FALSE,Active +GARD:11920,Legacy,GARD,,,,,,,,,,,,"47, XXY",FALSE,FALSE,Active +GARD:11921,Legacy,GARD,,,,,,,,,,,,Pediatric hypertension,FALSE,FALSE,Retired +GARD:11922,Legacy,GARD,,,,,,,,,,,,Koro,TRUE,FALSE,Active +GARD:11923,Active,Orphanet,ORPHA:284400,Disorder,[Disease],Small cell carcinoma of the bladder,"[Poorly differentiated neuroendocrine carcinoma of the bladder, SCCB, Small cell bladder cancer, Small cell bladder carcinoma, Small cell carcinoma of the urinary bladder]","Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.",,,,,,Small cell carcinoma of the bladder,TRUE,FALSE,Active +GARD:11924,Legacy,GARD,,,,,,,,,,,,Carcinoma showing thymus-like differentiation,TRUE,FALSE,Active +GARD:11925,Active,Orphanet,ORPHA:596,Disorder,[Disease],X-linked centronuclear myopathy,"[X-linked myotubular myopathy, XLCNM, XLMTM]","A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.",[310400],,,,,X-linked myotubular myopathy,TRUE,FALSE,Active +GARD:11926,Legacy,GARD,,,,,,,,,,,,Restless legs syndrome,FALSE,FALSE,Active +GARD:11927,Active,Orphanet,ORPHA:456318,Disorder,[Disease],Hereditary sensory neuropathy-deafness-dementia syndrome,"[HSAN1E, HSN1E, Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome]","A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.",[614116],,,,,Hereditary sensory and autonomic neuropathy type 1E,TRUE,FALSE,Active +GARD:11928,Legacy,GARD,,,,,,,,,,,,Juvenile-onset small-fiber polyneuropathy,TRUE,FALSE,Active +GARD:11929,Legacy,GARD,,,,,,,,,,,,Osteoarthritis,FALSE,FALSE,Active +GARD:1193,Legacy,GARD,,,,,,,,,,,,Subacute cerebellar degeneration,TRUE,FALSE,Active +GARD:11930,Legacy,GARD,,,,,,,,,,,,Depression,FALSE,FALSE,Active +GARD:11931,Legacy,GARD,,,,,,,,,,,,Epilepsy,FALSE,FALSE,Draft +GARD:11932,Legacy,GARD,,,,,,,,,,,,Osteoporosis,FALSE,FALSE,Active +GARD:11933,Legacy,GARD,,,,,,,,,,,,Schizophrenia,FALSE,FALSE,Active +GARD:11934,Legacy,GARD,,,,,,,,,,,,Diabetes insipidus,FALSE,FALSE,Active +GARD:11935,Legacy,GARD,,,,,,,,,,,,Rheumatoid arthritis,FALSE,FALSE,Draft +GARD:11936,Legacy,GARD,,,,,,,,,,,,Hepatitis C,FALSE,FALSE,Active +GARD:11937,Legacy,GARD,,,,,,,,,,,,Emphysema,FALSE,FALSE,Active +GARD:11938,Legacy,GARD,,,,,,,,,,,,Goiter,FALSE,FALSE,Active +GARD:11939,Legacy,GARD,,,,,,,,,,,,Enlarged prostate,FALSE,FALSE,Active +GARD:1194,Legacy,GARD,,,,,,,,,,,,Cerebellar hypoplasia,TRUE,FALSE,Active +GARD:11940,Legacy,GARD,,,,,,,,,,,,Heart failure,FALSE,FALSE,Active +GARD:11941,Legacy,GARD,,,,,,,,,,,,Stroke,FALSE,FALSE,Active +GARD:11942,Legacy,GARD,,,,,,,,,,,,Diabetes mellitus type 2,FALSE,FALSE,Active +GARD:11943,Legacy,GARD,,,,,,,,,,,,Simultanagnosia,TRUE,FALSE,Active +GARD:11944,Legacy,GARD,,,,,,,,,,,,Coronary artery disease,FALSE,FALSE,Active +GARD:11945,Legacy,GARD,,,,,,,,,,,,Diabetes,FALSE,FALSE,Active +GARD:11946,Legacy,GARD,,,,,,,,,,,,Dementia,FALSE,FALSE,Active +GARD:11947,Legacy,GARD,,,,,,,,,,,,Heart disease,FALSE,FALSE,Active +GARD:11948,Legacy,GARD,,,,,,,,,,,,Chronic obstructive pulmonary disorder,FALSE,FALSE,Active +GARD:11949,Legacy,GARD,,,,,,,,,,,,Dystonia,FALSE,FALSE,Active +GARD:1195,Active,Orphanet,ORPHA:85186,Disorder,[Malformation syndrome],Endosteal sclerosis-cerebellar hypoplasia syndrome,,"Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.",,,,,,Cerebellar hypoplasia with endosteal sclerosis,TRUE,FALSE,Active +GARD:11950,Legacy,GARD,,,,,,,,,,,,Glaucoma,FALSE,FALSE,Active +GARD:11951,Active,Orphanet,ORPHA:780,Disorder,[Disease],Rhabdomyosarcoma,,A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.,"[268220, 268210]",,,,,rhabdomyosarcoma,FALSE,FALSE,Active +GARD:11952,Legacy,GARD,,,,,,,,,,,,Thymic carcinoma,FALSE,FALSE,Active +GARD:11953,Active,Orphanet,ORPHA:547,Group of disorders,[Category],Non-Hodgkin lymphoma,[NHL],A heterogeneous group of malignant tumors of the lymphoid system.,[605027],,,,,Non-Hodgkin's lymphoma,FALSE,FALSE,Active +GARD:11954,Legacy,GARD,,,,,,,,,,,,Diabetic retinopathy,FALSE,FALSE,Draft +GARD:11955,Legacy,GARD,,,,,,,,,,,,Lymphoma,FALSE,FALSE,Active +GARD:11956,Legacy,GARD,,,,,,,,,,,,Mitochondrial myopathy,FALSE,FALSE,Active +GARD:11957,Legacy,GARD,,,,,,,,,,,,HIV/AIDS,FALSE,FALSE,Active +GARD:11958,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy,FALSE,FALSE,Active +GARD:11959,Legacy,GARD,,,,,,,,,,,,Lipoma,FALSE,FALSE,Active +GARD:1196,Active,Orphanet,ORPHA:2246,Disorder,[Malformation syndrome],Cerebellar hypoplasia-tapetoretinal degeneration syndrome,,"Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.",[213000],,,,,Cerebellar hypoplasia tapetoretinal degeneration,TRUE,FALSE,Active +GARD:11960,Legacy,GARD,,,,,,,,,,,,Cancer,FALSE,FALSE,Active +GARD:11961,Legacy,GARD,,,,,,,,,,,,Angiosarcoma,FALSE,FALSE,Active +GARD:11962,Active,Orphanet,ORPHA:98306,Group of disorders,[Clinical group],Familial partial lipodystrophy,[FPLD],"A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.",,,,,,Familial partial lipodystrophy,TRUE,FALSE,Active +GARD:11963,Legacy,GARD,,,,,,,,,,,,Intellectual disability,FALSE,FALSE,Active +GARD:11964,Legacy,GARD,,,,,,,,,,,,Kidney failure,FALSE,FALSE,Active +GARD:11965,Legacy,GARD,,,,,,,,,,,,Prolymphocytic leukemia,FALSE,FALSE,Active +GARD:11966,Legacy,GARD,,,,,,,,,,,,"Small cell lung cancer, adult",FALSE,FALSE,Retired +GARD:11967,Legacy,GARD,,,,,,,,,,,,Pitt-Hopkins-like syndrome,TRUE,FALSE,Active +GARD:11968,Legacy,GARD,,,,,,,,,,,,Lactobezoar,TRUE,FALSE,Active +GARD:11969,Legacy,GARD,,,,,,,,,,,,Clostridium septicum infection,TRUE,FALSE,Active +GARD:11970,Legacy,GARD,,,,,,,,,,,,Clostridium perfringens infection,TRUE,FALSE,Active +GARD:11971,Active,Orphanet,ORPHA:71273,Disorder,[Disease],Renal nutcracker syndrome,"[Left renal vein entrapment syndrome, RNS]","A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.",,,,,,Renal nutcracker syndrome,TRUE,FALSE,Active +GARD:11972,Active,Orphanet,ORPHA:98672,Group of disorders,[Clinical group],Autosomal dominant optic atrophy,"[ADOA, DOA]",,,,,,,Dominant optic atrophy,TRUE,FALSE,Active +GARD:11973,Active,Orphanet,ORPHA:86886,Disorder,[Disease],Angioimmunoblastic T-cell lymphoma,"[AILT, Immunoblastic lymphadenopathy, Lymphogranulomatosis X, T-cell lymphoma, AILD type]","A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis.",,,,,,Angioimmunoblastic T-cell lymphoma,TRUE,FALSE,Active +GARD:11974,Active,Orphanet,ORPHA:65286,Disorder,[Malformation syndrome],3q29 microdeletion syndrome,"[3q subtelomere deletion syndrome, 3qter deletion, Del(3)(q29), Monosomy 3q29, Monosomy 3qter]",A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.,[609425],,,,,3q29 microdeletion syndrome,TRUE,FALSE,Active +GARD:11975,Legacy,GARD,,,,,,,,,,,,15q13.3 microduplication syndrome,TRUE,FALSE,Active +GARD:11976,Legacy,GARD,,,,,,,,,,,,Cystic adventitial disease,TRUE,FALSE,Active +GARD:11977,Legacy,GARD,,,,,,,,,,,,Prosthetic joint infection,TRUE,FALSE,Active +GARD:11978,Legacy,GARD,,,,,,,,,,,,Sclerosing mucoepidermoid carcinoma with eosinophilia,TRUE,FALSE,Active +GARD:11979,Active,Orphanet,ORPHA:622014,Group of disorders,[Clinical group],Autoimmune encephalitis,"[AE, AIE]",,,,,,,Autoimmune encephalitis,TRUE,FALSE,Active +GARD:1198,Legacy,GARD,,,,,,,,,,,,Cerebello-olivary atrophy,TRUE,FALSE,Active +GARD:11980,Active,Orphanet,ORPHA:85163,Disorder,[Malformation syndrome],Hypomyelination-congenital cataract syndrome,,"Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.",[610532],,,,,Hypomyelination and congenital cataract,TRUE,FALSE,Active +GARD:11981,Legacy,GARD,,,,,,,,,,,,Endometrial Cancer,FALSE,FALSE,Internal +GARD:11982,Active,Orphanet,ORPHA:54370,Disorder,[Disease],Primary membranoproliferative glomerulonephritis,"[Mesangiocapillary glomerulonephritis, Primary MPGN]","A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.","[615008, 305800, 609814, 614809]",,,,,Membranoproliferative glomerulonephritis,TRUE,FALSE,Active +GARD:11983,Active,Orphanet,ORPHA:397596,Disorder,[Disease],Activated PI3K-delta syndrome,"[APDS, Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation]","A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.","[615513, 616005]",,,,,PASLI disease,TRUE,FALSE,Active +GARD:11984,Active,Orphanet,ORPHA:29072,Disorder,[Disease],Hereditary pheochromocytoma-paraganglioma,[Familial pheochromocytoma-paraganglioma],"A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.","[618464, 618475, 605373, 168000, 171300, 614165, 115310, 601650]",,,,,Hereditary paraganglioma-pheochromocytoma,TRUE,FALSE,Active +GARD:11985,Active,Orphanet,ORPHA:99329,Disorder,[Malformation syndrome],"48,XYYY syndrome",,"A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.",,,,,,"48,XYYY",TRUE,FALSE,Active +GARD:11986,Legacy,GARD,,,,,,,,,,,,Síndrome de Wolfram,TRUE,TRUE,Active +GARD:11987,Legacy,GARD,,,,,,,,,,,,Enfermedad de Rosai-Dorfman,TRUE,TRUE,Active +GARD:11988,Legacy,GARD,,,,,,,,,,,,Morfea,TRUE,TRUE,Active +GARD:11989,Legacy,GARD,,,,,,,,,,,,Pythiosis,TRUE,FALSE,Active +GARD:1199,Active,Orphanet,ORPHA:1170,Disorder,[Disease],Autosomal recessive cerebelloparenchymal disorder type 3,"[Autosomal recessive spinocerebellar ataxia type 2, SCAR2]","The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.",[213200],,,,,Cerebelloparenchymal disorder 3,TRUE,FALSE,Active +GARD:11990,Legacy,GARD,,,,,,,,,,,,Síndrome de Opitz G/BBB,TRUE,TRUE,Active +GARD:11991,Legacy,GARD,,,,,,,,,,,,Síndrome de Parkes Weber,TRUE,TRUE,Active +GARD:11992,Active,Orphanet,ORPHA:306431,Disorder,[Disease],Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,"[Acquired adult-onset immunodeficiency, Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies]","A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.",,,,,,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,TRUE,FALSE,Active +GARD:11993,Legacy,GARD,,,,,,,,,,,,Enfermedad de Huntington,TRUE,TRUE,Active +GARD:11994,Legacy,GARD,,,,,,,,,,,,"Trastorno testicular del desarrollo sexual 46,XX",TRUE,TRUE,Active +GARD:11995,Legacy,GARD,,,,,,,,,,,,Déficit de ornitina transcarbamilasa,TRUE,TRUE,Active +GARD:11996,Legacy,GARD,,,,,,,,,,,,Agenesia cerebelosa,TRUE,TRUE,Draft +GARD:11997,Legacy,GARD,,,,,,,,,,,,Distrofia de conos ,FALSE,TRUE,Active +GARD:11998,Legacy,GARD,,,,,,,,,,,,Celiac disease,FALSE,FALSE,Active +GARD:12,Active,Orphanet,ORPHA:31740,Group of disorders,[Clinical group],Hypersensitivity pneumonitis,[Extrinsic allergic alveolitis],Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.,,,,,,Hypersensitivity pneumonitis,TRUE,FALSE,Active +GARD:120,Legacy,GARD,,,,,,,,,,,,Sennetsu Fever,TRUE,FALSE,Active +GARD:1200,Active,Orphanet,ORPHA:1397,Disorder,[Malformation syndrome],Hydrocephaly-cerebellar agenesis syndrome,,"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.",[307010],,,,,Cerebellum agenesis hydrocephaly,TRUE,FALSE,Active +GARD:12000,Legacy,GARD,,,,,,,,,,,,Epidermólisis ampollosa,TRUE,TRUE,Active +GARD:12001,Legacy,GARD,,,,,,,,,,,,Acondroplasia,TRUE,TRUE,Active +GARD:12002,Legacy,GARD,,,,,,,,,,,,Amelogénesis imperfecta,TRUE,TRUE,Active +GARD:12003,Legacy,GARD,,,,,,,,,,,,Mesangioproliferative glomerulopathy,TRUE,FALSE,Active +GARD:12004,Legacy,GARD,,,,,,,,,,,,Síndrome de Prader-Willi,TRUE,TRUE,Active +GARD:12005,Legacy,GARD,,,,,,,,,,,,Hiperekplexia hereditaria,TRUE,TRUE,Active +GARD:12006,Legacy,GARD,,,,,,,,,,,,Quiste de Tarlov,TRUE,TRUE,Active +GARD:12007,Legacy,GARD,,,,,,,,,,,,Trombocitemia esencial,TRUE,TRUE,Active +GARD:12008,Active,Orphanet,ORPHA:141127,Disorder,[Morphological anomaly],Congenital tracheal stenosis,,"A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.",[603569],,,,,Congenital tracheal stenosis,TRUE,FALSE,Active +GARD:12009,Legacy,GARD,,,,,,,,,,,,Enfermedad de Still del adulto,TRUE,TRUE,Active +GARD:1201,Legacy,GARD,,,,,,,,,,,,Cerebral calcification cerebellar hypoplasia,TRUE,FALSE,Active +GARD:12010,Active,Orphanet,ORPHA:30391,Disorder,[Morphological anomaly],Isolated biliary atresia,"[Isolated atresia of bile ducts, Non-syndromic biliary atresia]","A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.",[210500],,,,,Biliary atresia,TRUE,FALSE,Active +GARD:12011,Active,Orphanet,ORPHA:93114,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,"[CMTDIE, Charcot-Marie-Tooth disease-nephropathy syndrome]","A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).",[614455],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,TRUE,FALSE,Active +GARD:12012,Legacy,GARD,,,,,,,,,,,,Pseudobulbar affect,FALSE,FALSE,Active +GARD:12013,Legacy,GARD,,,,,,,,,,,,Demoplastic fibroma,FALSE,FALSE,Active +GARD:12014,Legacy,GARD,,,,,,,,,,,,Embryonal tumor,FALSE,FALSE,Active +GARD:12015,Active,Orphanet,ORPHA:247762,Disorder,[Disease],Lipoblastoma,,"A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.",,,,,,Lipoblastoma,TRUE,FALSE,Active +GARD:12016,Active,Orphanet,ORPHA:252050,Disorder,[Disease],Primary melanoma of the central nervous system,"[Malignant melanoma of meninges, Primary melanoma of the CNS]","Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.",,,,,,Primary melanoma of the central nervous system,TRUE,FALSE,Active +GARD:12017,Legacy,GARD,,,,,,,,,,,,Pineal germ cell tumor,TRUE,FALSE,Active +GARD:12018,Legacy,GARD,,,,,,,,,,,,Sarcoma,FALSE,FALSE,Active +GARD:12019,Legacy,GARD,,,,,,,,,,,,Suprasellar germ cell tumor,FALSE,FALSE,Active +GARD:1202,Legacy,GARD,,,,,,,,,,,,Cerebral calcifications opalescent teeth phosphaturia,TRUE,FALSE,Active +GARD:12020,Legacy,GARD,,,,,,,,,,,,Pyelonephritis,FALSE,FALSE,Active +GARD:12021,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous pyelonephritis,FALSE,FALSE,Active +GARD:12022,Legacy,GARD,,,,,,,,,,,,Hamartoma,FALSE,FALSE,Active +GARD:12023,Legacy,GARD,,,,,,,,,,,,Cardiac fibroma,FALSE,FALSE,Active +GARD:12024,Legacy,GARD,,,,,,,,,,,,Angiomyolipoma,FALSE,FALSE,Active +GARD:12025,Legacy,GARD,,,,,,,,,,,,Malignant melanoma of soft tissues,FALSE,FALSE,Active +GARD:12026,Legacy,GARD,,,,,,,,,,,,Giant cell epulis,FALSE,FALSE,Active +GARD:12027,Active,Orphanet,ORPHA:146,Disorder,[Disease],Differentiated thyroid carcinoma,"[Papillary or follicular thyroid carcinoma, Well-differentiated thyroid carcinoma]","A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).","[188550, 607464]",,,,,Papillary thyroid carcinoma,TRUE,FALSE,Active +GARD:12028,Legacy,GARD,,,,,,,,,,,,Parathyroid adenoma,FALSE,FALSE,Active +GARD:12029,Legacy,GARD,,,,,,,,,,,,Mixed pattern hyperplasia,FALSE,FALSE,Active +GARD:12030,Legacy,GARD,,,,,,,,,,,,Mixed glioneuronal tumour,FALSE,FALSE,Active +GARD:12031,Legacy,GARD,,,,,,,,,,,,Solid pseudopapillary tumor of the pancreas,FALSE,FALSE,Active +GARD:12032,Active,Orphanet,ORPHA:95854,Disorder,[Morphological anomaly],Levocardia,"[Isolated levocardia, Levocardia with situs inversus]","A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated.",,,,,,Isolated levocardia,TRUE,FALSE,Active +GARD:12033,Active,Orphanet,ORPHA:607,Group of disorders,[Clinical group],Nemaline myopathy,"[NEM, NM, Nemaline rod myopathy]","Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.",,,,,,Nemaline myopathy,TRUE,FALSE,Active +GARD:12034,Legacy,GARD,,,,,,,,,,,,Autoimmune retinopathy,TRUE,FALSE,Active +GARD:12035,Legacy,GARD,,,,,,,,,,,,Airway-centered interstitial fibrosis,TRUE,FALSE,Active +GARD:12036,Active,Orphanet,ORPHA:85162,Disorder,[Disease],Facial onset sensory and motor neuronopathy,[FOSMN syndrome],"Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.",,,,,,Facial onset sensory and motor neuronopathy,TRUE,FALSE,Active +GARD:12037,Legacy,GARD,,,,,,,,,,,,Undiagnosed condition,FALSE,FALSE,Internal +GARD:12038,Legacy,GARD,,,,,,,,,,,,No condition mentioned,FALSE,FALSE,Internal +GARD:12039,Legacy,GARD,,,,,,,,,,,,Unknown condition,FALSE,FALSE,Internal +GARD:1204,Legacy,GARD,,,,,,,,,,,,Cerebral cavernous malformation,FALSE,FALSE,Active +GARD:12040,Legacy,GARD,,,,,,,,,,,,Rare diseases,FALSE,FALSE,Internal +GARD:12041,Legacy,GARD,,,,,,,,,,,,Melanoma-associated retinopathy,TRUE,FALSE,Active +GARD:12042,Legacy,GARD,,,,,,,,,,,,Posthypoxic myoclonus,FALSE,FALSE,Retired +GARD:12043,Legacy,GARD,,,,,,,,,,,,Macular fold,FALSE,FALSE,Retired +GARD:12044,Legacy,GARD,,,,,,,,,,,,Cistitis intersticial,TRUE,TRUE,Draft +GARD:12045,Legacy,GARD,,,,,,,,,,,,Síndrome de Axenfeld-Rieger,TRUE,TRUE,Active +GARD:12046,Legacy,GARD,,,,,,,,,,,,Clinical findings,FALSE,FALSE,Internal +GARD:12047,Legacy,GARD,,,,,,,,,,,,Extracranial arteriovenous malformation,TRUE,FALSE,Active +GARD:12048,Active,Orphanet,ORPHA:97567,Disorder,[Disease],Immunotactoid glomerulopathy,[Immunotactoid glomerulonephritis],"Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.",,,,,,Immunotactoid glomerulopathy,TRUE,FALSE,Active +GARD:12050,Legacy,GARD,,,,,,,,,,,,Congenital ichthyosis of skin,FALSE,FALSE,Active +GARD:12051,Legacy,GARD,,,,,,,,,,,,Cortical dysplasia,FALSE,FALSE,Active +GARD:12052,Legacy,GARD,,,,,,,,,,,,Demyelinating disease of central nervous system,FALSE,FALSE,Active +GARD:12053,Legacy,GARD,,,,,,,,,,,,Lipomeningocele,FALSE,FALSE,Active +GARD:12054,Legacy,GARD,,,,,,,,,,,,Lipodistrofia congénita de Berardinelli-Seip,TRUE,TRUE,Active +GARD:12055,Legacy,GARD,,,,,,,,,,,,Prostate cancer,FALSE,FALSE,Draft +GARD:12056,Legacy,GARD,,,,,,,,,,,,Síndrome de Potocki-Shaffer,TRUE,TRUE,Active +GARD:12057,Legacy,GARD,,,,,,,,,,,,Osteonecrosis,FALSE,FALSE,Active +GARD:12058,Legacy,GARD,,,,,,,,,,,,Misophonia,TRUE,FALSE,Active +GARD:12059,Active,Orphanet,ORPHA:370933,Disorder,[Disease],GM3 synthase deficiency,[ST3GAL5-CDG],"GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.",[609056],,,,,GM3 synthase deficiency,TRUE,FALSE,Active +GARD:1206,Legacy,GARD,,,,,,,,,,,,Cerebral gigantism jaw cysts,TRUE,FALSE,Active +GARD:12060,Legacy,GARD,,,,,,,,,,,,Cerebellar ataxia,FALSE,FALSE,Active +GARD:12062,Active,Orphanet,ORPHA:420556,Disorder,[Disease],Visual snow syndrome,,"Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.",,,,,,Visual snow syndrome,TRUE,FALSE,Active +GARD:12063,Legacy,GARD,,,,,,,,,,,,Autoimmune gastrointestinal dysmotility,TRUE,FALSE,Active +GARD:12064,Legacy,GARD,,,,,,,,,,,,Síndrome de KBG,TRUE,TRUE,Active +GARD:12065,Legacy,GARD,,,,,,,,,,,,Bartonella infection,FALSE,FALSE,Draft +GARD:12066,Legacy,GARD,,,,,,,,,,,,Ichthyosis,FALSE,FALSE,Retired +GARD:12067,Legacy,GARD,,,,,,,,,,,,Chromosome translocation,FALSE,FALSE,Internal +GARD:12068,Legacy,GARD,,,,,,,,,,,,Sundown syndrome,FALSE,FALSE,Retired +GARD:12069,Legacy,GARD,,,,,,,,,,,,Fibromyalgia,FALSE,FALSE,Active +GARD:12070,Legacy,GARD,,,,,,,,,,,,Chromosome 8 deletion,FALSE,FALSE,Active +GARD:12071,Legacy,GARD,,,,,,,,,,,,Chronic kidney disease metabolic bone disease,FALSE,FALSE,Active +GARD:12072,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hashimoto,FALSE,TRUE,Active +GARD:12073,Legacy,GARD,,,,,,,,,,,,Lyme disease,FALSE,FALSE,Active +GARD:12074,Active,Orphanet,ORPHA:141132,Disorder,[Malformation syndrome],Oculo-auriculo-vertebral spectrum,"[OAV spectrum, Oculoauriculovertebral spectrum]","A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.",,,,,,Oculo-auriculo-vertebral spectrum,TRUE,FALSE,Active +GARD:12075,Legacy,GARD,,,,,,,,,,,,Nevus mucinosis,TRUE,FALSE,Active +GARD:12076,Active,Orphanet,ORPHA:96121,Disorder,[Malformation syndrome],7q11.23 microduplication syndrome,"[Dup(7)(q11.23), Trisomy 7q11.23]","7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.",[609757],,,,,7q11.23 duplication syndrome,TRUE,FALSE,Active +GARD:12077,Legacy,GARD,,,,,,,,,,,,5q14.3 deletion syndrome,TRUE,FALSE,Retired +GARD:12078,Legacy,GARD,,,,,,,,,,,,Hypoganglionosis,TRUE,FALSE,Active +GARD:12079,Legacy,GARD,,,,,,,,,,,,Tonic-clonic seizures,FALSE,FALSE,Draft +GARD:12080,Legacy,GARD,,,,,,,,,,,,Erb's palsy,FALSE,FALSE,Draft +GARD:12082,Legacy,GARD,,,,,,,,,,,,Phantosmia,FALSE,FALSE,Draft +GARD:12083,Legacy,GARD,,,,,,,,,,,,Adnexal carcinoma of skin,FALSE,FALSE,Draft +GARD:12084,Legacy,GARD,,,,,,,,,,,,Ocular histoplasmosis,FALSE,FALSE,Draft +GARD:12085,Active,Orphanet,ORPHA:2542,Group of disorders,[Clinical group],Isolated microphthalmia-anophthalmia-coloboma,[Isolated anophthalmia-microphthalmia syndrome],"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","[251600, 613517, 611038, 613094, 613704, 615113, 156850, 610093]",,,,,Microphthalmia,TRUE,FALSE,Active +GARD:12086,Legacy,GARD,,,,,,,,,,,,Granulomatous lymphocytic interstitial lung disease,FALSE,FALSE,Draft +GARD:12087,Legacy,GARD,,,,,,,,,,,,Urticaria,FALSE,FALSE,Draft +GARD:12088,Legacy,GARD,,,,,,,,,,,,Hemoglobin SE disease,TRUE,FALSE,Active +GARD:12089,Legacy,GARD,,,,,,,,,,,,Hemihypertrophy,TRUE,FALSE,Active +GARD:12090,Legacy,GARD,,,,,,,,,,,,Azoospermia,FALSE,FALSE,Draft +GARD:12091,Legacy,GARD,,,,,,,,,,,,Obstructive sleep apnea,FALSE,FALSE,Draft +GARD:12092,Legacy,GARD,,,,,,,,,,,,Periodic limb movement disorder,FALSE,FALSE,Draft +GARD:12093,Legacy,GARD,,,,,,,,,,,,Maculopapular cutaneous mastocytosis,FALSE,FALSE,Active +GARD:12094,Legacy,GARD,,,,,,,,,,,,Duane anomaly,FALSE,FALSE,Retired +GARD:12095,Legacy,GARD,,,,,,,,,,,,Blindness,FALSE,FALSE,Draft +GARD:12096,Legacy,GARD,,,,,,,,,,,,Iron overload,FALSE,FALSE,Draft +GARD:12097,Active,Orphanet,ORPHA:275761,Disorder,[Disease],Lysosomal acid lipase deficiency,[LAL deficiency],"A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.",[278000],,,,,Lysosomal acid lipase deficiency,TRUE,FALSE,Active +GARD:12098,Legacy,GARD,,,,,,,,,,,,Deficiencia de la lipasa ácida lisosómica ,TRUE,TRUE,Active +GARD:12099,Active,Orphanet,ORPHA:75234,Subtype of disorder,[Clinical subtype],Cholesteryl ester storage disease,[Cholesterol ester storage disease],"A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.",[278000],,,,,Cholesteryl ester storage disease,TRUE,FALSE,Active +GARD:121,Active,Orphanet,ORPHA:1807,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type III,"[FFDD type III, FFDD3, Focal facial dermal dysplasia 3, Setleis type, Setleis syndrome]","Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.",[227260],,,,,Facial ectodermal dysplasia,TRUE,FALSE,Active +GARD:1210,Active,Orphanet,ORPHA:1394,Disorder,[Malformation syndrome],Cerebrofaciothoracic dysplasia,[Pascual-Castroviejo syndrome type 1],"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.",[213980],,,,,Cerebro facio thoracic dysplasia,TRUE,FALSE,Active +GARD:12100,Legacy,GARD,,,,,,,,,,,,Enfermedad por almacenamiento de ésteres de colesterol,TRUE,TRUE,Active +GARD:12101,Legacy,GARD,,,,,,,,,,,,Enfermedad de Wolman,TRUE,TRUE,Active +GARD:12102,Legacy,GARD,,,,,,,,,,,,Chromosome 9p tetrasomy,TRUE,FALSE,Retired +GARD:12103,Legacy,GARD,,,,,,,,,,,,Complex post-traumatic stress disorder,FALSE,FALSE,Draft +GARD:12104,Legacy,GARD,,,,,,,,,,,,Autoimmune disease,FALSE,FALSE,Internal +GARD:12105,Legacy,GARD,,,,,,,,,,,,Traumatic brain injury,FALSE,FALSE,Draft +GARD:12106,Legacy,GARD,,,,,,,,,,,,Coloboma,FALSE,FALSE,Draft +GARD:12107,Active,Orphanet,ORPHA:178469,Subtype of disorder,[Etiological subtype],Autosomal dominant non-syndromic intellectual disability,,,"[614257, 618330, 612580, 614563, 612581, 614113, 619188, 618106, 156200, 616393, 615828, 616083, 617854, 613970, 612621, 614254, 617796, 614255, 618095, 616977, 617798, 616579, 617799, 614256]",,,,,Autosomal dominant non-syndromic intellectual disability,TRUE,FALSE,Active +GARD:12108,Legacy,GARD,,,,,,,,,,,,Scoliosis,FALSE,FALSE,Draft +GARD:12109,Active,Orphanet,ORPHA:33364,Disorder,[Disease],Trichothiodystrophy,,"Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).","[616395, 616943, 300953, 601675, 618546, 616390, 234050]",,,,,Trichothiodystrophy ,TRUE,FALSE,Active +GARD:12110,Legacy,GARD,,,,,,,,,,,,Post orgasmic sick syndrome,TRUE,FALSE,Retired +GARD:12113,Legacy,GARD,,,,,,,,,,,,Trochleitis,TRUE,FALSE,Active +GARD:12114,Legacy,GARD,,,,,,,,,,,,Hypotension,FALSE,FALSE,Draft +GARD:12115,Legacy,GARD,,,,,,,,,,,,Hypermethioninemia,FALSE,FALSE,Draft +GARD:12116,Legacy,GARD,,,,,,,,,,,,Neuropsychiatric systemic lupus erythematosus,FALSE,FALSE,Draft +GARD:12117,Active,Orphanet,ORPHA:2512,Subtype of disorder,[Etiological subtype],Autosomal recessive primary microcephaly,"[MCPH, Microcephalia vera, Microcephaly vera, True microcephaly]",Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.,"[617800, 618351, 614852, 251200, 616486, 616080, 604321, 616051, 617983, 608393, 614673, 617090, 617984, 618179, 616402, 608716, 604317, 617985, 617914, 603802, 604804, 612703, 616681]",,,,,Autosomal recessive primary microcephaly,TRUE,FALSE,Active +GARD:12118,Legacy,GARD,,,,,,,,,,,,Polyneuropathy,FALSE,FALSE,Draft +GARD:12119,Legacy,GARD,,,,,,,,,,,,Unspecified chromosome abnormality,FALSE,FALSE,Draft +GARD:12120,Legacy,GARD,,,,,,,,,,,,Síndrome del cabello impeinable ,TRUE,TRUE,Active +GARD:12121,Legacy,GARD,,,,,,,,,,,,Lisencefalia ligada al X asociada a genitales anormales,TRUE,TRUE,Active +GARD:12122,Legacy,GARD,,,,,,,,,,,,Sialorrhea,FALSE,FALSE,Retired +GARD:12123,Active,Orphanet,ORPHA:294975,Disorder,[Morphological anomaly],Congenital absence of upper arm and forearm with hand present,[Humero-radio-ulnar intercalary transverse meromelia],"A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.",,,,,,Phocomelia,TRUE,FALSE,Active +GARD:12124,Active,Orphanet,ORPHA:158061,Disorder,[Clinical syndrome],Macrophage activation syndrome,,"A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.",,,,,,Macrophage activation syndrome,TRUE,FALSE,Active +GARD:12125,Active,Orphanet,ORPHA:289666,Disorder,[Disease],Plasmablastic lymphoma,[PBL],"A rare aggressive B-cell non-Hodgkin lymphoma characterized by neoplastic cells resembling B immunoblasts or plasmablasts with a CD20-negative plasmacytic phenotype. The tumor may occur in the oral cavity, the gastrointestinal tract, or other, predominantly extranodal, sites and is typically associated with immunodeficiency or -suppression. The tumor cells are EBV-positive in most cases. Patients often present with disseminated bone involvement. Paraproteinemia may also be detected. Prognosis is generally poor.",,,,,,Plasmablastic lymphoma,TRUE,FALSE,Active +GARD:12126,Legacy,GARD,,,,,,,,,,,,Small fiber neuropathy,TRUE,FALSE,Draft +GARD:12127,Legacy,GARD,,,,,,,,,,,,Chromosome 1q21.1 rearrangement,FALSE,FALSE,Draft +GARD:12128,Active,Orphanet,ORPHA:79282,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblC","[CblC defect, Cobalamin C defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, Methylmalonic aciduria with homocystinuria, type cblC]","cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.",[277400],,,,,Methylmalonic acidemia with homocystinuria type cblC,TRUE,FALSE,Active +GARD:12129,Legacy,GARD,,,,,,,,,,,,Degenerative myopia,FALSE,FALSE,Draft +GARD:12130,Legacy,GARD,,,,,,,,,,,,Eosinophilic mastitis,TRUE,FALSE,Active +GARD:12131,Legacy,GARD,,,,,,,,,,,,Optic neuropathy,FALSE,FALSE,Active +GARD:12132,Legacy,GARD,,,,,,,,,,,,Rheumatoid arthritis-interstitial lung disease,FALSE,FALSE,Draft +GARD:12133,Legacy,GARD,,,,,,,,,,,,Nodding syndrome,TRUE,FALSE,Active +GARD:12134,Legacy,GARD,,,,,,,,,,,,Chromosome 18p deletion syndrome,FALSE,FALSE,Retired +GARD:12135,Legacy,GARD,,,,,,,,,,,,Brachial plexus injury,FALSE,FALSE,Draft +GARD:12136,Legacy,GARD,,,,,,,,,,,,C1q nephropathy,TRUE,FALSE,Active +GARD:12137,Legacy,GARD,,,,,,,,,,,,Multiple chemical sensitivity,FALSE,FALSE,Draft +GARD:12138,Legacy,GARD,,,,,,,,,,,,Apocrine carcinoma,TRUE,FALSE,Active +GARD:12140,Legacy,GARD,,,,,,,,,,,,Trisomy 3 syndrome,FALSE,FALSE,Retired +GARD:12141,Legacy,GARD,,,,,,,,,,,,May-Thurner syndrome,TRUE,FALSE,Active +GARD:12142,Legacy,GARD,,,,,,,,,,,,Melanocytic matricoma,FALSE,FALSE,Draft +GARD:12143,Legacy,GARD,,,,,,,,,,,,Optic atrophy,FALSE,FALSE,Draft +GARD:12144,Active,Orphanet,ORPHA:255,Group of disorders,[Clinical group],Dopa-responsive dystonia,"[HPD with diurnal fluctuation, Hereditary progressive dystonia with diurnal fluctuation]","Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.",,,,,,GTPCH1-deficient DRD,TRUE,FALSE,Active +GARD:12145,Legacy,GARD,,,,,,,,,,,,Attention deficit hyperactivity disorder ,FALSE,FALSE,Draft +GARD:12146,Legacy,GARD,,,,,,,,,,,,Night blindness,FALSE,FALSE,Draft +GARD:12147,Legacy,GARD,,,,,,,,,,,,Insensibilidad congénita al dolor,TRUE,TRUE,Active +GARD:12148,Legacy,GARD,,,,,,,,,,,,Argyria,FALSE,FALSE,Draft +GARD:12149,Legacy,GARD,,,,,,,,,,,,Alien hand syndrome,TRUE,FALSE,Active +GARD:12150,Legacy,GARD,,,,,,,,,,,,Allergy to anesthetic,FALSE,FALSE,Draft +GARD:12151,Legacy,GARD,,,,,,,,,,,,Crusted scabies,TRUE,FALSE,Active +GARD:12152,Legacy,GARD,,,,,,,,,,,,Polymyalgia rheumatica,FALSE,FALSE,Draft +GARD:12153,Legacy,GARD,,,,,,,,,,,,Unilateral focal polymicrogyria,FALSE,FALSE,Draft +GARD:12154,Legacy,GARD,,,,,,,,,,,,Síndrome de Emanuel,TRUE,TRUE,Active +GARD:12155,Legacy,GARD,,,,,,,,,,,,Renal hypomagnesemia-6,TRUE,FALSE,Active +GARD:12156,Legacy,GARD,,,,,,,,,,,,Posterior Cortical Atrophy ,FALSE,FALSE,Draft +GARD:12157,Legacy,GARD,,,,,,,,,,,,Bertolotti syndrome,FALSE,FALSE,Draft +GARD:12158,Legacy,GARD,,,,,,,,,,,,Thoracic aortic aneurysm,FALSE,FALSE,Draft +GARD:12159,Legacy,GARD,,,,,,,,,,,,Hemoglobin C-beta-thalassemia,FALSE,FALSE,Draft +GARD:12160,Legacy,GARD,,,,,,,,,,,,Atopic dermatitis,FALSE,FALSE,Draft +GARD:12161,Legacy,GARD,,,,,,,,,,,,Adenocarcinoma,FALSE,FALSE,Draft +GARD:12162,Active,Orphanet,ORPHA:97239,Disorder,[Disease],Reducing body myopathy,,Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.,"[300717, 300718]",,,,,Reducing body myopathy,TRUE,FALSE,Active +GARD:12163,Active,Orphanet,ORPHA:209905,Disorder,[Disease],Brain-lung-thyroid syndrome,[Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome],"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).",[610978],,,,,Brain-lung-thyroid syndrome,TRUE,FALSE,Active +GARD:12164,Legacy,GARD,,,,,,,,,,,,Dysautonomia,FALSE,FALSE,Draft +GARD:12165,Legacy,GARD,,,,,,,,,,,,Familial Dupuytren contracture,FALSE,FALSE,Active +GARD:12166,Active,Orphanet,ORPHA:228384,Disorder,[Malformation syndrome],5q14.3 microdeletion syndrome,"[Del(5)(q14.3), Monosomy 5q14.3]","The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.",[613443],,,,,5q14.3 microdeletion syndrome ,TRUE,FALSE,Active +GARD:12168,Legacy,GARD,,,,,,,,,,,,Hemoglobin J Baltimore,FALSE,FALSE,Draft +GARD:12169,Legacy,GARD,,,,,,,,,,,,Mucous membrance pemphigoid,FALSE,FALSE,Draft +GARD:1217,Active,Orphanet,ORPHA:247691,Disorder,[Disease],Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,"[RVCL, RVCL-S, Retinal vasculopathy and cerebral leukoencephalopathy]","A rare inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS) all exhibiting progressive visual impairment as well as variable cerebral dysfunction.",[192315],,,,,Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations,TRUE,FALSE,Active +GARD:12170,Legacy,GARD,,,,,,,,,,,,"Phospolipase A2, Group VI",FALSE,FALSE,Retired +GARD:12171,Legacy,GARD,,,,,,,,,,,,Cleft lip/palate,FALSE,FALSE,Draft +GARD:12172,Legacy,GARD,,,,,,,,,,,,Deafness,FALSE,FALSE,Draft +GARD:12173,Active,Orphanet,ORPHA:505652,Disorder,[Disease],CDKL5-deficiency disorder,[CDD],A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.,[300672],,,,,CDKL5 deficiency disorder,TRUE,FALSE,Active +GARD:12174,Legacy,GARD,,,,,,,,,,,,Spondylocostal dysostosis,TRUE,FALSE,Active +GARD:12175,Legacy,GARD,,,,,,,,,,,,Partial lipodystrophy,FALSE,FALSE,Retired +GARD:12176,Legacy,GARD,,,,,,,,,,,,Adrenal hyperplasia ,FALSE,FALSE,Draft +GARD:12177,Legacy,GARD,,,,,,,,,,,,Acquired Glanzmann Thrombasthenia,FALSE,FALSE,Draft +GARD:12178,Legacy,GARD,,,,,,,,,,,,Autoinflammatory pustular neutrophilic disease ,FALSE,FALSE,Draft +GARD:12179,Legacy,GARD,,,,,,,,,,,,Sulfite sensitivity,FALSE,FALSE,Draft +GARD:1218,Active,Orphanet,ORPHA:228337,Subtype of disorder,[Etiological subtype],CLN10 disease,[Cathepsin D deficiency],,[610127],,,,,Neuronal ceroid lipofuscinosis 10 ,TRUE,FALSE,Active +GARD:12180,Legacy,GARD,,,,,,,,,,,, Mitochondrial neurogastrointestinal encephalopathy disease (mngie),FALSE,FALSE,Retired +GARD:12181,Legacy,GARD,,,,,,,,,,,,Mitochondrial disease,FALSE,FALSE,Draft +GARD:12182,Legacy,GARD,,,,,,,,,,,,PIK3CA-related overgrowth spectrum,TRUE,FALSE,Active +GARD:12183,Legacy,GARD,,,,,,,,,,,,Alternaria,FALSE,FALSE,Draft +GARD:12184,Legacy,GARD,,,,,,,,,,,, Severe malignant osteopetrosis,FALSE,FALSE,Draft +GARD:12185,Active,Orphanet,ORPHA:65682,Disorder,[Disease],Benign recurrent intrahepatic cholestasis,"[BRIC, Summerskill-Walshe-Tygstrup syndrome]","Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).","[243300, 605479]",,,,,Benign recurrent intrahepatic cholestasis,TRUE,FALSE,Active +GARD:12186,Legacy,GARD,,,,,,,,,,,,Melkersson Rosenthal Syndrome,FALSE,FALSE,Draft +GARD:12187,Legacy,GARD,,,,,,,,,,,,Muiltfocal non-infectious encephalitis,FALSE,FALSE,Draft +GARD:12188,Legacy,GARD,,,,,,,,,,,,Tracheomalacia,FALSE,FALSE,Retired +GARD:12189,Legacy,GARD,,,,,,,,,,,,Hyponatremia,FALSE,FALSE,Draft +GARD:1219,Active,Orphanet,ORPHA:228329,Subtype of disorder,[Etiological subtype],CLN1 disease,,,[256730],,,,,Ceroid lipofuscinosis neuronal 1,TRUE,FALSE,Active +GARD:12190,Legacy,GARD,,,,,,,,,,,,Sepsis ,FALSE,FALSE,Draft +GARD:12191,Legacy,GARD,,,,,,,,,,,,Deficiencia de isobutiril-CoA-deshidrogenasa,TRUE,TRUE,Active +GARD:12192,Legacy,GARD,,,,,,,,,,,,Peripheral neuropathy,FALSE,FALSE,Active +GARD:12193,Legacy,GARD,,,,,,,,,,,,Leukocytosis,FALSE,FALSE,Draft +GARD:12194,Legacy,GARD,,,,,,,,,,,,Posterior cortical atrophy (Benson's syndrome),FALSE,FALSE,Draft +GARD:12195,Legacy,GARD,,,,,,,,,,,,Paroxysmal dystonia,FALSE,FALSE,Draft +GARD:12196,Legacy,GARD,,,,,,,,,,,,Chromosome 1p36 duplication,FALSE,FALSE,Draft +GARD:12197,Legacy,GARD,,,,,,,,,,,,Infantile Myofibroma ,FALSE,FALSE,Active +GARD:12198,Legacy,GARD,,,,,,,,,,,,Antiphospholipid syndrome with lupus antibodies ,FALSE,FALSE,Draft +GARD:12199,Active,Orphanet,ORPHA:439212,Disorder,[Disease],Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,[EMARDD],"A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.",[614399],,,,,"Early-onset myopathy, areflexia, respiratory distress and dysphagia",TRUE,FALSE,Active +GARD:122,Active,Orphanet,ORPHA:85191,Disorder,[Malformation syndrome],Singleton-Merten dysplasia,[Singleton-Merten syndrome],"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).","[616298, 182250]",,,,,Singleton-Merten syndrome,TRUE,FALSE,Active +GARD:1220,Active,Orphanet,ORPHA:228366,Subtype of disorder,[Etiological subtype],CLN7 disease,,,[610951],,,,,Neuronal ceroid lipofuscinosis 7,TRUE,FALSE,Active +GARD:12200,Legacy,GARD,,,,,,,,,,,,Hyperparathyroidism,FALSE,FALSE,Draft +GARD:12201,Legacy,GARD,,,,,,,,,,,,Adenolyosuccinate Lyase Deficiency ,FALSE,FALSE,Draft +GARD:12202,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 2,TRUE,TRUE,Active +GARD:12203,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 3,TRUE,TRUE,Active +GARD:12204,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 4,TRUE,TRUE,Active +GARD:12205,Legacy,GARD,,,,,,,,,,,,Frontotemporal dementia with parkinsonism-17,FALSE,FALSE,Draft +GARD:12206,Legacy,GARD,,,,,,,,,,,,Pulsatile tinnitus,FALSE,FALSE,Draft +GARD:12207,Legacy,GARD,,,,,,,,,,,,Raoultella ornithinolytica,FALSE,FALSE,Draft +GARD:12208,Legacy,GARD,,,,,,,,,,,,Sudden unexplained nocturnal death syndrome,FALSE,FALSE,Draft +GARD:12210,Legacy,GARD,,,,,,,,,,,,Bladder cancer,FALSE,FALSE,Active +GARD:12211,Legacy,GARD,,,,,,,,,,,,eye floaters,FALSE,FALSE,Draft +GARD:12212,Legacy,GARD,,,,,,,,,,,,Pilomatrixomas,FALSE,FALSE,Draft +GARD:12213,Legacy,GARD,,,,,,,,,,,,Central auditory processing disorder (CAPD),FALSE,FALSE,Retired +GARD:12214,Legacy,GARD,,,,,,,,,,,,scar tissue as a result of vitrectomy ,FALSE,FALSE,Draft +GARD:12215,Legacy,GARD,,,,,,,,,,,,Síndrome nefrótico,FALSE,TRUE,Draft +GARD:12216,Legacy,GARD,,,,,,,,,,,,Adrenoleucodistrofia ligada al X ,TRUE,TRUE,Active +GARD:12217,Legacy,GARD,,,,,,,,,,,,Pudenal neuraligia,FALSE,FALSE,Draft +GARD:12218,Legacy,GARD,,,,,,,,,,,,Diabetes MODY,TRUE,TRUE,Draft +GARD:12219,Active,Orphanet,ORPHA:94065,Subtype of disorder,[Etiological subtype],15q24 microdeletion syndrome,"[Del(15)(q24), Monosomy 15q24]","15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.",[613406],,,,,15q24 microdeletion syndrome,TRUE,FALSE,Active +GARD:1222,Active,Orphanet,ORPHA:228343,Subtype of disorder,[Etiological subtype],CLN4B disease,,,[162350],,,,,Autosomal dominant neuronal ceroid lipofuscinosis 4B,TRUE,FALSE,Active +GARD:12220,Legacy,GARD,,,,,,,,,,,,Pulmonary embolism with acute pancreatitis,FALSE,FALSE,Draft +GARD:12221,Legacy,GARD,,,,,,,,,,,,nested variant of urothelial carcinoma,FALSE,FALSE,Draft +GARD:12222,Legacy,GARD,,,,,,,,,,,,Bronquiolitis obliterante ,TRUE,TRUE,Active +GARD:12223,Legacy,GARD,,,,,,,,,,,,Cataplexy,FALSE,FALSE,Draft +GARD:12224,Legacy,GARD,,,,,,,,,,,,Cowpox,FALSE,FALSE,Draft +GARD:12225,Legacy,GARD,,,,,,,,,,,,Spherocytosis,FALSE,FALSE,Draft +GARD:12226,Legacy,GARD,,,,,,,,,,,,Amyloidosis,FALSE,FALSE,Draft +GARD:12227,Legacy,GARD,,,,,,,,,,,,Chromosome 3q microduplication,FALSE,FALSE,Retired +GARD:12228,Legacy,GARD,,,,,,,,,,,,Síndrome de Morgagni-Stewart-Morel ,TRUE,TRUE,Active +GARD:12229,Legacy,GARD,,,,,,,,,,,,"47,XY,+i(8p)/46,XY (mosaic tetrasomy 8p)",FALSE,FALSE,Draft +GARD:1223,Active,Orphanet,ORPHA:228360,Subtype of disorder,[Etiological subtype],CLN5 disease,,,[256731],,,,,Neuronal ceroid lipofuscinosis 5,TRUE,FALSE,Active +GARD:12230,Legacy,GARD,,,,,,,,,,,,varicose vein ,FALSE,FALSE,Draft +GARD:12231,Legacy,GARD,,,,,,,,,,,,Neuralgia-inducing cavitational osteonecrosis (NICO),FALSE,FALSE,Draft +GARD:12232,Active,Orphanet,ORPHA:284324,Disorder,[Disease],Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 7, SCAR7]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.",[609270],,,,,Spinocerebellar ataxia autosomal recessive 7,TRUE,FALSE,Active +GARD:12233,Legacy,GARD,,,,,,,,,,,,MED23,TRUE,FALSE,Active +GARD:12234,Active,Orphanet,ORPHA:88644,Disorder,[Disease],"Autosomal recessive ataxia, Beauce type","[ARCA1, Autosomal recessive cerebellar ataxia type 1, SCAR8]",A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.,[610743],,,,,Spinocerebellar ataxia autosomal recessive 8,TRUE,FALSE,Active +GARD:12235,Legacy,GARD,,,,,,,,,,,,Hyperostosis frontalis interna,FALSE,FALSE,Draft +GARD:12236,Legacy,GARD,,,,,,,,,,,,Ischemic optic neuropathy,FALSE,FALSE,Draft +GARD:12237,Legacy,GARD,,,,,,,,,,,,Sensorineural hearing loss,FALSE,FALSE,Retired +GARD:12238,Legacy,GARD,,,,,,,,,,,,Chromosome 1 deletion,FALSE,FALSE,Draft +GARD:12239,Legacy,GARD,,,,,,,,,,,,ACTH deficiency,FALSE,FALSE,Draft +GARD:1224,Active,Orphanet,ORPHA:228363,Subtype of disorder,[Etiological subtype],CLN6 disease,,,[601780],,,,,Neuronal ceroid lipofuscinosis 6,TRUE,FALSE,Active +GARD:12240,Legacy,GARD,,,,,,,,,,,,athelia,FALSE,FALSE,Draft +GARD:12241,Active,Orphanet,ORPHA:309015,Subtype of disorder,[Etiological subtype],Familial lipoprotein lipase deficiency,[LPL deficiency],,"[144250, 238600]",,,,,Familial lipoprotein lipase deficiency,TRUE,FALSE,Active +GARD:12242,Legacy,GARD,,,,,,,,,,,,"Síndrome 47, XYY",TRUE,TRUE,Active +GARD:12243,Legacy,GARD,,,,,,,,,,,,Nonischemic cardiomyopathy,FALSE,FALSE,Draft +GARD:12244,Active,Orphanet,ORPHA:363558,Disorder,[Disease],New-onset refractory status epilepticus,[NORSE],"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.",,,,,,New-onset refractory status epilepticus,TRUE,FALSE,Active +GARD:12245,Legacy,GARD,,,,,,,,,,,,Myopia,FALSE,FALSE,Draft +GARD:12246,Legacy,GARD,,,,,,,,,,,,Branch retinal vein occlusion,FALSE,FALSE,Draft +GARD:12247,Legacy,GARD,,,,,,,,,,,,barium toxicity ,FALSE,FALSE,Draft +GARD:12248,Legacy,GARD,,,,,,,,,,,,spastic paraplegia,FALSE,FALSE,Draft +GARD:12249,Legacy,GARD,,,,,,,,,,,,Latent autoimmune diabetes in adults,FALSE,FALSE,Draft +GARD:12250,Legacy,GARD,,,,,,,,,,,,Congenital unilateral lower lip paralysis,FALSE,FALSE,Draft +GARD:12251,Active,Orphanet,ORPHA:1885,Disorder,[Malformation syndrome],Isolated ectopia lentis,"[Ectopia lentis syndrome, Familial ectopia lentis]","Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.","[225100, 225200, 129600]",,,,,Isolated ectopia lentis,TRUE,FALSE,Active +GARD:12252,Legacy,GARD,,,,,,,,,,,,Chiari malformations,FALSE,FALSE,Retired +GARD:12253,Legacy,GARD,,,,,,,,,,,,Autoimmune blistering disease,FALSE,FALSE,Draft +GARD:12255,Legacy,GARD,,,,,,,,,,,,Síndrome de Klippel-Trénaunay,TRUE,TRUE,Active +GARD:12256,Legacy,GARD,,,,,,,,,,,,Hypogammaglobulinemia,FALSE,FALSE,Draft +GARD:12257,Active,Orphanet,ORPHA:300857,Disorder,[Disease],T-cell/histiocyte rich large B cell lymphoma,[THRLBCL],"T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.",,,,,,T-cell/histiocyte rich large B cell lymphoma,TRUE,FALSE,Active +GARD:12258,Legacy,GARD,,,,,,,,,,,,Cataracts,FALSE,FALSE,Draft +GARD:12259,Legacy,GARD,,,,,,,,,,,,Glycogen storage disease,FALSE,FALSE,Draft +GARD:1226,Active,Orphanet,ORPHA:2218,Disorder,[Disease],Cervical hypertrichosis-peripheral neuropathy syndrome,,"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.",[239840],,,,,Cervical hypertrichosis peripheral neuropathy,TRUE,FALSE,Active +GARD:12260,Legacy,GARD,,,,,,,,,,,,Síndrome del ojo de gato,TRUE,TRUE,Active +GARD:12261,Legacy,GARD,,,,,,,,,,,,Trisomy 15,FALSE,FALSE,Draft +GARD:12262,Legacy,GARD,,,,,,,,,,,,Syncope,FALSE,FALSE,Draft +GARD:12263,Legacy,GARD,,,,,,,,,,,,Proliferative verrucous leukoplakia,TRUE,FALSE,Active +GARD:12264,Active,Orphanet,ORPHA:36383,Disorder,[Disease],COL4A1-related familial vascular leukoencephalopathy,"[COL4A1-related brain small vessel disease with hemorrhage, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome]","COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.",[175780],,,,,COL4A1-related brain small-vessel disease,FALSE,FALSE,Draft +GARD:12265,Legacy,GARD,,,,,,,,,,,,Methicillin-resistant Staphylococcus aureus,FALSE,FALSE,Draft +GARD:12266,Legacy,GARD,,,,,,,,,,,,"Blepharophimosis, ptosis, and epicanthus inversus syndrome",TRUE,FALSE,Active +GARD:12267,Active,Orphanet,ORPHA:88642,Disorder,[Disease],Congenital insensitivity to pain-anosmia-neuropathic arthropathy,[SCN9A-related congenital insensitivity to pain],,[243000],,,,,Congenital insensitivity to pain,TRUE,FALSE,Active +GARD:12268,Legacy,GARD,,,,,,,,,,,,Dimethylsulfidemia,TRUE,FALSE,Draft +GARD:12269,Legacy,GARD,,,,,,,,,,,,Hemihipertrofia,TRUE,TRUE,Active +GARD:1227,Legacy,GARD,,,,,,,,,,,,"Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction",TRUE,FALSE,Active +GARD:12270,Legacy,GARD,,,,,,,,,,,,Síndrome de Beckwith-Wiedemann ,TRUE,TRUE,Active +GARD:12271,Legacy,GARD,,,,,,,,,,,,Polymicrogyria,FALSE,FALSE,Active +GARD:12272,Legacy,GARD,,,,,,,,,,,,Abdominal adhesions,FALSE,FALSE,Draft +GARD:12273,Legacy,GARD,,,,,,,,,,,,Encephalomalacia,FALSE,FALSE,Draft +GARD:12274,Legacy,GARD,,,,,,,,,,,,Inflammatory arthritis,FALSE,FALSE,Draft +GARD:12275,Legacy,GARD,,,,,,,,,,,,Disaccharide deficiency,FALSE,FALSE,Draft +GARD:12276,Legacy,GARD,,,,,,,,,,,,Hereditary Neuropathy with Pressure Palsy,FALSE,FALSE,Draft +GARD:12277,Legacy,GARD,,,,,,,,,,,,Macular amyloidosis,FALSE,FALSE,Draft +GARD:12278,Legacy,GARD,,,,,,,,,,,,Gastroparesis,TRUE,FALSE,Active +GARD:12279,Legacy,GARD,,,,,,,,,,,,Malignant ectomesenchymoma ,TRUE,FALSE,Active +GARD:12280,Active,Orphanet,ORPHA:226298,Group of disorders,[Clinical group],Central congenital hypothyroidism,[Secondary hypothyroidism],Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.,,,,,,Central congenital hypothyroidism,TRUE,FALSE,Active +GARD:12281,Active,Orphanet,ORPHA:435988,Disorder,[Disease],Chronic atrial and intestinal dysrhythmia syndrome,"[CAID syndrome, Chronic atrial dysrhythmia-intestinal motility disorder]","A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.",[616201],,,,,CAID syndrome,TRUE,FALSE,Active +GARD:12282,Legacy,GARD,,,,,,,,,,,,Síndrome de Lynch,TRUE,TRUE,Active +GARD:12283,Legacy,GARD,,,,,,,,,,,,Myiasis,FALSE,FALSE,Draft +GARD:12285,Legacy,GARD,,,,,,,,,,,,Ovarian sex cord tumor with annular tubules,TRUE,FALSE,Active +GARD:12287,Legacy,GARD,,,,,,,,,,,,Tetrasomy 13,FALSE,FALSE,Draft +GARD:12288,Legacy,GARD,,,,,,,,,,,,Disostosis espondilotorácica,TRUE,TRUE,Active +GARD:12289,Legacy,GARD,,,,,,,,,,,,Ictiosis recesiva ligada al cromosoma X,TRUE,TRUE,Active +GARD:12290,Legacy,GARD,,,,,,,,,,,,Sclerocornea,FALSE,FALSE,Draft +GARD:12291,Active,Orphanet,ORPHA:48471,Group of disorders,[Category],Lissencephaly,,The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.,,,,,,Lissencephaly,TRUE,FALSE,Active +GARD:12292,Legacy,GARD,,,,,,,,,,,,Cholinergic urticaria,FALSE,FALSE,Draft +GARD:12293,Legacy,GARD,,,,,,,,,,,,Toxoplasmosis,FALSE,FALSE,Draft +GARD:12294,Legacy,GARD,,,,,,,,,,,,Diabetic ketoacidosis,FALSE,FALSE,Draft +GARD:12295,Legacy,GARD,,,,,,,,,,,,BPES,FALSE,FALSE,Draft +GARD:12296,Legacy,GARD,,,,,,,,,,,,Lactose Intolerance,FALSE,FALSE,Draft +GARD:12297,Legacy,GARD,,,,,,,,,,,,chromosome 2 paracentric inversion,FALSE,TRUE,Draft +GARD:12298,Legacy,GARD,,,,,,,,,,,,Major depressive disorder,FALSE,FALSE,Draft +GARD:12299,Active,Orphanet,ORPHA:75374,Disorder,[Disease],Bradyopsia,"[PERRS, Prolonged electroretinal response suppression]","Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.",[608415],,,,,Bradyopsia,TRUE,FALSE,Active +GARD:12300,Active,Orphanet,ORPHA:280270,Disorder,[Disease],Pelizaeus-Merzbacher-like disease,[PMLD],Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).,"[612233, 260600, 608804, 300523]",,,,,Pelizaeus-Merzbacher-like disease,TRUE,FALSE,Active +GARD:12301,Active,Orphanet,ORPHA:614,Disorder,[Disease],Thomsen and Becker disease,[Myotonia congenita],"A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).","[160800, 255700]",,,,,Myotonia congenita,TRUE,FALSE,Active +GARD:12302,Legacy,GARD,,,,,,,,,,,,Livedo Reticularis,FALSE,FALSE,Draft +GARD:12303,Legacy,GARD,,,,,,,,,,,,Arthritis,FALSE,FALSE,Draft +GARD:12304,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type C,TRUE,FALSE,Draft +GARD:12305,Legacy,GARD,,,,,,,,,,,,SCAR9,FALSE,FALSE,Retired +GARD:12306,Legacy,GARD,,,,,,,,,,,,Horsefly bite,FALSE,FALSE,Retired +GARD:12307,Legacy,GARD,,,,,,,,,,,,Cephalohematoma,FALSE,FALSE,Retired +GARD:12308,Active,Orphanet,ORPHA:293208,Disorder,[Disease],Celiac artery compression syndrome,"[Dunbar syndrome, MALS, Median arcuate ligament syndrome]","A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.",,,,,,Median arcuate ligament syndrome,TRUE,FALSE,Active +GARD:12309,Legacy,GARD,,,,,,,,,,,,Posterior reversible encephalopathy syndrome,FALSE,FALSE,Draft +GARD:12310,Legacy,GARD,,,,,,,,,,,,Ataxia,FALSE,FALSE,Draft +GARD:12311,Active,Orphanet,ORPHA:53690,Disorder,[Disease],Congenital lactase deficiency,,Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.,[223000],,,,,Congenital lactase deficiency,TRUE,FALSE,Active +GARD:12312,Active,Orphanet,ORPHA:85173,Disorder,[Malformation syndrome],IMAGe syndrome,[Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome],"A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.",[614732],,,,,IMAGe syndrome,TRUE,FALSE,Active +GARD:12313,Legacy,GARD,,,,,,,,,,,,Familiar chronic mucocutaneous candidiasis,FALSE,FALSE,Active +GARD:12314,Active,Orphanet,ORPHA:391487,Disorder,[Disease],Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,,"An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.",[614162],,,,,Autosomal dominant candidiasis familial chronic mucocutaneous,TRUE,FALSE,Active +GARD:12315,Active,Orphanet,ORPHA:404454,Disorder,[Disease],Alacrimia-choreoathetosis-liver dysfunction syndrome,"[NGLY1 deficiency, NGLY1-CDDG]","A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.",[615273],,,,,Deficiency of N-glycanase 1,TRUE,FALSE,Active +GARD:12316,Active,Orphanet,ORPHA:436159,Disorder,[Disease],Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,"[ALPS due to CTLA4 haploinsuffiency, CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration disease]","A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.",[616100],,,,,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,TRUE,FALSE,Active +GARD:12317,Legacy,GARD,,,,,,,,,,,,Dysgeusia,FALSE,FALSE,Draft +GARD:12318,Legacy,GARD,,,,,,,,,,,,Enfermedad de Danon,TRUE,TRUE,Active +GARD:12319,Legacy,GARD,,,,,,,,,,,,Genitourinary venolymphatic malformation,FALSE,FALSE,Draft +GARD:12320,Legacy,GARD,,,,,,,,,,,,Epiglottitis,FALSE,FALSE,Retired +GARD:12321,Legacy,GARD,,,,,,,,,,,,Double outlet right atrium,TRUE,FALSE,Active +GARD:12322,Legacy,GARD,,,,,,,,,,,,Skewfoot deformity,FALSE,FALSE,Draft +GARD:12323,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos,TRUE,TRUE,Active +GARD:12324,Legacy,GARD,,,,,,,,,,,,Seudotumor cerebri,TRUE,TRUE,Active +GARD:12325,Legacy,GARD,,,,,,,,,,,,4-aminobutyrate aminotransferase deficiency,FALSE,FALSE,Retired +GARD:12327,Legacy,GARD,,,,,,,,,,,,Metacondromatosis,TRUE,TRUE,Active +GARD:12328,Active,Orphanet,ORPHA:64752,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 5,"[Congenital insensitivity to pain and thermal analgesia, HSAN5, Hereditary sensory and autonomic neuropathy type V]","A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.",[608654],,,,,Hereditary sensory and autonomic neuropathy type V,TRUE,FALSE,Active +GARD:12329,Legacy,GARD,,,,,,,,,,,,Liquen plano pigmentoso,TRUE,TRUE,Active +GARD:1233,Active,Orphanet,ORPHA:1401,Disorder,[Malformation syndrome],CHAND syndrome,"[Baughman syndrome, CHANDS, Curly hair-ankyloblepharon-nail dysplasia syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.",[214350],,,,,CHAND syndrome,TRUE,FALSE,Retired +GARD:12330,Legacy,GARD,,,,,,,,,,,,Frontal lobe damage,FALSE,FALSE,Draft +GARD:12331,Active,Orphanet,ORPHA:36204,Group of disorders,[Clinical group],Intestinal lymphangiectasia,,,,,,,,Intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:12332,Legacy,GARD,,,,,,,,,,,,Epstein-Barr virus,FALSE,FALSE,Retired +GARD:12334,Legacy,GARD,,,,,,,,,,,,Macular Pucker,FALSE,FALSE,Draft +GARD:12335,Active,Orphanet,ORPHA:213610,Disorder,[Disease],Carcinosarcoma of the corpus uteri,"[Malignant mixed Müllerian tumor of the corpus uteri, Mixed Müllerian cancer of corpus uteri, Uterine carcinosarcoma]","Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.",,,,,,Uterine Carcinosarcoma ,TRUE,FALSE,Active +GARD:12336,Legacy,GARD,,,,,,,,,,,,Leukemia,FALSE,FALSE,Draft +GARD:12337,Legacy,GARD,,,,,,,,,,,,Retinal choroiditis,FALSE,FALSE,Retired +GARD:12338,Active,Orphanet,ORPHA:859,Disorder,[Disease],Transcobalamin deficiency,"[Inherited deficiency of transcobalamin, Transcobalamin II deficiency]","Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.",[275350],,,,,Transcobalamin II Deficiency,FALSE,FALSE,Active +GARD:12339,Legacy,GARD,,,,,,,,,,,,Acute Beryllium disease ,FALSE,FALSE,Retired +GARD:1234,Active,Orphanet,ORPHA:2235,Disorder,[Disease],Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,[Chang-Davidson-Carlson syndrome],This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.,,,,,,Chang Davidson Carlson syndrome,TRUE,FALSE,Retired +GARD:12341,Legacy,GARD,,,,,,,,,,,,Nephrolithiasis,FALSE,FALSE,Draft +GARD:12342,Legacy,GARD,,,,,,,,,,,,Undifferentiated connective tissue disease ,FALSE,FALSE,Active +GARD:12343,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa,TRUE,TRUE,Active +GARD:12344,Active,Orphanet,ORPHA:254367,Group of disorders,[Category],Rare lichen planus,[Rare LP],"Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms).",,,,,,Rare lichen planus,TRUE,FALSE,Active +GARD:12345,Legacy,GARD,,,,,,,,,,,,Síndrome de MonoMAC ,TRUE,TRUE,Active +GARD:12346,Legacy,GARD,,,,,,,,,,,,Cylindroma,TRUE,FALSE,Retired +GARD:12347,Active,Orphanet,ORPHA:38874,Disorder,[Disease],Dihydropyrimidinuria,[Dihydropyrimidinase deficiency],"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.",[222748],,,,,Dihydropyrimidinase deficiency,TRUE,FALSE,Active +GARD:12348,Active,Orphanet,ORPHA:263487,Disorder,[Disease],COG5-CDG,"[CDG syndrome type IIi, CDG-IIi, CDG2I, Carbohydrate deficient glycoprotein syndrome type IIi, Congenital disorder of glycosylation type 2i, Congenital disorder of glycosylation type IIi]","COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.",[613612],,,,,COG5-CDG (CDG-IIi),TRUE,FALSE,Active +GARD:1235,Active,Orphanet,ORPHA:3282,Disorder,[Disease],Multifocal atrial tachycardia,"[Chaotic atrial tachycardia, MAT]",Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.,,,,,,Chaotic atrial tachycardia,TRUE,FALSE,Active +GARD:12350,Legacy,GARD,,,,,,,,,,,,Congenital disorders of glycosylation type IIi,TRUE,FALSE,Retired +GARD:12351,Active,Orphanet+OMIM,OMIM:604370,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 1",[Hboc1],,[604370],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,BRCA1 hereditary breast and ovarian cancer syndrome,TRUE,FALSE,Active +GARD:12352,Active,Orphanet+OMIM,OMIM:612555,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 2",[Hboc2],,[612555],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,BRCA2 hereditary breast and ovarian cancer syndrome,TRUE,FALSE,Active +GARD:12353,Active,Orphanet,ORPHA:324442,Disorder,[Disease],Autosomal recessive axonal neuropathy with neuromyotonia,"[ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia]","A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.",[137200],,,,,Autosomal recessive axonal neuropathy with neuromyotonia,TRUE,FALSE,Active +GARD:12354,Active,Orphanet,ORPHA:93610,Subtype of disorder,[Clinical subtype],Distal renal tubular acidosis with anemia,[dRTA with anemia],A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.,[611590],,,,,Distal renal tubular acidosis with hemolytic anemia,TRUE,FALSE,Active +GARD:12355,Legacy,GARD,,,,,,,,,,,,SLC4A1-associated distal renal tubular acidosis,TRUE,FALSE,Active +GARD:12356,Active,Orphanet+OMIM,OMIM:615582,Subtype of disorder,[Disease subtype],Loeys-dietz syndrome 5,[Rienhoff syndrome],"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by {1:Bertoli-Avella et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 ({609192}).",[615582],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,Rienhoff syndrome,TRUE,FALSE,Active +GARD:12357,Active,Orphanet,ORPHA:425120,Disorder,[Disease],STING-associated vasculopathy with onset in infancy,[SAVI],"STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.",[615934],,,,,STING-associated vasculopathy with onset in infancy,TRUE,FALSE,Active +GARD:12358,Legacy,GARD,,,,,,,,,,,,Recurrent hydatidiform mole,TRUE,FALSE,Active +GARD:12359,Legacy,GARD,,,,,,,,,,,,optic nerve atrophy,FALSE,FALSE,Retired +GARD:12360,Active,Orphanet,ORPHA:83642,Disorder,[Disease],Microcytic anemia with liver iron overload,,A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.,[206100],,,,,Hypochromic microcytic anemia with iron overload,TRUE,FALSE,Active +GARD:12361,Legacy,GARD,,,,,,,,,,,,Eosinophil peroxidase deficiency,TRUE,FALSE,Active +GARD:12362,Active,Orphanet,ORPHA:251274,Disorder,[Disease],Familial hyperaldosteronism type III,"[FH-III, FH3, Familial hyperaldosteronism type 3]","A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.",[613677],,,,,Familial hyperaldosteronism type III ,TRUE,FALSE,Active +GARD:12363,Legacy,GARD,,,,,,,,,,,,Oncopsychosis,FALSE,FALSE,Retired +GARD:12364,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 22,TRUE,FALSE,Retired +GARD:12365,Active,Orphanet,ORPHA:98772,Disorder,[Disease],Spinocerebellar ataxia type 19/22,[SCA19/22],"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.",[607346],,,,,Spinocerebellar ataxia 19 and 22,TRUE,FALSE,Active +GARD:12366,Active,Orphanet,ORPHA:276193,Disorder,[Disease],Spinocerebellar ataxia type 35,[SCA35],"An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.",[613908],,,,,Spinocerebellar ataxia 35,TRUE,FALSE,Active +GARD:12367,Active,Orphanet,ORPHA:276198,Disorder,[Disease],Spinocerebellar ataxia type 36,"[Asidan, SCA36]","An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.",[614153],,,,,Spinocerebellar ataxia 36,TRUE,FALSE,Active +GARD:12368,Active,Orphanet,ORPHA:363710,Disorder,[Disease],Spinocerebellar ataxia type 37,"[SCA37, Spinocerebellar ataxia with altered vertical eye movements]",An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.,[615945],,,,,Spinocerebellar ataxia 37,TRUE,FALSE,Active +GARD:12369,Active,Orphanet,ORPHA:423296,Disorder,[Disease],Spinocerebellar ataxia type 38,[SCA38],"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.",[615957],,,,,Spinocerebellar ataxia 38,TRUE,FALSE,Active +GARD:1237,Active,Orphanet,ORPHA:46627,Disorder,[Malformation syndrome],Char syndrome,[Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).",[169100],,,,,Char syndrome,TRUE,FALSE,Active +GARD:12370,Legacy,GARD,,,,,,,,,,,,Spinal cerebellar ataxia 40,TRUE,FALSE,Retired +GARD:12371,Active,Orphanet,ORPHA:423275,Disorder,[Disease],Spinocerebellar ataxia type 40,[SCA40],"Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.",[616053],,,,,Spinocerebellar ataxia 40,TRUE,FALSE,Active +GARD:12372,Active,Orphanet,ORPHA:314404,Disorder,[Disease],Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,"[ADCA-DN syndrome, Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome]","A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.",[604121],,,,,"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy",TRUE,FALSE,Active +GARD:12373,Legacy,GARD,,,,,,,,,,,,Síndrome de Hennekam,TRUE,TRUE,Active +GARD:12374,Legacy,GARD,,,,,,,,,,,,Esclerosis lateral amiotrófica,TRUE,TRUE,Active +GARD:12375,Active,Orphanet,ORPHA:228000,Disorder,[Biological anomaly],Idiopathic CD4 lymphocytopenia,,"Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.",[615518],,,,,Idiopathic CD4 positive T-lymphocytopenia,TRUE,FALSE,Active +GARD:12376,Legacy,GARD,,,,,,,,,,,,Rubeola congénita,TRUE,TRUE,Active +GARD:12377,Legacy,GARD,,,,,,,,,,,,Hypertrichosis ,FALSE,FALSE,Active +GARD:12378,Legacy,GARD,,,,,,,,,,,,Macular Hole,FALSE,FALSE,Draft +GARD:12379,Legacy,GARD,,,,,,,,,,,,Transcobalamin 2 deficiency,FALSE,FALSE,Retired +GARD:12380,Legacy,GARD,,,,,,,,,,,,Spinal Stenosis,FALSE,FALSE,Draft +GARD:12381,Legacy,GARD,,,,,,,,,,,,Boils,FALSE,FALSE,Retired +GARD:12382,Active,Orphanet,ORPHA:168593,Disorder,[Malformation syndrome],Sudden infant death-dysgenesis of the testes syndrome,[SIDDT],Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.,[608800],,,,,Sudden infant death with dysgenesis of the testes syndrome,TRUE,FALSE,Active +GARD:12383,Active,Orphanet,ORPHA:404553,Disorder,[Disease],Vasculitis due to ADA2 deficiency,[Vasculitis due to DADA2],"Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.",[615688],,,,,Adenosine Deaminase 2 deficiency,TRUE,FALSE,Active +GARD:12384,Active,Orphanet,ORPHA:324561,Disorder,[Disease],Hypopigmentation-punctate palmoplantar keratoderma syndrome,"[Cole disease, Guttate hypopigmentation and punctate palmoplantar keratoderma, Hypopigmentation and punctate keratosis of the palms and soles]","A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.",[615522],,,,,Cole disease ,TRUE,FALSE,Active +GARD:12385,Active,Orphanet,ORPHA:137893,Subtype of disorder,[Clinical subtype],Male infertility due to large-headed multiflagellar polyploid spermatozoa,"[Macrocephalic sperm head syndrome, Male infertility due to macrozoospermia]","A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).",[243060],,,,,Macrozoospermia ,TRUE,FALSE,Active +GARD:12386,Legacy,GARD,,,,,,,,,,,,Trastorno bipolar ,FALSE,TRUE,Active +GARD:12387,Legacy,GARD,,,,,,,,,,,,Fibrosis retroperitoneal,TRUE,TRUE,Active +GARD:12388,Active,Orphanet,ORPHA:370079,Disorder,[Malformation syndrome],Proximal 16p11.2 microduplication syndrome,"[Proximal dup(16)(p11.2), Proximal trisomy 16p11.2]","Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.",[614671],,,,,16p11.2 duplication,TRUE,FALSE,Active +GARD:12389,Legacy,GARD,,,,,,,,,,,,Milk protein allergy,FALSE,FALSE,Retired +GARD:12390,Active,Orphanet,ORPHA:37748,Disorder,[Malformation syndrome],Schnitzler syndrome,"[Chronic urticaria with gammopathy, Chronic urticaria with macroglobulinemia]","Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.",,,,,,Schnitzler syndrome,TRUE,FALSE,Active +GARD:12391,Active,Orphanet+OMIM,OMIM:616056,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 26,"[Epileptic encephalopathy, early infantile, 26]","Developmental and epileptic encephalopathy-26 (DEE26) is a neurologic disorder characterized by onset of variable types of seizures late in infancy or in the first years of life. Affected children show developmental delay with intellectual disability, poor speech, and behavioral abnormalities. EEG shows multifocal epileptic discharges, and may show hypsarrhythmia (summary by {1:Torkamani et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616056],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 26 ,TRUE,FALSE,Active +GARD:12392,Legacy,GARD,,,,,,,,,,,,Cutaneous-skeletal hypophosphatemia syndrome ,TRUE,FALSE,Active +GARD:12393,Active,Orphanet,ORPHA:91131,Disorder,[Disease],DK1-CDG,"[CDG syndrome type Im, CDG-Im, CDG1M, Carbohydrate deficient glycoprotein syndrome type Im, Congenital disorder of glycosylation type 1m, Congenital disorder of glycosylation type Im, Dolichol kinase deficiency, Hypotonia and ichthyosis due to dolichol phosphate deficiency]","DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.",[610768],,,,,DOLK-CDG (CDG-Im),TRUE,FALSE,Active +GARD:12394,Active,Orphanet,ORPHA:244310,Disorder,[Disease],RFT1-CDG,"[CDG syndrome type In, CDG-In, CDG1N, Carbohydrate deficient glycoprotein syndrome type In, Congenital disorder of glycosylation type 1n, Congenital disorder of glycosylation type In, Man5GlcNAc2-PP-Dol flippase deficiency]","RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).",[612015],,,,,RFT1-CDG (CDG-In),TRUE,FALSE,Active +GARD:12395,Active,Orphanet,ORPHA:263494,Disorder,[Disease],DPM3-CDG,"[CDG syndrome type Io, CDG-Io, CDG1O, Carbohydrate deficient glycoprotein syndrome type Io, Congenital disorder of glycosylation type 1o, Congenital disorder of glycosylation type Io]","DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).",[612937],,,,,DPM3-CDG (CDG-Io),TRUE,FALSE,Active +GARD:12396,Active,Orphanet,ORPHA:280071,Disorder,[Disease],ALG11-CDG,"[CDG syndrome type Ip, CDG-Ip, CDG1P, Carbohydrate deficient glycoprotein syndrome type Ip, Congenital disorder of glycosylation type 1p, Congenital disorder of glycosylation type Ip]","A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).",[613661],,,,,ALG11-CDG (CDG-Ip),TRUE,FALSE,Active +GARD:12397,Active,Orphanet,ORPHA:324737,Disorder,[Disease],SRD5A3-CDG,"[CDG syndrome type Iq, CDG-Iq, CDG1Q, Congenital disorder of glycosylation type 1q, Congenital disorder of glycosylation type Iq]","SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.",[612379],,,,,SRD5A3-CDG (CDG-Iq) ,TRUE,FALSE,Active +GARD:12398,Active,Orphanet,ORPHA:300536,Disorder,[Disease],DDOST-CDG,"[CDG syndrome type Ir, CDG-Ir, CDG1R, Carbohydrate deficient glycoprotein syndrome type Ir, Congenital disorder of glycosylation type 1r, Congenital disorder of glycosylation type Ir]","DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).",[614507],,,,,DDOST-CDG (CDG-Ir),TRUE,FALSE,Active +GARD:12399,Legacy,GARD,,,,,,,,,,,,MAGT1-CDG,FALSE,FALSE,Active +GARD:124,Legacy,GARD,,,,,,,,,,,,Allain-Babin-Demarquez syndrome,TRUE,FALSE,Active +GARD:1240,Active,Orphanet,ORPHA:101078,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 4,"[CMT4X, CMTX4, Cowchock syndrome]","X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.",[310490],,,,,X-linked Charcot-Marie-Tooth disease type 4,TRUE,FALSE,Active +GARD:12400,Legacy,GARD,,,,,,,,,,,,TUSC3-CDG,TRUE,FALSE,Active +GARD:12401,Active,Orphanet,ORPHA:324422,Disorder,[Disease],ALG13-CDG,"[CDG syndrome type Is, CDG-Is, CDG1S, Congenital disorder of glycosylation type 1s, Congenital disorder of glycosylation type Is]","A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).",[300884],,,,,ALG13-CDG,TRUE,FALSE,Active +GARD:12403,Active,Orphanet,ORPHA:356961,Disorder,[Disease],SLC35A2-CDG,"[CDG syndrome type IIm, CDG-IIm, CDG2M, Congenital disorder of glycosylation type 2m, Congenital disorder of glycosylation type IIm]","A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).",[300896],,,,,SLC35A2-CDG,TRUE,FALSE,Active +GARD:12404,Active,Orphanet+OMIM,OMIM:615510,Subtype of disorder,[Disease subtype],"Alacrima, achalasia, and mental retardation syndrome",,"Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome ({231550}), but patients with AAMR do not have adrenal insufficiency (summary by {3:Koehler et al., 2013}).\n\nSee also {300858} for a phenotypically similar disorder that shows X-linked inheritance.",[615510],[869],[Triple A syndrome],[457],,GMPPA-CDG,TRUE,FALSE,Active +GARD:12405,Active,Orphanet,ORPHA:370927,Disorder,[Disease],SSR4-CDG,"[CDG syndrome type Iy, CDG-Iy, CDG1Y, Carbohydrate deficient glycoprotein syndrome type Iy, Congenital disorder of glycosylation type 1y, Congenital disorder of glycosylation type Iy]","SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).",[300934],,,,,SSR4-CDG,TRUE,FALSE,Active +GARD:12406,Legacy,GARD,,,,,,,,,,,,STT3A-CDG and STT3B-CDG,TRUE,FALSE,Active +GARD:12407,Legacy,GARD,,,,,,,,,,,,Adverse events of 5-alpha-reductase inhibitors,TRUE,FALSE,Active +GARD:12408,Legacy,GARD,,,,,,,,,,,,COG7-CDG ,TRUE,FALSE,Retired +GARD:12409,Active,Orphanet,ORPHA:238459,Disorder,[Disease],SLC35A1-CDG,"[CDG syndrome type IIf, CDG-IIf, CDG2F, CMP-sialic acid transporter deficiency, Carbohydrate deficient glycoprotein syndrome type IIf, Congenital disorder of glycosylation type 2f, Congenital disorder of glycosylation type IIf]","SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.",[603585],,,,,SLC35A1-CDG (CDG-IIf),TRUE,FALSE,Active +GARD:1241,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease deafness recessive type,TRUE,FALSE,Retired +GARD:12410,Legacy,GARD,,,,,,,,,,,,COG1-CDG ,FALSE,FALSE,Retired +GARD:12411,Active,Orphanet,ORPHA:95428,Disorder,[Disease],COG8-CDG,"[CDG syndrome type IIh, CDG-IIh, CDG2H, Carbohydrate deficient glycoprotein syndrome type IIh, Congenital disorder of glycosylation type 2h, Congenital disorder of glycosylation type IIh]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.",[611182],,,,,COG8-CDG (CDG-IIh),TRUE,FALSE,Active +GARD:12412,Active,Orphanet,ORPHA:263501,Disorder,[Disease],COG4-CDG,"[CDG syndrome type IIj, CDG-IIj, CDG2J, Carbohydrate deficient glycoprotein syndrome type IIj, Congenital disorder of glycosylation type 2j, Congenital disorder of glycosylation type IIj]","COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.",[613489],,,,,COG4-CDG (CDG-IIj),TRUE,FALSE,Active +GARD:12413,Active,Orphanet,ORPHA:314667,Disorder,[Disease],TMEM165-CDG,"[CDG syndrome type IIk, CDG-IIk, CDG2K, Carbohydrate deficient glycoprotein syndrome type IIk, Congenital disorder of glycosylation type 2k, Congenital disorder of glycosylation type IIk]","TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).",[614727],,,,,TMEM165-CDG (CDG-IIk),TRUE,FALSE,Active +GARD:12414,Legacy,GARD,,,,,,,,,,,,COG6-CDG ,TRUE,FALSE,Retired +GARD:12415,Legacy,GARD,,,,,,,,,,,,DHDDS-CDG,TRUE,FALSE,Active +GARD:12416,Active,Orphanet,ORPHA:329178,Disorder,[Disease],Congenital muscular dystrophy with intellectual disability and severe epilepsy,"[CDG syndrome type Iu, CDG-Iu, CDG1U, CMD with intellectual disability and severe epilepsy, Carbohydrate deficient glycoprotein syndrome type Iu, Congenital disorder of glycosylation type 1u, Congenital disorder of glycosylation type Iu, DPM2-CDG]","Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.",[615042],,,,,DPM2-CDG,TRUE,FALSE,Active +GARD:12417,Active,Orphanet,ORPHA:397941,Disorder,[Disease],MAN1B1-CDG,"[Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency, Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency, Congenital disorder of glycosylation type II due to MAN1B1 deficiency, Intellectual disability-truncal obesity syndrome]","MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).",,,,,,MAN1B1-CDG,TRUE,FALSE,Active +GARD:12418,Legacy,GARD,,,,,,,,,,,,Galactosemia,TRUE,TRUE,Active +GARD:12419,Legacy,GARD,,,,,,,,,,,,Enfermedad de Kawasaki ,TRUE,TRUE,Active +GARD:1242,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth type 1 aplasia cutis congenita,TRUE,FALSE,Retired +GARD:12420,Legacy,GARD,,,,,,,,,,,,Intracranial lipoma,FALSE,FALSE,Retired +GARD:12421,Active,Orphanet,ORPHA:263775,Group of disorders,[Category],Partial duplication of the short arm of chromosome X,"[Partial duplication of chromosome Xp, Partial trisomy of chromosome Xp, Partial trisomy of the short arm of chromosome X]",,,,,,,Partial duplication of the short arm of chromosome X,TRUE,FALSE,Active +GARD:12422,Legacy,GARD,,,,,,,,,,,,Enfermedad de Caffey ,TRUE,TRUE,Active +GARD:12423,Legacy,GARD,,,,,,,,,,,,Hipocondroplasia,TRUE,TRUE,Active +GARD:12425,Legacy,GARD,,,,,,,,,,,,Head and neck cancer,FALSE,FALSE,Active +GARD:12426,Active,Orphanet,ORPHA:1229,Disorder,[Malformation syndrome],Congenital intrauterine infection-like syndrome,"[BLC-PMG, Baraitser-Brett-Piesowicz syndrome, Baraitser-Reardon syndrome, Bilateral band-like calcification with polymicrogyria, Microcephaly-intracranial calcification-intellectual disability syndrome, Pseudo-TORCH syndrome]","Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.",[251290],,,,,Congenital intrauterine infection-like syndrome,TRUE,FALSE,Active +GARD:12427,Legacy,GARD,,,,,,,,,,,,Systemic sclerosis ,TRUE,FALSE,Retired +GARD:12428,Active,Orphanet,ORPHA:280779,Disorder,[Disease],Cutaneous collagenous vasculopathy,[CCV],"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.",,,,,,Cutaneous collagenous vasculopathy,TRUE,FALSE,Active +GARD:12429,Active,Orphanet,ORPHA:228174,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2N,[CMT2N],"A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.",[613287],,,,,Charcot-Marie-Tooth disease type 2N,TRUE,FALSE,Active +GARD:1243,Active,Orphanet,ORPHA:101076,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 2,[CMTX2],"X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.",[302801],,,,,X-linked Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Active +GARD:12430,Legacy,GARD,,,,,,,,,,,,CREST syndromes,TRUE,FALSE,Retired +GARD:12431,Active,Orphanet,ORPHA:64746,Group of disorders,[Clinical group],Autosomal dominant Charcot-Marie-Tooth disease type 2,"[Autosomal dominant axonal Charcot-Marie-Tooth disease, CMT2, Hereditary motor and sensory neuropathy type 2]",,,,,,,Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Active +GARD:12432,Active,Orphanet,ORPHA:99945,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2L,[CMT2L],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.",[608673],,,,,Charcot-Marie-Tooth disease type 2L,TRUE,FALSE,Active +GARD:12433,Active,Orphanet,ORPHA:65753,Group of disorders,[Clinical group],Charcot-Marie-Tooth disease type 1,"[Autosomal dominant demyelinating Charcot-Marie-Tooth disease, CMT1, Charcot-Marie-Tooth neuropathy type 1, Hereditary motor and sensory neuropathy type 1]","Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.",,,,,,Charcot-Marie-Tooth disease type 1,TRUE,FALSE,Active +GARD:12434,Active,Orphanet,ORPHA:284232,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2O,[CMT2O],"A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.",[614228],,,,,Charcot-Marie-Tooth disease type 2O,TRUE,FALSE,Active +GARD:12435,Active,Orphanet,ORPHA:300319,Disorder,[Disease],Charcot-Marie-Tooth disease type 2P,[CMT2P],"Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.",[614436],,,,,Charcot-Marie-Tooth disease type 2P,TRUE,FALSE,Active +GARD:12436,Active,Orphanet,ORPHA:90114,Group of disorders,[Clinical group],Autosomal dominant intermediate Charcot-Marie-Tooth disease,[CMTDI],,,,,,,Autosomal dominant intermediate Charcot-Marie-Tooth,TRUE,FALSE,Active +GARD:12437,Active,Orphanet,ORPHA:100043,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,[CMTDIA],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.",[606483],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,TRUE,FALSE,Active +GARD:12438,Active,Orphanet,ORPHA:100044,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,[CMTDIB],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.",[606482],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,TRUE,FALSE,Active +GARD:12439,Active,Orphanet,ORPHA:100045,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,[CMTDIC],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.",[608323],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,TRUE,FALSE,Active +GARD:1244,Active,Orphanet,ORPHA:101077,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 3,"[CMT3X, CMTX3]","X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.",[302802],,,,,X-linked Charcot-Marie-Tooth disease type 3,TRUE,FALSE,Active +GARD:12440,Active,Orphanet,ORPHA:64749,Group of disorders,[Clinical group],Charcot-Marie-Tooth disease type 4,"[AR-CMT1, Autosomal recessive demyelinating Charcot-Marie-Tooth, CMT4]",A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.,,,,,,Charcot-Marie-Tooth disease type 4,TRUE,FALSE,Active +GARD:12441,Active,Orphanet,ORPHA:99952,Disorder,[Disease],Charcot-Marie-Tooth disease type 4F,[CMT4F],"Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.",[614895],,,,,Charcot-Marie-Tooth disease type 4F,TRUE,FALSE,Active +GARD:12442,Active,Orphanet,ORPHA:99954,Disorder,[Disease],Charcot-Marie-Tooth disease type 4H,[CMT4H],"Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.",[609311],,,,,Charcot-Marie-Tooth disease type 4H,TRUE,FALSE,Active +GARD:12443,Active,Orphanet,ORPHA:139515,Disorder,[Disease],Charcot-Marie-Tooth disease type 4J,[CMT4J],"Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.",[611228],,,,,Charcot-Marie-Tooth disease type 4J,TRUE,FALSE,Active +GARD:12444,Active,Orphanet,ORPHA:64747,Group of disorders,[Clinical group],X-linked Charcot-Marie-Tooth disease,"[CMTX, X-linked hereditary motor and sensory neuropathy]",A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.,,,,,,X-linked Charcot-Marie-Tooth disease,TRUE,FALSE,Active +GARD:12445,Active,Orphanet,ORPHA:352675,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 6,"[CMT6X, CMTX6]","X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).",[300905],,,,,X-linked Charcot-Marie-Tooth disease type 6,TRUE,FALSE,Active +GARD:12446,Active,Orphanet,ORPHA:329258,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Q,[CMT2Q],"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.",[615025],,,,,Charcot-Marie-Tooth disease type 2Q,TRUE,FALSE,Active +GARD:12447,Active,Orphanet,ORPHA:401964,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,"[Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, CMT2 with giant axons, HMSN2 with giant axons]","A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.",[610100],,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,TRUE,FALSE,Active +GARD:12448,Active,Orphanet,ORPHA:101097,Disorder,[Disease],Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,"[ARCMT2K, Autosomal recessive axonal CMT4C4, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K]","A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.","[607706, 607831]",,,,,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,TRUE,FALSE,Active +GARD:12449,Active,Orphanet,ORPHA:91024,Group of disorders,[Clinical group],Autosomal recessive axonal hereditary motor and sensory neuropathy,"[AR-CMT2, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2]",,,,,,,Autosomal recessive axonal Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Retired +GARD:1245,Active,Orphanet,ORPHA:101081,Disorder,[Disease],Charcot-Marie-Tooth disease type 1A,"[CMT1A, Microduplication 17p12]",,[118220],,,,,Charcot-Marie-Tooth disease type 1A,TRUE,FALSE,Active +GARD:12451,Active,Orphanet,ORPHA:397968,Disorder,[Disease],Charcot-Marie-Tooth disease type 2R,[CMT2R],"Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.",[615490],,,,,Charcot-Marie-Tooth disease type 2R,TRUE,FALSE,Active +GARD:12452,Active,Orphanet,ORPHA:268337,Group of disorders,[Clinical group],Autosomal recessive intermediate Charcot-Marie-Tooth disease,[RI-CMT],,,,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease ,TRUE,FALSE,Active +GARD:12453,Active,Orphanet,ORPHA:217055,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,[RI-CMT type A],"A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.",[608340],,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,TRUE,FALSE,Active +GARD:12454,Active,Orphanet,ORPHA:254334,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,[RI-CMT type B],"An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.",[613641],,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,TRUE,FALSE,Active +GARD:12455,Legacy,GARD,,,,,,,,,,,,Hemoglobinopathy,FALSE,FALSE,Active +GARD:12456,Legacy,GARD,,,,,,,,,,,,Sickle cell disease and related disorders,FALSE,FALSE,Active +GARD:12457,Legacy,GARD,,,,,,,,,,,,Hereditary persistence of fetal hemoglobin - sickle cell disease,FALSE,FALSE,Active +GARD:12458,Active,Orphanet,ORPHA:251370,Disorder,[Disease],Sickle cell-hemoglobin D disease syndrome,[HbSD disease],"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.",,,,,,Sickle cell - hemoglobin D disease,TRUE,FALSE,Active +GARD:12459,Active,Orphanet,ORPHA:251355,Group of disorders,[Category],Sickle cell disease associated with another hemoglobin anomaly,[Double heterozygotes sickling disorder],,,,,,,Sickle cell disease associated with an other hemoglobin anomaly,TRUE,FALSE,Active +GARD:1246,Active,Orphanet,ORPHA:101082,Disorder,[Disease],Charcot-Marie-Tooth disease type 1B,[CMT1B],"Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.",[118200],,,,,Charcot-Marie-Tooth disease type 1B,TRUE,FALSE,Active +GARD:12460,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly of the fingers,FALSE,FALSE,Active +GARD:12461,Legacy,GARD,,,,,,,,,,,,Breast cancer,FALSE,FALSE,Draft +GARD:12462,Legacy,GARD,,,,,,,,,,,,Síndrome de Goldenhar ,TRUE,TRUE,Active +GARD:12464,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemia,FALSE,FALSE,Retired +GARD:12465,Legacy,GARD,,,,,,,,,,,,Thrombotic Microangiopathy,FALSE,FALSE,Active +GARD:12467,Legacy,GARD,,,,,,,,,,,,Fibrosis quística,TRUE,TRUE,Active +GARD:12468,Legacy,GARD,,,,,,,,,,,,Heterotopía periventricular nodular ligada al cromosoma X,TRUE,TRUE,Active +GARD:12469,Active,Orphanet,ORPHA:35706,Disorder,[Disease],Glutaric acidemia type 3,"[Glutaric aciduria type 3, Glutaryl-CoA oxidase deficiency]",A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.,[231690],,,,,Glutaric acidemia type III,TRUE,FALSE,Active +GARD:1247,Active,Orphanet,ORPHA:101083,Disorder,[Disease],Charcot-Marie-Tooth disease type 1C,[CMT1C],"A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.",[601098],,,,,Charcot-Marie-Tooth disease type 1C,TRUE,FALSE,Active +GARD:12470,Active,Orphanet,ORPHA:79188,Group of disorders,[Category],Peroxisomal beta-oxidation disorder,,,,,,,,Peroxisomal beta-oxidation disorder,TRUE,FALSE,Active +GARD:12471,Active,Orphanet,ORPHA:163684,Disorder,[Disease],Leukoencephalopathy-dystonia-motor neuropathy syndrome,,"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.",[613724],,,,,Leukoencephalopathy - dystonia - motor neuropathy ,TRUE,FALSE,Active +GARD:12472,Active,Orphanet,ORPHA:369942,Disorder,[Disease],CADDS,"[Contiguous ABCD1 DXS1357E deletion syndrome, Zellweger-like contiguous gene deletion syndrome]","CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).",[300475],,,,,"Deafness, dystonia, and cerebral hypomyelination ",TRUE,FALSE,Active +GARD:12473,Legacy,GARD,,,,,,,,,,,,Ehlers-Danlos syndrome with periventricular heterotopia,TRUE,FALSE,Retired +GARD:12474,Active,Orphanet,ORPHA:75392,Disorder,[Disease],Periodontal Ehlers-Danlos syndrome,"[EDS VIII, Ehlers-Danlos syndrome type 8, Ehlers-Danlos syndrome, periodontitis type, Periodontal EDS, pEDS]","A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.","[130080, 617174]",,,,,Periodontal Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:12475,Legacy,GARD,,,,,,,,,,,,GERD,FALSE,FALSE,Retired +GARD:12476,Active,Orphanet,ORPHA:309810,Group of disorders,[Category],"Disorder of peroxisomal alpha-, beta- and omega-oxidation",,,,,,,,"Disorder of peroxisomal alpha-, beta- and omega-oxidation",TRUE,FALSE,Active +GARD:12477,Legacy,GARD,,,,,,,,,,,,Disorders with deficiency of a single peroxisomal enzyme,TRUE,FALSE,Active +GARD:12478,Active,Orphanet,ORPHA:36355,Disorder,[Disease],Bleeding disorder due to P2Y12 defect,[Bleeding disorder due to ADP platelet receptor P2Y12 defect],"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.",[609821],,,,,Bleeding disorder due to P2RY12 defect,TRUE,FALSE,Active +GARD:12479,Legacy,GARD,,,,,,,,,,,,Supernumerary teeth,FALSE,FALSE,Draft +GARD:1248,Active,Orphanet,ORPHA:99946,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2A1,[CMT2A1],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.",[118210],,,,,Charcot-Marie-Tooth disease type 2A,TRUE,FALSE,Active +GARD:12480,Active,Orphanet,ORPHA:96055,Disorder,[Malformation syndrome],Tetrasomy 21,[Isochromosome 21],"Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.",,,,,,Tetrasomy 21,TRUE,FALSE,Active +GARD:12482,Legacy,GARD,,,,,,,,,,,,Hepatic mesenchymal hamartoma,FALSE,FALSE,Draft +GARD:12483,Active,Orphanet,ORPHA:99098,Disorder,[Morphological anomaly],Cor triatriatum dexter,"[Cor triatriatum dextrum, Divided right atrium]","A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies.",,,,,,Cor triatriatum dexter,TRUE,FALSE,Active +GARD:12484,Active,Orphanet,ORPHA:99099,Disorder,[Morphological anomaly],Cor triatriatum sinister,"[Cor triatriatum sinistrum, Divided left atrium]","A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins and the lower chamber is attached to the left atrial appendage. Therefore, the membrane blocks the orifice of the mitral valve and leads to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.",,,,,,Cor triatriatum sinister,TRUE,FALSE,Active +GARD:12485,Legacy,GARD,,,,,,,,,,,,Syndrome with corpus callosum agenesis /dysgenesis as a major feature,FALSE,FALSE,Draft +GARD:12486,Active,Orphanet,ORPHA:52055,Disorder,[Malformation syndrome],Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,[Graham-Cox syndrome],"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.",[300472],,,,,Graham-Cox syndrome,TRUE,FALSE,Active +GARD:12487,Active,Orphanet,ORPHA:1495,Disorder,[Malformation syndrome],Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,[Da Silva syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.",,,,,,Intellectual disability - hypoplastic corpus callosum - preauricular tag,TRUE,FALSE,Active +GARD:12488,Legacy,GARD,,,,,,,,,,,,White matter hypoplasia - corpus callosum agenesis - intellectual disability,FALSE,FALSE,Retired +GARD:12489,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis,TRUE,FALSE,Active +GARD:1249,Active,Orphanet,ORPHA:101101,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B2,"[AR-CMT2B2, Autosomal recessive axonal CMT4C3, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2]","Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.",[605589],,,,,Charcot-Marie-Tooth disease type 2B2,TRUE,FALSE,Active +GARD:12491,Active,Orphanet,ORPHA:452,Disorder,[Malformation syndrome],X-linked lissencephaly with abnormal genitalia,"[X-linked lissencephaly with ambiguous genitalia, X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome, XLAG (X-linked lissencephaly with abnormal genitalia) syndrome]","X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.",[300215],,,,,X-linked lissencephaly with abnormal genitalia,TRUE,FALSE,Active +GARD:12492,Active,Orphanet,ORPHA:261295,Disorder,[Malformation syndrome],20p12.3 microdeletion syndrome,"[Del(20)(p12.3), Monosomy 20p12.3]","20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.",,,,,,20p12.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:12493,Legacy,GARD,,,,,,,,,,,,11p11.2 duplication,FALSE,FALSE,Draft +GARD:12494,Active,Orphanet,ORPHA:178345,Disorder,[Disease],Aromatase excess syndrome,"[AEXS, Familial hyperestrogenism, Hereditary prepubertal gynecomastia]","A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.",[139300],,,,,Aromatase excess syndrome,TRUE,FALSE,Active +GARD:12495,Legacy,GARD,,,,,,,,,,,,ctest,FALSE,FALSE,Retired +GARD:12496,Legacy,GARD,,,,,,,,,,,,gastric fundal diverticulum,FALSE,FALSE,Draft +GARD:12497,Legacy,GARD,,,,,,,,,,,,Follicular mucinosis,FALSE,FALSE,Draft +GARD:12498,Legacy,GARD,,,,,,,,,,,,Pseudohipoparatiroidismo,TRUE,TRUE,Active +GARD:12499,Legacy,GARD,,,,,,,,,,,,Obsessive-compulsive disorder ,FALSE,FALSE,Draft +GARD:125,Active,Orphanet,ORPHA:38,Disorder,[Disease],Acrokeratoelastoidosis of Costa,"[AKE, PPKP3, Punctate palmoplantar hyperkeratosis type 3, Punctate palmoplantar keratoderma type 3]","A rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later",[101850],,,,,Acrokeratoelastoidosis of Costa,TRUE,FALSE,Active +GARD:1250,Active,Orphanet,ORPHA:99937,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2C,[CMT2C],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.",[606071],,,,,Charcot-Marie-Tooth disease type 2C,TRUE,FALSE,Active +GARD:12500,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi ,TRUE,TRUE,Active +GARD:12501,Active,Orphanet,ORPHA:391372,Disorder,[Malformation syndrome],Intellectual disability-severe speech delay-mild dysmorphism syndrome,[FOXP1 syndrome],"Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.",[613670],,,,,Intellectual disability-severe speech delay-mild dysmorphism syndrome ,TRUE,FALSE,Active +GARD:12502,Active,Orphanet,ORPHA:171709,Subtype of disorder,[Clinical subtype],Male infertility due to globozoospermia,"[Male infertility due to round-headed spermatozoa, Round-headed sperm syndrome]","Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.","[102530, 613958]",,,,,Globozoospermia,TRUE,FALSE,Active +GARD:12503,Active,Orphanet,ORPHA:309252,Subtype of disorder,[Clinical subtype],Atypical Gaucher disease due to saposin C deficiency,,,[610539],,,,,Atypical Gaucher disease due to saposin C deficiency,TRUE,FALSE,Active +GARD:12504,Active,Orphanet,ORPHA:2072,Subtype of disorder,[Clinical subtype],Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,"[Cardiovascular Gaucher disease, Gaucher disease type 3C, Gaucher-like disease]","Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.",[231005],,,,,Gaucher disease - ophthalmoplegia - cardiovascular calcification,TRUE,FALSE,Active +GARD:12505,Active,Orphanet,ORPHA:139406,Disorder,[Disease],Encephalopathy due to prosaposin deficiency,[Combined prosaposin deficiency],A lysosomal storage disease belonging to the group of sphingolipidoses.,[611721],,,,,Encephalopathy due to prosaposin deficiency,TRUE,FALSE,Active +GARD:12506,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis,TRUE,TRUE,Active +GARD:12507,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis tipo 1 ,TRUE,TRUE,Active +GARD:12508,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis tipo 2,TRUE,TRUE,Active +GARD:12509,Legacy,GARD,,,,,,,,,,,,Schwannomatosis,TRUE,TRUE,Active +GARD:1251,Active,Orphanet,ORPHA:99938,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2D,[CMT2D],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.",[601472],,,,,Charcot-Marie-Tooth disease type 2D,TRUE,FALSE,Active +GARD:12510,Active,Orphanet,ORPHA:309144,Group of disorders,[Category],Gangliosidosis,,,,,,,,Gangliosidosis,TRUE,FALSE,Active +GARD:12511,Active,Orphanet,ORPHA:79204,Group of disorders,[Category],Lipid storage disease,,,,,,,,Lipid storage disease,TRUE,FALSE,Draft +GARD:12512,Legacy,GARD,,,,,,,,,,,,Male infertility with spermatogenesis disorder,FALSE,FALSE,Draft +GARD:12513,Active,Orphanet,ORPHA:399786,Group of disorders,[Category],Male infertility with spermatogenesis disorder due to single gene mutation,,,,,,,,Male infertility with spermatogenesis disorder due to single gene mutation ,TRUE,FALSE,Active +GARD:12514,Legacy,GARD,,,,,,,,,,,,Male infertility with teratozoospermia due to single gene mutation,FALSE,FALSE,Active +GARD:12515,Legacy,GARD,,,,,,,,,,,,Male infertility with azoospermia or oligozoospermia due to single gene mutation ,FALSE,FALSE,Draft +GARD:12516,Legacy,GARD,,,,,,,,,,,,Pernicious anemias,FALSE,FALSE,Retired +GARD:12517,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo hipermóvil,TRUE,TRUE,Active +GARD:12518,Legacy,GARD,,,,,,,,,,,,Encefalopatía por glicina,TRUE,TRUE,Active +GARD:1252,Active,Orphanet,ORPHA:99948,Disorder,[Disease],Charcot-Marie-Tooth disease type 4A,[CMT4A],"Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.",[214400],,,,,Charcot-Marie-Tooth disease type 4A,TRUE,FALSE,Active +GARD:12521,Active,Orphanet,ORPHA:284264,Group of disorders,[Clinical group],IgG4-related disease,"[IgG4-related sclerosing disease, Immunoglobulin G4-related sclerosing disease]",,,,,,,IgG4-related disease ,TRUE,FALSE,Active +GARD:12522,Legacy,GARD,,,,,,,,,,,,Enterovesical fistula,TRUE,FALSE,Active +GARD:12523,Legacy,GARD,,,,,,,,,,,,Distrofia miotónica tipo 1,TRUE,TRUE,Active +GARD:12524,Active,Orphanet,ORPHA:275543,Disorder,[Malformation syndrome],L1 syndrome,"[CRASH syndrome, Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome, L1CAM syndrome]","A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.","[303350, 307000, 304100]",,,,,L1 syndrome,TRUE,FALSE,Active +GARD:12525,Active,Orphanet,ORPHA:306617,Subtype of disorder,[Clinical subtype],X-linked complicated spastic paraplegia type 1,[SPG1],"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.",,,,,,X-linked complicated spastic paraplegia type 1,TRUE,FALSE,Active +GARD:12526,Active,Orphanet,ORPHA:1497,Subtype of disorder,[Clinical subtype],X-linked complicated corpus callosum dysgenesis,,"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.",[304100],,,,,X-linked complicated corpus callosum agenesis,TRUE,FALSE,Active +GARD:12527,Legacy,GARD,,,,,,,,,,,,Limb-girdle muscular dystrophy type 1C,TRUE,FALSE,Active +GARD:12528,Active,Orphanet,ORPHA:34516,Disorder,[Disease],DNAJB6-related limb-girdle muscular dystrophy D1,"[Autosomal dominant limb-girdle muscular dystrophy type 1D, DNAJB6-related LGMD D1, LGMD type 1D, LGMD1D, Limb-girdle muscular dystrophy type 1D]","A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.",[603511],,,,,Limb-girdle muscular dystrophy type 1D,TRUE,FALSE,Active +GARD:12529,Legacy,GARD,,,,,,,,,,,,Limb-girdle muscular dystrophy type 1E,TRUE,FALSE,Active +GARD:1253,Active,Orphanet,ORPHA:99955,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B1,[CMT4B1],"Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).",[601382],,,,,Charcot-Marie-Tooth disease type 4B1,TRUE,FALSE,Active +GARD:12530,Active,Orphanet,ORPHA:55595,Disorder,[Disease],TNP03-related limb-girdle muscular dystrophy D2,"[Autosomal dominant limb-girdle muscular dystrophy type 1F, LGMD type 1F, LGMD1F, Limb-girdle muscular dystrophy type 1F]","A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.",[608423],,,,,Limb-girdle muscular dystrophy type 1F,TRUE,FALSE,Active +GARD:12531,Active,Orphanet,ORPHA:55596,Disorder,[Disease],HNRNPDL-related limb-girdle muscular dystrophy D3,"[Autosomal dominant limb-girdle muscular dystrophy type 1G, HNRNPDL-related LGMD D3, LGMD type 1G, LGMD1G, Limb-girdle muscular dystrophy type 1G]","A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.",[609115],,,,,Limb-girdle muscular dystrophy type 1G,TRUE,FALSE,Active +GARD:12532,Active,Orphanet,ORPHA:238755,Disorder,[Disease],Autosomal dominant limb-girdle muscular dystrophy type 1H,[LGMD1H],"A rare subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.",[613530],,,,,Limb-girdle muscular dystrophy type 1H,TRUE,FALSE,Active +GARD:12533,Active,Orphanet,ORPHA:34515,Disorder,[Disease],FKRP-related limb-girdle muscular dystrophy R9,"[Autosomal recessive limb-girdle muscular dystrophy type 2I, FKRP-related LGMD R9, LGMD due to FKRP deficiency, LGMD type 2I, LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, Limb-girdle muscular dystrophy type 2I]","A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.",[607155],,,,,Limb-girdle muscular dystrophy type 2I,TRUE,FALSE,Active +GARD:12534,Active,Orphanet,ORPHA:140922,Disorder,[Disease],Titin-related limb-girdle muscular dystrophy R10,"[Autosomal recessive limb-girdle muscular dystrophy type 2J, LGMD type 2J, LGMD2J, Limb-girdle muscular dystrophy type 2J, Titin-related LGMD R10]","A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.",[608807],,,,,Limb-girdle muscular dystrophy type 2J,TRUE,FALSE,Active +GARD:12535,Active,Orphanet,ORPHA:86812,Disorder,[Disease],POMT1-related limb-girdle muscular dystrophy R11,"[Autosomal recessive limb-girdle muscular dystrophy type 2K, LGMD type 2K, LGMD2K, Limb-girdle muscular dystrophy type 2K, Limb-girdle muscular dystrophy-intellectual disability syndrome, POMT1-related LGMD R11]","A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.",[609308],,,,,Limb-girdle muscular dystrophy type 2K,TRUE,FALSE,Active +GARD:12536,Active,Orphanet,ORPHA:206549,Disorder,[Disease],Anoctamin-5-related limb-girdle muscular dystrophy R12,"[Anoctamin-5-related LGMD R12, Autosomal recessive limb-girdle muscular dystrophy type 2L, LGMD type 2L, LGMD2L, Limb-girdle muscular dystrophy type 2L]","A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.",[611307],,,,,Limb-girdle muscular dystrophy type 2L,TRUE,FALSE,Active +GARD:12537,Legacy,GARD,,,,,,,,,,,,Fistula enterovesical ,TRUE,TRUE,Active +GARD:12538,Active,Orphanet,ORPHA:206554,Disorder,[Disease],Fukutin-related limb-girdle muscular dystrophy R13,"[Autosomal recessive LGMD type 2M, Autosomal recessive limb-girdle muscular dystrophy type 2M, Fukutin-related LGMD R13, LGMD type 2M, LGMD2M]","A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.",[611588],,,,,Limb-girdle muscular dystrophy type 2M,TRUE,FALSE,Active +GARD:12539,Active,Orphanet,ORPHA:206559,Disorder,[Disease],POMT2-related limb-girdle muscular dystrophy R14,"[Autosomal recessive limb-girdle muscular dystrophy type 2N, LGMD type 2N, LGMD2N, Limb-girdle muscular dystrophy type 2N, POMT2-related LGMD R14]","A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).",[613158],,,,,Limb-girdle muscular dystrophy type 2N,TRUE,FALSE,Active +GARD:1254,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease dominant intermediate 1,TRUE,FALSE,Retired +GARD:12540,Active,Orphanet,ORPHA:206564,Disorder,[Disease],POMGNT1-related limb-girdle muscular dystrophy R15,"[Autosomal recessive limb-girdle muscular dystrophy type 2O, LGMD type 2O, LGMD2O, Limb-girdle muscular dystrophy type 2O, POMGNT1-related LGMD R15]","A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.",[613157],,,,,Limb-girdle muscular dystrophy type 2O,TRUE,FALSE,Active +GARD:12541,Active,Orphanet,ORPHA:280333,Disorder,[Disease],Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,"[Alpha-dystroglycan-related LGMD R16, Autosomal recessive limb-girdle muscular dystrophy type 2P, LGMD type 2P, LGMD2P, Limb-girdle muscular dystrophy type 2P]","A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.",[613818],,,,,Limb-girdle muscular dystrophy type 2P,TRUE,FALSE,Active +GARD:12542,Active,Orphanet,ORPHA:254361,Disorder,[Disease],Plectin-related limb-girdle muscular dystrophy R17,"[Autosomal recessive limb-girdle muscular dystrophy type 2Q, LGMD type 2Q, LGMD2Q, Limb-girdle muscular dystrophy type 2Q, Plectin-related LGMD R17]",A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.,[613723],,,,,Limb-girdle muscular dystrophy type 2Q ,TRUE,FALSE,Active +GARD:12543,Active,Orphanet,ORPHA:369840,Disorder,[Disease],TRAPPC11-related limb-girdle muscular dystrophy R18,"[Autosomal recessive limb-girdle muscular dystrophy type 2S, LGMD type 2S, LGMD2S, Limb-girdle muscular dystrophy type 2S, TRAPPC11-related LGMD R18]","A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.",[615356],,,,,Limb-girdle muscular dystrophy type 2S,TRUE,FALSE,Active +GARD:12544,Active,Orphanet,ORPHA:363623,Disorder,[Disease],GMPPB-related limb-girdle muscular dystrophy R19,"[Autosomal recessive limb-girdle muscular dystrophy type 2T, GMPPB-related LGMD R19, LGMD type 2T, LGMD2T, Limb-girdle muscular dystrophy type 2T]","A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.",[615352],,,,,Limb-girdle muscular dystrophy type 2T,TRUE,FALSE,Active +GARD:12545,Legacy,GARD,,,,,,,,,,,,Ocular albinism,FALSE,FALSE,Draft +GARD:12546,Legacy,GARD,,,,,,,,,,,,Influenza,FALSE,FALSE,Draft +GARD:12547,Active,Orphanet,ORPHA:331235,Disorder,[Disease],Selective IgM deficiency,[Selective immunoglobulin M deficiency],"A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.",,,,,,Selective IgM deficiency,TRUE,FALSE,Active +GARD:12548,Legacy,GARD,,,,,,,,,,,,Mucolipidosis,FALSE,FALSE,Draft +GARD:12549,Legacy,GARD,,,,,,,,,,,,Convergence insufficiency,FALSE,FALSE,Draft +GARD:1255,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type A,TRUE,FALSE,Retired +GARD:12550,Active,Orphanet,ORPHA:289465,Disorder,[Disease],Isolated congenital adermatoglyphia,"[Congenital absence of fingerprints, Immigration delay disease]","Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.",[136000],,,,,Adermatoglyphia,TRUE,FALSE,Active +GARD:12551,Active,Orphanet,ORPHA:238722,Disorder,[Disease],Familial congenital mirror movements,"[Familial congenital controlateral synkinesia, Hereditary congenital controlateral synkinesia, Hereditary congenital mirror movements, Isolated congenital controlateral synkinesia, Isolated congenital mirror movements]","A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.","[618264, 614508, 157600, 616059]",,,,,Congenital mirror movement disorder,TRUE,FALSE,Active +GARD:12552,Legacy,GARD,,,,,,,,,,,,Spinal Cord Injury,FALSE,FALSE,Draft +GARD:12554,Legacy,GARD,,,,,,,,,,,,Síndrome cardio-facio-cutáneo ,TRUE,TRUE,Active +GARD:12555,Legacy,GARD,,,,,,,,,,,,Colon cancer,FALSE,FALSE,Draft +GARD:12556,Active,Orphanet,ORPHA:631,Disorder,[Disease],Non-acquired isolated growth hormone deficiency,"[Congenital IGHD, Congenital isolated GH deficiency, Congenital isolated growth hormone deficiency]","A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.","[300123, 612781, 262650, 173100, 262400, 307200]",,,,,Isolated growth hormone deficiency,TRUE,FALSE,Active +GARD:12557,Legacy,GARD,,,,,,,,,,,,Déficit de la hormona de crecimiento,TRUE,TRUE,Active +GARD:12558,Active,Orphanet+OMIM,OMIM:612621,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 5","[Mental retardation, autosomal dominant 5]","Intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by {1:Berryer et al., 2013}).",[612621],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,SYNGAP1-related non-syndromic intellectual disability,TRUE,FALSE,Active +GARD:12559,Active,Orphanet,ORPHA:93473,Subtype of disorder,[Clinical subtype],Hurler syndrome,"[Hurler disease, MPS1H, MPSIH, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis type IH]","Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.",[607014],,,,,Hurler syndrome,TRUE,FALSE,Active +GARD:1256,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type B,TRUE,FALSE,Retired +GARD:12560,Active,Orphanet,ORPHA:93476,Subtype of disorder,[Clinical subtype],Hurler-Scheie syndrome,"[MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type IH/S]","Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.",[607015],,,,,Hurler–Scheie syndrome ,TRUE,FALSE,Active +GARD:12561,Active,Orphanet,ORPHA:93474,Subtype of disorder,[Clinical subtype],Scheie syndrome,"[MPS1S, MPSIS, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type IS]","Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.",[607016],,,,,Scheie syndrome ,TRUE,FALSE,Active +GARD:12562,Active,Orphanet,ORPHA:582,Disorder,[Disease],Mucopolysaccharidosis type 4,"[MPS4, MPSIV, Morquio disease, Mucopolysaccharidosis type IV]","A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.","[252300, 253000, 253010]",,,,,Mucopolysaccharidosis type IV,TRUE,FALSE,Active +GARD:12563,Legacy,GARD,,,,,,,,,,,,Lymphedema,FALSE,FALSE,Active +GARD:12564,Legacy,GARD,,,,,,,,,,,,Testicular sex cord stromal tumor,FALSE,FALSE,Draft +GARD:12565,Legacy,GARD,,,,,,,,,,,,Hyperhidrosis,FALSE,FALSE,Draft +GARD:12566,Legacy,GARD,,,,,,,,,,,,Hiatal hernia,FALSE,FALSE,Draft +GARD:12567,Active,Orphanet,ORPHA:329303,Group of disorders,[Clinical group],PLA2G6-associated neurodegeneration,[PLAN],,,,,,,PLA2G6-associated neurodegeneration,TRUE,FALSE,Retired +GARD:12568,Active,Orphanet,ORPHA:199351,Disorder,[Disease],Adult-onset dystonia-parkinsonism,"[Dystonia-parkinsonism, Paisan-Ruiz type, PARK14, PLA2G6-related dystonia-parkinsonism]","A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.",[612953],,,,,NBIA/DYT/PARK-PLA2G6,TRUE,FALSE,Active +GARD:12569,Active,Orphanet,ORPHA:289560,Disorder,[Disease],Mitochondrial membrane protein-associated neurodegeneration,"[MPAN, NBIA due to C19orf12 mutation, NBIA4, Neurodegeneration with brain iron accumulation due to C19orf12 mutation, Neurodegeneration with brain iron accumulation type 4]","A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.",[614298],,,,,Mitochondrial Membrane Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:1257,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type D,TRUE,FALSE,Retired +GARD:12570,Active,Orphanet,ORPHA:329284,Disorder,[Disease],Beta-propeller protein-associated neurodegeneration,"[BPAN, NBIA5, Neurodegeneration with brain iron accumulation type 5, SENDA, Static encephalopathy of childhood with neurodegeneration in adulthood]","Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.",[300894],,,,,Beta-Propeller Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:12571,Active,Orphanet,ORPHA:397725,Disorder,[Disease],COASY protein-associated neurodegeneration,"[CoPAN, NBIA6, Neurodegeneration with brain iron accumulation due to COASY mutation]","COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.",[615643],,,,,COASY Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:12572,Legacy,GARD,,,,,,,,,,,,Gamapatía monoclonal de significado incierto ,TRUE,TRUE,Active +GARD:1258,Active,Orphanet,ORPHA:101075,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 1,"[CMT1X, CMTX1]","X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.",[302800],,,,,X-linked Charcot-Marie-Tooth disease type 1,TRUE,FALSE,Active +GARD:12583,Legacy,GARD,,,,,,,,,,,,Progressive muscular dystrophy,FALSE,FALSE,Draft +GARD:12584,Active,Orphanet,ORPHA:370953,Group of disorders,[Category],Congenital muscular dystrophy due to dystroglycanopathy,[CMD due to dystroglycanopathy],,,,,,,Congenital muscular dystrophy due to dystroglycanopathy ,TRUE,FALSE,Active +GARD:12585,Active,Orphanet,ORPHA:157973,Disorder,[Disease],Congenital muscular dystrophy due to LMNA mutation,"[L-CMD, LMNA-related congenital muscular dystrophy]","A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.",[613205],,,,,Congenital muscular dystrophy due to LMNA mutation,TRUE,FALSE,Active +GARD:12586,Active,Orphanet,ORPHA:98893,Disorder,[Disease],Congenital muscular dystrophy type 1B,"[CMD1B, MDC1B]","Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.",[604801],,,,,Congenital muscular dystrophy type 1B,TRUE,FALSE,Draft +GARD:12587,Active,Orphanet,ORPHA:34520,Disorder,[Disease],Congenital muscular dystrophy with integrin alpha-7 deficiency,[Congenital muscular dystrophy with ITGA7 deficiency],"Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.",[613204],,,,,Congenital muscular dystrophy with integrin alpha-7 deficiency,TRUE,FALSE,Active +GARD:12588,Active,Orphanet,ORPHA:352687,Group of disorders,[Clinical group],Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,"[Lissencephaly type 2 with muscular and ocular involvement, MDDGA]","Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.",,,,,,Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,TRUE,FALSE,Active +GARD:12589,Legacy,GARD,,,,,,,,,,,,Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B),TRUE,FALSE,Active +GARD:12590,Active,Orphanet,ORPHA:45358,Disorder,[Disease],Congenital fibrosis of extraocular muscles,[FEOM],"A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.","[609384, 602078, 609612, 135700, 600638, 609428]",,,,,Congenital fibrosis of extraocular muscles,TRUE,FALSE,Active +GARD:12591,Active,Orphanet,ORPHA:178464,Disorder,[Disease],Hereditary myopathy with early respiratory failure,"[Edström Myopathy, HIBM-ERF, HMERF, Hereditary inclusion body myopathy with early respiratory failure, MFM-titinopathy, Myofibrillar myopathy with early respiratory failure, Myofibrillar myopathy-titinopathy]","A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.",[603689],,,,,Hereditary proximal myopathy with early respiratory failure,TRUE,FALSE,Active +GARD:12592,Active,Orphanet,ORPHA:98897,Disorder,[Disease],Oculopharyngodistal myopathy,"[OPDM, Oculopharyngeal distal myopathy]","A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.","[164310, 618940]",,,,,Oculopharyngodistal myopathy,TRUE,FALSE,Active +GARD:12593,Legacy,GARD,,,,,,,,,,,,Déficit aislado de hormona de crecimiento,TRUE,TRUE,Active +GARD:12594,Legacy,GARD,,,,,,,,,,,,Congenital hemifacial hyperplasia,FALSE,FALSE,Draft +GARD:12595,Legacy,GARD,,,,,,,,,,,,Retinopatía de la prematuridad ,TRUE,TRUE,Active +GARD:12596,Active,Orphanet,ORPHA:90970,Group of disorders,[Category],Primary lipodystrophy,,A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).,,,,,,Primary lipodystrophy ,TRUE,FALSE,Draft +GARD:12597,Active,Orphanet,ORPHA:98305,Group of disorders,[Category],Genetic lipodystrophy,,,,,,,,Genetic lipodystrophy,TRUE,FALSE,Retired +GARD:12598,Active,Orphanet,ORPHA:79084,Disorder,[Disease],"Familial partial lipodystrophy, Köbberling type","[FPLD1, Familial partial lipodystrophy type 1]","Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.",[608600],,,,,Familial partial lipodystrophy type Köbberling,TRUE,FALSE,Active +GARD:12599,Active,Orphanet,ORPHA:79085,Disorder,[Disease],AKT2-related familial partial lipodystrophy,[AKT2-related FPLD],"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.",,,,,,Familial partial lipodystrophy due to AKT2 mutations,TRUE,FALSE,Active +GARD:12600,Active,Orphanet,ORPHA:79083,Disorder,[Disease],PPARG-related familial partial lipodystrophy,"[FPLD3, Familial partial lipodystrophy type 3, PPARG-related FPLD]","A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.",[604367],,,,,Familial partial lipodystrophy associated with PPARG mutations,TRUE,FALSE,Active +GARD:12601,Active,Orphanet,ORPHA:280356,Disorder,[Disease],PLIN1-related familial partial lipodystrophy,"[FPLD4, PLIN1-related FPLD]","A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.",[613877],,,,,Familial partial lipodystrophy associated with PLIN1 mutations,TRUE,FALSE,Active +GARD:12602,Active,Orphanet,ORPHA:98307,Group of disorders,[Category],Acquired lipodystrophy,,,,,,,,Acquired lipodystrophy ,TRUE,FALSE,Draft +GARD:12603,Active,Orphanet,ORPHA:79086,Disorder,[Disease],Acquired generalized lipodystrophy,"[Acquired lipoatrophic diabetes, Lawrence syndrome, Lawrence-Seip syndrome]","A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).",,,,,,Acquired generalized lipodystrophy,TRUE,FALSE,Active +GARD:12604,Active,Orphanet,ORPHA:1979,Disorder,[Disease],Lipodystrophy due to peptidic growth factors deficiency,"[Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency, Hoepffner-Dreyer-Reimers syndrome, Werner-like syndrome due to combined growth factor deficiency]","A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.",[233805],,,,,Lipodystrophy due to peptidic growth factors deficiency,TRUE,FALSE,Retired +GARD:12605,Legacy,GARD,,,,,,,,,,,,Vesicoureteral reflux,FALSE,FALSE,Draft +GARD:12606,Legacy,GARD,,,,,,,,,,,,Out of Scope,FALSE,FALSE,Internal +GARD:12608,Legacy,GARD,,,,,,,,,,,,Genetic diseases,FALSE,FALSE,Internal +GARD:12609,Legacy,GARD,,,,,,,,,,,,Distrofia muscular ,TRUE,TRUE,Active +GARD:1261,Active,Orphanet,ORPHA:1406,Disorder,[Malformation syndrome],Charlie M syndrome,,"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.",,,,,,Charlie M syndrome,TRUE,FALSE,Active +GARD:12610,Active,Orphanet,ORPHA:157965,Subtype of disorder,[Clinical subtype],SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,"[SCD-EDS, SLC39A13-related spEDS, SLC39A13-related spondylodysplastic EDS, Spondylocheirodysplastic Ehlers-Danlos syndrome, spEDS-SLC39A13]","A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.",[612350],,,,,"Ehlers-Danlos syndrome, spondylocheirodysplastic type",TRUE,FALSE,Retired +GARD:12611,Legacy,GARD,,,,,,,,,,,,Síndrome de Glass-Chapman-Hockley,TRUE,TRUE,Active +GARD:12612,Legacy,GARD,,,,,,,,,,,,Síndrome de Haim-Munk,TRUE,TRUE,Active +GARD:12613,Active,Orphanet,ORPHA:230851,Disorder,[Disease],Cardiac-valvular Ehlers-Danlos syndrome,"[Cardiac-valvular EDS, cvEDS]","A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.",[225320],,,,,Cardiac-Valvular Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:12614,Legacy,GARD,,,,,,,,,,,,Queratodermia palmoplantar,TRUE,TRUE,Active +GARD:12615,Legacy,GARD,,,,,,,,,,,,Síndrome de Papillon-Lefèvre,TRUE,TRUE,Active +GARD:12616,Legacy,GARD,,,,,,,,,,,,Hypophosphatemia,FALSE,FALSE,Draft +GARD:12617,Legacy,GARD,,,,,,,,,,,,Leber's Hereditary Optic Neuropathy,FALSE,FALSE,Draft +GARD:12618,Legacy,GARD,,,,,,,,,,,,Venous angioma,FALSE,FALSE,Draft +GARD:12619,Legacy,GARD,,,,,,,,,,,,Arrhythmia syndrome,FALSE,FALSE,Draft +GARD:12620,Legacy,GARD,,,,,,,,,,,,Branch Retinal Artery Occlusion,FALSE,FALSE,Draft +GARD:12621,Active,Orphanet,ORPHA:369955,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblJ","[CblJ defects, Cobalamin J defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ, Methylmalonic aciduria with homocystinuria, type cblJ]",,[614857],,,,,Methylmalonic acidemia with homocystinuria type cblJ,TRUE,FALSE,Active +GARD:12622,Legacy,GARD,,,,,,,,,,,,Disorders of Intracellular Cobalamin Metabolism,TRUE,FALSE,Draft +GARD:12623,Active,Orphanet,ORPHA:28,Disorder,[Disease],Vitamin B12-responsive methylmalonic acidemia,"[Adenosylcobalamin deficiency, Vitamin B12-responsive methylmalonic aciduria]","An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).","[251110, 277410, 251100]",,,,,Adenosylcobalamin deficiency,TRUE,FALSE,Active +GARD:12624,Legacy,GARD,,,,,,,,,,,,Juvenile xanthogranuloma,FALSE,FALSE,Draft +GARD:12625,Legacy,GARD,,,,,,,,,,,,Chelitis,FALSE,FALSE,Draft +GARD:12627,Legacy,GARD,,,,,,,,,,,,Leucodistrofia metacromática,TRUE,TRUE,Active +GARD:12629,Legacy,GARD,,,,,,,,,,,,Rathke's cleft cyst,FALSE,FALSE,Draft +GARD:12630,Legacy,GARD,,,,,,,,,,,,NOG-related symphalangism spectrum disorder,FALSE,FALSE,Draft +GARD:12631,Active,Orphanet,ORPHA:140917,Disorder,[Malformation syndrome],Stapes ankylosis with broad thumbs and toes,[Teunissen-Cremers syndrome],"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.",[184460],,,,,Stapes ankylosis with broad thumbs and toes,TRUE,FALSE,Draft +GARD:12632,Active,Orphanet,ORPHA:289573,Group of disorders,[Clinical group],Multiple mitochondrial dysfunctions syndrome,,"Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.",,,,,,Multiple mitochondrial dysfunctions syndrome,TRUE,FALSE,Active +GARD:12633,Legacy,GARD,,,,,,,,,,,,Rare intellectual disability without developmental anomaly,TRUE,FALSE,Active +GARD:12634,Legacy,GARD,,,,,,,,,,,,Acute alcohol sensitivity ,TRUE,FALSE,Active +GARD:12635,Active,Orphanet,ORPHA:2377,Disorder,[Malformation syndrome],Laurence-Moon syndrome,,"A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.",[245800],,,,,Laurence-Moon syndrome,TRUE,FALSE,Active +GARD:12636,Legacy,GARD,,,,,,,,,,,,Laurence Moon syndrome,FALSE,FALSE,Retired +GARD:12637,Legacy,GARD,,,,,,,,,,,,Basilar invagination,FALSE,FALSE,Draft +GARD:12638,Active,Orphanet,ORPHA:183713,Disorder,[Disease],Bacterial susceptibility due to TLR signaling pathway deficiency,,"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.",[612260],,,,,MYD88 deficiency,TRUE,FALSE,Active +GARD:12639,Legacy,GARD,,,,,,,,,,,,Warfarin sensitivity,TRUE,FALSE,Active +GARD:12640,Active,Orphanet,ORPHA:306542,Disorder,[Malformation syndrome],Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,"[ALX1-related frontonasal dysplasia, Frontonasal dysplasia type 3]","Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.",[613456],,,,,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ,TRUE,FALSE,Active +GARD:12641,Active,Orphanet,ORPHA:228390,Disorder,[Malformation syndrome],Frontonasal dysplasia-alopecia-genital anomalies syndrome,"[ALX4-related FNDAG, Craniofrontonasal dysplasia with alopecia and hypogonadism, Frontonasal dysplasia type 2, Frontonasal dysplasia with alopecia and genital abnomality]","A rare syndromic frontonasal dysplasia characterized by frontonasal dysplasia associated with total alopecia, hypogonadism and mild to moderate intellectual disability. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip.",[613451],,,,,Frontonasal dysplasia with alopecia and genital anomaly,TRUE,FALSE,Active +GARD:12642,Active,Orphanet,ORPHA:391474,Disorder,[Malformation syndrome],Frontorhiny,"[ALX3-related frontonasal dysplasia, Frontonasal dysplasia type 1, Isolated median cleft face syndrome]","Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.",[136760],,,,,Frontorhiny,TRUE,FALSE,Active +GARD:12643,Active,Orphanet,ORPHA:294965,Group of disorders,[Clinical group],Lethal congenital contracture syndrome,[LCCS],"A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.",,,,,,Lethal congenital contracture syndrome ,TRUE,FALSE,Active +GARD:12644,Active,Orphanet,ORPHA:137783,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 3,[LCCS3],"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","[614915, 611369]",,,,,Lethal congenital contracture syndrome 3,TRUE,FALSE,Active +GARD:12645,Active,Orphanet+OMIM,OMIM:614915,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 4,,,[614915],[137783],[Lethal congenital contracture syndrome type 3],[12644],,Lethal congenital contracture syndrome 4,TRUE,FALSE,Active +GARD:12646,Legacy,GARD,,,,,,,,,,,,Filariasis,FALSE,FALSE,Draft +GARD:12647,Legacy,GARD,,,,,,,,,,,,Herpes simplex virus,FALSE,FALSE,Draft +GARD:12648,Active,Orphanet,ORPHA:91489,Disorder,[Morphological anomaly],Isolated congenital megalocornea,[Congenital anterior megalophthalmia],"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.",[309300],,,,,Isolated congenital megalocornea,TRUE,FALSE,Active +GARD:12649,Legacy,GARD,,,,,,,,,,,,Malignant melanoma of the mucosa,FALSE,FALSE,Active +GARD:1265,Legacy,GARD,,,,,,,,,,,,Abdominal chemodectomas with cutaneous angiolipomas,TRUE,FALSE,Active +GARD:12650,Active,Orphanet,ORPHA:68,Disorder,[Disease],Amoebiasis due to free-living amoebae,,"A rare parasitic disease caused by free-living amoebae belonging to the Acanthamoeba, Naegleria and Balamuthia genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals Acanthamoeba genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the Balamuthia genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the Naegleria fowleri species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.",,,,,,Amoebiasis due to free-living amoebae,TRUE,FALSE,Active +GARD:12651,Legacy,GARD,,,,,,,,,,,,Granulomatous Amebic Encephalitis,TRUE,FALSE,Active +GARD:12652,Active,Orphanet,ORPHA:137898,Disorder,[Disease],Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,"[LBSL, Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome]","This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.",[611105],,,,,Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ,TRUE,FALSE,Active +GARD:12653,Active,Orphanet,ORPHA:447737,Disorder,[Disease],DOCK2 deficiency,,"A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.",[616433],,,,,DOCK2 Deficiency,TRUE,FALSE,Active +GARD:12654,Legacy,GARD,,,,,,,,,,,,Baylisascaris infection ,TRUE,FALSE,Active +GARD:12655,Legacy,GARD,,,,,,,,,,,,Meningitis,FALSE,FALSE,Draft +GARD:12656,Active,Orphanet,ORPHA:160,Disorder,[Disease],Castleman disease,"[Angiofollicular ganglionic hyperplasia, Angiofollicular lymph hyperplasia]","A benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.",[148000],,,,,Castleman disease,TRUE,FALSE,Active +GARD:12657,Legacy,GARD,,,,,,,,,,,,Mucinous breast cancer,FALSE,FALSE,Draft +GARD:12658,Legacy,GARD,,,,,,,,,,,,Thornwaldt cyst,FALSE,FALSE,Draft +GARD:12659,Legacy,GARD,,,,,,,,,,,,Chromosome 9 Partial Trisomy,FALSE,FALSE,Draft +GARD:1266,Legacy,GARD,,,,,,,,,,,,Ho Kaufman Mcalister syndrome,TRUE,FALSE,Active +GARD:12660,Legacy,GARD,,,,,,,,,,,,Arteriovenous malformation,FALSE,FALSE,Draft +GARD:12661,Legacy,GARD,,,,,,,,,,,,Arteriovenous fistula,FALSE,FALSE,Draft +GARD:12662,Active,Orphanet,ORPHA:141189,Group of disorders,[Clinical group],Cerebrofacial arteriovenous metameric syndrome,[CAMS],"A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.",,,,,,Cerebrofacial arteriovenous metameric syndrome,TRUE,FALSE,Draft +GARD:12663,Active,Orphanet,ORPHA:156230,Group of disorders,[Clinical group],Facial arteriovenous malformation,,"Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.",,,,,,Facial arteriovenous malformation,TRUE,FALSE,Active +GARD:12664,Active,Orphanet,ORPHA:95699,Disorder,[Disease],Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,"[Congenital adrenal hyperplasia due to cytochrome POR deficiency, POR deficiency, PORD]","A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.",[613571],,,,,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,TRUE,FALSE,Active +GARD:12665,Active,Orphanet,ORPHA:90794,Disorder,[Disease],Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,[Classic 21-OHD CAH],"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.",[201910],,,,,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,TRUE,FALSE,Active +GARD:12666,Legacy,GARD,,,,,,,,,,,,Anemia aplásica ,TRUE,TRUE,Active +GARD:12667,Legacy,GARD,,,,,,,,,,,,Síndrome óculo-cerebro-renal,TRUE,TRUE,Active +GARD:12668,Legacy,GARD,,,,,,,,,,,,Siringomielia,TRUE,TRUE,Active +GARD:12669,Active,Orphanet,ORPHA:163937,Disorder,[Disease],"X-linked intellectual disability, Najm type","[MICPCH, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome]","Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.",[300749],,,,,"X-linked intellectual disability, Najm type",TRUE,FALSE,Active +GARD:12670,Legacy,GARD,,,,,,,,,,,,CASK-Related Disorders,TRUE,FALSE,Active +GARD:12671,Legacy,GARD,,,,,,,,,,,,Pernicious anemia,FALSE,FALSE,Active +GARD:12672,Legacy,GARD,,,,,,,,,,,,Asociación VACTERL,TRUE,TRUE,Active +GARD:12673,Active,Orphanet,ORPHA:254395,Disorder,[Disease],Actinic lichen planus,"[Actinic LP, Lichen planus actinus, Lichen planus subtropicus, Lichen planus tropicus, Lichenoid melanodermatitis, Summertime actinic lichenoid eruption]",A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.,,,,,,Actinic lichen planus,TRUE,FALSE,Active +GARD:12674,Active,Orphanet,ORPHA:254424,Disorder,[Disease],Annular lichen planus,[Annular LP],A rare variant of cutaneous lichen planus characterized by the development of annular lesions.,,,,,,Annular lichen planus,TRUE,FALSE,Active +GARD:12675,Active,Orphanet,ORPHA:254449,Disorder,[Disease],Atrophic lichen planus,[Atrophic LP],A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.,,,,,,Atrophic lichen planus,TRUE,FALSE,Active +GARD:12676,Active,Orphanet,ORPHA:254411,Disorder,[Disease],Annular atrophic lichen planus,[Annular atrophic LP],A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.,,,,,,Annular atrophic lichen planus,TRUE,FALSE,Active +GARD:12677,Active,Orphanet,ORPHA:254478,Disorder,[Disease],Lichen planus pemphigoides,[LP pemphigoides],Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).,,,,,,Lichen planus pemphigoides,TRUE,FALSE,Active +GARD:12678,Active,Orphanet,ORPHA:401859,Disorder,[Disease],Lipoic acid synthetase deficiency,,"Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.",[614462],,,,,Lipoic acid synthetase deficiency,TRUE,FALSE,Active +GARD:12679,Active,Orphanet,ORPHA:401854,Group of disorders,[Category],Lipoic acid biosynthesis defect,[Lipoate biosynthesis defect],,,,,,,Lipoic acid biosynthesis defects,TRUE,FALSE,Active +GARD:12680,Active,Orphanet,ORPHA:401862,Disorder,[Disease],Lipoyl transferase 1 deficiency,,"Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.",[616299],,,,,Lipoyl transferase 1 deficiency,TRUE,FALSE,Draft +GARD:12681,Active,Orphanet,ORPHA:401866,Disorder,[Disease],Childhood-onset spasticity with hyperglycinemia,"[Childhood-onset spasticity with variant non-ketotic hyperglycinemia, Spasticity-ataxia-gait anomalies syndrome]","Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.",[616859],,,,,Spasticity-ataxia-gait anomalies syndrome,TRUE,FALSE,Draft +GARD:12682,Active,Orphanet,ORPHA:2744,Disorder,[Disease],Horizontal gaze palsy with progressive scoliosis,"[HGPPS, Progressive external ophthalmoplegia and scoliosis]","Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.","[607313, 617542]",,,,,Horizontal gaze palsy with progressive scoliosis,TRUE,FALSE,Active +GARD:12683,Active,Orphanet,ORPHA:53739,Group of disorders,[Clinical group],Distal hereditary motor neuropathy,"[Distal spinal muscular atrophy, dHMN, dSMA]",,,,,,,Distal hereditary motor neuropathy,TRUE,FALSE,Active +GARD:12684,Active,Orphanet,ORPHA:391384,Disorder,[Disease],Familial episodic pain syndrome,[FEPS],"Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","[615552, 615040]",,,,,Familial episodic pain syndrome,TRUE,FALSE,Active +GARD:12685,Legacy,GARD,,,,,,,,,,,,Hereditary motor and sensory neuropathy,TRUE,FALSE,Active +GARD:12686,Active,Orphanet,ORPHA:79456,Disorder,[Disease],Diffuse cutaneous mastocytosis,"[DCM, Diffuse cutaneous maculopapulous mastocytosis]","Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).",,,,,,Diffuse cutaneous mastocytosis,TRUE,FALSE,Active +GARD:12687,Active,Orphanet,ORPHA:79455,Disorder,[Disease],Cutaneous mastocytoma,"[Cutaneous local mastocytoma, Multiple mastocytoma, Solitary mastocytoma]","Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.",,,,,,Cutaneous mastocytoma,TRUE,FALSE,Active +GARD:12688,Active,Orphanet,ORPHA:140471,Group of disorders,[Clinical group],Hereditary sensory and autonomic neuropathy,[HSAN],,,,,,,Hereditary sensory and autonomic neuropathy,TRUE,FALSE,Active +GARD:12689,Legacy,GARD,,,,,,,,,,,,Varicocele ,FALSE,FALSE,Draft +GARD:12690,Legacy,GARD,,,,,,,,,,,,Antithrombin deficiency,TRUE,FALSE,Retired +GARD:12691,Legacy,GARD,,,,,,,,,,,,Kashin–Beck disease,FALSE,FALSE,Draft +GARD:12692,Legacy,GARD,,,,,,,,,,,,Unspecified thrombocytopenia,FALSE,FALSE,Draft +GARD:12693,Legacy,GARD,,,,,,,,,,,,Chromosome 22 deletion,FALSE,FALSE,Draft +GARD:12694,Legacy,GARD,,,,,,,,,,,,Rectal leiomyoma,FALSE,FALSE,Draft +GARD:12695,Legacy,GARD,,,,,,,,,,,,Artritis idiopática juvenil,FALSE,TRUE,Active +GARD:12696,Legacy,GARD,,,,,,,,,,,,Myoclonic epilepsy,FALSE,FALSE,Draft +GARD:12697,Active,Orphanet,ORPHA:252057,Group of disorders,[Category],Tumor of cranial and spinal nerves,[Rare tumor of cranial and spinal nerves],,,,,,,Tumor of cranial and spinal nerves,TRUE,FALSE,Active +GARD:12698,Active,Orphanet,ORPHA:85102,Group of disorders,[Clinical group],Perineurioma,,,,,,,,Perineurioma,TRUE,FALSE,Active +GARD:12699,Legacy,GARD,,,,,,,,,,,,Aciduria 2-hidroxiglutárica,TRUE,TRUE,Active +GARD:127,Active,Orphanet,ORPHA:3210,Disorder,[Malformation syndrome],Summitt syndrome,,"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992.",[272350],,,,,Summitt syndrome,TRUE,FALSE,Retired +GARD:12700,Legacy,GARD,,,,,,,,,,,,Displasia mesomelica de Langer,TRUE,TRUE,Active +GARD:12701,Legacy,GARD,,,,,,,,,,,,Síndrome de Gorham,TRUE,TRUE,Active +GARD:12703,Active,Orphanet,ORPHA:2764,Disorder,[Disease],Osteochondritis dissecans,[König disease],"Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.",,,,,,Osteochondritis dissecans,TRUE,FALSE,Active +GARD:12704,Active,Orphanet,ORPHA:399319,Group of disorders,[Category],Osteochondrosis,,,,,,,,Osteochondrosis,TRUE,FALSE,Active +GARD:12705,Legacy,GARD,,,,,,,,,,,,Collagen VI related muscular dystrophy ,TRUE,FALSE,Active +GARD:12706,Active,Orphanet,ORPHA:617440,Disorder,[Clinical syndrome],Painful legs and moving toes syndrome,[PLMT syndrome],,,,,,,Painful legs and moving toes syndrome,TRUE,FALSE,Active +GARD:12707,Legacy,GARD,,,,,,,,,,,,Congenital heart malformation,FALSE,FALSE,Active +GARD:12708,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability 63,FALSE,FALSE,Draft +GARD:12709,Legacy,GARD,,,,,,,,,,,,Combined hamartoma of the retina and the retinal pigment epithelium,FALSE,FALSE,Draft +GARD:12710,Legacy,GARD,,,,,,,,,,,,Chromosome 3 deletion,FALSE,FALSE,Draft +GARD:12711,Legacy,GARD,,,,,,,,,,,,Shewanella,FALSE,FALSE,Draft +GARD:12712,Legacy,GARD,,,,,,,,,,,,Parálisis congénita de la laringe,TRUE,TRUE,Active +GARD:12713,Active,Orphanet,ORPHA:137932,Disorder,[Malformation syndrome],Congenital laryngeal palsy,[Congenital vocal cord paralysis],"Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.",,,,,,Congenital laryngeal palsy,TRUE,FALSE,Active +GARD:12714,Legacy,GARD,,,,,,,,,,,,Síndrome de Angelman ,TRUE,TRUE,Active +GARD:12715,Active,Orphanet,ORPHA:457260,Disorder,[Disease],X-linked intellectual disability-hypotonia-movement disorder syndrome,,"A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.",[300958],,,,,DDX3X-related intellectual disability,TRUE,FALSE,Active +GARD:12716,Active,Orphanet,ORPHA:228240,Disorder,[Disease],Elastoderma,,"An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.",,,,,,Elastoderma,TRUE,FALSE,Active +GARD:12718,Active,Orphanet,ORPHA:169186,Disorder,[Disease],Autosomal recessive centronuclear myopathy,[AR-CNM],"A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.","[615959, 255200]",,,,,Autosomal recessive centronuclear myopathy,TRUE,FALSE,Active +GARD:12719,Active,Orphanet,ORPHA:169189,Disorder,[Disease],Autosomal dominant centronuclear myopathy,[AD-CNM],"A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.",[160150],,,,,Autosomal dominant centronuclear myopathy,TRUE,FALSE,Active +GARD:12720,Active,Orphanet,ORPHA:97232,Disorder,[Disease],Fingerprint body myopathy,,"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.",[305550],,,,,Fingerprint body myopathy,TRUE,FALSE,Active +GARD:12721,Legacy,GARD,,,,,,,,,,,,Warfarin resistance,TRUE,FALSE,Active +GARD:12722,Active,Orphanet,ORPHA:324588,Disorder,[Disease],Familial dyskinesia and facial myokymia,[FDFM],"Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.",[606703],,,,,ADCY5-related dyskinesia ,TRUE,FALSE,Active +GARD:12723,Legacy,GARD,,,,,,,,,,,,Síndrome de Wolf-Hirschhorn,TRUE,TRUE,Active +GARD:12724,Active,Orphanet,ORPHA:98892,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia,[PVNH],"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.","[612881, 300049, 617201, 618185, 618918, 608098, 608097, 615544]",,,,,Periventricular heterotopia,TRUE,FALSE,Active +GARD:12725,Legacy,GARD,,,,,,,,,,,,Heterotopia nodular periventricular,TRUE,TRUE,Active +GARD:12726,Legacy,GARD,,,,,,,,,,,,Deficiencia del transportador de riboflavina,TRUE,TRUE,Active +GARD:12729,Legacy,GARD,,,,,,,,,,,,Autosomal dominant hereditary sensory and autonomic neuropathy,FALSE,FALSE,Draft +GARD:12730,Legacy,GARD,,,,,,,,,,,,Autosomal recessive hereditary sensory and autonomic neuropathy,FALSE,FALSE,Draft +GARD:12731,Active,Orphanet,ORPHA:139583,Disorder,[Disease],X-linked hereditary sensory and autonomic neuropathy with deafness,"[X-linked HSAN with deafness, X-linked HSAN with hearing loss, X-linked auditory neuropathy with peripheral sensory neuropathy type 1, X-linked hereditary sensory and autonomic neuropathy with hearing loss]",This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.,[300614],,,,,X-linked hereditary sensory and autonomic neuropathy with deafness,TRUE,FALSE,Active +GARD:12732,Active,Orphanet,ORPHA:391397,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 7,"[CIP with hyperhidrosis and gastrointestinal dysfunction, Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction, HSAN with hyperhidrosis and gastrointestinal dysfunction, HSAN7, Hereditary sensory and autonomic neuropathy type VII, Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction]","A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.",[615548],,,,,Hereditary sensory and autonomic neuropathy type 7,TRUE,FALSE,Active +GARD:12733,Active,Orphanet,ORPHA:207015,Group of disorders,[Category],Rare hereditary disease with peripheral neuropathy,,,,,,,,Rare hereditary disease with peripheral neuropathy,TRUE,FALSE,Draft +GARD:12734,Legacy,GARD,,,,,,,,,,,,Peripheral resistance to thyroid hormones,TRUE,FALSE,Active +GARD:12735,Legacy,GARD,,,,,,,,,,,,Secondary adrenal insufficiency,TRUE,FALSE,Active +GARD:12736,Active,Orphanet,ORPHA:93548,Group of disorders,[Category],Glomerular disease,,,,,,,,Glomerular disease,TRUE,FALSE,Draft +GARD:12737,Legacy,GARD,,,,,,,,,,,,Basement membrane disease,TRUE,FALSE,Draft +GARD:12738,Legacy,GARD,,,,,,,,,,,,Primary glomerular disease,FALSE,FALSE,Draft +GARD:12739,Legacy,GARD,,,,,,,,,,,,Secondary glomerular disease,TRUE,FALSE,Draft +GARD:1274,Active,Orphanet,ORPHA:2888,Disorder,[Malformation syndrome],Pierre Robin syndrome-faciodigital anomaly syndrome,"[Chitayat-Meunier-Hodgkinson syndrome, Pierre Robin sequence-faciodigital anomaly syndrome]","A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.",[311895],,,,,Chitayat Meunier Hodgkinson syndrome,TRUE,FALSE,Active +GARD:12740,Active,Orphanet,ORPHA:97566,Disorder,[Disease],Non-amyloid fibrillary glomerulopathy,"[Congo red-negative amyloidosis-like glomerulopathy, Non-amyloid fibrillary glomerulonephritis]","Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases.",,,,,,Fibrillary glomerulonephritis ,TRUE,FALSE,Active +GARD:12741,Active,Orphanet,ORPHA:91137,Group of disorders,[Clinical group],Immunotactoid or fibrillary glomerulopathy,[Immunotactoid or fibrillary glomerulonephritis],"Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.",,,,,,Immunotactoid or fibrillary glomerulopathy,TRUE,FALSE,Active +GARD:12742,Active,Orphanet,ORPHA:93568,Disorder,[Disease],Juvenile polymyositis,[Juvenile PM],"A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.",,,,,,Juvenile polymyositis,TRUE,FALSE,Active +GARD:12743,Legacy,GARD,,,,,,,,,,,,ACTG2-related disorders ,TRUE,FALSE,Active +GARD:12744,Active,Orphanet,ORPHA:2978,Disorder,[Clinical syndrome],Chronic intestinal pseudoobstruction,[CIPO],"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.","[300048, 243180, 609629, 601223]",,,,,Chronic intestinal pseudoobstruction,TRUE,FALSE,Active +GARD:12745,Legacy,GARD,,,,,,,,,,,,Síndrome de megavejiga - microcolon - hipoperistaltismo intestinal ,TRUE,TRUE,Active +GARD:12746,Legacy,GARD,,,,,,,,,,,,Cystoid macular edema ,FALSE,FALSE,Draft +GARD:12747,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - autosomal dominant inheritance,TRUE,FALSE,Draft +GARD:12748,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - autosomal recessive inheritance,TRUE,FALSE,Draft +GARD:12749,Active,Orphanet,ORPHA:171622,Disorder,[Disease],Autosomal recessive spastic paraplegia type 32,[SPG32],"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.",[611252],,,,,Spastic paraplegia 32,TRUE,FALSE,Active +GARD:1275,Legacy,GARD,,,,,,,,,,,,"Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis",TRUE,FALSE,Retired +GARD:12750,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - X-linked inheritance,TRUE,FALSE,Draft +GARD:12751,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia – maternal inheritance,TRUE,FALSE,Draft +GARD:12752,Legacy,GARD,,,,,,,,,,,,Occupational lung diseases,FALSE,FALSE,Active +GARD:12753,Legacy,GARD,,,,,,,,,,,,Pneumoconiosis,FALSE,FALSE,Active +GARD:12754,Legacy,GARD,,,,,,,,,,,,Hypertrichosis universalis,TRUE,FALSE,Active +GARD:12755,Legacy,GARD,,,,,,,,,,,,"Parasitic Infection, organism unknown",FALSE,FALSE,Draft +GARD:12756,Legacy,GARD,,,,,,,,,,,,Exfoliative cheilitis,FALSE,FALSE,Draft +GARD:12757,Active,Orphanet,ORPHA:519,Group of disorders,[Clinical group],Acute myeloid leukemia,"[AML, Acute myelogenous leukemia]","A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.",[601626],,,,,Acute myeloid leukemia ,TRUE,FALSE,Active +GARD:12758,Active,Orphanet,ORPHA:98277,Group of disorders,[Category],Acute myeloid leukemia with recurrent genetic anomaly,[AML with recurrent genetic anomaly],,[601626],,,,,Acute myeloid leukemia with recurrent genetic anomaly,TRUE,FALSE,Active +GARD:12759,Active,Orphanet,ORPHA:402020,Disorder,[Disease],Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),[AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.",,,,,,Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),TRUE,FALSE,Active +GARD:12760,Active,Orphanet,ORPHA:167714,Group of disorders,[Category],Unclassified acute myeloid leukemia,[Unclassified AML],,[601626],,,,,Unclassified acute myeloid leukemia ,TRUE,FALSE,Active +GARD:12761,Active,Orphanet,ORPHA:86845,Disorder,[Disease],Acute myeloid leukaemia with myelodysplasia-related features,"[AML with multilineage dysplasia, AML with myelodysplasia-related features, Acute myeloid leukemia with multilineage dysplasia]","A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.",[601626],,,,,AML with myelodysplasia-related features ,TRUE,FALSE,Active +GARD:12762,Active,Orphanet,ORPHA:86846,Group of disorders,[Category],Therapy related acute myeloid leukemia and myelodysplastic syndrome,"[Secondary AML, Secondary acute myeloid leukemia, Therapy-related AML and myelodysplastic syndrome]",,[601626],,,,,Therapy related acute myeloid leukemia and myelodysplastic syndrome,TRUE,FALSE,Active +GARD:12763,Active,Orphanet,ORPHA:86850,Disorder,[Disease],Myeloid sarcoma,"[Chloroma, Extramedullary myeloid tumor, Granulocytic sarcoma]",Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.,,,,,,Myeloid sarcoma,TRUE,FALSE,Active +GARD:12764,Legacy,GARD,,,,,,,,,,,,Myeloid proliferations related to Down syndrome,TRUE,FALSE,Active +GARD:12765,Active,Orphanet,ORPHA:420611,Disorder,[Disease],Transient myeloproliferative syndrome,"[TMD, Transient abnormal myelopoiesis, Transient myeloproliferative disease]","A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.",[159595],,,,,Transient myeloproliferative syndrome,TRUE,FALSE,Active +GARD:12766,Active,Orphanet,ORPHA:217377,Disorder,[Malformation syndrome],Microduplication Xp11.22p11.23 syndrome,"[Dup(X)(p11.22p11.23), Trisomy Xp11.22p11.23]",Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.,[300801],,,,,Microduplication Xp11.22-p11.23 syndrome,TRUE,FALSE,Active +GARD:12767,Legacy,GARD,,,,,,,,,,,,Preaxial polydactyly of fingers,TRUE,FALSE,Active +GARD:12768,Active,Orphanet,ORPHA:284388,Disorder,[Clinical syndrome],Reversible cerebral vasoconstriction syndrome,[RCVS],"A rare cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischemic or hemorrhagic stroke.",,,,,,Reversible cerebral vasoconstriction syndrome,TRUE,FALSE,Active +GARD:12769,Legacy,GARD,,,,,,,,,,,,Central polydactyly of fingers,FALSE,FALSE,Active +GARD:1277,Legacy,GARD,,,,,,,,,,,,Chitty Hall Webb syndrome,TRUE,FALSE,Active +GARD:12770,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly of toes ,FALSE,FALSE,Active +GARD:12771,Legacy,GARD,,,,,,,,,,,,Preaxial polydactyly of toes,FALSE,FALSE,Active +GARD:12772,Active,Orphanet,ORPHA:180257,Group of disorders,[Category],Rare malignant breast tumor,[Rare breast cancer],,,,,,,Rare malignant breast tumor,TRUE,FALSE,Draft +GARD:12773,Active,Orphanet,ORPHA:213528,Disorder,[Disease],Rare adenocarcinoma of the breast,,"A rare malignant breast tumor disease encompassing special rare types of adenocarcinoma of the breast, i.e. tubular adenocarcinoma, mucinous carcinoma, medullary carcinoma NOS, papillary adenocarcinoma NOS, cribriform carcinoma, apocrine adenocarcinoma, secretory carcinoma, glycogen-rich clear cell carcinoma, lipid-rich carcinoma, and oncocytic carcinoma.",,,,,,Rare adenocarcinoma of the breast,TRUE,FALSE,Active +GARD:12774,Active,Orphanet,ORPHA:213557,Disorder,[Disease],Salivary gland type cancer of the breast,[Salivary gland type carcinoma of the breast],"Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.",,,,,,Salivary gland type cancer of the breast,TRUE,FALSE,Active +GARD:12775,Active,Orphanet,ORPHA:180253,Group of disorders,[Category],Rare benign breast tumor,,,,,,,,Rare benign breast tumor,TRUE,FALSE,Draft +GARD:12776,Legacy,GARD,,,,,,,,,,,,Carcinoma of unknown primary site,FALSE,FALSE,Draft +GARD:12777,Active,Orphanet,ORPHA:300496,Disorder,[Malformation syndrome],Multiple congenital anomalies-hypotonia-seizures syndrome type 2,[MCAHS type 2],"A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.",[300868],,,,,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,TRUE,FALSE,Active +GARD:12778,Legacy,GARD,,,,,,,,,,,,Acute liver failure,FALSE,FALSE,Draft +GARD:12779,Active,Orphanet,ORPHA:284247,Disorder,[Malformation syndrome],Familial retinal arterial macroaneurysm,"[FRAM, Retinal arterial macroaneurysm and supravalvular pulmonic stenosis]","Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.",[614224],,,,,Retinal arterial macroaneurysm with supravalvular pulmonic stenosis,TRUE,FALSE,Active +GARD:12780,Legacy,GARD,,,,,,,,,,,,Síndrome de Nance-Horan,TRUE,TRUE,Active +GARD:12781,Active,Orphanet,ORPHA:280633,Disorder,[Malformation syndrome],Multiple congenital anomalies-hypotonia-seizures syndrome,"[Congenital disorder of glycosylation due to PIGN deficiency, PIGN-CDG]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.",[614080],,,,,Multiple congenital anomalies-hypotonia-seizures syndrome,TRUE,FALSE,Active +GARD:12782,Active,Orphanet,ORPHA:371235,Group of disorders,[Category],Congenital disorder of glycosylation with developmental anomaly,[CDG with developmental anomaly],,,,,,,Congenital disorder of glycosylation with developmental anomaly,TRUE,FALSE,Active +GARD:12783,Legacy,GARD,,,,,,,,,,,,PIGA deficiency,TRUE,FALSE,Draft +GARD:12784,Active,Orphanet,ORPHA:542643,Disorder,[Clinical syndrome],Livedoid vasculopathy,"[Livedo reticularis with summer ulcerations, Milian atrophie blanche, Segmental hyalinizing vasculitis]","A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.",,,,,,Livedoid vasculopathy,TRUE,FALSE,Active +GARD:12785,Legacy,GARD,,,,,,,,,,,,Mosaic tetrasomy 13,FALSE,FALSE,Draft +GARD:12786,Legacy,GARD,,,,,,,,,,,,Polimiositis,TRUE,TRUE,Active +GARD:12787,Legacy,GARD,,,,,,,,,,,,Síndrome de Goodpasture,TRUE,TRUE,Active +GARD:12788,Legacy,GARD,,,,,,,,,,,,JC virus,FALSE,FALSE,Draft +GARD:12789,Legacy,GARD,,,,,,,,,,,,Síndrome de triple A,TRUE,TRUE,Active +GARD:12790,Legacy,GARD,,,,,,,,,,,,Oligodontia,FALSE,FALSE,Draft +GARD:12791,Legacy,GARD,,,,,,,,,,,,Mucinous adenocarcinoma of the fistula,FALSE,FALSE,Draft +GARD:12792,Legacy,GARD,,,,,,,,,,,,Juvenile ossifying fibroma ,TRUE,FALSE,Active +GARD:12793,Legacy,GARD,,,,,,,,,,,,COL4A1-Related Disorder,FALSE,FALSE,Draft +GARD:12794,Active,Orphanet,ORPHA:89842,Disorder,[Disease],"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","[Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis, Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type, Generalized RDEB, intermediate form, RDEB, non-Hallopeau-Siemens type]",A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.,,,,,,Recessive dystrophic epidermolysis bullosa-generalized other,TRUE,FALSE,Active +GARD:12795,Legacy,GARD,,,,,,,,,,,,Recessive dystrophic epidermolysis bullosa ,TRUE,FALSE,Active +GARD:12796,Active,Orphanet,ORPHA:166260,Subtype of disorder,[Clinical subtype],Dentinogenesis imperfecta type 2,"[Capdepont teeth, DGI-2, DI-2, Dentinogenesis imperfecta, Shields type 2]","Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.","[605594, 125490]",,,,,Dentinogenesis imperfecta type 2,TRUE,FALSE,Active +GARD:12797,Legacy,GARD,,,,,,,,,,,,Dentinogenesis imperfecta type 1,TRUE,FALSE,Draft +GARD:12798,Active,Orphanet,ORPHA:1020,Disorder,[Disease],Early-onset autosomal dominant Alzheimer disease,"[EOFAD, Early-onset familial autosomal dominant Alzheimer disease, Familial Alzheimer disease]","Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.","[104310, 606889, 605526, 604154, 611152, 605055, 607116, 611073, 606187, 609636, 607822, 609790, 611154, 602096, 104300]",,,,,"Early-onset, autosomal dominant Alzheimer disease",TRUE,FALSE,Active +GARD:12799,Active,Orphanet+OMIM,OMIM:104310,Subtype of disorder,[Disease subtype],Alzheimer disease 2,"[Alzheimer disease 2, late-onset, alzheimer disease associated with apoe4]",,[104310],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Late-Onset Familial Alzheimer Disease,TRUE,FALSE,Active +GARD:1280,Active,Orphanet,ORPHA:171,Disorder,[Disease],Primary sclerosing cholangitis,[PSC],"Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.","[602114, 613806]",,,,,Primary sclerosing cholangitis,TRUE,FALSE,Active +GARD:12800,Active,Orphanet,ORPHA:306498,Group of disorders,[Clinical group],PTEN hamartoma tumor syndrome,[PHTS],"A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.",,,,,,PTEN hamartoma tumor syndrome,TRUE,FALSE,Active +GARD:12801,Active,Orphanet,ORPHA:2969,Disorder,[Disease],Proteus-like syndrome,,Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.,[158350],,,,,Proteus-like syndrome,TRUE,FALSE,Active +GARD:12802,Legacy,GARD,,,,,,,,,,,,Crystal arthropathies ,FALSE,FALSE,Active +GARD:12803,Legacy,GARD,,,,,,,,,,,,Phaeohyphomycosis,TRUE,FALSE,Active +GARD:12804,Legacy,GARD,,,,,,,,,,,,Linfangiectasia intestinal primaria,TRUE,TRUE,Draft +GARD:12806,Active,Orphanet,ORPHA:1797,Disorder,[Malformation syndrome],Autosomal dominant spondylocostal dysostosis,[Autosomal dominant spondylocostal dysplasia],"A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.",[122600],,,,,Spondylocostal dysostosis 5,TRUE,FALSE,Active +GARD:12807,Active,Orphanet+OMIM,OMIM:616566,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 6, autosomal recessive",,,[616566],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 6,TRUE,FALSE,Active +GARD:12808,Legacy,GARD,,,,,,,,,,,,Enfermedad de Krabbe ,TRUE,TRUE,Active +GARD:12809,Legacy,GARD,,,,,,,,,,,,Neumotorax catamenial,TRUE,TRUE,Active +GARD:12810,Legacy,GARD,,,,,,,,,,,,Pyruvate dehydrogenase E3-binding protein deficiency,FALSE,FALSE,Draft +GARD:12811,Active,Orphanet,ORPHA:404463,Disorder,[Disease],Multisystemic smooth muscle dysfunction syndrome,,"Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.",[613834],,,,,Multisystemic smooth muscle dysfunction syndrome,TRUE,FALSE,Active +GARD:12812,Legacy,GARD,,,,,,,,,,,,Hepatosplenic gamma delta T-cell lymphoma,FALSE,FALSE,Draft +GARD:12813,Legacy,GARD,,,,,,,,,,,,Pustular psoriasis,TRUE,FALSE,Active +GARD:12814,Active,Orphanet,ORPHA:508488,Disorder,[Malformation syndrome],8q24.3 microdeletion syndrome,"[Del(8)(q24.3), Deletion 8q24.3, Monosomy 8q24.3, Verheij syndrome]","A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.",[615583],,,,,Chromosome 8q24.3 deletion syndrome,TRUE,FALSE,Active +GARD:12815,Active,Orphanet,ORPHA:363686,Disorder,[Disease],Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,,"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.",[615074],,,,,GATAD2B-associated neurodevelopmental disorder,TRUE,FALSE,Active +GARD:12816,Active,Orphanet,ORPHA:228399,Disorder,[Malformation syndrome],8q12 microduplication syndrome,"[Dup(8)(q12), Trisomy 8q12]","The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).",,,,,,8q12 microduplication syndrome,TRUE,FALSE,Active +GARD:12817,Legacy,GARD,,,,,,,,,,,,Síndrome de Cockayne ,TRUE,TRUE,Active +GARD:12819,Active,Orphanet,ORPHA:247353,Disorder,[Disease],Generalized pustular psoriasis,[GPP],"Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.","[614204, 616106]",,,,,Generalized pustular psoriasis,TRUE,FALSE,Active +GARD:12820,Active,Orphanet,ORPHA:163927,Disorder,[Disease],Pustulosis palmaris et plantaris,"[LPP, Localized pustular psoriasis, PPP, Palmoplantar pustulosis]","A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.",,,,,,Pustulosis palmaris et plantaris,TRUE,FALSE,Active +GARD:12821,Active,Orphanet,ORPHA:171430,Disorder,[Disease],Severe congenital nemaline myopathy,,Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.,"[615731, 161800, 615348, 616165, 256030]",,,,,Severe congenital nemaline myopathy,TRUE,FALSE,Active +GARD:12822,Active,Orphanet,ORPHA:171436,Disorder,[Disease],Typical nemaline myopathy,,Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.,"[615731, 610687, 609285, 161800, 616165, 256030]",,,,,Typical congenital nemaline myopathy ,TRUE,FALSE,Active +GARD:12823,Active,Orphanet,ORPHA:171433,Disorder,[Disease],Intermediate nemaline myopathy,,Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.,"[615731, 609284, 161800, 256030]",,,,,Intermediate congenital nemaline myopathy,TRUE,FALSE,Active +GARD:12824,Active,Orphanet,ORPHA:171442,Disorder,[Disease],Adult-onset nemaline myopathy,,A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.,,,,,,Adult-onset nemaline myopathy,TRUE,FALSE,Active +GARD:12825,Active,Orphanet,ORPHA:561854,Disorder,[Disease],FOXG1 syndrome,[FOXG1-related epileptic-dyskinetic encephalopathy],"A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.",,,,,,FOXG1 syndrome,TRUE,FALSE,Active +GARD:12826,Legacy,GARD,,,,,,,,,,,,GATAD2B associated neurodevelopment disorder,FALSE,FALSE,Retired +GARD:12827,Active,Orphanet,ORPHA:69735,Disorder,[Disease],Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,[Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome],"An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.","[607823, 137940]",,,,,Hypotrichosis-lymphedema-telangiectasia syndrome,TRUE,FALSE,Active +GARD:12828,Legacy,GARD,,,,,,,,,,,,Enfermedad celiaca,TRUE,TRUE,Active +GARD:12829,Active,Orphanet,ORPHA:411703,Disorder,[Disease],Pulmonary non-tuberculous mycobacterial infection,[Non-tuberculous mycobacterial lung disease],"A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.",,,,,,Nontuberculous mycobacterial lung disease,TRUE,FALSE,Active +GARD:12830,Legacy,GARD,,,,,,,,,,,,Intellectual disability due to a single gene mutation,FALSE,FALSE,Active +GARD:12831,Legacy,GARD,,,,,,,,,,,,Myosinopathies,TRUE,FALSE,Active +GARD:12832,Active,Orphanet+OMIM,OMIM:613426,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1s",,,[613426],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy-1S ,TRUE,FALSE,Active +GARD:12833,Legacy,GARD,,,,,,,,,,,,FGFR-Related Craniosynostosis Syndromes,TRUE,FALSE,Draft +GARD:12834,Legacy,GARD,,,,,,,,,,,,Síndromes de craneosinostosis asociados al gen FGFR,TRUE,TRUE,Internal +GARD:12835,Active,Orphanet,ORPHA:79126,Disorder,[Disease],Acute interstitial pneumonia,"[Acute interstitial pneumonitis, Hamman-Rich syndrome]",A rare rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.,[178500],,,,,Acute interstitial pneumonia,TRUE,FALSE,Active +GARD:12836,Legacy,GARD,,,,,,,,,,,,PURA syndrome,TRUE,FALSE,Active +GARD:12837,Legacy,GARD,,,,,,,,,,,,Síndrome de Seckel,TRUE,TRUE,Active +GARD:12838,Legacy,GARD,,,,,,,,,,,,Microcefalia primaria autosómica recesiva,TRUE,TRUE,Active +GARD:12839,Legacy,GARD,,,,,,,,,,,,Heterotopic ossification,FALSE,FALSE,Draft +GARD:12840,Legacy,GARD,,,,,,,,,,,,Leiomiomatosis hereditaria y cáncer de células renales,TRUE,TRUE,Active +GARD:12841,Legacy,GARD,,,,,,,,,,,,Pervasive arousal withdrawal syndrome,FALSE,FALSE,Draft +GARD:12842,Legacy,GARD,,,,,,,,,,,,Esclerosis múltiple ,FALSE,TRUE,Active +GARD:12843,Active,Orphanet,ORPHA:71274,Disorder,[Disease],Disseminated peritoneal leiomyomatosis,"[DPL, Diffuse peritoneal leiomyomatosis, LPD, Leiomyomatosis peritonealis disseminate]",Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.,,,,,,Disseminated peritoneal leiomyomatosis,TRUE,FALSE,Active +GARD:12844,Active,Orphanet,ORPHA:363396,Disorder,[Disease],High myopia-sensorineural deafness syndrome,[High myopia-sensorineural hearing loss syndrome],"High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.",[221200],,,,,Deafness and myopia syndrome,TRUE,FALSE,Active +GARD:12845,Active,Orphanet,ORPHA:444077,Disorder,[Malformation syndrome],Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,[CHOPS syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.",[616368],,,,,CHOPS syndrome,TRUE,FALSE,Active +GARD:12846,Legacy,GARD,,,,,,,,,,,,Berardinelli-Seip congenital ,TRUE,FALSE,Draft +GARD:12847,Legacy,GARD,,,,,,,,,,,,"Displasia ectodérmica, hipohidrosis e hipotiroidismo",TRUE,TRUE,Active +GARD:12848,Legacy,GARD,,,,,,,,,,,,Síndrome de Griscelli,TRUE,TRUE,Active +GARD:12849,Legacy,GARD,,,,,,,,,,,,Dissociative Identity Disorder,FALSE,FALSE,Draft +GARD:12850,Legacy,GARD,,,,,,,,,,,,ARID1B-related intellectual disability,TRUE,FALSE,Draft +GARD:12851,Active,Orphanet+OMIM,OMIM:613970,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 6, with or without seizures","[Mental retardation, autosomal dominant 6, with or without seizures]","MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {7:Platzer et al., 2017}).",[613970],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,GRIN2B related syndrome,TRUE,FALSE,Active +GARD:12852,Legacy,GARD,,,,,,,,,,,,MBD25–related intellectual disability,TRUE,FALSE,Active +GARD:12853,Legacy,GARD,,,,,,,,,,,,MED23-related intellectual disability,FALSE,FALSE,Draft +GARD:12854,Active,Orphanet,ORPHA:46348,Disorder,[Disease],Paroxysmal extreme pain disorder,[Familial rectal pain],"A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.",[167400],,,,,Paroxysmal extreme pain disorder,TRUE,FALSE,Active +GARD:12855,Legacy,GARD,,,,,,,,,,,,Vestibular migraine,FALSE,FALSE,Retired +GARD:12856,Legacy,GARD,,,,,,,,,,,,Trigeminal trophic syndrome,TRUE,FALSE,Active +GARD:12857,Legacy,GARD,,,,,,,,,,,,Enfermedad de Menkes,TRUE,TRUE,Active +GARD:12858,Legacy,GARD,,,,,,,,,,,,Autosomal Dominant Cerebellar Ataxias,FALSE,FALSE,Retired +GARD:12859,Legacy,GARD,,,,,,,,,,,,Autosomal Recessive Cerebellar Ataxias,FALSE,FALSE,Draft +GARD:12860,Active,Orphanet,ORPHA:64753,Disorder,[Disease],Spinocerebellar ataxia with axonal neuropathy type 2,"[AOA2, Ataxia-oculomotor apraxia type 2, SCAN 2, SCAR1]","A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.","[615217, 606002]",,,,,Ataxia with Oculomotor Apraxia Type 2,TRUE,FALSE,Active +GARD:12861,Active,Orphanet,ORPHA:572550,Subtype of disorder,[Clinical subtype],RFVT3-related riboflavin transporter deficiency,"[RTD3, Riboflavin transporter deficiency 3]",,[614707],,,,,"Brown-Vialetto-Van Laere syndrome 2 ",TRUE,FALSE,Active +GARD:12862,Active,Orphanet,ORPHA:263543,Disorder,[Disease],Generalized peeling skin syndrome,"[Generalized PSS, Generalized deciduous skin]","Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.","[616265, 270300]",,,,,Generalized peeling skin syndrome,TRUE,FALSE,Active +GARD:12863,Active,Orphanet,ORPHA:263534,Disorder,[Disease],Acral peeling skin syndrome,"[Acral PSS, Acral deciduous skin, Localized PSS, Localized deciduous skin]",A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.,[609796],,,,,Acral peeling skin syndrome,TRUE,FALSE,Active +GARD:12864,Active,Orphanet,ORPHA:140905,Disorder,[Disease],Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,"[Hyperlipidemia due to HL deficiency, Hyperlipidemia due to HTGL deficiency, Hyperlipidemia due to hepatic lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency]","Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.",[614025],,,,,Hepatic lipase deficiency,TRUE,FALSE,Active +GARD:12865,Legacy,GARD,,,,,,,,,,,,Anemia diseritropoyética congénita tipo 1,TRUE,TRUE,Active +GARD:12867,Active,Orphanet,ORPHA:96253,Disorder,[Disease],Cushing disease,"[Corticotroph pituitary adenoma, Pituitary corticotroph micro-adenoma, Pituitary-dependent Cushing syndrome]",Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.,[219090],,,,,ACTH-secreting pituitary adenoma,TRUE,FALSE,Active +GARD:12868,Active,Orphanet,ORPHA:209943,Disorder,[Disease],IRVAN syndrome,[Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome],"A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.",,,,,,IRVAN syndrome,TRUE,FALSE,Active +GARD:12869,Legacy,GARD,,,,,,,,,,,,Anemia diseritropoyética congénita,TRUE,TRUE,Active +GARD:12870,Legacy,GARD,,,,,,,,,,,,Deficiencia de alfa-1 antitripsina,TRUE,TRUE,Active +GARD:12871,Legacy,GARD,,,,,,,,,,,,Síndrome de la arteria mesentérica superior,TRUE,TRUE,Active +GARD:12872,Legacy,GARD,,,,,,,,,,,,Hypothyroidism,FALSE,FALSE,Draft +GARD:12873,Legacy,GARD,,,,,,,,,,,,spinocerebellar degeneration,FALSE,FALSE,Draft +GARD:12874,Active,Orphanet+OMIM,OMIM:613848,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type x","[Oi, type x]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera ({1:Christiansen et al., 2010}).",[613848],[216812],[Osteogenesis imperfecta type 3],[8695],,Osteogenesis imperfecta type X,TRUE,FALSE,Active +GARD:12875,Active,Orphanet+OMIM,OMIM:610968,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xi","[Oi, type xi]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by {1:Alanay et al., 2010}).",[610968],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,Osteogenesis imperfecta type XI,TRUE,FALSE,Active +GARD:12876,Legacy,GARD,,,,,,,,,,,,preterm labor,FALSE,FALSE,Draft +GARD:12877,Legacy,GARD,,,,,,,,,,,,Enfermedad de Alexander,TRUE,TRUE,Active +GARD:12878,Legacy,GARD,,,,,,,,,,,,occipital neuralgia,FALSE,FALSE,Draft +GARD:12879,Legacy,GARD,,,,,,,,,,,,Hereditary palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:1288,Active,Orphanet,ORPHA:79304,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 2,"[BSEP deficiency, PFIC2]","Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.","[615878, 601847]",,,,,Progressive familial intrahepatic cholestasis type 2,TRUE,FALSE,Active +GARD:12880,Legacy,GARD,,,,,,,,,,,,Diffuse palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12881,Legacy,GARD,,,,,,,,,,,,Disease with diffuse palmoplantar keratoderma as a major feature,FALSE,FALSE,Draft +GARD:12882,Legacy,GARD,,,,,,,,,,,,Isolated diffuse palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12883,Legacy,GARD,,,,,,,,,,,,Focal palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12885,Legacy,GARD,,,,,,,,,,,,Isolated focal palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12886,Legacy,GARD,,,,,,,,,,,,Punctate palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12887,Legacy,GARD,,,,,,,,,,,,Disease with punctate palmoplantar keratoderma as a major feature,FALSE,FALSE,Draft +GARD:12888,Legacy,GARD,,,,,,,,,,,,Isolated punctate palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12889,Active,Orphanet,ORPHA:209908,Disorder,[Disease],Isolated childhood apraxia of speech,"[Isolated CAS, Isolated developmental verbal dyspraxia, Pure CAS, Pure childhood apraxia of speech, Speech and language disorder with orofacial dyspraxia, Speech-language disorder type 1]","A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.",[602081],,,,,Childhood apraxia of speech,TRUE,FALSE,Active +GARD:1289,Active,Orphanet,ORPHA:79305,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 3,[PFIC3],"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.",[602347],,,,,Progressive familial intrahepatic cholestasis type 3,TRUE,FALSE,Active +GARD:12890,Legacy,GARD,,,,,,,,,,,,Proliferating trichilemmal cysts,TRUE,FALSE,Retired +GARD:12891,Legacy,GARD,,,,,,,,,,,,Enfermedad de almacenamiento de glucógeno tipo 5,TRUE,TRUE,Active +GARD:12892,Active,Orphanet,ORPHA:352563,Disorder,[Disease],Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,"[COXPD16, Combined oxidative phosphorylation defect type 16]","A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.",[615395],,,,,Combined oxidative phosphorylation deficiency 16,TRUE,FALSE,Active +GARD:12893,Active,Orphanet,ORPHA:314051,Disorder,[Disease],Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,"[COXPD12, Combined oxidative phosphorylation defect type 12, LTBL]","A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.",[614924],,,,,Combined oxidative phosphorylation deficiency,TRUE,FALSE,Active +GARD:12894,Active,Orphanet,ORPHA:448237,Disorder,[Disease],Zika virus disease,[Zika virus infection],"Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.",,,,,,Zika virus infection,TRUE,FALSE,Active +GARD:12895,Legacy,GARD,,,,,,,,,,,,Síndrome de Rubinstein-Taybi,TRUE,TRUE,Active +GARD:12896,Legacy,GARD,,,,,,,,,,,,Síndrome de Turner,TRUE,TRUE,Active +GARD:12897,Legacy,GARD,,,,,,,,,,,,Síndrome de Adams-Oliver,TRUE,TRUE,Active +GARD:12898,Legacy,GARD,,,,,,,,,,,,Insensibilidad congénita al dolor con anhidrosis,TRUE,TRUE,Active +GARD:12899,Legacy,GARD,,,,,,,,,,,,Síndrome de Guillain-Barré,TRUE,TRUE,Active +GARD:12900,Active,Orphanet+OMIM,OMIM:612164,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 4,"[Epileptic encephalopathy, early infantile, 4]","Developmental and epileptic encephalopathy-4 (DEE4) is a neurologic disorder characterized by the onset of tonic seizures in early infancy (usually in first months of life). In most cases, seizures increase in frequency and become refractory. Affected individuals have profoundly impaired psychomotor development with poor head control, limited or no ability to walk, spastic quadriplegia, and poor or absent speech. Brain imaging may show cortical atrophy and hypomyelination. EEG studies in the more severe cases show a burst-suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, and/or hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Less severely affected individuals have later onset of seizures (summary by {5:Saitsu et al., 2008}; {3:Hamdan et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[612164],"[1934, 33069]","[Early infantile epileptic encephalopathy, Dravet syndrome]","[10430, 9255]",,Early infantile epileptic encephalopathy 4,TRUE,FALSE,Active +GARD:12901,Active,Orphanet+OMIM,OMIM:615905,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta,"[Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta]","Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by {4:Thevenon et al., 2014} and {3:Schossig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615905],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 25,TRUE,FALSE,Active +GARD:12902,Legacy,GARD,,,,,,,,,,,,Artrogriposis múltiple congénita,TRUE,TRUE,Active +GARD:12903,Active,Orphanet,ORPHA:401777,Disorder,[Disease],Optic atrophy-intellectual disability syndrome,"[BBSOAS, Bosch-Boonstra-Schaaf optic atrophy syndrome]","Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.",[615722],,,,,Optic atrophy-intellectual disability syndrome,TRUE,FALSE,Draft +GARD:12904,Legacy,GARD,,,,,,,,,,,,Síndrome de Troyer,TRUE,TRUE,Active +GARD:12905,Legacy,GARD,,,,,,,,,,,,Síndrome de opsoclono-mioclono,TRUE,TRUE,Active +GARD:12906,Legacy,GARD,,,,,,,,,,,,CYP2C19-related poor drug metabolism,FALSE,FALSE,Active +GARD:12907,Legacy,GARD,,,,,,,,,,,,intersex,FALSE,FALSE,Draft +GARD:12908,Legacy,GARD,,,,,,,,,,,,Duarte Galactosemia,TRUE,FALSE,Active +GARD:12909,Legacy,GARD,,,,,,,,,,,,Nevo de Becker,TRUE,TRUE,Active +GARD:12910,Legacy,GARD,,,,,,,,,,,,Síndrome del nevo de Becker,TRUE,TRUE,Active +GARD:12911,Legacy,GARD,,,,,,,,,,,,Scleritis,TRUE,FALSE,Active +GARD:12912,Legacy,GARD,,,,,,,,,,,,Hippocampal sclerosis,FALSE,FALSE,Draft +GARD:12913,Active,Orphanet,ORPHA:500533,Disorder,[Disease],Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,[PMSE syndrome],"A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.",[611087],,,,,"Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome",TRUE,FALSE,Active +GARD:12914,Legacy,GARD,,,,,,,,,,,,Bird Mites,FALSE,FALSE,Draft +GARD:12915,Active,Orphanet,ORPHA:319612,Subtype of disorder,[Etiological subtype],X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,"[X-linked MSMD due to IKBKG deficiency, X-linked MSMD due to NEMO deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency]",,[300636],,,,,NF-kappa B Essential Modulator Deficiency,TRUE,FALSE,Active +GARD:12916,Active,Orphanet,ORPHA:71275,Disorder,[Disease],Rh deficiency syndrome,[Rh-null syndrome],"A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.","[268150, 617970]",,,,,Rh deficiency syndrome,TRUE,FALSE,Active +GARD:12917,Legacy,GARD,,,,,,,,,,,,Multifocal avascular necrosis,FALSE,FALSE,Draft +GARD:12918,Legacy,GARD,,,,,,,,,,,,Granulomatosis con poliangeítis,TRUE,TRUE,Active +GARD:12919,Active,Orphanet,ORPHA:293181,Disorder,[Disease],Malignant migrating focal seizures of infancy,"[Epilepsy of infancy with migrating focal seizures, MMPEI, MMPSI, MPEI, MPSI, Malignant migrating partial epilepsy of infancy, Malignant migrating partial seizures of infancy, Migrating partial epilepsy of infancy, Migrating partial seizures of infancy]","A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.","[614959, 613722, 615338, 616645]",,,,,Malignant migrating partial seizures of infancy,TRUE,FALSE,Active +GARD:1292,Active,Orphanet,ORPHA:1416,Disorder,[Disease],Familial calcium pyrophosphate deposition,"[Calcium pyrophosphate dihydrate crystal deposition disease, Familial CC, Familial CPPD, Familial articular chondrocalcinosis, Hereditary CC, Hereditary articular chondrocalcinosis, Hereditary calcium pyrophosphate deposition]","A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).","[600668, 118600]",,,,,Chondrocalcinosis 2,TRUE,FALSE,Active +GARD:12920,Legacy,GARD,,,,,,,,,,,,Pulmonary embolism,FALSE,FALSE,Draft +GARD:12921,Active,Orphanet,ORPHA:79406,Disorder,[Disease],Late-onset junctional epidermolysis bullosa,"[Epidermolysis bullosa progressiva, JEB-lo, Late-onset JEB]","A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.",,,,,,Late-onset junctional epidermolysis bullosa,TRUE,FALSE,Active +GARD:12922,Active,Orphanet,ORPHA:79402,Disorder,[Disease],Intermediate generalized junctional epidermolysis bullosa,"[Generalized atrophic benign epidermolysis bullosa, Generalized junctional epidermolysis bullosa, non-Herlitz type, Intermediate generalized JEB, Junctional epidermolysis bullosa generalisata mitis, Junctional epidermolysis bullosa, Disentis type]","A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.",[226650],,,,,"Generalized junctional epidermolysis bullosa, non-Herlitz type",TRUE,FALSE,Active +GARD:12923,Active,Orphanet,ORPHA:251393,Disorder,[Disease],Localized junctional epidermolysis bullosa,"[JEB-nH loc, Junctional epidermolysis bullosa, non-Herlitz localized type, Localized JEB]","A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.",[226650],,,,,"Localized junctional epidermolysis bullosa, non-Herlitz type",TRUE,FALSE,Active +GARD:12924,Active,Orphanet,ORPHA:275555,Disorder,[Disease],Preeclampsia,,"A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.","[614595, 609404, 609402, 609403, 189800]",,,,,Preeclampsia,TRUE,FALSE,Draft +GARD:12925,Active,Orphanet,ORPHA:199276,Disorder,[Disease],Familial multiple lipomatosis,,"Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.",[151900],,,,,Familial multiple lipomatosis,TRUE,FALSE,Active +GARD:12926,Legacy,GARD,,,,,,,,,,,,Esclerodermia,FALSE,TRUE,Active +GARD:12927,Active,Orphanet,ORPHA:90059,Disorder,[Particular clinical situation in a disease or syndrome],Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma,,,,,,,,Sudden sensorineural hearing loss,TRUE,FALSE,Active +GARD:12928,Active,Orphanet,ORPHA:94,Group of disorders,[Clinical group],Astrocytoma,[Astrocytic tumor],A complex group of benign and malignant cerebral tumors arising at any age.,[137800],,,,,Astrocytoma,TRUE,FALSE,Draft +GARD:12929,Legacy,GARD,,,,,,,,,,,,Hereditary hemorrhagic telangiectasia type 1,TRUE,FALSE,Draft +GARD:12930,Legacy,GARD,,,,,,,,,,,,Anonychia congenita,TRUE,FALSE,Active +GARD:12931,Active,Orphanet,ORPHA:404448,Disorder,[Malformation syndrome],ADNP syndrome,"[ADNP-related syndromic intellectual disability-autism spectrum disorder, HVDAS, Helsmoortel-Van Der Aa Syndrome]","A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.",[615873],,,,,ADNP syndrome,TRUE,FALSE,Active +GARD:12932,Legacy,GARD,,,,,,,,,,,,Loss-of-function variants in HIVEP2,FALSE,FALSE,Retired +GARD:12933,Legacy,GARD,,,,,,,,,,,,Anemia de Diamond-Blackfan,TRUE,TRUE,Active +GARD:12934,Legacy,GARD,,,,,,,,,,,,Síndrome de inmunodesregulación - poliendocrinopatía - enteropatía ligada a X,TRUE,TRUE,Active +GARD:12935,Legacy,GARD,,,,,,,,,,,,Holoprosencefalia,TRUE,TRUE,Active +GARD:12936,Legacy,GARD,,,,,,,,,,,,Uterus didelphys,FALSE,FALSE,Draft +GARD:12937,Legacy,GARD,,,,,,,,,,,,Lance-Adams syndrome,FALSE,FALSE,Draft +GARD:12938,Legacy,GARD,,,,,,,,,,,,Higroma quístico,TRUE,FALSE,Draft +GARD:12939,Legacy,GARD,,,,,,,,,,,,Juvenile spondyloarthropathy,TRUE,FALSE,Active +GARD:1294,Legacy,GARD,,,,,,,,,,,,Lethal recessive chondrodysplasia,TRUE,FALSE,Active +GARD:12940,Legacy,GARD,,,,,,,,,,,,IRF6-Related disorders,TRUE,FALSE,Active +GARD:12941,Legacy,GARD,,,,,,,,,,,,Nuclear gene-encoded Leigh syndrome,TRUE,FALSE,Active +GARD:12942,Legacy,GARD,,,,,,,,,,,,Hypophosphatemic,TRUE,FALSE,Retired +GARD:12943,Active,Orphanet,ORPHA:89936,Disorder,[Disease],X-linked hypophosphatemia,"[X-linked hypophosphatemic rickets, XLH]","X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.",[307800],,,,,X-linked hypophosphatemia,TRUE,FALSE,Active +GARD:12944,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 4,TRUE,TRUE,Active +GARD:12945,Legacy,GARD,,,,,,,,,,,,Síndrome de Leigh,TRUE,TRUE,Active +GARD:12946,Legacy,GARD,,,,,,,,,,,,optic nerve drusen,FALSE,FALSE,Draft +GARD:12947,Legacy,GARD,,,,,,,,,,,,Síndrome de Johanson-Blizzard,TRUE,TRUE,Active +GARD:12948,Legacy,GARD,,,,,,,,,,,,Síndrome SHORT,TRUE,TRUE,Active +GARD:12949,Active,Orphanet+OMIM,OMIM:613477,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 5,"[Epileptic encephalopathy, early infantile, 5]","Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by {4:Saitsu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[613477],[3451],[Infantile spasms syndrome],[7887],,Early infantile epileptic encephalopathy 5,FALSE,FALSE,Draft +GARD:12953,Legacy,GARD,,,,,,,,,,,,Myalgic encephalomyelitis,FALSE,FALSE,Retired +GARD:12954,Legacy,GARD,,,,,,,,,,,,Confluent and reticulated papillomatosis,FALSE,FALSE,Draft +GARD:12955,Legacy,GARD,,,,,,,,,,,,Lichen planus,FALSE,FALSE,Draft +GARD:12957,Legacy,GARD,,,,,,,,,,,,Neisseria Elongata,FALSE,FALSE,Draft +GARD:12958,Active,Orphanet+OMIM,OMIM:613652,Subtype of disorder,[Disease subtype],C1q deficiency,,"C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see {152700}) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by {16:Topaloglu et al., 1996} and {17:Vassallo et al., 2007}).",[613652],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,C1q deficiency,TRUE,FALSE,Active +GARD:12959,Active,Orphanet,ORPHA:182058,Group of disorders,[Clinical group],Primary orthostatic hypotension,,,,,,,,Primary orthostatic hypotension,TRUE,FALSE,Active +GARD:1296,Active,Orphanet,ORPHA:79345,Disorder,[Malformation syndrome],Brachytelephalangic chondrodysplasia punctata,,"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.","[302950, 602497]",,,,,"Chondrodysplasia punctata 1, X-linked recessive",TRUE,FALSE,Active +GARD:12960,Legacy,GARD,,,,,,,,,,,,Síndrome HELLP,TRUE,TRUE,Active +GARD:12961,Legacy,GARD,,,,,,,,,,,,Calcium hydroxyapatite deposition disease,FALSE,FALSE,Draft +GARD:12962,Legacy,GARD,,,,,,,,,,,,Síndrome de duplicación 22q11.2,TRUE,TRUE,Active +GARD:12963,Active,Orphanet,ORPHA:352328,Disorder,[Disease],MEGDEL syndrome,"[3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome, 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome]","MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.",[614739],,,,,MEGDEL syndrome,TRUE,FALSE,Active +GARD:12964,Active,Orphanet,ORPHA:66634,Disorder,[Disease],Dilated cardiomyopathy with ataxia,"[3-methylglutaconic aciduria type 5, DCMA syndrome, MGA5]","Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.",[610198],,,,,DCMA syndrome,TRUE,FALSE,Active +GARD:12965,Legacy,GARD,,,,,,,,,,,,TMEM70 defect,TRUE,FALSE,Active +GARD:12966,Active,Orphanet,ORPHA:289902,Group of disorders,[Clinical group],3-methylglutaconic aciduria,,,,,,,,3-methylglutaconic aciduria,TRUE,FALSE,Draft +GARD:12967,Legacy,GARD,,,,,,,,,,,,Reticulohistiocytoma,TRUE,FALSE,Active +GARD:12968,Legacy,GARD,,,,,,,,,,,,Variantes del gen MTHFR,FALSE,TRUE,Active +GARD:12969,Legacy,GARD,,,,,,,,,,,,Histiocytic sarcoma,FALSE,FALSE,Draft +GARD:12970,Legacy,GARD,,,,,,,,,,,,Queratocono,TRUE,TRUE,Active +GARD:12971,Legacy,GARD,,,,,,,,,,,,Ataxia telangiectasia,TRUE,TRUE,Active +GARD:12972,Legacy,GARD,,,,,,,,,,,,Colestasis intrahepática del embarazo,TRUE,TRUE,Active +GARD:12973,Legacy,GARD,,,,,,,,,,,,Madelung deformity,TRUE,FALSE,Active +GARD:12974,Legacy,GARD,,,,,,,,,,,,Lipedematous Scalp,TRUE,FALSE,Active +GARD:12975,Legacy,GARD,,,,,,,,,,,,Cuero cabelludo lipedematoso,TRUE,TRUE,Active +GARD:12976,Active,Orphanet,ORPHA:319558,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,"[MSMD due to complete IL12B deficiency, MSMD due to complete interleukin 12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.,[614890],,,,,IL12B deficiency,TRUE,FALSE,Draft +GARD:12977,Active,Orphanet,ORPHA:748,Group of disorders,[Clinical group],Mendelian susceptibility to mycobacterial diseases,"[Idiopathic infection caused by BCG or atypical mycobacteria, MSMD, Mendelian susceptibility to atypical mycobacteria, Mendelian susceptibility to mycobacterial infections]","Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.",,,,,,Mendelian susceptibility to mycobacterial diseases,TRUE,FALSE,Active +GARD:12978,Active,Orphanet,ORPHA:401768,Disorder,[Disease],Proximal myopathy with extrapyramidal signs,,"Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.",[615673],,,,,Myopathy with extrapyramidal signs,TRUE,FALSE,Active +GARD:12979,Legacy,GARD,,,,,,,,,,,,Cutis laxa,TRUE,TRUE,Active +GARD:1298,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia punctata Sheffield type,TRUE,FALSE,Active +GARD:12980,Active,Orphanet,ORPHA:529468,Disorder,[Disease],Monoclonal mast cell activation syndrome,[Monoclonal MCAD],"A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.",,,,,,Monoclonal mast cell activation syndrome,TRUE,FALSE,Active +GARD:12981,Legacy,GARD,,,,,,,,,,,,Mast cell activation syndrome,TRUE,FALSE,Active +GARD:12982,Legacy,GARD,,,,,,,,,,,,"Alacrima, achalasia, and mental retardation syndrome",FALSE,FALSE,Retired +GARD:12983,Active,Orphanet,ORPHA:90045,Disorder,[Disease],Hereditary folate malabsorption,[Congenital folate malabsorption],"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.",[229050],,,,,Hereditary folate malabsorption,TRUE,FALSE,Active +GARD:12984,Legacy,GARD,,,,,,,,,,,,Displasia cleidocraneal,TRUE,TRUE,Draft +GARD:12985,Legacy,GARD,,,,,,,,,,,,Abdominal wall defect,FALSE,FALSE,Draft +GARD:12986,Active,Orphanet,ORPHA:99901,Disorder,[Disease],Acyl-CoA dehydrogenase 9 deficiency,[ACAD9 deficiency],"A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.",[611126],,,,,ACAD9 deficiency,TRUE,FALSE,Draft +GARD:12987,Active,Orphanet,ORPHA:314381,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 6,"[Familial dysautonomia with contractures, HSAN6, Hereditary sensory and autonomic neuropathy type VI]",,[614653],,,,,Hereditary sensory and autonomic neuropathy type 6,TRUE,FALSE,Draft +GARD:12988,Legacy,GARD,,,,,,,,,,,,retinal scarring,FALSE,FALSE,Draft +GARD:12989,Legacy,GARD,,,,,,,,,,,,X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome,FALSE,FALSE,Retired +GARD:1299,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia situs inversus imperforate anus polydactyly,TRUE,FALSE,Active +GARD:12990,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,FALSE,FALSE,Draft +GARD:12991,Active,Orphanet,ORPHA:498359,Disorder,[Disease],Aquagenic palmoplantar keratoderma,"[Aquagenic keratoderma, Aquagenic syringeal acrokeratoderma, Aquagenic wrinkling of the palms, Transient reactive papulotranslucent acrokeratoderma]","A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.",,,,,,Aquagenic syringeal acrokeratoderma,TRUE,FALSE,Active +GARD:12992,Legacy,GARD,,,,,,,,,,,,Leptomeningeal carcinoma,FALSE,FALSE,Retired +GARD:12993,Legacy,GARD,,,,,,,,,,,,Síndrome SeSAME,TRUE,TRUE,Active +GARD:12994,Legacy,GARD,,,,,,,,,,,,Craniofacial microsomia,TRUE,FALSE,Active +GARD:12995,Legacy,GARD,,,,,,,,,,,,hypertension,FALSE,FALSE,Retired +GARD:12996,Legacy,GARD,,,,,,,,,,,,SCN1A-related seizure disorders,TRUE,FALSE,Active +GARD:12997,Legacy,GARD,,,,,,,,,,,,Epilepsia relacionada al gen SCN1A,TRUE,TRUE,Active +GARD:12998,Legacy,GARD,,,,,,,,,,,,Acquired hemophagocytic lymphohistiocytosis,FALSE,FALSE,Active +GARD:12999,Legacy,GARD,,,,,,,,,,,,MED13L haploinsufficiency syndrome,TRUE,FALSE,Active +GARD:13,Active,Orphanet,ORPHA:1065,Disorder,[Malformation syndrome],Aniridia-cerebellar ataxia-intellectual disability syndrome,[Gillespie syndrome],"A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.",[206700],,,,,Gillespie syndrome,TRUE,FALSE,Active +GARD:130,Legacy,GARD,,,,,,,,,,,,Florid cystic endosalpingiosis of the uterus,TRUE,FALSE,Active +GARD:1300,Active,Orphanet,ORPHA:2098,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Grebe type","[Chondrodysplasia, Grebe type]","A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.",[200700],,,,,"Chondrodysplasia, Grebe type",TRUE,FALSE,Active +GARD:13000,Legacy,GARD,,,,,,,,,,,,Chromosome 18q deletion,TRUE,FALSE,Active +GARD:13001,Legacy,GARD,,,,,,,,,,,,Síndrome de Schwartz Jampel,TRUE,TRUE,Active +GARD:13002,Legacy,GARD,,,,,,,,,,,,Costochondritis,FALSE,FALSE,Retired +GARD:13003,Active,Orphanet,ORPHA:90283,Disorder,[Disease],Lupus erythematosus tumidus,[Intermittent cutaneous lupus],"A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.",,,,,,Lupus erythematosus tumidus,TRUE,FALSE,Active +GARD:13004,Active,Orphanet,ORPHA:890,Disorder,[Disease],Hepatic veno-occlusive disease,[Sinusoidal obstruction syndrome],"A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.",,,,,,Hepatic veno-occlusive disease,TRUE,FALSE,Active +GARD:13005,Legacy,GARD,,,,,,,,,,,,retinal detachment,FALSE,FALSE,Retired +GARD:13006,Legacy,GARD,,,,,,,,,,,,Hypomagnesemia,FALSE,FALSE,Retired +GARD:13007,Active,Orphanet,ORPHA:330041,Disorder,[Disease],Hemoglobin M disease,[M hemoglobinopathy],"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.","[617971, 617973]",,,,,"Methemoglobinemia, beta-globin type",TRUE,FALSE,Active +GARD:13009,Legacy,GARD,,,,,,,,,,,,Tornwaldt’s cyst,FALSE,FALSE,Draft +GARD:1301,Active,Orphanet,ORPHA:289,Disorder,[Malformation syndrome],Ellis Van Creveld syndrome,"[Chondroectodermal dysplasia, Mesodermic dysplasia]","A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.","[618123, 225500, 617088]",,,,,Ellis-Van Creveld syndrome,TRUE,FALSE,Active +GARD:13010,Legacy,GARD,,,,,,,,,,,,Síndrome de Costello,TRUE,TRUE,Active +GARD:13011,Active,Orphanet,ORPHA:156152,Group of disorders,[Clinical group],Anti-neutrophil cytoplasmic antibody-associated vasculitis,"[AAV, ANCA-associated vasculitis, Antineutrophil cytoplasmic antibody-associated vasculitis]",,,,,,,ANCA-associated vasculitis,TRUE,FALSE,Active +GARD:13013,Legacy,GARD,,,,,,,,,,,,Elizabethkingia anophelis infection,TRUE,FALSE,Active +GARD:13015,Active,Orphanet,ORPHA:66628,Subtype of disorder,[Etiological subtype],Obesity due to congenital leptin deficiency,,Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.,[614962],,,,,Obesity due to congenital leptin deficiency,TRUE,FALSE,Active +GARD:13016,Active,Orphanet,ORPHA:238569,Disorder,[Disease],Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,"[IL10-related early-onset IBD, IL10-related early-onset inflammatory bowel disease]","A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.","[612567, 613148]",,,,,Autosomal recessive early-onset inflammatory bowel disease,TRUE,FALSE,Active +GARD:13017,Legacy,GARD,,,,,,,,,,,,Infección del virus Zika,TRUE,TRUE,Active +GARD:13018,Legacy,GARD,,,,,,,,,,,,10q22.3q23 microdeletion syndrome,TRUE,FALSE,Active +GARD:13019,Active,Orphanet+OMIM,OMIM:616277,Subtype of disorder,[Disease subtype],Mitochondrial short-chain enoyl-coa hydratase 1 deficiency,,"Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by {3:Peters et al., 2014}).",[616277],[255241],[Leigh syndrome with leukodystrophy],[17238],,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,TRUE,FALSE,Active +GARD:1302,Legacy,GARD,,,,,,,,,,,,"Chondrodysplasia punctata, humero-metacarpal type",TRUE,FALSE,Active +GARD:13020,Active,Orphanet,ORPHA:79490,Disorder,[Malformation syndrome],Microcystic lymphatic malformation,"[Capillary lymphangioma, Capillary lymphatic malformation, Cutaneous lymphangioma circumscriptum, Microcystic infiltrating lymphatic malformation, Microcystic lymphangioma, Superficial lymphangioma, Superficial lymphatic malformation]","A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,Microcystic lymphatic malformation,TRUE,FALSE,Active +GARD:13021,Legacy,GARD,,,,,,,,,,,,Central nervous system germ cell tumor,FALSE,FALSE,Draft +GARD:13022,Legacy,GARD,,,,,,,,,,,,Germ cells tumors,TRUE,FALSE,Active +GARD:13023,Legacy,GARD,,,,,,,,,,,,Alezzandrini syndrome,TRUE,FALSE,Active +GARD:13024,Legacy,GARD,,,,,,,,,,,,Síndrome de antisintetasas,TRUE,TRUE,Active +GARD:13025,Active,Orphanet,ORPHA:79414,Disorder,[Disease],Woolly hair nevus,[Wooly hair nevus],"Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.",[162900],,,,,Epidermal nevus,FALSE,FALSE,Active +GARD:13026,Legacy,GARD,,,,,,,,,,,,Nevo epidérmico,FALSE,TRUE,Active +GARD:13027,Legacy,GARD,,,,,,,,,,,,Bier spots,TRUE,FALSE,Active +GARD:13028,Legacy,GARD,,,,,,,,,,,,Dissociative seizures,TRUE,FALSE,Active +GARD:13029,Legacy,GARD,,,,,,,,,,,,Episodic angioedema with eosinophilia,TRUE,FALSE,Active +GARD:1303,Active,Orphanet,ORPHA:178,Disorder,[Disease],Chordoma,[Notochordal sarcoma],Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.,[215400],,,,,Chordoma,TRUE,FALSE,Active +GARD:13030,Active,Orphanet,ORPHA:3226,Disorder,[Malformation syndrome],Deafness-lymphedema-leukemia syndrome,"[Emberger syndrome, Hearing loss-lymphedema-leukemia syndrome]","A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.",[614038],,,,,Deafness-lymphedema-leukemia syndrome,TRUE,FALSE,Active +GARD:13031,Legacy,GARD,,,,,,,,,,,,Tubulin-Related Cortical Dysgenesis,TRUE,FALSE,Draft +GARD:13032,Active,Orphanet,ORPHA:300570,Disorder,[Disease],Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,,"A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.",[614039],,,,,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,TRUE,FALSE,Active +GARD:13033,Legacy,GARD,,,,,,,,,,,,aphasia,FALSE,FALSE,Retired +GARD:13034,Active,Orphanet,ORPHA:97253,Group of disorders,[Category],Neuroendocrine tumor of pancreas,"[PNET, Pancreatic NET, Pancreatic neuroendocrine tumor, Well-differentiated NEN of pancreas, Well-differentiated neuroendocrine neoplasm of pancreas, Well-differentiated pancreatic NEN, Well-differentiated pancreatic neuroendocrine neoplasm]","Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).",,,,,,Pancreatic neuroendocrine tumor,TRUE,FALSE,Active +GARD:13035,Legacy,GARD,,,,,,,,,,,,Neonatal abstinence syndrome,FALSE,FALSE,Retired +GARD:13037,Legacy,GARD,,,,,,,,,,,,Miastenia grave,TRUE,TRUE,Active +GARD:13038,Legacy,GARD,,,,,,,,,,,,Endometrial Serous Adenocarcinoma,FALSE,FALSE,Draft +GARD:13039,Legacy,GARD,,,,,,,,,,,,Urothelial carcinoma,FALSE,FALSE,Draft +GARD:13040,Active,Orphanet,ORPHA:542592,Disorder,[Disease],Necrobiosis lipoidica,[Oppenheim-Urbach disease],"A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.",,,,,,Necrobiosis lipoidica,TRUE,FALSE,Active +GARD:13041,Active,Orphanet+OMIM,OMIM:612304,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein c deficiency, autosomal recessive","[Protein c deficiency, autosomal recessive, proc deficiency, autosomal recessive]","Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia ({10:Millar et al., 2000}).",[612304],[745],[Severe hereditary thrombophilia due to congenital protein C deficiency],[16544],,Autosomal recessive protein C deficiency,TRUE,FALSE,Active +GARD:13042,Legacy,GARD,,,,,,,,,,,,Multicentric carpotarsal osteolysis syndrome,TRUE,FALSE,Active +GARD:13043,Active,Orphanet,ORPHA:329224,Disorder,[Malformation syndrome],Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,[PACS1-related syndrome],"Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.",[615009],,,,,PACS1-related syndrome,TRUE,FALSE,Active +GARD:13044,Legacy,GARD,,,,,,,,,,,,Epidermoid brain cyst,TRUE,FALSE,Active +GARD:13045,Legacy,GARD,,,,,,,,,,,,Dystonia syndrome,FALSE,FALSE,Retired +GARD:13046,Active,Orphanet,ORPHA:363976,Disorder,[Disease],Giant cell tumor of bone,"[GCT of bone, Osteoclastoma]","A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.",,,,,,Giant cell tumor of bone,TRUE,FALSE,Active +GARD:13047,Active,Orphanet,ORPHA:363504,Group of disorders,[Category],Germ cell tumor of testis,[Testicular germ cell tumor],,[273300],,,,,Testicular germ cell tumor,TRUE,FALSE,Active +GARD:13048,Legacy,GARD,,,,,,,,,,,,Nevus comedonicus,TRUE,FALSE,Active +GARD:13049,Legacy,GARD,,,,,,,,,,,,Neuropatía óptica hereditaria de Leber,TRUE,TRUE,Active +GARD:1305,Active,Orphanet,ORPHA:1429,Disorder,[Disease],Benign hereditary chorea,"[BHC, Benign familial chorea]","A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.","[215450, 118700]",,,,,Benign hereditary chorea,TRUE,FALSE,Active +GARD:13050,Legacy,GARD,,,,,,,,,,,,Pituitary macroadenoma,FALSE,FALSE,Retired +GARD:13051,Legacy,GARD,,,,,,,,,,,,Amaurosis congénita de Leber,TRUE,TRUE,Active +GARD:13052,Legacy,GARD,,,,,,,,,,,,Deficiencia de LCHAD,TRUE,TRUE,Active +GARD:13053,Legacy,GARD,,,,,,,,,,,,Mitochondrial DNA Deletion Syndromes,TRUE,FALSE,Draft +GARD:13054,Legacy,GARD,,,,,,,,,,,,Urticaria acuagénica,TRUE,TRUE,Active +GARD:13055,Legacy,GARD,,,,,,,,,,,,Prurito acuagénico,TRUE,TRUE,Active +GARD:13056,Active,Orphanet,ORPHA:86816,Disorder,[Disease],Congenital analbuminemia,,Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).,[616000],,,,,Congenital analbuminemia,TRUE,FALSE,Active +GARD:13057,Legacy,GARD,,,,,,,,,,,,Lymphatic malformation,FALSE,FALSE,Retired +GARD:13058,Active,Orphanet,ORPHA:65743,Disorder,[Malformation syndrome],Autosomal dominant multiple pterygium syndrome,[Distal arthrogryposis type 8],"A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.",[178110],,,,,Autosomal dominant multiple pterygium syndrome,TRUE,FALSE,Active +GARD:13059,Active,Orphanet,ORPHA:329457,Disorder,[Disease],Distal arthrogryposis type 5D,"[DA5D, Distal arthrogryposis type 5 without ophthalmoparesis, Distal arthrogryposis type 5 without ophthalmoplegia]","Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.",[615065],,,,,Distal arthrogryposis type 5D,TRUE,FALSE,Active +GARD:1306,Legacy,GARD,,,,,,,,,,,,Choreoacanthocytosis amyotrophic,TRUE,FALSE,Active +GARD:13060,Active,Orphanet,ORPHA:439218,Disorder,[Disease],KCNQ2-related epileptic encephalopathy,"[KCNQ2-NEE, KCNQ2-related neonatal epileptic encephalopathy]","KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.",[613720],,,,,KCNQ2-Related Disorders,TRUE,FALSE,Active +GARD:13062,Legacy,GARD,,,,,,,,,,,,Enfermedades relacionadas al gen KCNQ2,TRUE,TRUE,Active +GARD:13063,Active,Orphanet,ORPHA:217008,Disorder,[Malformation syndrome],Bockenheimer syndrome,[Genuine diffuse phlebectasia],"A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.",,,,,,Genuine diffuse phlebectasia,TRUE,FALSE,Active +GARD:13064,Legacy,GARD,,,,,,,,,,,,Artropatía pseudoreumatoide progresiva infantil,TRUE,TRUE,Active +GARD:13067,Legacy,GARD,,,,,,,,,,,,Enfermedad de Gerstmann-Straussler-Scheinker,TRUE,TRUE,Active +GARD:13068,Legacy,GARD,,,,,,,,,,,,Secuencia de Pierre Robin,TRUE,TRUE,Active +GARD:13070,Active,Orphanet,ORPHA:48162,Subtype of disorder,[Clinical subtype],Lewis-Sumner syndrome,"[MADSAM, Multifocal acquired demyelinating sensory and motor neuropathy]",Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.,,,,,,Lewis-Sumner syndrome,TRUE,FALSE,Active +GARD:13071,Legacy,GARD,,,,,,,,,,,,Malignant Eye Neoplasm,FALSE,FALSE,Draft +GARD:13072,Active,Orphanet,ORPHA:30924,Disorder,[Disease],Primary hypomagnesemia with secondary hypocalcemia,"[HOMG1, HSH, Hypomagnesemia caused by selective magnesium malabsorption, Hypomagnesemia intestinal type 1, Intestinal hypomagnesemia with secondary hypocalcemia, PHSH]","Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.",[602014],,,,,Primary hypomagnesemia with secondary hypocalcemia,TRUE,FALSE,Active +GARD:13073,Active,Orphanet,ORPHA:64754,Disorder,[Disease],Nevus comedonicus syndrome,,"A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.",[617025],,,,,Nevus comedonicus syndrome,TRUE,FALSE,Active +GARD:13074,Legacy,GARD,,,,,,,,,,,,tetrology of fallot,FALSE,FALSE,Draft +GARD:13075,Active,Orphanet,ORPHA:497188,Disorder,[Disease],Diffuse intrinsic pontine glioma,[DIPG],"A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.",,,,,,Diffuse intrinsic pontine glioma,TRUE,FALSE,Active +GARD:13076,Legacy,GARD,,,,,,,,,,,,Síndrome de Wernicke-Korsakoff,TRUE,TRUE,Active +GARD:13077,Legacy,GARD,,,,,,,,,,,,Malformaciones de Chiari,FALSE,TRUE,Active +GARD:13078,Legacy,GARD,,,,,,,,,,,,Ano imperforado,TRUE,TRUE,Active +GARD:13079,Legacy,GARD,,,,,,,,,,,,Telangiectasia macularis eruptive perstans,TRUE,FALSE,Active +GARD:1308,Legacy,GARD,,,,,,,,,,,,Chorioretinopathy dominant form microcephaly,TRUE,FALSE,Retired +GARD:13080,Legacy,GARD,,,,,,,,,,,,Segmental spinal dysgenesis,FALSE,FALSE,Draft +GARD:13081,Legacy,GARD,,,,,,,,,,,,Chromosome 12 pericentric inversion,FALSE,FALSE,Draft +GARD:13082,Legacy,GARD,,,,,,,,,,,,Chromosome insertion,FALSE,FALSE,Draft +GARD:13083,Legacy,GARD,,,,,,,,,,,,Liquen plano pilar,TRUE,TRUE,Active +GARD:13084,Legacy,GARD,,,,,,,,,,,,Enfermedad relacionada con IgG4,TRUE,TRUE,Active +GARD:13085,Active,Orphanet+OMIM,OMIM:614558,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 13,"[Epileptic encephalopathy, early infantile, 13]","Developmental and epileptic encephalopathy-13 (DEE13) is a neurologic disorder characterized by the onset of intractable seizures in the first year of life. Some patients may present with seizures in the first days, whereas others present later (between 2 and 7 months of age) after normal or only mild developmental delay. Affected individuals have profoundly impaired development or developmental regression after the onset of seizures, and show severe intellectual disability, poor or absent language, hypotonia, and are usually unable to walk. EEG shows variable abnormalities, including multifocal and generalized spike-wave discharges, sometimes with status epilepticus or hypsarrhythmia. Brain imaging may show cerebral atrophy (summary by {4:Ohba et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[614558],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,SCN8A encephalopathy,TRUE,FALSE,Active +GARD:13086,Legacy,GARD,,,,,,,,,,,,Enfermedad de Pelizaeus-Merzbacher,TRUE,TRUE,Active +GARD:13087,Legacy,GARD,,,,,,,,,,,,Pediatric acute-onset neuropsychiatric syndrome,TRUE,FALSE,Active +GARD:13088,Legacy,GARD,,,,,,,,,,,,Síndrome de enfermedad postorgásmica,TRUE,TRUE,Active +GARD:13089,Legacy,GARD,,,,,,,,,,,,Genetic testing result,FALSE,FALSE,Internal +GARD:1309,Legacy,GARD,,,,,,,,,,,,Choroid plexus cyst,TRUE,FALSE,Active +GARD:13090,Legacy,GARD,,,,,,,,,,,,Small Intestinal Adenocarcinoma,TRUE,FALSE,Active +GARD:13091,Legacy,GARD,,,,,,,,,,,,Enfermedad de von Willebrand,TRUE,TRUE,Active +GARD:13092,Legacy,GARD,,,,,,,,,,,,Primary spinal cord neoplasm,TRUE,FALSE,Draft +GARD:13093,Legacy,GARD,,,,,,,,,,,,OPHN1 syndrome,TRUE,FALSE,Active +GARD:13094,Legacy,GARD,,,,,,,,,,,,Leucodistrofia,TRUE,TRUE,Active +GARD:13095,Legacy,GARD,,,,,,,,,,,,Aspergillus terreus infection,FALSE,FALSE,Draft +GARD:13096,Legacy,GARD,,,,,,,,,,,,Paternal uniparental disomy of chromosome 4,FALSE,FALSE,Draft +GARD:13097,Legacy,GARD,,,,,,,,,,,,Enfermedad de Vogt-Koyanagi-Harada,TRUE,TRUE,Active +GARD:13098,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de Becker,TRUE,TRUE,Active +GARD:13099,Legacy,GARD,,,,,,,,,,,,Microdeleción 15q11.2,TRUE,TRUE,Active +GARD:131,Legacy,GARD,,,,,,,,,,,,Myeloid sarcoma,TRUE,FALSE,Retired +GARD:13100,Legacy,GARD,,,,,,,,,,,,Trimetilaminuria,TRUE,TRUE,Active +GARD:13101,Active,Orphanet,ORPHA:199247,Disorder,[Disease],Corticosteroid-binding globulin deficiency,[Transcortin deficiency],"Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.",[611489],,,,,Corticosteroid-binding globulin deficiency,TRUE,FALSE,Active +GARD:13102,Legacy,GARD,,,,,,,,,,,,Síndrome de Williams,TRUE,TRUE,Active +GARD:13103,Legacy,GARD,,,,,,,,,,,,Adult T-cell leukemia/lymphoma,TRUE,FALSE,Active +GARD:13104,Legacy,GARD,,,,,,,,,,,,Fibro-adipose vascular anomaly,TRUE,FALSE,Active +GARD:13105,Active,Orphanet,ORPHA:1652,Disorder,[Disease],Dent disease,"[Dent syndrome, Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis, Renal Fanconi syndrome with nephrocalcinosis and renal stones, X-linked recessive hypercalciuric hypophosphatemic rickets, X-linked recessive nephrolithiasis]","A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.","[310468, 300009, 308990, 300554, 300555]",,,,,Dent disease,TRUE,FALSE,Active +GARD:13106,Legacy,GARD,,,,,,,,,,,,Orofacial Granulomatosis,TRUE,FALSE,Active +GARD:13107,Legacy,GARD,,,,,,,,,,,,Adenosquamous carcinoma of the endometrium,TRUE,FALSE,Active +GARD:13108,Active,Orphanet,ORPHA:494433,Disorder,[Disease],MIRAGE syndrome,"[Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome]","A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.",[617053],,,,,MIRAGE syndrome,TRUE,FALSE,Active +GARD:13109,Legacy,GARD,,,,,,,,,,,,Liposarcoma mixoide,TRUE,TRUE,Active +GARD:13110,Active,Orphanet,ORPHA:438266,Subtype of disorder,[Clinical subtype],Progressive encephalomyelitis with rigidity and myoclonus,[PERM],"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.",[184850],,,,,Progressive encephalomyelitis with rigidity and myoclonus,TRUE,FALSE,Active +GARD:13111,Active,Orphanet,ORPHA:459033,Disorder,[Disease],Ataxia-oculomotor apraxia type 4,[AOA4],"A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.",[616267],,,,,Ataxia with oculomotor apraxia type 4,TRUE,FALSE,Active +GARD:13112,Active,Orphanet+OMIM,OMIM:615217,Subtype of disorder,[Disease subtype],Ataxia-oculomotor apraxia 3,,"AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life ({1:Al Tassan et al., 2012}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).",[615217],[64753],[Spinocerebellar ataxia with axonal neuropathy type 2],[12860],,Ataxia with oculomotor apraxia type 3,TRUE,FALSE,Active +GARD:13113,Active,Orphanet+OMIM,OMIM:616483,Subtype of disorder,[Disease subtype],Infantile liver failure syndrome 2,,"Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by {1:Haack et al., 2015}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438}).",[616483],[464724],[Fever-associated acute infantile liver failure syndrome],[17820],,Infantile liver failure syndrome 2,TRUE,FALSE,Active +GARD:13114,Active,Orphanet,ORPHA:370088,Disorder,[Disease],Acute infantile liver failure-multisystemic involvement syndrome,,"A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.",[615438],,,,,Infantile liver failure syndrome 1,TRUE,FALSE,Active +GARD:13115,Legacy,GARD,,,,,,,,,,,,Arthrofibrosis,FALSE,FALSE,Draft +GARD:13116,Legacy,GARD,,,,,,,,,,,,Síndrome de Poland,TRUE,TRUE,Active +GARD:13117,Legacy,GARD,,,,,,,,,,,,cerebral small vessel disease,FALSE,FALSE,Draft +GARD:13118,Legacy,GARD,,,,,,,,,,,,Trisomía del cromosoma 20,TRUE,TRUE,Active +GARD:13119,Legacy,GARD,,,,,,,,,,,,Granulomatous lobular mastitis,TRUE,FALSE,Active +GARD:1312,Legacy,GARD,,,,,,,,,,,,Choroideremia hypopituitarism,TRUE,FALSE,Active +GARD:13120,Legacy,GARD,,,,,,,,,,,,Distrofia macular viteliforme de Best,TRUE,TRUE,Active +GARD:13121,Legacy,GARD,,,,,,,,,,,,Melanoma,FALSE,FALSE,Draft +GARD:13122,Legacy,GARD,,,,,,,,,,,,hyperemesis,FALSE,FALSE,Draft +GARD:13123,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hirschsprung,TRUE,TRUE,Active +GARD:13124,Active,Orphanet,ORPHA:70591,Disorder,[Disease],Chronic thromboembolic pulmonary hypertension,[CTEPH],"A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 µm. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.",[612862],,,,,Chronic thromboembolic pulmonary hypertension,TRUE,FALSE,Active +GARD:13125,Active,Orphanet,ORPHA:435651,Disorder,[Disease],CIDEC-related familial partial lipodystrophy,"[CIDEC-related FPLD, FPLD5]","A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.",[615238],,,,,"Lipodystrophy, familial partial, type 5",TRUE,FALSE,Active +GARD:13126,Active,Orphanet,ORPHA:435660,Disorder,[Disease],LIPE-related familial partial lipodystrophy,"[FPLD6, LIPE-related FPLD]","A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.",[615980],,,,,LIPE-related familial partial lipodystrophy,TRUE,FALSE,Active +GARD:13127,Legacy,GARD,,,,,,,,,,,,Neuropatía óptica isquémica anterior,TRUE,TRUE,Active +GARD:13128,Legacy,GARD,,,,,,,,,,,,Síndrome de Townes-Brocks,TRUE,TRUE,Active +GARD:1313,Active,Orphanet,ORPHA:1313,Disorder,[Disease],Infantile choroidocerebral calcification syndrome,,"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.",[215480],,,,,Infantile choroidocerebral calcification syndrome,TRUE,FALSE,Active +GARD:13131,Legacy,GARD,,,,,,,,,,,,Hematohidrosis,TRUE,FALSE,Active +GARD:13132,Legacy,GARD,,,,,,,,,,,,Encefalopatía epiléptica infantil temprana,TRUE,TRUE,Active +GARD:13133,Legacy,GARD,,,,,,,,,,,,Posterior cerebral artery,FALSE,FALSE,Draft +GARD:13134,Legacy,GARD,,,,,,,,,,,,Posterior Cerebral Artery Stroke,FALSE,FALSE,Draft +GARD:13135,Legacy,GARD,,,,,,,,,,,,enteric neuropathy,FALSE,FALSE,Draft +GARD:13136,Active,Orphanet+OMIM,OMIM:616083,Subtype of disorder,"[Etiological subtype, Disease subtype]","Intellectual developmental disorder, autosomal dominant 30","[Mental retardation, autosomal dominant 30]",,[616083],"[436151, 178469]","[Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Autosomal dominant non-syndromic intellectual disability]","[12107, 17724]",,Autosomal dominant intellectual disability 30,TRUE,FALSE,Active +GARD:13137,Active,Orphanet,ORPHA:369962,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblX","[Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, Methylmalonic aciduria with homocystinuria, type cblX]",,[309541],,,,,Methylmalonic acidemia and homocysteinemia type cblX,TRUE,FALSE,Active +GARD:13138,Legacy,GARD,,,,,,,,,,,,Pénfigo vulgar,TRUE,TRUE,Active +GARD:13139,Legacy,GARD,,,,,,,,,,,,Pénfigo vulgar,FALSE,FALSE,Retired +GARD:13140,Legacy,GARD,,,,,,,,,,,,Reactive airway dysfunction syndrome,FALSE,FALSE,Draft +GARD:13141,Legacy,GARD,,,,,,,,,,,,Enfermedad de Behçet,TRUE,TRUE,Active +GARD:13142,Active,Orphanet,ORPHA:623801,Disorder,[Disease],Acute flaccid myelitis,,,,,,,,Acute flaccid myelitis,TRUE,FALSE,Active +GARD:13145,Legacy,GARD,,,,,,,,,,,,DEAF1 mutation,FALSE,FALSE,Draft +GARD:13147,Legacy,GARD,,,,,,,,,,,,Chromosome 19p13.3 microdeletion,FALSE,FALSE,Draft +GARD:13148,Legacy,GARD,,,,,,,,,,,,appendix adenocarcinoma,TRUE,FALSE,Retired +GARD:13149,Legacy,GARD,,,,,,,,,,,,Pelvic venous congestion syndrome,FALSE,FALSE,Draft +GARD:1315,Legacy,GARD,,,,,,,,,,,,Christian Demyer Franken syndrome,TRUE,FALSE,Active +GARD:13150,Legacy,GARD,,,,,,,,,,,,Cordoma,TRUE,TRUE,Active +GARD:13151,Legacy,GARD,,,,,,,,,,,,Helicobacter pylori infection,FALSE,FALSE,Draft +GARD:13152,Legacy,GARD,,,,,,,,,,,,Carcinoma indiferenciado nasosinusal,TRUE,TRUE,Active +GARD:13153,Legacy,GARD,,,,,,,,,,,,Fungal infection,FALSE,FALSE,Draft +GARD:13154,Active,Orphanet,ORPHA:609,Disorder,[Disease],Tibial muscular dystrophy,"[Distal myopathy, Udd type, Distal titinopathy, Finnish tibial muscular dystrophy, TMD, Udd myopathy]","Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.",[600334],,,,,Tibial muscular dystrophy,TRUE,FALSE,Draft +GARD:13155,Active,Orphanet,ORPHA:441452,Subtype of disorder,[Clinical subtype],Early-onset lamellar cataract,,,"[613763, 116100, 600881]",,,,,Early-onset lamellar cataract,TRUE,FALSE,Draft +GARD:13156,Active,Orphanet,ORPHA:46484,Group of disorders,[Clinical group],Oligodendroglial tumor,,Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).,,,,,,Oligodendroglial Tumor,TRUE,FALSE,Draft +GARD:13157,Active,Orphanet,ORPHA:47044,Disorder,[Disease],Hereditary papillary renal cell carcinoma,[HPRCC],Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.,[605074],,,,,Hereditary papillary renal cell carcinoma,TRUE,FALSE,Draft +GARD:13158,Active,Orphanet,ORPHA:36236,Disorder,[Disease],Staphylococcal scalded skin syndrome,"[Generalized exfoliative disease, SSSS]","A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.",,,,,,Staphylococcal scalded skin syndrome,TRUE,FALSE,Draft +GARD:13159,Legacy,GARD,,,,,,,,,,,,Familial isolated dilated cardiomyopathy,TRUE,FALSE,Draft +GARD:1316,Legacy,GARD,,,,,,,,,,,,Christian Johnson Angenieta syndrome,TRUE,FALSE,Active +GARD:13160,Active,Orphanet,ORPHA:177,Disorder,[Disease],Rhizomelic chondrodysplasia punctata,[RCDP],"A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.","[222765, 215100, 600121, 616716]",,,,,Rhizomelic chondrodysplasia punctata,TRUE,FALSE,Active +GARD:13161,Legacy,GARD,,,,,,,,,,,,Panhypopituitarism,TRUE,FALSE,Draft +GARD:13162,Legacy,GARD,,,,,,,,,,,,PROP1-Related Combined Pituitary Hormone Deficiency,TRUE,FALSE,Draft +GARD:13163,Active,Orphanet,ORPHA:293355,Group of disorders,[Clinical group],Methylmalonic acidemia without homocystinuria,[Methylmalonic aciduria without homocystinuria],Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.,,,,,,Methylmalonic acidemia without homocystinuria,TRUE,FALSE,Active +GARD:13164,Legacy,GARD,,,,,,,,,,,,Vitamin B12-unresponsive methylmalonic acidemia,TRUE,FALSE,Retired +GARD:13165,Legacy,GARD,,,,,,,,,,,,Congenital cavernous malformation of the spine,FALSE,FALSE,Internal +GARD:13166,Legacy,GARD,,,,,,,,,,,,Enfermedad granulomatosa crónica,TRUE,TRUE,Active +GARD:13167,Active,Orphanet,ORPHA:411788,Disorder,[Disease],Familial isolated trichomegaly,,"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.",[190330],,,,,Familial isolated trichomegaly,TRUE,FALSE,Draft +GARD:13168,Active,Orphanet,ORPHA:454887,Disorder,[Disease],Corticobasal syndrome,,"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.",,,,,,Corticobasal syndrome,TRUE,FALSE,Draft +GARD:13169,Active,Orphanet,ORPHA:263463,Disorder,[Disease],CHST3-related skeletal dysplasia,"[Chondrodysplasia with congenital joint dislocations, CHST3 type, SDCD, CHST3 type, Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type]","CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.",[143095],,,,,CHST3-related skeletal dysplasia,TRUE,FALSE,Active +GARD:13170,Legacy,GARD,,,,,,,,,,,,Xp22.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:13171,Active,Orphanet,ORPHA:448242,Disorder,[Malformation syndrome],Autosomal recessive brachyolmia,"[Brachyolmia, Hobaek/Toledo type]","Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","[271530, 271630]",,,,,Autosomal recessive brachyolmia,TRUE,FALSE,Draft +GARD:13172,Legacy,GARD,,,,,,,,,,,,Colon Signet Ring Cell Adenocarcinoma,TRUE,FALSE,Draft +GARD:13173,Active,Orphanet,ORPHA:639,Disorder,[Disease],Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,"[Anti-MAG neuropathy, Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein]","A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.",,,,,,Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,TRUE,FALSE,Draft +GARD:13174,Active,Orphanet+OMIM,OMIM:157640,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1","[Progressive external ophthalmoplegia, autosomal dominant 1]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {11:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 ({609283}), caused by mutation in the ANT1 gene (SLC25A4; {103220}) on chromosome 4q34; PEOA3 ({609286}), caused by mutation in the TWNK gene ({606075}) on chromosome 10q24; PEOA4 ({610131}), caused by mutation in the POLG2 gene ({604983}) on chromosome 17q; PEOA5 ({613077}), caused by mutation in the RRM2B gene ({604712}) on chromosome 8q23; and PEOA6 ({615156}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q.",[157640],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,Autosomal dominant progressive external ophthalmoplegia,TRUE,FALSE,Draft +GARD:13175,Active,Orphanet,ORPHA:319319,Disorder,[Disease],Renal medullary carcinoma,,"Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.",,,,,,Renal medullary carcinoma,TRUE,FALSE,Active +GARD:13176,Legacy,GARD,,,,,,,,,,,,Insomnio familiar fatal,TRUE,TRUE,Active +GARD:13177,Active,Orphanet,ORPHA:88618,Disorder,[Disease],S-adenosylhomocysteine hydrolase deficiency,,"A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.",[613752],,,,,Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency,TRUE,FALSE,Active +GARD:13178,Legacy,GARD,,,,,,,,,,,,Secondary carnitine deficiency,FALSE,FALSE,Draft +GARD:13179,Active,Orphanet+OMIM,OMIM:616977,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 43",,,[616977],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,HIVEP2-related intellectual disability,TRUE,FALSE,Active +GARD:13180,Legacy,GARD,,,,,,,,,,,,Sarna costrosa,FALSE,TRUE,Active +GARD:13181,Legacy,GARD,,,,,,,,,,,,Syndactyly,FALSE,FALSE,Active +GARD:13182,Legacy,GARD,,,,,,,,,,,,Lipomatosis simétrica múltiple,TRUE,TRUE,Active +GARD:13183,Legacy,GARD,,,,,,,,,,,,Anemia de Fanconi,TRUE,TRUE,Active +GARD:13184,Legacy,GARD,,,,,,,,,,,,Trisomy 18 mosaicism,FALSE,FALSE,Draft +GARD:13185,Legacy,GARD,,,,,,,,,,,,Parálisis periódica hipocalémica,TRUE,TRUE,Active +GARD:13186,Active,Orphanet,ORPHA:158003,Disorder,[Disease],Xanthoma disseminatum,[Montgomery syndrome],"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.",,,,,,Xanthoma disseminatum,TRUE,FALSE,Active +GARD:13187,Legacy,GARD,,,,,,,,,,,,Diabetes insípida central,TRUE,TRUE,Active +GARD:13188,Legacy,GARD,,,,,,,,,,,,Diabetes insípida nefrogénica,TRUE,TRUE,Active +GARD:13189,Legacy,GARD,,,,,,,,,,,,Miocardiopatía hipertrófica familiar,TRUE,TRUE,Active +GARD:1319,Active,Orphanet,ORPHA:182,Disorder,[Disease],Chromomycosis,[Chromoblastomycosis],"Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.",,,,,,Chromoblastomycosis,TRUE,FALSE,Active +GARD:13190,Legacy,GARD,,,,,,,,,,,,Síndrome de Dravet,TRUE,TRUE,Active +GARD:13191,Legacy,GARD,,,,,,,,,,,,Gastrosquisis,TRUE,TRUE,Active +GARD:13192,Legacy,GARD,,,,,,,,,,,,Chronic Granulomatous Meningitis,FALSE,FALSE,Draft +GARD:13193,Legacy,GARD,,,,,,,,,,,,Hereditary alpha tryptasemia syndrome,FALSE,FALSE,Active +GARD:13194,Legacy,GARD,,,,,,,,,,,,Síndrome de Cowden,TRUE,TRUE,Active +GARD:13195,Legacy,GARD,,,,,,,,,,,,Hemocromatosis,FALSE,TRUE,Active +GARD:13196,Legacy,GARD,,,,,,,,,,,,epidural lipomatosis,FALSE,FALSE,Draft +GARD:13197,Active,Orphanet+OMIM,OMIM:615369,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 94,"[Epileptic encephalopathy, childhood-onset]","Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and impaired intellectual development (summary by {1:Carvill et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615369],"[2382, 1942]","[Myoclonic-astatic epilepsy, Lennox-Gastaut syndrome]","[2169, 9912]",,CHD2 myoclonic encephalopathy,TRUE,FALSE,Active +GARD:13198,Active,Orphanet,ORPHA:500062,Disorder,[Disease],Infantile-onset periodic fever-panniculitis-dermatosis syndrome,"[ORAS, OTULIN deficiency, OTULIN-related autoinflammatory syndrome, Otulipenia]","A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.",[617099],,,,,Otulipenia,TRUE,FALSE,Active +GARD:13199,Active,Orphanet,ORPHA:85136,Disorder,[Disease],Cystic leukoencephalopathy without megalencephaly,[CLWM],"Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.",[612951],,,,,RNAse T2-deficient leukoencephalopathy,TRUE,FALSE,Active +GARD:132,Active,Orphanet,ORPHA:137807,Group of disorders,[Clinical group],Primary cutaneous amyloidosis,"[PLCA, Primary localized cutaneous amyloidosis]","Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms).",,,,,,Primary cutaneous amyloidosis,TRUE,FALSE,Active +GARD:1320,Active,Orphanet,ORPHA:1437,Disorder,[Malformation syndrome],Ring chromosome 1 syndrome,"[Ring 1, Ring chromosome 1, r(1) syndrome]","Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.",,,,,,Ring chromosome 1,TRUE,FALSE,Active +GARD:13200,Active,Orphanet,ORPHA:255235,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","[mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy]","A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.",[612075],,,,,RRM2B-related mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13201,Active,Orphanet,ORPHA:401948,Disorder,[Disease],Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,[CA-VA deficiency],"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.",[615751],,,,,Carbonic anhydrase VA deficiency,TRUE,FALSE,Active +GARD:13202,Active,Orphanet,ORPHA:88639,Disorder,[Disease],Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,"[HIBCH deficiency, Methacrylic aciduria, Valine metabolic defect]","Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.",[250620],,,,,HIBCH deficiency,TRUE,FALSE,Active +GARD:13203,Legacy,GARD,,,,,,,,,,,,Neurodegeneración con acumulación cerebral de hierro,TRUE,TRUE,Active +GARD:13204,Legacy,GARD,,,,,,,,,,,,Neurodegeneración asociada a la proteína beta-propeller,TRUE,TRUE,Active +GARD:13205,Legacy,GARD,,,,,,,,,,,,Síndrome de taquicardia postural ortostática,FALSE,TRUE,Active +GARD:13206,Active,Orphanet,ORPHA:251019,Disorder,[Malformation syndrome],2q32q33 microdeletion syndrome,"[Del(2)(q32), Del(2)(q32q33), Monosomy 2q32, Monosomy 2q32q33]","2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.",[612313],,,,,SATB2-associated syndrome,TRUE,FALSE,Active +GARD:13207,Legacy,GARD,,,,,,,,,,,,Síndrome de Marfan,TRUE,TRUE,Active +GARD:13208,Legacy,GARD,,,,,,,,,,,,Hypertrophic olivary degeneration,TRUE,FALSE,Active +GARD:13209,Active,Orphanet,ORPHA:95496,Disorder,[Morphological anomaly],Pituitary stalk interruption syndrome,"[Ectopic neurohypophysis, PSIS]","Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.",,,,,,Pituitary stalk interruption syndrome,TRUE,FALSE,Active +GARD:13210,Legacy,GARD,,,,,,,,,,,,Aracnodactilia congénita contractural,TRUE,TRUE,Active +GARD:13211,Legacy,GARD,,,,,,,,,,,,Síndrome de pterigium poplíteo,TRUE,TRUE,Active +GARD:13212,Legacy,GARD,,,,,,,,,,,,Síndrome de enclaustramiento,TRUE,TRUE,Active +GARD:13213,Legacy,GARD,,,,,,,,,,,,Síndrome del pañal azul,TRUE,TRUE,Active +GARD:13214,Legacy,GARD,,,,,,,,,,,,Displasia frontometafisaria,TRUE,TRUE,Active +GARD:13215,Active,Orphanet,ORPHA:217071,Group of disorders,[Clinical group],Renal cell carcinoma,[RCC],,,,,,,Renal cell carcinoma,TRUE,FALSE,Active +GARD:13216,Legacy,GARD,,,,,,,,,,,,Gigantismo,TRUE,TRUE,Active +GARD:13217,Legacy,GARD,,,,,,,,,,,,Acromegalia,TRUE,TRUE,Active +GARD:13218,Active,Orphanet,ORPHA:221043,Disorder,[Disease],Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,[POIKTMP syndrome],"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.",[615704],,,,,"Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis",TRUE,FALSE,Active +GARD:13219,Active,Orphanet,ORPHA:289539,Disorder,[Disease],BAP1-related tumor predisposition syndrome,[Tumor susceptibility linked to germline BAP1 mutations],"BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.",[614327],,,,,BAP1 tumor predisposition syndrome,TRUE,FALSE,Active +GARD:1322,Active,Orphanet,ORPHA:1438,Disorder,[Malformation syndrome],Ring chromosome 10 syndrome,"[Ring 10, Ring chromosome 10]","An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.",,,,,,Ring chromosome 10,TRUE,FALSE,Active +GARD:13220,Legacy,GARD,,,,,,,,,,,,Lethal congenital contracture syndrome 11,TRUE,FALSE,Active +GARD:13221,Active,Orphanet,ORPHA:397933,Disorder,[Disease],Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,[IQSEC2-related syndromic intellectual disability],"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.",,,,,,IQSEC2,TRUE,FALSE,Active +GARD:13222,Active,Orphanet,ORPHA:363454,Subtype of disorder,[Etiological subtype],BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"[BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, SMALED2]",,[615290],,,,,"Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2",TRUE,FALSE,Active +GARD:13223,Legacy,GARD,,,,,,,,,,,,Primary bone cancer,TRUE,FALSE,Active +GARD:13224,Legacy,GARD,,,,,,,,,,,,Liver cancer,FALSE,FALSE,Draft +GARD:13225,Legacy,GARD,,,,,,,,,,,,Tonsillar rhabdomyoma,TRUE,FALSE,Draft +GARD:13226,Legacy,GARD,,,,,,,,,,,,Kidney carcinoma,FALSE,FALSE,Retired +GARD:13227,Legacy,GARD,,,,,,,,,,,,Endometriosis of the diaphragm,FALSE,FALSE,Draft +GARD:13228,Legacy,GARD,,,,,,,,,,,,Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase,TRUE,FALSE,Retired +GARD:13229,Legacy,GARD,,,,,,,,,,,,Hepatitis B virus,FALSE,FALSE,Draft +GARD:1323,Active,Orphanet,ORPHA:1580,Disorder,[Malformation syndrome],Distal monosomy 10p,"[Distal 10p deletion, Monosomy 10pter, Telomeric deletion 10p]","Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.",[601362],,,,,Chromosome 10p deletion,TRUE,FALSE,Active +GARD:13230,Legacy,GARD,,,,,,,,,,,,Urticarial vasculitis,FALSE,FALSE,Draft +GARD:13231,Legacy,GARD,,,,,,,,,,,,Síndrome de tortuosidad arterial,TRUE,TRUE,Active +GARD:13232,Active,Orphanet,ORPHA:88619,Disorder,[Disease],Familial acute necrotizing encephalopathy,"[ADANE, Recurrent acute necrotizing encephalopathy]","Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.",[608033],,,,,Infection-induced acute encephalopathy 3,TRUE,FALSE,Active +GARD:13233,Legacy,GARD,,,,,,,,,,,,Acute necrotizing encephalopathy,TRUE,FALSE,Active +GARD:13234,Legacy,GARD,,,,,,,,,,,,central sensitization syndrome,FALSE,FALSE,Draft +GARD:13235,Active,Orphanet+OMIM,OMIM:615524,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, syndromic 12","[Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects]",,[615524],[2470],[Matthew-Wood syndrome],[713],,Syndromic microphthalmia-12,TRUE,FALSE,Active +GARD:13236,Legacy,GARD,,,,,,,,,,,,Síndrome de Proteus,TRUE,TRUE,Active +GARD:13237,Active,Orphanet,ORPHA:300912,Group of disorders,[Clinical group],Marginal zone lymphoma,,,,,,,,Marginal zone lymphoma,TRUE,FALSE,Active +GARD:13238,Legacy,GARD,,,,,,,,,,,,Extracardiac Rhabdomyoma,TRUE,FALSE,Active +GARD:13239,Legacy,GARD,,,,,,,,,,,,Cardiac rhabdomyoma,TRUE,FALSE,Draft +GARD:13240,Legacy,GARD,,,,,,,,,,,,IgM nephropathy,FALSE,FALSE,Draft +GARD:13242,Legacy,GARD,,,,,,,,,,,,Síndrome de Koolen De Vries,TRUE,TRUE,Active +GARD:13243,Legacy,GARD,,,,,,,,,,,,Síndrome de abléfaron - macrostomia,TRUE,TRUE,Active +GARD:13244,Active,Orphanet,ORPHA:85293,Disorder,[Malformation syndrome],"X-linked intellectual disability, Cabezas type",[Cabezas syndrome],"An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.",[300354],,,,,Cabezas syndrome,TRUE,FALSE,Active +GARD:13245,Legacy,GARD,,,,,,,,,,,,Síndrome de Hermansky-Pudlak,TRUE,TRUE,Active +GARD:13246,Legacy,GARD,,,,,,,,,,,,Squamoid Eccrine Ductal Carcinoma,FALSE,FALSE,Draft +GARD:13247,Legacy,GARD,,,,,,,,,,,,Síndrome urémico hemolítico atípico,TRUE,TRUE,Active +GARD:13248,Legacy,GARD,,,,,,,,,,,,Síndrome de Usher,TRUE,TRUE,Active +GARD:13249,Legacy,GARD,,,,,,,,,,,,Raynaud,FALSE,FALSE,Draft +GARD:1325,Active,Orphanet,ORPHA:1439,Disorder,[Malformation syndrome],Ring chromosome 12 syndrome,"[Ring 12, Ring chromosome 12]","Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.",,,,,,Ring chromosome 12,TRUE,FALSE,Active +GARD:13250,Legacy,GARD,,,,,,,,,,,,Nevus epidérmico verrucoso inflamatorio linear,TRUE,TRUE,Active +GARD:13251,Legacy,GARD,,,,,,,,,,,,Porfiria,TRUE,TRUE,Active +GARD:13252,Legacy,GARD,,,,,,,,,,,,Porfiria eritropoyética congénita,TRUE,TRUE,Active +GARD:13253,Legacy,GARD,,,,,,,,,,,,Enfermedad de Whipple,TRUE,TRUE,Active +GARD:13254,Legacy,GARD,,,,,,,,,,,,Skeletal-extraskeletal angiomatosis,TRUE,FALSE,Active +GARD:13255,Legacy,GARD,,,,,,,,,,,,Enfermedad no diagnosticada,FALSE,TRUE,Internal +GARD:13256,Active,Orphanet,ORPHA:449427,Subtype of disorder,[Clinical subtype],IgG4-related pachymeningitis,[Idiopathic hypertrophic pachymeningitis],"A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.",,,,,,Idiopathic hypertrophic pachymeningitis,TRUE,FALSE,Active +GARD:13257,Legacy,GARD,,,,,,,,,,,,hemorrhagic migraines,FALSE,FALSE,Draft +GARD:13258,Legacy,GARD,,,,,,,,,,,,Craneofaringioma,TRUE,TRUE,Active +GARD:13259,Active,Orphanet,ORPHA:352577,Disorder,[Disease],Bainbridge-Ropers syndrome,[Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome],"A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.",[615485],,,,,Bainbridge-Ropers syndrome,TRUE,FALSE,Active +GARD:13260,Legacy,GARD,,,,,,,,,,,,Síndrome de ROHHAD,TRUE,TRUE,Active +GARD:13261,Legacy,GARD,,,,,,,,,,,,lacrimal gland carcinoma,FALSE,FALSE,Draft +GARD:13262,Legacy,GARD,,,,,,,,,,,,Síndrome de Bannayan-Riley-Ruvalcaba,TRUE,TRUE,Active +GARD:13263,Legacy,GARD,,,,,,,,,,,,KIF1A disorder,FALSE,FALSE,Draft +GARD:13264,Active,Orphanet,ORPHA:313850,Disorder,[Disease],Infantile cerebellar-retinal degeneration,,"Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.",[614559],,,,,Infantile cerebellar retinal degeneration,TRUE,FALSE,Active +GARD:13265,Legacy,GARD,,,,,,,,,,,,Sticky platelet syndrome,FALSE,FALSE,Active +GARD:13266,Legacy,GARD,,,,,,,,,,,,Síndrome de Freeman-Sheldon,TRUE,TRUE,Active +GARD:13267,Legacy,GARD,,,,,,,,,,,,Síndrome de microdeleción 2q37,TRUE,TRUE,Active +GARD:13268,Legacy,GARD,,,,,,,,,,,,C3 glomerulopathy,FALSE,FALSE,Draft +GARD:13269,Legacy,GARD,,,,,,,,,,,,Severely deficient autobiographical memory,FALSE,FALSE,Draft +GARD:1327,Active,Orphanet,ORPHA:1703,Disorder,[Malformation syndrome],Mosaic trisomy 14,"[Mosaic trisomy chromosome 14, Trisomy 14 mosaicism]","Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.",,,,,,Mosaic trisomy 14,TRUE,FALSE,Active +GARD:13270,Legacy,GARD,,,,,,,,,,,,Extranodal nasal NK/T cell lymphoma,TRUE,FALSE,Active +GARD:13271,Legacy,GARD,,,,,,,,,,,,Deficiencia de arginasa,TRUE,TRUE,Active +GARD:13272,Legacy,GARD,,,,,,,,,,,,Autosomal recessive spinocerebellar ataxia 16,FALSE,FALSE,Draft +GARD:13273,Active,Orphanet,ORPHA:284417,Subtype of disorder,[Etiological subtype],"Phosphoserine aminotransferase deficiency, infantile/juvenile form","[PSAT deficiency, infantile/juvenile form]","Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.",[610992],,,,,Phosphoserine aminotransferase deficiency,TRUE,FALSE,Active +GARD:13274,Legacy,GARD,,,,,,,,,,,,Sudden unexplained death in childhood,FALSE,FALSE,Draft +GARD:13275,Legacy,GARD,,,,,,,,,,,,Multiple food allergy,FALSE,FALSE,Draft +GARD:13276,Legacy,GARD,,,,,,,,,,,,2q32q33 microdeletion,FALSE,FALSE,Retired +GARD:13277,Legacy,GARD,,,,,,,,,,,,HaNDL syndrome,TRUE,FALSE,Active +GARD:13278,Legacy,GARD,,,,,,,,,,,,Síndrome de la deleción 22q11.2,TRUE,TRUE,Active +GARD:13279,Legacy,GARD,,,,,,,,,,,,Deficiencia de carnitina-acilcarnitina translocasa,TRUE,TRUE,Active +GARD:1328,Active,Orphanet,ORPHA:96177,Disorder,[Malformation syndrome],Ring chromosome 15 syndrome,"[Ring 15, Ring chromosome 15]","A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).",,,,,,Ring chromosome 15,TRUE,FALSE,Active +GARD:13280,Legacy,GARD,,,,,,,,,,,,Aspergillus flavus,FALSE,FALSE,Draft +GARD:13281,Legacy,GARD,,,,,,,,,,,,Tailgut cyst,FALSE,FALSE,Draft +GARD:13282,Legacy,GARD,,,,,,,,,,,,Liquen plano oral,FALSE,TRUE,Draft +GARD:13283,Legacy,GARD,,,,,,,,,,,,Congenital pulmonary airway malf.,FALSE,FALSE,Retired +GARD:13284,Legacy,GARD,,,,,,,,,,,,Síndrome fetal del valproato,TRUE,TRUE,Active +GARD:13285,Legacy,GARD,,,,,,,,,,,,Síndrome renal del cascanueces,TRUE,TRUE,Active +GARD:13286,Legacy,GARD,,,,,,,,,,,,Trastorno del habla y del lenguaje tipo 1,TRUE,TRUE,Draft +GARD:13287,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hailey-Hailey,TRUE,TRUE,Active +GARD:13288,Legacy,GARD,,,,,,,,,,,,vulvodynia,FALSE,FALSE,Draft +GARD:13289,Legacy,GARD,,,,,,,,,,,,Osmotic demyelination syndrome,FALSE,FALSE,Draft +GARD:13290,Legacy,GARD,,,,,,,,,,,,Deficiencia familiar de LCAT,TRUE,TRUE,Active +GARD:13291,Legacy,GARD,,,,,,,,,,,,Natural killer cell deficiency,FALSE,FALSE,Draft +GARD:13292,Legacy,GARD,,,,,,,,,,,,Síndrome de Hashimoto-Pritzker,TRUE,TRUE,Active +GARD:13293,Active,Orphanet,ORPHA:98885,Subtype of disorder,[Etiological subtype],Bleeding diathesis due to glycoprotein VI deficiency,,,[614201],,,,,Glycoprotein VI deficiency,TRUE,FALSE,Active +GARD:13294,Legacy,GARD,,,,,,,,,,,,Ankyrin-B syndrome,TRUE,FALSE,Active +GARD:13295,Active,Orphanet,ORPHA:98820,Disorder,[Disease],Familial focal epilepsy with variable foci,"[FFEVF, Familial partial epilepsy with variable foci]","Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.","[617118, 604364, 617116]",,,,,Familial focal epilepsy with variable foci,TRUE,FALSE,Active +GARD:13296,Active,Orphanet,ORPHA:261272,Disorder,[Malformation syndrome],17q12 microduplication syndrome,"[Dup(17)(q12), Trisomy 17q12]","17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.",[614526],,,,,17q12 duplication,TRUE,FALSE,Active +GARD:13297,Active,Orphanet,ORPHA:261265,Disorder,[Malformation syndrome],17q12 microdeletion syndrome,"[Del(17)(q12), Monosomy 17q12]","17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.",[614527],,,,,17q12 deletion syndrome,TRUE,FALSE,Active +GARD:13298,Active,Orphanet,ORPHA:369897,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","[mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies]","A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.",[615471],,,,,FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13299,Legacy,GARD,,,,,,,,,,,,DEPDC5-Related Epilepsy,TRUE,FALSE,Active +GARD:133,Legacy,GARD,,,,,,,,,,,,"Aganglionosis, total intestinal",TRUE,FALSE,Active +GARD:13300,Legacy,GARD,,,,,,,,,,,,Síndrome de West,TRUE,TRUE,Active +GARD:13301,Legacy,GARD,,,,,,,,,,,,central sleep apnea,FALSE,FALSE,Draft +GARD:13302,Legacy,GARD,,,,,,,,,,,,Mielofibrosis,TRUE,TRUE,Active +GARD:13303,Legacy,GARD,,,,,,,,,,,,oculopalatal myoclonus,FALSE,FALSE,Draft +GARD:13304,Legacy,GARD,,,,,,,,,,,,Neuralgic amyotrophy,TRUE,FALSE,Draft +GARD:13305,Legacy,GARD,,,,,,,,,,,,Síndrome de Parsonage-Turner,TRUE,TRUE,Active +GARD:13306,Legacy,GARD,,,,,,,,,,,,Síndrome del intestino corto,TRUE,TRUE,Active +GARD:13307,Legacy,GARD,,,,,,,,,,,,Necrotizing autoimmune myopathy,TRUE,FALSE,Active +GARD:13308,Legacy,GARD,,,,,,,,,,,,Síndrome de hiperinmunoglobulinemia D,TRUE,TRUE,Active +GARD:13309,Legacy,GARD,,,,,,,,,,,,Síndrome de inmunodeficiencias combinadas severas,TRUE,TRUE,Retired +GARD:13310,Legacy,GARD,,,,,,,,,,,,Duplicacion del cromosoma 1q,FALSE,TRUE,Retired +GARD:13311,Legacy,GARD,,,,,,,,,,,,Vitamin B12 deficiency,FALSE,FALSE,Draft +GARD:13312,Legacy,GARD,,,,,,,,,,,,Inmunodeficiencia combinada grave,TRUE,TRUE,Active +GARD:13313,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo clásico,TRUE,TRUE,Active +GARD:13314,Legacy,GARD,,,,,,,,,,,,Displasia fibrosa,TRUE,TRUE,Active +GARD:13315,Legacy,GARD,,,,,,,,,,,,Excited delirium syndrome,FALSE,FALSE,Draft +GARD:13316,Active,Orphanet,ORPHA:398069,Disorder,[Disease],MAGEL2-related Prader-Willi-like syndrome,"[MAGEL2-related PWLS, Schaaf-Yang syndrome]",,[615547],,,,,Schaaf-Yang syndrome,TRUE,FALSE,Active +GARD:13317,Legacy,GARD,,,,,,,,,,,,Síndrome de Carey-Fineman-Ziter,TRUE,TRUE,Active +GARD:13318,Active,Orphanet+OMIM,OMIM:613722,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 12,"[Epileptic encephalopathy, early infantile, 12]","Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by {1:Kurian et al., 2010} and {2:Poduri et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[613722],"[293181, 3451]","[Infantile spasms syndrome, Malignant migrating focal seizures of infancy]","[12919, 7887]",,Early Infantile Epileptic Encephalopathy 12,TRUE,FALSE,Active +GARD:13319,Active,Orphanet,ORPHA:438178,Disorder,[Disease],Fatty acyl-CoA reductase 1 deficiency,"[FAR1 deficiency, PFCRD, Peroxisomal fatty acyl-CoA reductase 1 disorder]","A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.",[616154],,,,,Peroxisomal fatty acyl-CoA reductase 1 disorder,TRUE,FALSE,Draft +GARD:13320,Active,Orphanet,ORPHA:468717,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 5,,,[616716],,,,,Rhizomelic chondrodysplasia punctata type 5,TRUE,FALSE,Draft +GARD:13321,Legacy,GARD,,,,,,,,,,,,Peroxisomal disorders,TRUE,FALSE,Retired +GARD:13322,Legacy,GARD,,,,,,,,,,,,Condrodisplasia punctata rizomélica,TRUE,FALSE,Active +GARD:13323,Legacy,GARD,,,,,,,,,,,,Neurodegeneración asociada a pantotenato-quinasa,TRUE,TRUE,Active +GARD:13324,Legacy,GARD,,,,,,,,,,,,Sinostosis radiocubital congénita,TRUE,TRUE,Active +GARD:13325,Legacy,GARD,,,,,,,,,,,,Duplicaciones parciales del cromosoma 1q,TRUE,TRUE,Active +GARD:13326,Legacy,GARD,,,,,,,,,,,,Parálisis periódica familiar,TRUE,TRUE,Active +GARD:13327,Legacy,GARD,,,,,,,,,,,,Displasias ectodérmicas,TRUE,TRUE,Active +GARD:13328,Legacy,GARD,,,,,,,,,,,,Reactive perforating collagenosis,FALSE,FALSE,Draft +GARD:13329,Legacy,GARD,,,,,,,,,,,,Síndrome de la nieve visual,TRUE,TRUE,Active +GARD:1333,Active,Orphanet,ORPHA:1443,Disorder,[Malformation syndrome],Ring chromosome 19 syndrome,"[Ring 19, Ring chromosome 19]","Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.",,,,,,Ring chromosome 19,TRUE,FALSE,Active +GARD:13330,Legacy,GARD,,,,,,,,,,,,Hiperplasia difusa idiopática de células neuroendocrinas pulmonares,TRUE,TRUE,Active +GARD:13331,Active,Orphanet,ORPHA:79147,Disorder,[Disease],Familial reactive perforating collagenosis,,Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.,[216700],,,,,Familial reactive perforating collagenosis,TRUE,FALSE,Active +GARD:13332,Legacy,GARD,,,,,,,,,,,,PHIP related disease,FALSE,FALSE,Retired +GARD:13333,Legacy,GARD,,,,,,,,,,,,Complejo extrofia-epispadias,TRUE,TRUE,Active +GARD:13334,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease,TRUE,FALSE,Active +GARD:13335,Legacy,GARD,,,,,,,,,,,,Síndrome de la persona rígida,TRUE,TRUE,Active +GARD:13336,Legacy,GARD,,,,,,,,,,,,Interstitial lung disease,FALSE,FALSE,Active +GARD:13337,Active,Orphanet,ORPHA:98300,Group of disorders,[Clinical group],Idiopathic interstitial pneumonia,,,,,,,,Idiopathic interstitial pneumonia,TRUE,FALSE,Draft +GARD:13338,Legacy,GARD,,,,,,,,,,,,Pott disease,FALSE,FALSE,Draft +GARD:13339,Active,Orphanet,ORPHA:464336,Disorder,[Disease],BENTA disease,[B-cell expansion with NF-kB and T-cell anergy disease],"A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.",[616452],,,,,BENTA disease,TRUE,FALSE,Active +GARD:1334,Active,Orphanet,ORPHA:1444,Disorder,[Malformation syndrome],Ring chromosome 20 syndrome,"[Ring 20, Ring chromosome 20]","A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.",,,,,,Ring chromosome 20,TRUE,FALSE,Active +GARD:13340,Legacy,GARD,,,,,,,,,,,,Síndrome de Klippel Feil,TRUE,TRUE,Active +GARD:13341,Legacy,GARD,,,,,,,,,,,,Vaginal agenesis,FALSE,FALSE,Draft +GARD:13342,Legacy,GARD,,,,,,,,,,,,Lupus,FALSE,TRUE,Active +GARD:13343,Legacy,GARD,,,,,,,,,,,,Síndrome de Dandy-Walker,TRUE,TRUE,Draft +GARD:13344,Legacy,GARD,,,,,,,,,,,,Malformación de Chiari tipo 1,TRUE,TRUE,Active +GARD:13345,Legacy,GARD,,,,,,,,,,,,Chromosomal Abnormalities,FALSE,FALSE,Internal +GARD:13346,Legacy,GARD,,,,,,,,,,,,Anomalías Cromosómicas,FALSE,TRUE,Internal +GARD:13347,Legacy,GARD,,,,,,,,,,,,Diplejía espástica,TRUE,TRUE,Active +GARD:13348,Legacy,GARD,,,,,,,,,,,,pancreatic divisum,FALSE,FALSE,Draft +GARD:13349,Active,Orphanet,ORPHA:420584,Disorder,[Malformation syndrome],Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,[Culler-Jones syndrome],"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.",[615849],,,,,Culler-Jones syndrome,TRUE,FALSE,Active +GARD:13350,Legacy,GARD,,,,,,,,,,,,fatty acid oxidation,FALSE,FALSE,Draft +GARD:13351,Legacy,GARD,,,,,,,,,,,,Xantomatosis cerebrotendinosa,TRUE,TRUE,Active +GARD:13352,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo vascular,TRUE,TRUE,Active +GARD:13353,Legacy,GARD,,,,,,,,,,,,Mesenteritis esclerosante,TRUE,TRUE,Active +GARD:13354,Active,Orphanet,ORPHA:35737,Disorder,[Morphological anomaly],Morning glory disc anomaly,"[Ectasic coloboma, Morning glory syndrome]","A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.",[120430],,,,,Morning glory syndrome,TRUE,FALSE,Active +GARD:13355,Legacy,GARD,,,,,,,,,,,,SCN2A related disorders,TRUE,FALSE,Active +GARD:13356,Legacy,GARD,,,,,,,,,,,,Non syndromic intellectual disability type 58,FALSE,FALSE,Retired +GARD:13357,Legacy,GARD,,,,,,,,,,,,Síndrome 'Morning glory',TRUE,TRUE,Active +GARD:13358,Legacy,GARD,,,,,,,,,,,,Cáncer de mama hereditario,TRUE,TRUE,Active +GARD:13359,Legacy,GARD,,,,,,,,,,,,Enfermedad de Ledderhose,TRUE,TRUE,Active +GARD:1336,Active,Orphanet,ORPHA:1446,Disorder,[Malformation syndrome],Ring chromosome 22 syndrome,"[Ring 22, Ring chromosome 22, r(22) syndrome]","Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.",,,,,,Ring chromosome 22,TRUE,FALSE,Active +GARD:13360,Legacy,GARD,,,,,,,,,,,,Popliteal artery entrapment syndrome,FALSE,FALSE,Draft +GARD:13361,Legacy,GARD,,,,,,,,,,,,Autosomal recessive intellectual disability 58,TRUE,FALSE,Active +GARD:13362,Legacy,GARD,,,,,,,,,,,,Malformaciones linfáticas,TRUE,TRUE,Active +GARD:13363,Legacy,GARD,,,,,,,,,,,,pulmonary aveolar proteinosis,FALSE,FALSE,Draft +GARD:13364,Legacy,GARD,,,,,,,,,,,,Non-asthmatic eosinophilic bronchitis,FALSE,FALSE,Draft +GARD:13365,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de cinturas autosómica recesiva tipo 2A,TRUE,TRUE,Active +GARD:13366,Legacy,GARD,,,,,,,,,,,,essential iris atrophy,FALSE,FALSE,Draft +GARD:13367,Legacy,GARD,,,,,,,,,,,,Deformidad de Madelung,TRUE,TRUE,Active +GARD:13368,Legacy,GARD,,,,,,,,,,,,Discondrosteosis de Léri-Weill,TRUE,TRUE,Active +GARD:13369,Legacy,GARD,,,,,,,,,,,,Calcium apatite deposition disease (CADD),FALSE,FALSE,Draft +GARD:13370,Legacy,GARD,,,,,,,,,,,,Histiocitosis de células de Langerhans,TRUE,TRUE,Active +GARD:13371,Active,Orphanet,ORPHA:324972,Disorder,[Disease],MAGIC syndrome,[Mouth and genital ulcers-inflamed cartilage syndrome],"A rare autoinflammatory syndrome characterized by the presence of features of relapsing polychondritis and Behçet's disease in the same individual. This includes cartilage inflammation of the ears, nose, throat, and rib cage, as well as recurrent oral and genital ulcers, respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, central nervous system vasculitis, or, in rare cases, arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behçet's disease in the vast majority of cases.",,,,,,MAGIC syndrome,TRUE,FALSE,Active +GARD:13372,Legacy,GARD,,,,,,,,,,,,Traumatic ulcerative granuloma,FALSE,FALSE,Draft +GARD:13373,Legacy,GARD,,,,,,,,,,,,GATA2 deficiency,TRUE,FALSE,Active +GARD:13374,Legacy,GARD,,,,,,,,,,,,Alopecia universal,TRUE,TRUE,Active +GARD:13375,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de Duchenne,TRUE,TRUE,Active +GARD:13376,Active,Orphanet+OMIM,OMIM:614135,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 6",,,[614135],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 6,TRUE,FALSE,Active +GARD:13377,Legacy,GARD,,,,,,,,,,,,Síndrome de Weill-Marchesani,TRUE,TRUE,Active +GARD:13378,Active,Orphanet+OMIM,OMIM:615473,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 17,"[Epileptic encephalopathy, early infantile, 17]","Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by {2:Nakamura et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615473],[1934],[Early infantile epileptic encephalopathy],[9255],,GNAO1 encephalopathy,TRUE,FALSE,Active +GARD:13379,Active,Orphanet+OMIM,OMIM:616078,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 29","[Mental retardation, autosomal dominant 29]",,[616078],[436151],[Intellectual disability-expressive aphasia-facial dysmorphism syndrome],[17724],,SETBP1 disorder,TRUE,FALSE,Active +GARD:13380,Legacy,GARD,,,,,,,,,,,,benign fasciculation syndrome,FALSE,FALSE,Draft +GARD:13381,Legacy,GARD,,,,,,,,,,,,Leukoencephalopathy with thalamus and brainstem involvement and high lactate,TRUE,FALSE,Active +GARD:13382,Legacy,GARD,,,,,,,,,,,,Arteritis de células gigantes,TRUE,TRUE,Active +GARD:13383,Legacy,GARD,,,,,,,,,,,,Síndrome de microduplicación 7q11.23,TRUE,TRUE,Active +GARD:13384,Legacy,GARD,,,,,,,,,,,,Hepatopulmonary syndrome,TRUE,FALSE,Active +GARD:13385,Legacy,GARD,,,,,,,,,,,,NUT midline carcinoma,FALSE,FALSE,Draft +GARD:13386,Legacy,GARD,,,,,,,,,,,,Telangiectasia hemorrágica hereditaria,TRUE,TRUE,Active +GARD:13387,Legacy,GARD,,,,,,,,,,,,Aneurysm,FALSE,FALSE,Draft +GARD:13388,Active,Orphanet,ORPHA:528,Disorder,[Disease],Congenital generalized lipodystrophy,"[BSCL, Berardinelli-Seip congenital lipodystrophy, Berardinelli-Seip syndrome, CGL, Lipoatrophic diabetes]","A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.","[269700, 612526, 613327, 606721, 608594]",,,,,Congenital generalized lipodystrophy,TRUE,FALSE,Active +GARD:13389,Active,Orphanet+OMIM,OMIM:612526,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 3","[lipodystrophy, berardinelli-seip congenital, type 3, Berardinelli-seip congenital lipodystrophy, type 3]","Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes ({1:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[612526],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 3,TRUE,FALSE,Active +GARD:1339,Active,Orphanet,ORPHA:1447,Disorder,[Malformation syndrome],Ring chromosome 4 syndrome,"[Ring 4, Ring chromosome 4, Syndrome r(4), r(4) syndrome]","Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.",,,,,,Ring chromosome 4,TRUE,FALSE,Active +GARD:13390,Active,Orphanet,ORPHA:94063,Disorder,[Malformation syndrome],12q14 microdeletion syndrome,"[Del(12)(q14), Deletion 12q14, Monosomy 12q14, Osteopoikilosis-short stature-intellectual disability syndrome]","12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.",,,,,,12q14 microdeletion syndrome,TRUE,FALSE,Active +GARD:13391,Active,Orphanet,ORPHA:261349,Disorder,[Malformation syndrome],2p15p16.1 microdeletion syndrome,"[Del(2)(p15p16.1), Monosomy 2p15p16.1]",2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.,[612513],,,,,2p15p16.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:13392,Legacy,GARD,,,,,,,,,,,,16p13.11 microduplication syndrome,TRUE,FALSE,Active +GARD:13393,Legacy,GARD,,,,,,,,,,,,Síndrome de Culler-Jones,TRUE,TRUE,Active +GARD:13394,Legacy,GARD,,,,,,,,,,,,Myopic macular degeneration,FALSE,FALSE,Draft +GARD:13395,Legacy,GARD,,,,,,,,,,,,neurally mediated hypotension,FALSE,FALSE,Draft +GARD:13396,Legacy,GARD,,,,,,,,,,,,Síndrome de Alagille,TRUE,TRUE,Active +GARD:13397,Legacy,GARD,,,,,,,,,,,,Miotonía congénita,TRUE,TRUE,Active +GARD:13398,Legacy,GARD,,,,,,,,,,,,Cutaneous vasculitis,FALSE,FALSE,Draft +GARD:13399,Legacy,GARD,,,,,,,,,,,,Patellofemoral dysplasia,FALSE,FALSE,Draft +GARD:134,Active,Orphanet,ORPHA:93346,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).",[184250],,,,,Spondyloepimetaphyseal dysplasia Strudwick type,TRUE,FALSE,Active +GARD:1340,Legacy,GARD,,,,,,,,,,,,Chromosome 4q deletion,TRUE,FALSE,Active +GARD:13400,Legacy,GARD,,,,,,,,,,,,Enfermedad de Gaucher,TRUE,TRUE,Active +GARD:13401,Legacy,GARD,,,,,,,,,,,,Distal acquired demyelinating symmetric neuropathy,FALSE,FALSE,Draft +GARD:13402,Legacy,GARD,,,,,,,,,,,,Papillary glioneuronal tumors,TRUE,FALSE,Active +GARD:13403,Legacy,GARD,,,,,,,,,,,,Prurigo nodular,TRUE,TRUE,Active +GARD:13404,Legacy,GARD,,,,,,,,,,,,persistent trigeminal artery,FALSE,FALSE,Draft +GARD:13405,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa tipo 13,TRUE,TRUE,Active +GARD:13406,Legacy,GARD,,,,,,,,,,,,Limbic encephalitis with LGI1 antibodies,TRUE,FALSE,Active +GARD:13407,Legacy,GARD,,,,,,,,,,,,Schwannoma,TRUE,TRUE,Active +GARD:13408,Legacy,GARD,,,,,,,,,,,,Intestinal neuronal dysplasia type B,FALSE,FALSE,Draft +GARD:13409,Active,Orphanet,ORPHA:412069,Disorder,[Malformation syndrome],AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,[Xia-Gibbs syndrome],"A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.",[615829],,,,,Xia-Gibbs syndrome,TRUE,FALSE,Active +GARD:13410,Legacy,GARD,,,,,,,,,,,,Esclerosis tuberosa,TRUE,TRUE,Active +GARD:13411,Legacy,GARD,,,,,,,,,,,,Enfermedad de Parkinson,FALSE,TRUE,Active +GARD:13412,Legacy,GARD,,,,,,,,,,,,Hair heterochromia,FALSE,FALSE,Draft +GARD:13413,Legacy,GARD,,,,,,,,,,,,Síndrome de Pallister-Hall,TRUE,TRUE,Active +GARD:13414,Legacy,GARD,,,,,,,,,,,,Síndrome de Singleton-Merten,TRUE,TRUE,Active +GARD:13415,Legacy,GARD,,,,,,,,,,,,Uniparental disomy 6,FALSE,FALSE,Retired +GARD:13416,Legacy,GARD,,,,,,,,,,,,"46,XX,13ps+",FALSE,FALSE,Draft +GARD:13417,Legacy,GARD,,,,,,,,,,,,Giggle incontinence,FALSE,FALSE,Draft +GARD:13418,Active,Orphanet,ORPHA:453504,Subtype of disorder,[Etiological subtype],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,,,[616580],,,,,Au-Kline syndrome,TRUE,FALSE,Draft +GARD:13419,Legacy,GARD,,,,,,,,,,,,Atrofia multisistémica,TRUE,TRUE,Active +GARD:13420,Legacy,GARD,,,,,,,,,,,,Aciduria D-2-hidroxiglutárica,TRUE,TRUE,Draft +GARD:13421,Legacy,GARD,,,,,,,,,,,,Síndrome de Wiskott-Aldrich,TRUE,TRUE,Active +GARD:13422,Legacy,GARD,,,,,,,,,,,,Rahman syndrome,TRUE,FALSE,Active +GARD:13423,Active,Orphanet,ORPHA:480864,Disorder,[Disease],Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,[TANGO2-related metabolic encephalopathy-arrhythmia syndrome],"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.",[616878],,,,,TANGO2-Related Metabolic Encephalopathy and Arrhythmias,TRUE,FALSE,Active +GARD:13424,Legacy,GARD,,,,,,,,,,,,Trisomía 13,TRUE,TRUE,Active +GARD:13425,Active,Orphanet,ORPHA:447997,Disorder,[Disease],Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,"[ASCT1 deficiency, Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome]","A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.",[616657],,,,,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,TRUE,FALSE,Active +GARD:13426,Legacy,GARD,,,,,,,,,,,,Paraparesia espástica tropical,TRUE,TRUE,Active +GARD:13427,Legacy,GARD,,,,,,,,,,,,Nevo melanocítico congénito gigante,TRUE,TRUE,Active +GARD:13428,Legacy,GARD,,,,,,,,,,,,ilioinguinal nerve entrapment,FALSE,FALSE,Draft +GARD:13429,Legacy,GARD,,,,,,,,,,,,Lichen simplex chronicus,FALSE,FALSE,Draft +GARD:13430,Legacy,GARD,,,,,,,,,,,,Quistes aracnoideos,TRUE,TRUE,Active +GARD:13431,Active,Orphanet,ORPHA:254516,Disorder,[Malformation syndrome],Temple syndrome,,"Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).",[616222],,,,,Temple syndrome,TRUE,FALSE,Active +GARD:13432,Legacy,GARD,,,,,,,,,,,,Hiperinsulinismo congénito,TRUE,TRUE,Active +GARD:13433,Legacy,GARD,,,,,,,,,,,,Pleuroparenchymal fibroelastosis,TRUE,FALSE,Active +GARD:13434,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis, distal, with impaired proprioception and touch",TRUE,FALSE,Draft +GARD:13435,Legacy,GARD,,,,,,,,,,,,Epilepsia mioclónica juvenil,TRUE,TRUE,Active +GARD:13436,Legacy,GARD,,,,,,,,,,,,inborn error of metabolism,FALSE,FALSE,Draft +GARD:13437,Legacy,GARD,,,,,,,,,,,,Síndrome de la piel rígida,TRUE,TRUE,Active +GARD:13438,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi-Goutières,TRUE,TRUE,Active +GARD:13439,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi-Goutieres,TRUE,TRUE,Retired +GARD:13440,Legacy,GARD,,,,,,,,,,,,Psoriatic arthritis,FALSE,FALSE,Draft +GARD:13441,Legacy,GARD,,,,,,,,,,,,Congenital Zika syndrome,TRUE,FALSE,Active +GARD:13442,Legacy,GARD,,,,,,,,,,,,Bain type of X-linked syndromic intellectual disability,TRUE,FALSE,Active +GARD:13443,Legacy,GARD,,,,,,,,,,,,Tumores del Estroma Gastrointestinal,TRUE,TRUE,Active +GARD:13444,Legacy,GARD,,,,,,,,,,,,Selective serotonin reuptake inhibitors (SSRIs) adverse effects,FALSE,FALSE,Draft +GARD:13445,Legacy,GARD,,,,,,,,,,,,Neuroendocrine tumor,TRUE,FALSE,Active +GARD:13446,Active,Orphanet,ORPHA:86855,Disorder,[Disease],Plasmacytoma,[Solitary plasmacytoma],"Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.",,,,,,Plasmacytoma,TRUE,FALSE,Active +GARD:13447,Active,Orphanet,ORPHA:313936,Disorder,[Disease],PENS syndrome,[Papular epidermal nevi with skyline basal cell layers syndrome],"PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.",,,,,,Papular epidermal nevi with skyline basal cell layers syndrome,TRUE,FALSE,Active +GARD:13448,Legacy,GARD,,,,,,,,,,,,Síndrome de nevus epidérmico papuloso con capas de células basales 'en horizonte',TRUE,TRUE,Active +GARD:13449,Legacy,GARD,,,,,,,,,,,,Submandibular sialolithiasis,FALSE,FALSE,Draft +GARD:1345,Active,Orphanet,ORPHA:1449,Disorder,[Malformation syndrome],Ring chromosome 7 syndrome,"[Ring 7, Ring chromosome 7]","Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).",,,,,,Ring chromosome 7,TRUE,FALSE,Active +GARD:13450,Legacy,GARD,,,,,,,,,,,,Síndrome odontotricomélico,TRUE,TRUE,Active +GARD:13451,Active,Orphanet,ORPHA:464329,Disorder,[Disease],Kaposiform lymphangiomatosis,,"A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.",,,,,,Kaposiform lymphangiomatosis,TRUE,FALSE,Active +GARD:13452,Legacy,GARD,,,,,,,,,,,,Granulomatosis eosinofílica con poliangitis,TRUE,TRUE,Active +GARD:13453,Legacy,GARD,,,,,,,,,,,,Copper toxicity,FALSE,FALSE,Draft +GARD:13454,Legacy,GARD,,,,,,,,,,,,Síndrome PURA,TRUE,TRUE,Active +GARD:13455,Legacy,GARD,,,,,,,,,,,,Jackhammer esophagus,TRUE,FALSE,Active +GARD:13456,Legacy,GARD,,,,,,,,,,,,Síndrome CREST,TRUE,TRUE,Active +GARD:13457,Legacy,GARD,,,,,,,,,,,,Anti-PIT-1 antibody syndrome,TRUE,FALSE,Active +GARD:13458,Legacy,GARD,,,,,,,,,,,,Pseudomixoma peritoneal,TRUE,TRUE,Active +GARD:13459,Legacy,GARD,,,,,,,,,,,,Red ear syndrome,FALSE,FALSE,Draft +GARD:1346,Legacy,GARD,,,,,,,,,,,,Chromosome 7p deletion,TRUE,FALSE,Active +GARD:13460,Legacy,GARD,,,,,,,,,,,,Mycobacterium asiaticum,FALSE,FALSE,Draft +GARD:13461,Active,Orphanet,ORPHA:217330,Subtype of disorder,[Clinical subtype],REN-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-REN, FJHN type 2, Familial juvenile hyperuricemic nephropathy type 2, REN-associated FJHN, REN-associated familial juvenile hyperuricemic nephropathy, REN-associated kidney disease]","Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).",[613092],,,,,Autosomal dominant tubulointerstitial kidney disease due to REN mutations,TRUE,FALSE,Active +GARD:13462,Legacy,GARD,,,,,,,,,,,,Atrofia hemifacial progresiva,TRUE,TRUE,Active +GARD:13463,Legacy,GARD,,,,,,,,,,,,Aspirin-like defect,FALSE,FALSE,Draft +GARD:13464,Legacy,GARD,,,,,,,,,,,,Leucemia de células pilosas,TRUE,TRUE,Active +GARD:13465,Legacy,GARD,,,,,,,,,,,,Anti-GAD antibody-associated cerebellar ataxia,FALSE,FALSE,Draft +GARD:13466,Legacy,GARD,,,,,,,,,,,,17q12 triplication,FALSE,FALSE,Draft +GARD:13467,Legacy,GARD,,,,,,,,,,,,Adrenoleucodistrofia ligada al cromosoma X,TRUE,TRUE,Active +GARD:13468,Legacy,GARD,,,,,,,,,,,,Ethambutol toxic optic neuropathy,FALSE,FALSE,Draft +GARD:13469,Legacy,GARD,,,,,,,,,,,,Fragile X–associated tremor/ataxia syndrome,FALSE,FALSE,Draft +GARD:1347,Active,Orphanet,ORPHA:1450,Disorder,[Malformation syndrome],Ring chromosome 8 syndrome,"[Ring 8, Ring chromosome 8, r(8) syndrome]","A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.",,,,,,Ring chromosome 8,TRUE,FALSE,Active +GARD:13470,Legacy,GARD,,,,,,,,,,,,filamentary keratopathy,FALSE,FALSE,Draft +GARD:13471,Legacy,GARD,,,,,,,,,,,,Síndrome de Klinefelter,FALSE,TRUE,Active +GARD:13472,Active,Orphanet,ORPHA:247790,Disorder,[Disease],FTH1-related iron overload,[FTH1-associated iron overload],"A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.",[615517],,,,,Hemochromatosis type 5,TRUE,FALSE,Active +GARD:13473,Legacy,GARD,,,,,,,,,,,,Osteogénesis imperfecta,TRUE,TRUE,Active +GARD:13474,Active,Orphanet,ORPHA:468620,Disorder,[Disease],Intellectual disability-epilepsy-extrapyramidal syndrome,,"A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.",[617171],,,,,DEAF1-associated disorders,TRUE,FALSE,Active +GARD:13475,Legacy,GARD,,,,,,,,,,,,Brachioradial pruritus,FALSE,FALSE,Draft +GARD:13476,Legacy,GARD,,,,,,,,,,,,Mastocitosis,TRUE,TRUE,Active +GARD:13477,Legacy,GARD,,,,,,,,,,,,Mold toxicity,FALSE,FALSE,Draft +GARD:13478,Legacy,GARD,,,,,,,,,,,,Endosalpingiosis,FALSE,FALSE,Draft +GARD:13479,Legacy,GARD,,,,,,,,,,,,Autoimmune enteric leiomyositis,FALSE,FALSE,Draft +GARD:1348,Active,Orphanet,ORPHA:96173,Disorder,[Malformation syndrome],Ring chromosome 9 syndrome,"[Ring 9, Ring chromosome 9]","Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.",,,,,,Ring chromosome 9,TRUE,FALSE,Active +GARD:13480,Legacy,GARD,,,,,,,,,,,,"Cleft palate, cardiac defects, and intellectual disability",TRUE,FALSE,Active +GARD:13481,Legacy,GARD,,,,,,,,,,,,Meckel's diverticulem cancer,FALSE,FALSE,Draft +GARD:13482,Legacy,GARD,,,,,,,,,,,,Síndrome de Larsen,TRUE,TRUE,Active +GARD:13483,Legacy,GARD,,,,,,,,,,,,Leucemia de linfocitos grandes y granulares,TRUE,TRUE,Active +GARD:13484,Legacy,GARD,,,,,,,,,,,,Dyscalculia,FALSE,FALSE,Draft +GARD:13485,Legacy,GARD,,,,,,,,,,,,MEPA,FALSE,FALSE,Retired +GARD:13486,Legacy,GARD,,,,,,,,,,,,Lipomatosis familiar múltiple,TRUE,TRUE,Active +GARD:13487,Legacy,GARD,,,,,,,,,,,,Corneal neuropathic disease,TRUE,FALSE,Active +GARD:13488,Active,Orphanet,ORPHA:508093,Disorder,[Malformation syndrome],MEPAN syndrome,"[Autosomal recessive childhood-onset dystonia, DYT29 type, Childhood-onset generalized dystonia-optic atrophy syndrome, DYT29, Dystonia 29, Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome]","A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.",[617282],,,,,MEPAN syndrome,TRUE,FALSE,Active +GARD:13489,Active,Orphanet,ORPHA:500150,Disorder,[Malformation syndrome],Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,"[ZTTK syndrome, Zhu-Tokita-Takenouchi-Kim syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.",[617140],,,,,ZTTK syndrome,TRUE,FALSE,Active +GARD:13490,Legacy,GARD,,,,,,,,,,,,Chromosome 7 inversion,FALSE,FALSE,Draft +GARD:13491,Legacy,GARD,,,,,,,,,,,,Síndrome OPHN1,TRUE,TRUE,Active +GARD:13492,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos espondilodisplásico,TRUE,TRUE,Active +GARD:13493,Legacy,GARD,,,,,,,,,,,,Síndrome de hipoventilación congénita central,TRUE,TRUE,Active +GARD:13494,Legacy,GARD,,,,,,,,,,,,Enfermedad de Chagas,FALSE,TRUE,Active +GARD:13495,Legacy,GARD,,,,,,,,,,,,Shashi-Pena syndrome,TRUE,FALSE,Active +GARD:13496,Legacy,GARD,,,,,,,,,,,,candida albicans,FALSE,FALSE,Draft +GARD:13497,Legacy,GARD,,,,,,,,,,,,Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms,TRUE,FALSE,Active +GARD:13498,Legacy,GARD,,,,,,,,,,,,Giant omphalocele,FALSE,FALSE,Draft +GARD:13499,Legacy,GARD,,,,,,,,,,,,Síndrome de Shashi-Pena,TRUE,TRUE,Active +GARD:13500,Legacy,GARD,,,,,,,,,,,,Mielitis transversa,TRUE,TRUE,Active +GARD:13501,Legacy,GARD,,,,,,,,,,,,Prion diseases,FALSE,FALSE,Draft +GARD:13502,Legacy,GARD,,,,,,,,,,,,Pseudoobstrucción intestinal crónica,TRUE,TRUE,Active +GARD:13503,Legacy,GARD,,,,,,,,,,,,Abdominal phrenic dyssynergia,FALSE,FALSE,Draft +GARD:13504,Legacy,GARD,,,,,,,,,,,,Pelvis floor dysfunction,FALSE,FALSE,Draft +GARD:13505,Legacy,GARD,,,,,,,,,,,,Síndrome del dolor lumbar-hematuria,TRUE,TRUE,Active +GARD:13506,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 1,TRUE,TRUE,Active +GARD:13507,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 2,TRUE,TRUE,Active +GARD:13508,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 3,TRUE,TRUE,Active +GARD:13509,Legacy,GARD,,,,,,,,,,,,Ulcerative colitis,FALSE,FALSE,Draft +GARD:1351,Legacy,GARD,,,,,,,,,,,,Chronic berylliosis,TRUE,FALSE,Retired +GARD:13510,Legacy,GARD,,,,,,,,,,,,Enfermedad de Niemann-Pick,TRUE,TRUE,Active +GARD:13511,Legacy,GARD,,,,,,,,,,,,"Sucrase-isomaltase deficiency, acquired",FALSE,FALSE,Draft +GARD:13512,Legacy,GARD,,,,,,,,,,,,brachialradial pruritis,FALSE,FALSE,Draft +GARD:13513,Legacy,GARD,,,,,,,,,,,,Protoporfiria eritropoyética,TRUE,TRUE,Active +GARD:13514,Legacy,GARD,,,,,,,,,,,,PHIP-Related disorder,TRUE,FALSE,Active +GARD:13515,Legacy,GARD,,,,,,,,,,,,Síndrome de la deleción 18p,TRUE,TRUE,Active +GARD:13516,Legacy,GARD,,,,,,,,,,,,Gastroparesia,TRUE,TRUE,Active +GARD:13517,Legacy,GARD,,,,,,,,,,,,Shoenfeld syndrome,FALSE,FALSE,Draft +GARD:13518,Legacy,GARD,,,,,,,,,,,,radiation exposure,FALSE,FALSE,Draft +GARD:13519,Active,Orphanet,ORPHA:209341,Subtype of disorder,[Etiological subtype],DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"[DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED1]",,[158600],,,,,"Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1",TRUE,FALSE,Active +GARD:1352,Legacy,GARD,,,,,,,,,,,,Chronic demyelinizing neuropathy with IgM monoclonal,TRUE,FALSE,Active +GARD:13520,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 1,TRUE,TRUE,Active +GARD:13521,Legacy,GARD,,,,,,,,,,,,malassezia folliculitis,FALSE,FALSE,Draft +GARD:13522,Legacy,GARD,,,,,,,,,,,,Bochdalek hernia,FALSE,FALSE,Draft +GARD:13523,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 1A,TRUE,TRUE,Active +GARD:13524,Active,Orphanet+OMIM,OMIM:617854,Subtype of disorder,"[Etiological subtype, Disease subtype]","Intellectual developmental disorder, autosomal dominant 56","[Mental retardation, autosomal dominant 56]",,[617854],"[442835, 178469]","[Non-specific early-onset epileptic encephalopathy, Autosomal dominant non-syndromic intellectual disability]","[15028, 12107]",,Autosomal dominant intellectual disability 56,TRUE,FALSE,Draft +GARD:13525,Legacy,GARD,,,,,,,,,,,,Vasculitis asociada a anticuerpos anticitoplasma de neutrófilo,TRUE,TRUE,Active +GARD:13526,Legacy,GARD,,,,,,,,,,,,Granulomatosis eosinofílica con poliangeítis,TRUE,TRUE,Retired +GARD:13527,Active,Orphanet,ORPHA:464306,Disorder,[Malformation syndrome],DYRK1A-related intellectual disability syndrome,[DYRK1A syndrome],"A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.",[614104],,,,,DYRK1A-Related Intellectual Disability Syndrome,TRUE,FALSE,Active +GARD:13528,Legacy,GARD,,,,,,,,,,,,IRF2BPL gene variant,FALSE,FALSE,Draft +GARD:13529,Legacy,GARD,,,,,,,,,,,,Insomnia,FALSE,FALSE,Draft +GARD:13530,Legacy,GARD,,,,,,,,,,,,Encefalomiopatía neurogastrointestinal mitocondrial,TRUE,TRUE,Active +GARD:13531,Legacy,GARD,,,,,,,,,,,,Autosomal recessive spinocerebellar ataxia 21,FALSE,FALSE,Draft +GARD:13532,Legacy,GARD,,,,,,,,,,,,Esclerodermia sistémica,TRUE,TRUE,Active +GARD:13533,Legacy,GARD,,,,,,,,,,,,Mosaic supernumerary chromosome,FALSE,FALSE,Draft +GARD:13534,Legacy,GARD,,,,,,,,,,,,"X-linked intellectual disability syndrome, Turner type",FALSE,FALSE,Retired +GARD:13535,Legacy,GARD,,,,,,,,,,,,REEP1 related syndrome,FALSE,FALSE,Draft +GARD:13536,Legacy,GARD,,,,,,,,,,,,pneumosinus dilatans,FALSE,FALSE,Draft +GARD:13537,Legacy,GARD,,,,,,,,,,,,Síndrome de Cornelia de Lange,TRUE,TRUE,Active +GARD:13538,Legacy,GARD,,,,,,,,,,,,Encapsulated peritoneal sclerosis,FALSE,FALSE,Draft +GARD:13539,Active,Orphanet+OMIM,OMIM:616579,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features","[Intellectual developmental disorder, autosomal dominant 40, formerly, mental retardation, autosomal dominant 40, formerly]","Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by {2:Garrity et al., 2021}).",[616579],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,Autosomal dominant intellectual disability 40,TRUE,FALSE,Active +GARD:13540,Legacy,GARD,,,,,,,,,,,,Copper deficiency myeloneuropathy,FALSE,FALSE,Draft +GARD:13541,Legacy,GARD,,,,,,,,,,,,Gait ataxia with late onset polyneuropathy syndrome,TRUE,FALSE,Active +GARD:13542,Legacy,GARD,,,,,,,,,,,,PHARC,FALSE,FALSE,Draft +GARD:13543,Legacy,GARD,,,,,,,,,,,,Enfermedad de Crohn,FALSE,TRUE,Active +GARD:13544,Legacy,GARD,,,,,,,,,,,,Duplication of the vena cava,FALSE,FALSE,Draft +GARD:13545,Legacy,GARD,,,,,,,,,,,,Síndrome de Phelan-McDermid,TRUE,TRUE,Active +GARD:13546,Legacy,GARD,,,,,,,,,,,,Adenoid basal carcinoma of the cervix,FALSE,FALSE,Draft +GARD:13547,Legacy,GARD,,,,,,,,,,,,Calcinosis cutis,FALSE,FALSE,Draft +GARD:13548,Legacy,GARD,,,,,,,,,,,,Metabolic disorders,FALSE,FALSE,Draft +GARD:13549,Legacy,GARD,,,,,,,,,,,,Síndrome de microduplicación 15q13.3,TRUE,TRUE,Active +GARD:1355,Legacy,GARD,,,,,,,,,,,,Chronic polyradiculoneuritis,TRUE,FALSE,Active +GARD:13550,Legacy,GARD,,,,,,,,,,,,Myopericytoma,FALSE,FALSE,Draft +GARD:13551,Legacy,GARD,,,,,,,,,,,,Esclerosis lateral amiotrófica juvenil,TRUE,TRUE,Active +GARD:13552,Legacy,GARD,,,,,,,,,,,,Síndrome de la haploinsuficiencia MED13L,TRUE,TRUE,Active +GARD:13553,Legacy,GARD,,,,,,,,,,,,Síndrome de duplicación de MECP2,TRUE,TRUE,Active +GARD:13554,Legacy,GARD,,,,,,,,,,,,Chronic mountain sickness,FALSE,FALSE,Draft +GARD:13555,Legacy,GARD,,,,,,,,,,,,Cytomegalovirus,FALSE,FALSE,Draft +GARD:13556,Legacy,GARD,,,,,,,,,,,,Lipomas,FALSE,FALSE,Draft +GARD:13557,Legacy,GARD,,,,,,,,,,,,Enfermedad de almacenamiento de glucógeno tipo 2,TRUE,TRUE,Active +GARD:13558,Legacy,GARD,,,,,,,,,,,,ectopia cordis,FALSE,FALSE,Draft +GARD:13559,Legacy,GARD,,,,,,,,,,,,Ictiosis epidermolítica,TRUE,TRUE,Active +GARD:1356,Active,Orphanet,ORPHA:1451,Disorder,[Disease],CINCA syndrome,"[Chronic infantile neurological cutaneous and articular syndrome, IOMID syndrome, Infantile-onset multisystem inflammatory disease, NOMID syndrome, Neonatal-onset multisystem inflammatory disease, Prieur-Griscelli syndrome]","A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).",[607115],,,,,Neonatal Onset Multisystem Inflammatory disease,TRUE,FALSE,Active +GARD:13560,Legacy,GARD,,,,,,,,,,,,Fenilcetonuria,TRUE,TRUE,Active +GARD:13561,Legacy,GARD,,,,,,,,,,,,central retinal vein occlusion,FALSE,FALSE,Draft +GARD:13562,Legacy,GARD,,,,,,,,,,,,CADASIL,TRUE,TRUE,Active +GARD:13563,Legacy,GARD,,,,,,,,,,,,Síndrome del corazón izquierdo hipoplásico,TRUE,TRUE,Active +GARD:13564,Legacy,GARD,,,,,,,,,,,,TECPR2 gene-related disorder,FALSE,FALSE,Retired +GARD:13565,Active,Orphanet,ORPHA:445018,Disorder,[Disease],Combined immunodeficiency due to LRBA deficiency,[CID due to LRBA deficiency],"A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.",[614700],,,,,LRBA deficiency,TRUE,FALSE,Active +GARD:13566,Legacy,GARD,,,,,,,,,,,,Síndrome de Dubowitz,TRUE,TRUE,Active +GARD:13567,Legacy,GARD,,,,,,,,,,,,Chromosome 9q33q34 microdeletion,FALSE,FALSE,Draft +GARD:13568,Active,Orphanet,ORPHA:320385,Disorder,[Disease],Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,"[Autosomal recessive spastic paraplegia type 49, HSAN due to TECPR2 mutation, SPG49]","Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.",[615031],,,,,Autosomal recessive spastic paraplegia type 49,TRUE,FALSE,Active +GARD:13569,Legacy,GARD,,,,,,,,,,,,Irlen syndrome,FALSE,FALSE,Draft +GARD:1357,Legacy,GARD,,,,,,,,,,,,"Mental retardation-hypotonic facies syndrome X-linked, 1",TRUE,FALSE,Retired +GARD:13570,Legacy,GARD,,,,,,,,,,,,Deficiencia de LRBA,TRUE,TRUE,Active +GARD:13571,Active,Orphanet,ORPHA:293955,Disorder,[Disease],Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,,"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.",[614458],,,,,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,TRUE,FALSE,Active +GARD:13572,Legacy,GARD,,,,,,,,,,,,Síndrome de Pitt-Hopkins,TRUE,TRUE,Active +GARD:13573,Legacy,GARD,,,,,,,,,,,,Síndrome de Xia-Gibbs,TRUE,TRUE,Active +GARD:13574,Legacy,GARD,,,,,,,,,,,,Infecciones por el Complejo Mycobacterium avium,TRUE,TRUE,Active +GARD:13575,Legacy,GARD,,,,,,,,,,,,Oncocercosis,TRUE,TRUE,Active +GARD:13576,Legacy,GARD,,,,,,,,,,,,Miopatía de Miyoshi,TRUE,TRUE,Active +GARD:13577,Legacy,GARD,,,,,,,,,,,,Disferlinopatias,TRUE,TRUE,Active +GARD:13578,Legacy,GARD,,,,,,,,,,,,Myelodysplastic Syndrome With Excess Blasts,TRUE,FALSE,Active +GARD:13579,Legacy,GARD,,,,,,,,,,,,Osteoid Osteoma,FALSE,FALSE,Draft +GARD:1358,Active,Orphanet,ORPHA:3068,Disorder,[Disease],Intellectual disability-myopathy-short stature-endocrine defect syndrome,[Chudley-Rozdilsky syndrome],"Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.",[253320],,,,,Chudley Rozdilsky syndrome,TRUE,FALSE,Active +GARD:13580,Legacy,GARD,,,,,,,,,,,,Síndrome mielodisplásico con exceso de blastos,TRUE,TRUE,Active +GARD:13581,Legacy,GARD,,,,,,,,,,,,Síndromes mielodisplásicos,TRUE,TRUE,Active +GARD:13582,Legacy,GARD,,,,,,,,,,,,Sensory ganglionopathy,FALSE,FALSE,Draft +GARD:13583,Legacy,GARD,,,,,,,,,,,,Cicatricial alopecia,FALSE,FALSE,Draft +GARD:13584,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 49,TRUE,FALSE,Active +GARD:13585,Legacy,GARD,,,,,,,,,,,,Discapacidad intelectual autosómica dominante 49,TRUE,TRUE,Draft +GARD:13586,Legacy,GARD,,,,,,,,,,,,Espectro de la displasia septo-óptica,TRUE,TRUE,Active +GARD:13587,Active,Orphanet,ORPHA:157949,Disorder,[Disease],Combined immunodeficiency with granulomatosis,"[CID due to RAG 1/2 deficiency, Combined immunodeficiency due to RAG 1/2 deficiency]","A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.",[233650],,,,,Combined immunodeficiency with skin granulomas,TRUE,FALSE,Active +GARD:13588,Active,Orphanet,ORPHA:99748,Disorder,[Disease],Pontiac fever,,"Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.",,,,,,Pontiac fever,TRUE,FALSE,Draft +GARD:13589,Legacy,GARD,,,,,,,,,,,,Enfermedad del legionario,TRUE,TRUE,Active +GARD:1359,Active,Orphanet,ORPHA:1160,Disorder,[Disease],Chylous ascites,,"Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.",[208300],,,,,Chylous ascites,TRUE,FALSE,Active +GARD:13591,Active,Orphanet,ORPHA:443236,Disorder,[Disease],Postural orthostatic tachycardia syndrome due to NET deficiency,"[Familial orthostatic tachycardia due to norepinephrine transporter deficiency, Orthostatic intolerance due to NET deficiency, POTS due to NET deficiency]","A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.",[604715],,,,,Orthostatic intolerance due to NET deficiency,TRUE,FALSE,Active +GARD:13592,Active,Orphanet,ORPHA:42738,Group of disorders,[Clinical group],Severe congenital neutropenia,,Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.,,,,,,Severe congenital neutropenia,TRUE,FALSE,Active +GARD:13593,Active,Orphanet,ORPHA:251975,Disorder,[Disease],Rosette-forming glioneuronal tumor,[RGNT],"Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.",,,,,,Rosette-Forming Glioneuronal Tumor,TRUE,FALSE,Active +GARD:13594,Active,Orphanet,ORPHA:352649,Disorder,[Disease],Brain dopamine-serotonin vesicular transport disease,,"A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.",[618049],,,,,Brain dopamine-serotonin vesicular transport disease,TRUE,FALSE,Active +GARD:13595,Legacy,GARD,,,,,,,,,,,,miliary osteoma cutis,FALSE,FALSE,Draft +GARD:13596,Legacy,GARD,,,,,,,,,,,,Distrofia miotónica,TRUE,TRUE,Active +GARD:13597,Legacy,GARD,,,,,,,,,,,,Granuloma anular,FALSE,TRUE,Active +GARD:13598,Legacy,GARD,,,,,,,,,,,,Síndrome de Silver-Russell,TRUE,TRUE,Active +GARD:13599,Legacy,GARD,,,,,,,,,,,,MOG Antibody-Associated Disease,FALSE,FALSE,Draft +GARD:136,Legacy,GARD,,,,,,,,,,,,Dextrocardia with unusual facies and microphthalmia,TRUE,FALSE,Active +GARD:1360,Active,Orphanet+OMIM,OMIM:215518,Subtype of disorder,[Disease subtype],Ciliary discoordination due to random ciliary orientation,[Rutland ciliary disorientation syndrome],"In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, {4:Rutland and de Iongh (1990)} described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation ({1:de Iongh and Rutland, 1989}), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. {4:Rutland and de Iongh (1990)} considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome ({3:Herzon and Murphy, 1980}; {2:Greenstone et al., 1983}) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs.",[215518],[244],[Primary ciliary dyskinesia],[4484],,"Ciliary discoordination, due to random ciliary orientation",TRUE,FALSE,Active +GARD:13600,Legacy,GARD,,,,,,,,,,,,endometriosis,FALSE,FALSE,Draft +GARD:13601,Legacy,GARD,,,,,,,,,,,,Síndrome de Evans,TRUE,TRUE,Active +GARD:13602,Legacy,GARD,,,,,,,,,,,,Food Protein-Induced Enterocolitis Syndrome,FALSE,FALSE,Draft +GARD:13603,Legacy,GARD,,,,,,,,,,,,Spinal cord infarction,FALSE,FALSE,Draft +GARD:13604,Legacy,GARD,,,,,,,,,,,,Sleep paralysis,FALSE,FALSE,Draft +GARD:13605,Legacy,GARD,,,,,,,,,,,,Oligodactyly,FALSE,FALSE,Draft +GARD:13606,Active,Orphanet,ORPHA:48377,Disorder,[Disease],Subcorneal pustular dermatosis,"[Pustulosis subcornealis, Sneddon-Wilkinson disease, Subcorneal pustular dermatitis]","Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.",,,,,,Subcorneal pustular dermatosis,TRUE,FALSE,Active +GARD:13607,Legacy,GARD,,,,,,,,,,,,Lipofuscinosis neuronal ceroidea,TRUE,TRUE,Active +GARD:13608,Legacy,GARD,,,,,,,,,,,,Neurodevelopmental disorder with severe motor impairment and absent language,TRUE,FALSE,Active +GARD:13609,Legacy,GARD,,,,,,,,,,,,Amplified musculoskeletal pain syndrome,FALSE,FALSE,Draft +GARD:1361,Active,Orphanet+OMIM,OMIM:215520,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with transposition of ciliary microtubules,,,[215520],[244],[Primary ciliary dyskinesia],[4484],,"Ciliary dyskinesia, due to transposition of ciliary microtubules",TRUE,FALSE,Active +GARD:13610,Legacy,GARD,,,,,,,,,,,,Enfermedad de von Hippel-Lindau,TRUE,TRUE,Active +GARD:13611,Legacy,GARD,,,,,,,,,,,,Miopatía miofibrilar,TRUE,TRUE,Active +GARD:13612,Legacy,GARD,,,,,,,,,,,,Pseudomonas aeruginosa Infections,FALSE,FALSE,Draft +GARD:13613,Active,Orphanet,ORPHA:90066,Disorder,[Particular clinical situation in a disease or syndrome],Pneumonia caused by Pseudomonas aeruginosa infection,,"A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.",,,,,,Pneumonia caused by Pseudomonas aeruginosa infection,TRUE,FALSE,Active +GARD:13614,Legacy,GARD,,,,,,,,,,,,Zinner syndrome,FALSE,FALSE,Draft +GARD:13615,Legacy,GARD,,,,,,,,,,,,Inmunodeficiencia común variable,FALSE,TRUE,Active +GARD:13616,Legacy,GARD,,,,,,,,,,,,Demencia frontotemporal,TRUE,TRUE,Active +GARD:13617,Legacy,GARD,,,,,,,,,,,,Diaphragmatic flutter,TRUE,FALSE,Active +GARD:13618,Legacy,GARD,,,,,,,,,,,,Paquidermoperiostosis,TRUE,TRUE,Active +GARD:13619,Legacy,GARD,,,,,,,,,,,,plantar fibroma,FALSE,FALSE,Draft +GARD:1362,Legacy,GARD,,,,,,,,,,,,Ciliary dyskinesia-bronchiectasis,TRUE,FALSE,Active +GARD:13620,Legacy,GARD,,,,,,,,,,,,Digital papillary adenocarcinoma,FALSE,FALSE,Draft +GARD:13621,Active,Orphanet,ORPHA:448010,Disorder,[Disease],CAD-CDG,"[CDG syndrome type Iz, CDG-Iz, CDG1Z, Carbohydrate deficient glycoprotein syndrome type Iz, Congenital disorder of glycosylation type 1z]","CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.",[616457],,,,,CAD-CDG,TRUE,FALSE,Active +GARD:13622,Legacy,GARD,,,,,,,,,,,,Discapacidad intelectual ligada al X tipo Stocco Dos Santos,TRUE,TRUE,Active +GARD:13623,Legacy,GARD,,,,,,,,,,,,Nephrotic syndrome,FALSE,FALSE,Draft +GARD:13624,Legacy,GARD,,,,,,,,,,,,Anaplastic pleomorphic xanthoastrocytoma,TRUE,FALSE,Active +GARD:13625,Legacy,GARD,,,,,,,,,,,,Derrame cerebral,FALSE,TRUE,Internal +GARD:13626,Legacy,GARD,,,,,,,,,,,,Carbohydrate malabsorption,FALSE,FALSE,Draft +GARD:13627,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa con neuropatía axonal tipo 2,TRUE,TRUE,Active +GARD:13628,Legacy,GARD,,,,,,,,,,,,Polimicrogiria bilateral perisilviana,TRUE,TRUE,Active +GARD:13629,Active,Orphanet,ORPHA:139402,Disorder,[Disease],Drug reaction with eosinophilia and systemic symptoms,"[DRESS syndrome, Drug rash with eosinophilia and systemic symptoms]","A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. Onset usually occurs 2-6 weeks after administration of the causal medication and is most frequently associated with anticonvulsants and sulfonamides but other medications (allopurinol, cyclosporine, azathioprine, gold salts and antiviral agents) have also been implicated.",,,,,,Drug reaction with eosinophilia and systemic symptoms,TRUE,FALSE,Active +GARD:13630,Legacy,GARD,,,,,,,,,,,,Drug rash with eosinophilia and systemic symptoms,TRUE,FALSE,Retired +GARD:13631,Legacy,GARD,,,,,,,,,,,,Erupción con eosinofilia y síntomas sistémicos causada por medicamentos,TRUE,TRUE,Active +GARD:13632,Legacy,GARD,,,,,,,,,,,,focal epilepsy,FALSE,FALSE,Draft +GARD:13633,Legacy,GARD,,,,,,,,,,,,Pitiriasis liquenoide crónica,TRUE,TRUE,Active +GARD:13634,Legacy,GARD,,,,,,,,,,,,Pitiriasis liquenoide,TRUE,TRUE,Active +GARD:13635,Legacy,GARD,,,,,,,,,,,,Linfangioleiomiomatosis,TRUE,TRUE,Active +GARD:13636,Active,Orphanet,ORPHA:457485,Disorder,[Malformation syndrome],Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,"[MINDS syndrome, Smith-Kingsmore syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.",[616638],,,,,Smith-Kingsmore syndrome,TRUE,FALSE,Active +GARD:13637,Legacy,GARD,,,,,,,,,,,,Mielitis flácida aguda,TRUE,TRUE,Active +GARD:13638,Active,Orphanet,ORPHA:480880,Disorder,[Malformation syndrome],X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,[X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.",[300968],,,,,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,TRUE,FALSE,Active +GARD:13639,Active,Orphanet,ORPHA:79239,Disorder,[Disease],Classic galactosemia,"[GALT deficiency, Galactose-1-phosphate uridyltransferase deficiency, Galactosemia type 1]","A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.",[230400],,,,,Classic galactosemia,TRUE,FALSE,Active +GARD:13640,Legacy,GARD,,,,,,,,,,,,Remitting seronegative symmetrical synovitis with pitting edema,TRUE,FALSE,Active +GARD:13641,Active,Orphanet,ORPHA:221061,Disorder,[Malformation syndrome],Familial cerebral cavernous malformation,"[Familial brain cavernous angioma, Familial cerebral cavernoma, Hereditary brain cavernous angioma, Hereditary cerebral cavernoma, Hereditary cerebral cavernous malformation]","A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","[603284, 603285, 116860]",,,,,Familial cerebral cavernous malformation,TRUE,FALSE,Active +GARD:13642,Legacy,GARD,,,,,,,,,,,,Pliegues circulares de la piel tipo Kunze,TRUE,TRUE,Active +GARD:13643,Active,Orphanet,ORPHA:35698,Group of disorders,[Category],Mitochondrial DNA depletion syndrome,[mtDNA depletion syndrome],"A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.",,,,,,Mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13644,Active,Orphanet,ORPHA:279934,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",,"A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.",[251880],,,,,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",TRUE,FALSE,Active +GARD:13645,Legacy,GARD,,,,,,,,,,,,Auto-brewery syndrome,FALSE,FALSE,Draft +GARD:13646,Legacy,GARD,,,,,,,,,,,,carbonic anhydrase 1 variant,FALSE,FALSE,Draft +GARD:13647,Legacy,GARD,,,,,,,,,,,,Facial infiltrating lipomatosis,TRUE,FALSE,Active +GARD:13648,Legacy,GARD,,,,,,,,,,,,Lipomatosis infiltrante facial,TRUE,TRUE,Active +GARD:13649,Legacy,GARD,,,,,,,,,,,,Espectro de sindromes de sobrecrecimiento relacionado con PIK3CA,TRUE,TRUE,Active +GARD:1365,Legacy,GARD,,,,,,,,,,,,Circumscribed cutaneous aplasia of the vertex,TRUE,FALSE,Active +GARD:13650,Legacy,GARD,,,,,,,,,,,,Alcoholism,FALSE,FALSE,Draft +GARD:13651,Legacy,GARD,,,,,,,,,,,,Paraganglioma,TRUE,FALSE,Draft +GARD:13652,Legacy,GARD,,,,,,,,,,,,Erythema annulare centrifugum,FALSE,FALSE,Draft +GARD:13653,Legacy,GARD,,,,,,,,,,,,Síndrome de Meige,TRUE,TRUE,Active +GARD:13654,Legacy,GARD,,,,,,,,,,,,Generalized lipodystrophy-associated progeroid syndrome,TRUE,FALSE,Active +GARD:13655,Active,Orphanet,ORPHA:434179,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 14,"[Microcephaly-cerebral malformation-orofaciodigital syndrome, OFD14, Oral-facial-digital syndrome type 14]","Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.",[615948],,,,,Orofaciodigital syndrome 14,TRUE,FALSE,Active +GARD:13656,Legacy,GARD,,,,,,,,,,,,Enfermedad de Tay-Sachs,TRUE,TRUE,Active +GARD:13657,Legacy,GARD,,,,,,,,,,,,Anomalía de Sprengel,TRUE,TRUE,Active +GARD:13658,Active,Orphanet,ORPHA:500180,Disorder,[Disease],Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,,"A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.",[617672],,,,,Childhood-onset neurodegeneration with brain atrophy,TRUE,FALSE,Active +GARD:13659,Legacy,GARD,,,,,,,,,,,,Hepatitis D,TRUE,FALSE,Active +GARD:1366,Legacy,GARD,,,,,,,,,,,,Circumscribed disseminated keratosis Jadassohn Lew type,TRUE,FALSE,Active +GARD:13660,Legacy,GARD,,,,,,,,,,,,Hyperlipidemia,FALSE,FALSE,Draft +GARD:13661,Active,Orphanet,ORPHA:324604,Subtype of disorder,[Clinical subtype],Classic multiminicore myopathy,"[Classic MmD, Classic multiminicore disease]",,[602771],,,,,SEPN1-related myopathy,TRUE,FALSE,Active +GARD:13662,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 47,FALSE,FALSE,Draft +GARD:13663,Active,Orphanet,ORPHA:166282,Disorder,[Disease],Familial sick sinus syndrome,,"A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.","[614090, 163800, 608567, 182190]",,,,,Familial sick sinus syndrome,TRUE,FALSE,Active +GARD:13664,Legacy,GARD,,,,,,,,,,,,Síndrome familiar del seno enfermo,TRUE,TRUE,Active +GARD:13665,Legacy,GARD,,,,,,,,,,,,Choroidal melanoma,FALSE,FALSE,Draft +GARD:13666,Legacy,GARD,,,,,,,,,,,,IRF2BPL-related disorders,TRUE,FALSE,Active +GARD:13667,Legacy,GARD,,,,,,,,,,,,Dependent personality disorder,FALSE,FALSE,Draft +GARD:13668,Legacy,GARD,,,,,,,,,,,,"Cerebellar ataxia, neuropathy, and vestibular arefelxia syndrome",FALSE,FALSE,Draft +GARD:13669,Legacy,GARD,,,,,,,,,,,,Leucodistrofia relacionada con POLR3,TRUE,TRUE,Active +GARD:13670,Legacy,GARD,,,,,,,,,,,,Hemoglobin D disease,FALSE,FALSE,Draft +GARD:13671,Legacy,GARD,,,,,,,,,,,,DYT-KMT2B,TRUE,FALSE,Active +GARD:13672,Legacy,GARD,,,,,,,,,,,,Distonia relacionada al gen KMT2B,TRUE,TRUE,Draft +GARD:13673,Legacy,GARD,,,,,,,,,,,,Enfermedad de Kimura,TRUE,TRUE,Active +GARD:13674,Legacy,GARD,,,,,,,,,,,,Displasia cemento-ósea florida,TRUE,TRUE,Active +GARD:13675,Legacy,GARD,,,,,,,,,,,,Tumor de Brenner del ovario,FALSE,TRUE,Active +GARD:13676,Active,Orphanet+OMIM,OMIM:615476,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 18,"[Epileptic encephalopathy, early infantile, 18]","Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by {1:Basel-Vanagaite et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615476],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 18,TRUE,FALSE,Active +GARD:13677,Legacy,GARD,,,,,,,,,,,,Fibrosis pulmonar idiopática,TRUE,TRUE,Active +GARD:13678,Legacy,GARD,,,,,,,,,,,,Síndrome de Hallermann-Streiff,TRUE,TRUE,Active +GARD:13679,Legacy,GARD,,,,,,,,,,,,Síndrome de Dyggve-Melchior-Clausen,TRUE,TRUE,Active +GARD:13680,Legacy,GARD,,,,,,,,,,,,Stankiewicz-Isidor syndrome,TRUE,FALSE,Active +GARD:13681,Legacy,GARD,,,,,,,,,,,,Early infantile epileptic encephalopathy-64,TRUE,FALSE,Active +GARD:13682,Legacy,GARD,,,,,,,,,,,,Hemangioma congénito no involutivo,TRUE,TRUE,Active +GARD:13683,Legacy,GARD,,,,,,,,,,,,TBC1D24-Related Disorders,TRUE,FALSE,Active +GARD:13684,Legacy,GARD,,,,,,,,,,,,8p inverted duplication/deletion syndrome,TRUE,FALSE,Active +GARD:13685,Legacy,GARD,,,,,,,,,,,,Enfermedad de Addison,TRUE,TRUE,Active +GARD:13686,Active,Orphanet+OMIM,OMIM:614254,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant","[Mental retardation, autosomal dominant 8, formerly]","NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by {4:Lemke et al., 2016}).",[614254],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,GRIN1-associated disorders,TRUE,FALSE,Active +GARD:13687,Legacy,GARD,,,,,,,,,,,,Bordetella bronchiseptica,FALSE,FALSE,Draft +GARD:13688,Legacy,GARD,,,,,,,,,,,,Queratosis folicular espinulosa decalvante,TRUE,TRUE,Active +GARD:13689,Legacy,GARD,,,,,,,,,,,,Follicular porokeratosis,FALSE,FALSE,Draft +GARD:1369,Active,Orphanet,ORPHA:3329,Disorder,[Malformation syndrome],Tibial aplasia-ectrodactyly syndrome,"[Aplasia of tibia with split-hand/split-foot deformity, SHFLD syndrome, SHFM associated with aplasia of long bones, Split hand/foot malformation with long bone deficiency, Split-hand/foot malformation associated with aplasia of long bones, TH-SHFM, Tibial hemimelia with split hand/foot malformation, Tibial hemimelia-ectrodactyly syndrome]",Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.,"[612576, 119100, 610685]",,,,,Cleft hand absent tibia,TRUE,FALSE,Active +GARD:13690,Legacy,GARD,,,,,,,,,,,,Macular dystrophy,FALSE,FALSE,Draft +GARD:13691,Legacy,GARD,,,,,,,,,,,,Síndrome de Lennox-Gastaut,TRUE,TRUE,Active +GARD:13692,Legacy,GARD,,,,,,,,,,,,Epstein-Barr virus infection,FALSE,FALSE,Draft +GARD:13693,Legacy,GARD,,,,,,,,,,,,Heiner syndrome,FALSE,FALSE,Draft +GARD:13694,Legacy,GARD,,,,,,,,,,,,Distal hereditary motor neuropathy type VIIB,FALSE,FALSE,Draft +GARD:13695,Legacy,GARD,,,,,,,,,,,,alpha-gal syndrome,FALSE,FALSE,Draft +GARD:13696,Legacy,GARD,,,,,,,,,,,,Lysosomal Storage Disorders,FALSE,FALSE,Draft +GARD:13697,Legacy,GARD,,,,,,,,,,,,Calcinosis tumoral familiar hiperfosfatémica,TRUE,TRUE,Active +GARD:13698,Legacy,GARD,,,,,,,,,,,,Tumores desmoides,TRUE,TRUE,Active +GARD:13699,Legacy,GARD,,,,,,,,,,,,Enteropatía congénita en penacho,TRUE,TRUE,Active +GARD:137,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia,TRUE,FALSE,Active +GARD:13700,Legacy,GARD,,,,,,,,,,,,Hidranencefalia,TRUE,TRUE,Active +GARD:13701,Active,Orphanet,ORPHA:178540,Disorder,[Disease],Primary cutaneous follicle center lymphoma,[PCFCL],"A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.",,,,,,Primary cutaneous follicle center lymphoma,TRUE,FALSE,Active +GARD:13702,Legacy,GARD,,,,,,,,,,,,Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease,TRUE,FALSE,Active +GARD:13703,Legacy,GARD,,,,,,,,,,,,Síndrome de microftalmia de Lenz,TRUE,TRUE,Active +GARD:13704,Legacy,GARD,,,,,,,,,,,,Síndrome de Rabson-Mendenhall,TRUE,TRUE,Active +GARD:13705,Legacy,GARD,,,,,,,,,,,,Lisencefalia,TRUE,TRUE,Active +GARD:13706,Legacy,GARD,,,,,,,,,,,,Mycoplasmal genitalium,FALSE,FALSE,Draft +GARD:13707,Legacy,GARD,,,,,,,,,,,,xeroderma pigmentoso,TRUE,TRUE,Active +GARD:13708,Active,Orphanet,ORPHA:280558,Disorder,[Malformation syndrome],Warsaw breakage syndrome,[WABS],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.",[613398],,,,,Warsaw breakage syndrome,TRUE,FALSE,Active +GARD:13709,Legacy,GARD,,,,,,,,,,,,Ganglioma,FALSE,FALSE,Draft +GARD:1371,Legacy,GARD,,,,,,,,,,,,Cleft lip and palate malrotation cardiopathy,TRUE,FALSE,Active +GARD:13710,Legacy,GARD,,,,,,,,,,,,Síndrome de atrofia óptica plus autosómica dominante,TRUE,TRUE,Active +GARD:13711,Legacy,GARD,,,,,,,,,,,,Síndrome IMAGe,TRUE,TRUE,Active +GARD:13712,Active,Orphanet,ORPHA:231154,Disorder,[Disease],Combined immunodeficiency due to partial RAG1 deficiency,"[CID due to partial RAG1 deficiency, CID with expansion of gamma delta T cells, Combined immunodeficiency with expansion of gamma delta T cells]",Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.,[609889],,,,,Combined immunodeficiency due to partial RAG1 deficiency,TRUE,FALSE,Active +GARD:13713,Legacy,GARD,,,,,,,,,,,,Paraplejía espástica hereditaria,TRUE,TRUE,Active +GARD:13714,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 29,FALSE,FALSE,Draft +GARD:13715,Legacy,GARD,,,,,,,,,,,,Isolated neck extensor myopathy,FALSE,FALSE,Draft +GARD:13716,Legacy,GARD,,,,,,,,,,,,Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual,TRUE,TRUE,Active +GARD:13717,Legacy,GARD,,,,,,,,,,,,Flatback syndrome,FALSE,FALSE,Draft +GARD:13718,Legacy,GARD,,,,,,,,,,,,Embriopatía por ácido retinoico,TRUE,TRUE,Active +GARD:13719,Legacy,GARD,,,,,,,,,,,,Disequilibrium,FALSE,FALSE,Draft +GARD:1372,Legacy,GARD,,,,,,,,,,,,Cleft lip and/or palate with mucous cysts of lower,TRUE,FALSE,Retired +GARD:13720,Legacy,GARD,,,,,,,,,,,,Monosomy 21,FALSE,FALSE,Draft +GARD:13721,Legacy,GARD,,,,,,,,,,,,Trisomy 10,FALSE,FALSE,Draft +GARD:13722,Legacy,GARD,,,,,,,,,,,,Chondrodermatitis Nodularis,FALSE,FALSE,Draft +GARD:13723,Legacy,GARD,,,,,,,,,,,,Síndrome WAGR,TRUE,TRUE,Active +GARD:13724,Legacy,GARD,,,,,,,,,,,,CAMSAP1 gene mutation,FALSE,FALSE,Draft +GARD:13725,Legacy,GARD,,,,,,,,,,,,encephalitis,FALSE,FALSE,Draft +GARD:13726,Legacy,GARD,,,,,,,,,,,,Lupus Panniculitis,FALSE,FALSE,Draft +GARD:13727,Legacy,GARD,,,,,,,,,,,,Solar urticaria,FALSE,FALSE,Draft +GARD:13728,Legacy,GARD,,,,,,,,,,,,Neuromielitis óptica,TRUE,TRUE,Active +GARD:13729,Legacy,GARD,,,,,,,,,,,,Coats plus syndrome,FALSE,FALSE,Draft +GARD:13730,Legacy,GARD,,,,,,,,,,,,Síndrome de Cohen,TRUE,TRUE,Active +GARD:13731,Active,Orphanet,ORPHA:86871,Disorder,[Disease],T-cell prolymphocytic leukemia,"[T-PLL, T-cell chronic lymphocytic leukemia]","A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.",,,,,,T-cell prolymphocytic leukemia,TRUE,FALSE,Active +GARD:13732,Legacy,GARD,,,,,,,,,,,,Shingles,FALSE,FALSE,Draft +GARD:13733,Legacy,GARD,,,,,,,,,,,,Transketolase deficiency,FALSE,FALSE,Draft +GARD:13734,Legacy,GARD,,,,,,,,,,,,BRPF1 deficiency,FALSE,FALSE,Draft +GARD:13735,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia 47,TRUE,FALSE,Active +GARD:13736,Legacy,GARD,,,,,,,,,,,,X-Linked protoporphyria,FALSE,FALSE,Draft +GARD:13737,Active,Orphanet+OMIM,OMIM:613744,Subtype of disorder,[Disease subtype],"Spastic paraplegia 51, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 4, formerly]","Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech (summary by {4:Moreno-De-Luca et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[613744],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,AP-4-Associated Hereditary Spastic Paraplegia,TRUE,FALSE,Active +GARD:13738,Legacy,GARD,,,,,,,,,,,,"Inmunodeficiencia ligada al X con defectos del magnesio, infección por virus de Epstein-Barr y neoplasia",TRUE,TRUE,Active +GARD:13739,Legacy,GARD,,,,,,,,,,,,Epilepsia con crisis miotónicas astáticas,TRUE,TRUE,Active +GARD:13740,Legacy,GARD,,,,,,,,,,,,Cerebral aneurysm,FALSE,FALSE,Draft +GARD:13741,Legacy,GARD,,,,,,,,,,,,Aneurysmal subarachnoid hemorrhage,FALSE,FALSE,Draft +GARD:13742,Legacy,GARD,,,,,,,,,,,,Telangiectasia macularis eruptiva perstans,FALSE,FALSE,Draft +GARD:13743,Active,Orphanet+OMIM,OMIM:259600,Subtype of disorder,[Disease subtype],"Multicentric osteolysis, nodulosis, and arthropathy","[nao syndrome, al-aqeel sewairi syndrome, osteolysis, hereditary multicentric, nodulosis-arthropathy-osteolysis syndrome, Torg syndrome, torg-winchester syndrome, formerly]","{15:Zankl et al. (2007)} defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome ({277950}), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.",[259600],[371428],[Multicentric osteolysis-nodulosis-arthropathy spectrum],[17610],,"Multicentric osteolysis, nodulosis and arthropathy",TRUE,FALSE,Active +GARD:13744,Legacy,GARD,,,,,,,,,,,,Angiomyxoma,FALSE,FALSE,Draft +GARD:13745,Legacy,GARD,,,,,,,,,,,,Leucodistrofia autosómica dominante con enfermedad autonómica,TRUE,TRUE,Active +GARD:13746,Legacy,GARD,,,,,,,,,,,,Distrofia muscular congénita de Fukuyama,TRUE,TRUE,Active +GARD:13747,Legacy,GARD,,,,,,,,,,,,Congenital high airway obstruction syndrome,FALSE,FALSE,Draft +GARD:13748,Legacy,GARD,,,,,,,,,,,,Hiperplasia regenerativa nodular,TRUE,TRUE,Active +GARD:13749,Legacy,GARD,,,,,,,,,,,,Vulval intraepithelial neoplasia,FALSE,FALSE,Draft +GARD:1375,Legacy,GARD,,,,,,,,,,,,Cleft lip palate dysmorphism Kumar type,TRUE,FALSE,Active +GARD:13750,Legacy,GARD,,,,,,,,,,,,Síndrome de Kleefstra,TRUE,TRUE,Active +GARD:13751,Legacy,GARD,,,,,,,,,,,,Shunt extra-hepático portosistémico congénito,TRUE,TRUE,Active +GARD:13752,Legacy,GARD,,,,,,,,,,,,Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa,TRUE,TRUE,Active +GARD:13753,Legacy,GARD,,,,,,,,,,,,NALCN-related disorders,FALSE,FALSE,Draft +GARD:13754,Legacy,GARD,,,,,,,,,,,,Chronic relapsing inflammatory optic neuropathy,FALSE,FALSE,Draft +GARD:13755,Legacy,GARD,,,,,,,,,,,,Proteinosis alveolar pulmonar congénita,TRUE,TRUE,Active +GARD:13756,Legacy,GARD,,,,,,,,,,,,Photorhabdus asymbiotica,FALSE,FALSE,Draft +GARD:13757,Legacy,GARD,,,,,,,,,,,,USP7-Related Diseases,FALSE,FALSE,Draft +GARD:13758,Legacy,GARD,,,,,,,,,,,,Mabry syndrome,FALSE,FALSE,Draft +GARD:13759,Legacy,GARD,,,,,,,,,,,,Colovesical fistula,FALSE,FALSE,Draft +GARD:13760,Legacy,GARD,,,,,,,,,,,,Yao syndrome,FALSE,FALSE,Draft +GARD:13761,Legacy,GARD,,,,,,,,,,,,Small intestine lymphoma,FALSE,FALSE,Draft +GARD:13762,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia intellectual disability syndrome linked to chromosome 16,FALSE,FALSE,Draft +GARD:13763,Legacy,GARD,,,,,,,,,,,,senile retinoschisis,FALSE,FALSE,Draft +GARD:13764,Legacy,GARD,,,,,,,,,,,,Cerebral proliferative angiopathy,FALSE,FALSE,Draft +GARD:13765,Legacy,GARD,,,,,,,,,,,,Monosomía 9p,TRUE,TRUE,Draft +GARD:13766,Legacy,GARD,,,,,,,,,,,,thrombophilia,FALSE,FALSE,Draft +GARD:13767,Legacy,GARD,,,,,,,,,,,,COPA syndrome,FALSE,FALSE,Draft +GARD:13768,Legacy,GARD,,,,,,,,,,,,HIDEA syndrome,FALSE,FALSE,Draft +GARD:13769,Legacy,GARD,,,,,,,,,,,,Xp11.22del,FALSE,FALSE,Draft +GARD:13770,Legacy,GARD,,,,,,,,,,,,Chromosome 4 inversion,FALSE,FALSE,Draft +GARD:13771,Legacy,GARD,,,,,,,,,,,,15q11q13 microduplication syndrome,FALSE,FALSE,Draft +GARD:13772,Legacy,GARD,,,,,,,,,,,,Alice in Wonderland syndrome,FALSE,FALSE,Draft +GARD:13773,Legacy,GARD,,,,,,,,,,,,Mueller Weiss syndrome,FALSE,FALSE,Draft +GARD:13774,Active,Orphanet,ORPHA:468678,Disorder,[Disease],White-Sutton syndrome,[Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).",[616364],,,,,White Sutton syndrome,TRUE,FALSE,Draft +GARD:13775,Legacy,GARD,,,,,,,,,,,,15q26.3 microdeletion,FALSE,FALSE,Draft +GARD:13776,Legacy,GARD,,,,,,,,,,,,Delusional parasitosis,FALSE,FALSE,Draft +GARD:13777,Legacy,GARD,,,,,,,,,,,,Cholangitis,FALSE,FALSE,Draft +GARD:13778,Legacy,GARD,,,,,,,,,,,,Psychiatric disorders,FALSE,FALSE,Draft +GARD:13779,Legacy,GARD,,,,,,,,,,,,fibromyositis,FALSE,FALSE,Draft +GARD:13780,Legacy,GARD,,,,,,,,,,,,Esophageal spasm,FALSE,FALSE,Draft +GARD:13781,Active,Orphanet,ORPHA:250977,Disorder,[Disease],AICA-ribosiduria,"[5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, AICAR transformylase/IMP cyclohydrolase deficiency, ATIC deficiency]","A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.",[608688],,,,,AICA-ribosiduria,TRUE,FALSE,Draft +GARD:13782,Legacy,GARD,,,,,,,,,,,,Colorado Tick Fever,FALSE,FALSE,Draft +GARD:13783,Legacy,GARD,,,,,,,,,,,,Polycythemia,FALSE,FALSE,Draft +GARD:13784,Legacy,GARD,,,,,,,,,,,,Malformaciones arteriovenosas,FALSE,TRUE,Draft +GARD:13785,Legacy,GARD,,,,,,,,,,,,Pulmonary artery aneurysm,FALSE,FALSE,Draft +GARD:13786,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 28,FALSE,FALSE,Draft +GARD:13787,Legacy,GARD,,,,,,,,,,,,Syndromic X-linked intellectual disability due to JARID1C mutation,FALSE,FALSE,Draft +GARD:13788,Legacy,GARD,,,,,,,,,,,,Kounis syndrome,FALSE,FALSE,Draft +GARD:13789,Active,Orphanet,ORPHA:597738,Disorder,[Malformation syndrome],Luscan-Lumish syndrome,[SETD2-related overgrowth syndrome],,,,,,,Luscan-Lumish syndrome,TRUE,FALSE,Draft +GARD:13790,Legacy,GARD,,,,,,,,,,,,candida auris,FALSE,FALSE,Draft +GARD:13791,Legacy,GARD,,,,,,,,,,,,Juvenile Mandibular Chronic Osteomyelitis,FALSE,FALSE,Draft +GARD:13792,Legacy,GARD,,,,,,,,,,,,Mycobacterium avium subspecies paratuberculosis infection,FALSE,FALSE,Draft +GARD:13793,Legacy,GARD,,,,,,,,,,,,Pseudomonas putida,FALSE,FALSE,Draft +GARD:13794,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma of the intestines,TRUE,FALSE,Draft +GARD:13795,Legacy,GARD,,,,,,,,,,,,Avascular necrosis,FALSE,FALSE,Draft +GARD:13796,Legacy,GARD,,,,,,,,,,,,nevus,FALSE,FALSE,Draft +GARD:13797,Legacy,GARD,,,,,,,,,,,,adipsia,FALSE,FALSE,Draft +GARD:13798,Legacy,GARD,,,,,,,,,,,,anhydramnios,FALSE,FALSE,Draft +GARD:13799,Legacy,GARD,,,,,,,,,,,,resistant hypertension,FALSE,FALSE,Draft +GARD:1380,Legacy,GARD,,,,,,,,,,,,Cleft lip palate mental retardation corneal opacity,TRUE,FALSE,Retired +GARD:13800,Legacy,GARD,,,,,,,,,,,,Hyperhomocysteinemia,FALSE,FALSE,Draft +GARD:13801,Legacy,GARD,,,,,,,,,,,,Hyperalphalipoproteinemia,FALSE,FALSE,Draft +GARD:13802,Legacy,GARD,,,,,,,,,,,,Cirrhosis,FALSE,FALSE,Draft +GARD:13803,Legacy,GARD,,,,,,,,,,,,Scabies,FALSE,FALSE,Draft +GARD:13804,Legacy,GARD,,,,,,,,,,,,Leukoencephalopathy,FALSE,FALSE,Draft +GARD:13805,Legacy,GARD,,,,,,,,,,,,Empty nose syndrome,FALSE,FALSE,Draft +GARD:13806,Active,Orphanet,ORPHA:599082,Disorder,[Malformation syndrome],CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,[Snijders Blok-Campeau syndrome],,[618205],,,,,Snijders Blok-Campeau syndrome,TRUE,FALSE,Draft +GARD:13807,Legacy,GARD,,,,,,,,,,,,Kleefstra Syndrome 2,FALSE,FALSE,Draft +GARD:13808,Legacy,GARD,,,,,,,,,,,,Folliculitis,FALSE,FALSE,Draft +GARD:13809,Active,Orphanet,ORPHA:227796,Disorder,[Disease],Fundus albipunctatus,,"Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.",[136880],,,,,Fundus albipunctatus,TRUE,FALSE,Draft +GARD:1381,Legacy,GARD,,,,,,,,,,,,Cleft lip palate oligodontia syndactyly pili torti,TRUE,FALSE,Active +GARD:13810,Legacy,GARD,,,,,,,,,,,,Respiratory Epithelial Adenomatoid Hamartoma,FALSE,FALSE,Draft +GARD:13811,Active,Orphanet,ORPHA:420179,Disorder,[Malformation syndrome],Malan overgrowth syndrome,[Sotos syndrome 2],"A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.",[614753],,,,,Sotos syndrome 2,TRUE,FALSE,Draft +GARD:13812,Legacy,GARD,,,,,,,,,,,,Lymphocytic gastritis,FALSE,FALSE,Draft +GARD:13813,Legacy,GARD,,,,,,,,,,,,Charcot arthropathy of the shoulder and elbow,FALSE,FALSE,Draft +GARD:13814,Legacy,GARD,,,,,,,,,,,,Spingolipid phospholyase deficiency,FALSE,FALSE,Draft +GARD:13815,Legacy,GARD,,,,,,,,,,,,Chromosome Xp duplication,FALSE,FALSE,Draft +GARD:13816,Legacy,GARD,,,,,,,,,,,,Achromatopsia,FALSE,FALSE,Draft +GARD:13817,Legacy,GARD,,,,,,,,,,,,Facioscapulohumeral muscular dystrophy type 2,FALSE,FALSE,Draft +GARD:13818,Active,Orphanet,ORPHA:506334,Disorder,[Disease],Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,[Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency],"A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).",[617575],,,,,Sphingosine phosphate lyase insufficiency syndrome,TRUE,FALSE,Active +GARD:13819,Legacy,GARD,,,,,,,,,,,,Hereditary myopathy,FALSE,FALSE,Draft +GARD:1382,Legacy,GARD,,,,,,,,,,,,Cleft lip palate pituitary deficiency,TRUE,FALSE,Active +GARD:13820,Legacy,GARD,,,,,,,,,,,,Hereditary Papulotranslucent Acrokeratoderma,TRUE,FALSE,Draft +GARD:13821,Legacy,GARD,,,,,,,,,,,,Angioma,FALSE,FALSE,Draft +GARD:13822,Legacy,GARD,,,,,,,,,,,,CDK13-Related Disorder,FALSE,FALSE,Draft +GARD:13823,Legacy,GARD,,,,,,,,,,,,Isolated methylmalonic acidemia/aciduria,TRUE,FALSE,Draft +GARD:13824,Active,Orphanet,ORPHA:324977,Disorder,[Disease],Proteasome-associated autoinflammatory syndrome,"[ALDD syndrome, Autoinflammation-lipodystrophy-dermatosis syndrome, PRAAS, Proteasome disability syndrome]","A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","[619183, 256040, 618048, 617591, 619175]",,,,,Proteasome-associated autoinflammatory syndrome,TRUE,FALSE,Draft +GARD:13825,Legacy,GARD,,,,,,,,,,,,Síndrome de Sheehan,TRUE,TRUE,Draft +GARD:13826,Legacy,GARD,,,,,,,,,,,,KCNMA1-Linked Channelopathy,TRUE,FALSE,Draft +GARD:13827,Legacy,GARD,,,,,,,,,,,,Human papillomavirus,FALSE,FALSE,Draft +GARD:1383,Legacy,GARD,,,,,,,,,,,,Cleft lip palate-tetraphocomelia,TRUE,FALSE,Active +GARD:1386,Legacy,GARD,,,,,,,,,,,,Cleft lower lip cleft lateral canthi chorioretinal,TRUE,FALSE,Active +GARD:1387,Legacy,GARD,,,,,,,,,,,,Cleft palate cardiac defect ectrodactyly,TRUE,FALSE,Retired +GARD:1388,Legacy,GARD,,,,,,,,,,,,Cleft palate colobomata radial synostosis deafness,TRUE,FALSE,Active +GARD:1389,Legacy,GARD,,,,,,,,,,,,Cleft palate heart disease polydactyly absent tibia,TRUE,FALSE,Active +GARD:139,Active,Orphanet,ORPHA:615,Disorder,[Disease],Familial atrial myxoma,,"Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.",[255960],,,,,"Atrial myxoma, familial",TRUE,FALSE,Active +GARD:1391,Active,Orphanet,ORPHA:2016,Disorder,[Malformation syndrome],Cleft palate-lateral synechia syndrome,[CPLS syndrome],Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.,[119550],,,,,Cleft palate lateral synechia syndrome,TRUE,FALSE,Active +GARD:1392,Active,Orphanet,ORPHA:2015,Disorder,[Malformation syndrome],Cleft palate-short stature-vertebral anomalies syndrome,[Mathieu-De Broca-Bony syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.",,,,,,Cleft palate short stature vertebral anomalies,TRUE,FALSE,Active +GARD:1393,Active,Orphanet,ORPHA:2010,Disorder,[Malformation syndrome],Cleft palate-stapes fixation-oligodontia syndrome,,"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.",[216300],,,,,Cleft palate stapes fixation oligodontia,TRUE,FALSE,Active +GARD:1394,Active,Orphanet,ORPHA:324601,Disorder,[Malformation syndrome],X-linked cleft palate and ankyloglossia,,"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.",[303400],,,,,X-linked cleft palate and ankyloglossia,TRUE,FALSE,Active +GARD:1395,Legacy,GARD,,,,,,,,,,,,Cleft tongue,TRUE,FALSE,Active +GARD:1396,Legacy,GARD,,,,,,,,,,,,Cleft upper lip median cutaneous polyps,TRUE,FALSE,Retired +GARD:140,Active,Orphanet,ORPHA:1201,Disorder,[Morphological anomaly],Atresia of small intestine,"[Apple peel syndrome, Intestinal atresia type IIIb, Jejunal atresia, Jejunoileal atresia, Small intestinal atresia]","A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.",[243600],,,,,Atresia of small intestine,TRUE,FALSE,Active +GARD:1400,Legacy,GARD,,,,,,,,,,,,Cloacal exstrophy,TRUE,FALSE,Retired +GARD:1402,Active,Orphanet,ORPHA:93274,Subtype of disorder,[Clinical subtype],Thanatophoric dysplasia type 2,"[Cloverleaf skull-micromelic bone dysplasia syndrome, TD2, Thanatophoric dwarfism type 2, Thanatophoric dwarfism-cloverleaf skull syndrome]","A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.","[187601, 156830]",,,,,Thanatophoric dysplasia type 2,TRUE,FALSE,Active +GARD:1404,Active,Orphanet+OMIM,OMIM:156830,Subtype of disorder,[Clinical subtype],Micromelic bone dysplasia with cloverleaf skull,,"In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, {1:Andersen (1989)} found 2 cases of micromelic dysplasia with cloverleaf skull. One, a male, was born of a 49-year-old father and a 39-year-old mother who were not consanguineous. Micromelic bone dysplasia with cloverleaf skull has the same thoracic, pelvic, and spinal radiographic findings as thanatophoric dysplasia ({187600}) but does not have 'telephone receiver' femora. The micromelia is less severe than in thanatophoric dysplasia. Autosomal recessive inheritance was suggested by {2:Elejalde and de Elejalde (1985)}. The age of the father in Andersen's case suggests a new dominant mutation.\n\nIt is possible that this disorder is indeed a variant of thanatophoric dysplasia and is due to mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; {134934}). {3:Tavormina et al. (1995)} found 3 mutations in that gene correlating with distinct subtypes of thanatophoric dysplasia.",[156830],[93274],[Thanatophoric dysplasia type 2],[1402],,Micromelic bone dysplasia with cloverleaf skull,TRUE,FALSE,Retired +GARD:1409,Legacy,GARD,,,,,,,,,,,,CMV antenatal infection,TRUE,FALSE,Retired +GARD:1410,Active,Orphanet,ORPHA:1454,Disorder,[Disease],Joubert syndrome with hepatic defect,"[COACH syndrome, Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, Gentile syndrome, JS-H, Joubert syndrome with congenital hepatic fibrosis]","Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).","[619111, 216360, 619113]",,,,,COACH syndrome,TRUE,FALSE,Active +GARD:1412,Legacy,GARD,,,,,,,,,,,,Coarse face hypotonia constipation,TRUE,FALSE,Active +GARD:1413,Active,Orphanet,ORPHA:1911,Disorder,[Malformation syndrome],Cocaine embryofetopathy,[Fetal cocaine syndrome],"Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.",,,,,,Cocaine antenatal exposure,TRUE,FALSE,Active +GARD:1415,Active,Orphanet,ORPHA:90321,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 1,[Cockayne syndrome type I],,"[216400, 133540]",,,,,Cockayne syndrome type I,TRUE,FALSE,Active +GARD:1417,Active,Orphanet,ORPHA:90324,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 3,[Cockayne syndrome type III],,"[216400, 133540]",,,,,Cockayne syndrome type III,TRUE,FALSE,Active +GARD:1418,Active,Orphanet,ORPHA:1458,Disorder,[Malformation syndrome],CODAS syndrome,[Cerebrooculodentoauriculoskeletal syndrome],"Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.",[600373],,,,,CODAS syndrome,TRUE,FALSE,Active +GARD:1419,Legacy,GARD,,,,,,,,,,,,Coenzyme Q cytochrome c reductase deficiency of,TRUE,FALSE,Active +GARD:1420,Active,Orphanet,ORPHA:90322,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 2,[Cockayne syndrome type II],,"[216400, 133540]",,,,,Cockayne syndrome type II,TRUE,FALSE,Active +GARD:1421,Active,Orphanet,ORPHA:1467,Disorder,[Disease],Cogan syndrome,,A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.,,,,,,Cogan's syndrome,TRUE,FALSE,Active +GARD:1422,Legacy,GARD,,,,,,,,,,,,Cohen Hayden syndrome,TRUE,FALSE,Retired +GARD:1423,Legacy,GARD,,,,,,,,,,,,Cohen Lockood Wyborney syndrome,TRUE,FALSE,Active +GARD:1425,Active,Orphanet,ORPHA:2050,Disorder,[Malformation syndrome],Cole-Carpenter syndrome,[Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome],"An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).","[616294, 112240]",,,,,Cole Carpenter syndrome,TRUE,FALSE,Active +GARD:1428,Active,Orphanet,ORPHA:2412,Disorder,[Malformation syndrome],Dislocation of the hip-dysmorphism syndrome,[Collins-Pope syndrome],"Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.",[601450],,,,,Collins Pope syndrome,TRUE,FALSE,Active +GARD:1429,Legacy,GARD,,,,,,,,,,,,Collins Sakati syndrome,TRUE,FALSE,Active +GARD:143,Active,Orphanet,ORPHA:2220,Disorder,[Malformation syndrome],Hypertrichosis cubiti,"[Hairy elbows syndrome, MacDermot-Patton-Williams syndrome]","Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.",[139600],,,,,Hairy elbows,TRUE,FALSE,Active +GARD:1430,Legacy,GARD,,,,,,,,,,,,Coloboma chorioretinal cerebellar vermis aplasia,TRUE,FALSE,Retired +GARD:1432,Legacy,GARD,,,,,,,,,,,,Retinochoroidal coloboma,TRUE,FALSE,Active +GARD:1433,Active,Orphanet,ORPHA:98943,Disorder,[Morphological anomaly],Coloboma of eye lens,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.",,,,,,Coloboma of eye lens,TRUE,FALSE,Active +GARD:1434,Active,Orphanet,ORPHA:98944,Disorder,[Morphological anomaly],Coloboma of iris,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.",[120200],,,,,Coloboma of iris,TRUE,FALSE,Active +GARD:1436,Active,Orphanet,ORPHA:98945,Disorder,[Morphological anomaly],Coloboma of macula,,"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.",,,,,,Coloboma of macula,TRUE,FALSE,Active +GARD:1437,Active,Orphanet,ORPHA:1471,Disorder,[Malformation syndrome],Coloboma of macula-brachydactyly type B syndrome,[Sorsby syndrome],"A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.",[120400],,,,,Coloboma of macula with type B brachydactyly,TRUE,FALSE,Active +GARD:1438,Active,Orphanet,ORPHA:98947,Disorder,[Morphological anomaly],Coloboma of optic disc,[Coloboma of optic papilla],"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).",,,,,,Coloboma of optic papilla,TRUE,FALSE,Active +GARD:1439,Legacy,GARD,,,,,,,,,,,,Coloboma porencephaly hydronephrosis,TRUE,FALSE,Active +GARD:144,Active,Orphanet,ORPHA:2083,Disorder,[Malformation syndrome],Prominent glabella-microcephaly-hypogenitalism syndrome,[MacDermot-Winter syndrome],"Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.",[247990],,,,,Mac Dermot Winter syndrome,TRUE,FALSE,Active +GARD:1440,Active,Orphanet,ORPHA:1473,Disorder,[Malformation syndrome],Uveal coloboma-cleft lip and palate-intellectual disability,,"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.",[120433],,,,,Uveal coloboma-cleft lip and palate-intellectual disability,TRUE,FALSE,Active +GARD:1442,Legacy,GARD,,,,,,,,,,,,Colobomata unilobar lung heart defect,TRUE,FALSE,Active +GARD:1443,Active,Orphanet,ORPHA:77298,Disorder,[Malformation syndrome],Anophthalmia/microphthalmia-esophageal atresia syndrome,"[MCOPS3, Syndromic microphthalmia type 3]","A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.",[206900],,,,,"Syndromic microphthalmia, type 3",TRUE,FALSE,Active +GARD:1444,Legacy,GARD,,,,,,,,,,,,Colobomatous microphthalmia heart disease hearing,TRUE,FALSE,Retired +GARD:1446,Active,Orphanet,ORPHA:1198,Disorder,[Morphological anomaly],Colonic atresia,,Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.,[303650],,,,,Colonic atresia,TRUE,FALSE,Active +GARD:1448,Legacy,GARD,,,,,,,,,,,,Colver Steer Godman syndrome,TRUE,FALSE,Active +GARD:1449,Legacy,GARD,,,,,,,,,,,,Combarros Calleja Leno syndrome,TRUE,FALSE,Active +GARD:1452,Active,Orphanet+OMIM,OMIM:217000,Subtype of disorder,[Disease subtype],Complement component 2 deficiency,[C2 deficiency],,[217000],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,Complement component 2 deficiency,TRUE,FALSE,Active +GARD:1453,Legacy,GARD,,,,,,,,,,,,Complement component receptor 1,TRUE,FALSE,Active +GARD:1454,Active,Orphanet,ORPHA:1329,Disorder,[Morphological anomaly],Complete atrioventricular septal defect,"[CAVC, Complete AVSD, Complete atrioventricular canal, Complete atrioventricular canal defect, Complete atrioventricular septal defect with atrial and ventricular components]","A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.",,,,,,Complete atrioventricular canal,TRUE,FALSE,Active +GARD:1459,Legacy,GARD,,,,,,,,,,,,Mitochondrial complex V deficiency,TRUE,FALSE,Active +GARD:1460,Active,Orphanet,ORPHA:3216,Disorder,[Malformation syndrome],Conductive deafness-malformed external ear syndrome,"[Conductive hearing loss-malformed external ear syndrome, Mengel-Konigsmark syndrome]","A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.",[221300],,,,,Conductive deafness with malformed external ear,TRUE,FALSE,Active +GARD:1462,Active,Orphanet+OMIM,OMIM:300085,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.",[300085],[1871],[Progressive cone dystrophy],[11897],,Cone-rod dystrophy X-linked 2,TRUE,FALSE,Active +GARD:1463,Active,Orphanet,ORPHA:1873,Disorder,[Malformation syndrome],Jalili syndrome,[Cone rod dystrophy-amelogenesis imperfecta syndrome],Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).,[217080],,,,,Cone-rod dystrophy amelogenesis imperfecta,TRUE,FALSE,Active +GARD:1465,Active,Orphanet,ORPHA:90790,Disorder,[Disease],Congenital lipoid adrenal hyperplasia due to STAR deficency,[CLAH],A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.,[201710],,,,,Congenital lipoid adrenal hyperplasia,TRUE,FALSE,Active +GARD:1467,Active,Orphanet,ORPHA:418,Group of disorders,[Clinical group],Congenital adrenal hyperplasia,[CAH],"A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.","[202110, 201910, 202010, 201810, 201710, 613571]",,,,,Congenital adrenal hyperplasia,TRUE,FALSE,Active +GARD:1469,Active,Orphanet,ORPHA:90793,Disorder,[Disease],Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"[CAH due to 17-alpha-hydroxylase deficiency, Combined 17-hydroxylase/17,20-lyase deficiency]","A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.",[202110],,,,,17-alpha-hydroxylase deficiency,TRUE,FALSE,Active +GARD:147,Legacy,GARD,,,,,,,,,,,,"Macrocephaly, benign familial",TRUE,FALSE,Active +GARD:1470,Active,Orphanet+OMIM,OMIM:300042,Subtype of disorder,[Disease subtype],"Alopecia, congenital",,,[300042],[700],[Alopecia totalis],[613],,Congenital alopecia X-linked,TRUE,FALSE,Retired +GARD:1471,Legacy,GARD,,,,,,,,,,,,Congenital amputation,TRUE,FALSE,Active +GARD:1472,Legacy,GARD,,,,,,,,,,,,Congenital aneurysms of the great vessels,TRUE,FALSE,Active +GARD:1473,Legacy,GARD,,,,,,,,,,,,Congenital articular rigidity,TRUE,FALSE,Active +GARD:1474,Active,Orphanet,ORPHA:1216,Disorder,[Disease],Autosomal dominant congenital benign spinal muscular atrophy,"[Autosomal dominant benign distal spinal muscular atrophy, Congenital benign spinal muscular atrophy with contractures, Congenital nonprogressive spinal muscular atrophy]","A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.",[600175],,,,,Congenital benign spinal muscular atrophy dominant,TRUE,FALSE,Active +GARD:1475,Active,Orphanet,ORPHA:2040,Disorder,[Morphological anomaly],Congenital respiratory-biliary fistula,,"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.",,,,,,Congenital bronchobiliary fistula,TRUE,FALSE,Active +GARD:1477,Legacy,GARD,,,,,,,,,,,,Congenital contractures,TRUE,FALSE,Active +GARD:1478,Legacy,GARD,,,,,,,,,,,,Congenital craniosynostosis maternal hyperthyroiditis,TRUE,FALSE,Active +GARD:1479,Legacy,GARD,,,,,,,,,,,,Congenital cystic eye multiple ocular and intracranial anomalies,TRUE,FALSE,Active +GARD:148,Legacy,GARD,,,,,,,,,,,,"Mental retardation, macrocephaly, short stature and craniofacial dysmorphism",TRUE,FALSE,Retired +GARD:1480,Active,Orphanet,ORPHA:294,Disorder,[Disease],Fetal cytomegalovirus syndrome,"[Antenatal CMV infection, Antenatal cytomegalovirus infection, Mother-to-child transmission of cytomegalovirus syndrome]","A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.",,,,,,Congenital cytomegalovirus,TRUE,FALSE,Active +GARD:1481,Active,Orphanet,ORPHA:2140,Disorder,[Morphological anomaly],Congenital diaphragmatic hernia,[CDH],"A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.","[222400, 610187, 142340, 306950]",,,,,Congenital diaphragmatic hernia,TRUE,FALSE,Active +GARD:1483,Legacy,GARD,,,,,,,,,,,,Congenital heart disease ptosis hypodontia craniostosis,TRUE,FALSE,Active +GARD:1484,Legacy,GARD,,,,,,,,,,,,Congenital heart disease radio ulnar synostosis mental retardation,TRUE,FALSE,Retired +GARD:1486,Legacy,GARD,,,,,,,,,,,,Congenital herpes simplex,TRUE,FALSE,Active +GARD:1487,Active,Orphanet,ORPHA:442,Group of disorders,[Category],Congenital hypothyroidism,,Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.,,,,,,Congenital hypothyroidism,TRUE,FALSE,Active +GARD:1488,Legacy,GARD,,,,,,,,,,,,Congenital hypotrichosis milia,TRUE,FALSE,Active +GARD:1489,Active,Orphanet,ORPHA:2271,Disorder,[Disease],Congenital ichthyosis-microcephalus-tetraplegia syndrome,[Congenital ichthyosis-microcephalus-quadriplegia syndrome],"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.",,,,,,"Congenital ichthyosis, microcephalus, quadriplegia",TRUE,FALSE,Retired +GARD:149,Legacy,GARD,,,,,,,,,,,,Prostatic malacoplakia associated with prostatic abscess,TRUE,FALSE,Active +GARD:1492,Legacy,GARD,,,,,,,,,,,,Congenital megalo-ureter,TRUE,FALSE,Active +GARD:1493,Active,Orphanet,ORPHA:2665,Disorder,[Disease],Congenital mesoblastic nephroma,,"A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable.",,,,,,Congenital mesoblastic nephroma,TRUE,FALSE,Active +GARD:1495,Active,Orphanet,ORPHA:2447,Group of disorders,[Category],Congenital mitral malformation,,,,,,,,Congenital mitral malformation,TRUE,FALSE,Active +GARD:1496,Active,Orphanet,ORPHA:99057,Disorder,[Morphological anomaly],Congenital mitral stenosis,,"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.",,,,,,Congenital mitral stenosis,TRUE,FALSE,Active +GARD:1497,Legacy,GARD,,,,,,,,,,,,Congenital myxovirus,TRUE,FALSE,Active +GARD:1498,Legacy,GARD,,,,,,,,,,,,Congenital mumps,TRUE,FALSE,Active +GARD:1499,Legacy,GARD,,,,,,,,,,,,Congenital muscular dystrophy syringomyelia,TRUE,FALSE,Retired +GARD:15,Legacy,GARD,,,,,,,,,,,,Antisocial personality disorder,FALSE,FALSE,Retired +GARD:150,Legacy,GARD,,,,,,,,,,,,Sammartino Decreccio syndrome,TRUE,FALSE,Active +GARD:1500,Active,Orphanet,ORPHA:839,Disorder,[Disease],"Congenital nephrotic syndrome, Finnish type",[Finnish congenital nephrosis],A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.,[256300],,,,,Congenital nephrotic syndrome Finnish type,TRUE,FALSE,Active +GARD:15000,Active,Orphanet,ORPHA:99812,Disorder,[Disease],LIG4 syndrome,"[DNA ligase IV deficiency, Ligase 4 syndrome]","LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).",[606593],,,,,,,, +GARD:15001,Active,Orphanet,ORPHA:596753,Disorder,[Disease],VEXAS syndrome,,,[301054],,,,,,,, +GARD:15002,Draft,GARD,,Disorder,[Disease],AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY,[Cleavage-resistant RIPK1-induced autoinflammatory CRIA syndrome],"Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 ({147620}) and TNF ({191160}), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R ({147880}) antibodies may result in clinical improvement (summary by {1:Lalaoui et al., 2020}).",[618852],,,[30000],RDrequest.0001,,,, +GARD:15003,Active,Orphanet,ORPHA:566175,Disorder,[Disease],Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,"[CD55 deficiency, CHAPLE syndrome]",,[226300],,,,,,,, +GARD:15004,Active,Orphanet,ORPHA:306550,Disorder,[Disease],FADD-related immunodeficiency,,"FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.",[613759],,,,,,,, +GARD:15005,Draft,GARD,,Disorder,[Disease],PACAK-ZHUANG syndrome,,,,,,[30000],RDrequest.0002,,,, +GARD:15006,Draft,GARD,,Disorder,[Disease],STAT5 Haploinsuffciency,,,,,,[30000],RDRequest.0003,,,, +GARD:15007,Draft,GARD,,Disorder,[Disease],Warburg-Cinotti syndrome,,"Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis ({3:Xu et al., 2018}).",[618175],,,[30000],RDrequest.0004,,,, +GARD:15008,Draft,GARD,,Disorder,[Disease],Okur-Chung neurodevelopmental syndrome (OCNDS),,"Okur-Chung neurodevelopmental syndrome (OCNDS) is characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients ({3:Okur et al., 2016}).",[617062],,,[30000],RDRequest.0005,,,, +GARD:15010,Active,Orphanet,ORPHA:145,Disorder,[Disease],Hereditary breast and ovarian cancer syndrome,,"Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.","[612555, 604370, 614291, 613399]",,,,,,,, +GARD:15011,Active,Orphanet+OMIM,OMIM:300554,Subtype of disorder,[Clinical subtype],"Hypophosphatemic rickets, x-linked recessive",,"X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({5:Scheinman, 1998}; {2:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[300554],[93622],[Dent disease type 1],[1804],,,,, +GARD:15012,Active,Orphanet,ORPHA:667,Disorder,[Malformation syndrome],Autosomal recessive malignant osteopetrosis,[Infantile malignant osteopetrosis],Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.,"[615085, 259710, 611490, 259700]",,,,,,,, +GARD:15013,Active,Orphanet,ORPHA:1522,Disorder,[Malformation syndrome],Craniometaphyseal dysplasia,,"Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.","[218400, 123000]",,,,,,,, +GARD:15014,Active,Orphanet,ORPHA:2126,Disorder,[Disease],Solitary fibrous tumor/hemangiopericytoma,[SFT/HPC],"A rare spindle cell neoplasm that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).",[234820],,,,,,,, +GARD:15015,Active,Orphanet,ORPHA:49382,Disorder,[Disease],Achromatopsia,"[ACHM, Complete or incomplete color blindness, Pingelapese blindness, Rod monochromacy, Rod monochromatism, Total color blindness]","A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.","[262300, 216900, 613093, 613856, 610024, 616517]",,,,,,,, +GARD:15016,Active,Orphanet,ORPHA:50942,Disorder,[Disease],Striate palmoplantar keratoderma,"[Keratosis palmoplantaris striata, Keratosis palmoplantaris striata et areata, Keratosis palmoplantaris varians of Wachters]","Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","[148700, 612908, 607654]",,,,,,,, +GARD:15017,Active,Orphanet,ORPHA:77258,Disorder,[Malformation syndrome],Trichorhinophalangeal syndrome type 1 and 3,,"A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial dysmorphism (bulbous tip of the nose, long flat philtrum, thin upper lip vermilion, and protruding ears), and skeletal anomalies including cone-shaped phalangeal epiphyses, hip dysplasia, and short stature. Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types.","[190350, 190351]",,,,,,,, +GARD:15018,Active,Orphanet,ORPHA:1478,Disorder,[Morphological anomaly],Interatrial communication,"[ASD, Atrial septal defect, Interauricular communication]",A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart.,"[612794, 614475, 607941, 108800, 613087, 614433, 611363, 614089]",,,,,,,, +GARD:15019,Active,Orphanet,ORPHA:84090,Disorder,[Disease],Fibronectin glomerulopathy,"[GFND, Glomerulopathy with fibronectin deposits]","A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.","[601894, 137950]",,,,,,,, +GARD:1502,Active,Orphanet,ORPHA:104008,Group of disorders,[Clinical group],Short bowel syndrome,,"Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.",,,,,,Short bowel syndrome,TRUE,FALSE,Active +GARD:15020,Active,Orphanet,ORPHA:90695,Disorder,[Disease],Non-acquired panhypopituitarism,[Genetic panhypopituitarism],"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.","[312000, 262600]",,,,,,,, +GARD:15021,Active,Orphanet,ORPHA:95429,Disorder,[Disease],Angioma serpiginosum,,A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.,"[300652, 106050]",,,,,,,, +GARD:15022,Active,Orphanet,ORPHA:98913,Subtype of disorder,[Etiological subtype],Postsynaptic congenital myasthenic syndromes,,,"[616326, 616313, 616720, 608930, 605809, 616321, 608931, 616322, 601462, 616314, 616323, 616324, 614198, 616325, 616304, 615120, 254300]",,,,,,,, +GARD:15023,Active,Orphanet,ORPHA:98914,Subtype of disorder,[Etiological subtype],Presynaptic congenital myasthenic syndromes,,,"[617143, 616330, 616040, 618197, 618323, 254210, 616720, 617239, 615120, 618198]",,,,,,,, +GARD:15024,Active,Orphanet,ORPHA:166002,Disorder,[Disease],Multiple epiphyseal dysplasia due to collagen 9 anomaly,,"Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.","[600969, 600204, 614135]",,,,,,,, +GARD:15025,Active,Orphanet,ORPHA:169147,Disorder,[Disease],Immunodeficiency due to a classical component pathway complement deficiency,"[Immunodeficiency due to C1, C4, or C2 component complement deficiency, Immunodeficiency due to an early component of complement deficiency]","Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","[614380, 613783, 613652, 614379, 217000, 216950]",,,,,,,, +GARD:15026,Active,Orphanet,ORPHA:183678,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to AP-3 deficiency,[Hermansky-Pudlak syndrome with neutropenia],"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.","[608233, 617050]",,,,,,,, +GARD:15027,Active,Orphanet,ORPHA:199241,Disorder,[Disease],Pulmonary capillary hemangiomatosis,,,[234810],,,,,,,, +GARD:15028,Active,Orphanet,ORPHA:442835,Disorder,[Disease],Non-specific early-onset epileptic encephalopathy,"[Non-specific EOEE, Undetermined EOEE, Undetermined early-onset epileptic encephalopathy]","A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.","[617836, 617938, 615833, 615905, 618468, 617829, 616211, 618012, 617830, 617831, 619124, 615871, 614558, 616409, 617854, 617020, 618559, 617166, 618437, 618916, 618959, 618910, 617132, 617162, 301058, 618201, 618557, 618396, 301008, 617105, 617106, 616366, 616346, 618008, 616339, 617153, 616056, 615476]",,,,,,,, +GARD:15029,Active,Orphanet+OMIM,OMIM:100050,Subtype of disorder,[Malformation syndrome subtype],"Aarskog syndrome, autosomal dominant",,"Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see {305400}), but there is also evidence for autosomal dominant and autosomal recessive ({227330}) inheritance (summary by {1:Grier et al., 1983}).",[100050],[915],[Aarskog-Scott syndrome],[4775],,,,, +GARD:1503,Active,Orphanet,ORPHA:1987,Disorder,[Malformation syndrome],Femoral agenesis/hypoplasia,"[Congenital short femur, Femoral intercalary meromelia]",Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.,,,,,,Congenital femoral deficiency,TRUE,FALSE,Active +GARD:15030,Active,Orphanet+OMIM,OMIM:101800,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Acrodysostosis 1 with or without hormone resistance,[Adohr],"Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by {8:Linglart et al., 2011}). However, not all patients show endocrine abnormalities ({7:Lee et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Acrodysostosis\n\nSee also ACRDYS2 ({614613}), caused by mutation in the PDE4D gene ({600129}) on chromosome 5q12.",[101800],"[280651, 950]","[Acrodysostosis with multiple hormone resistance, Acrodysostosis]","[5724, 17300]",,,,, +GARD:15031,Active,Orphanet+OMIM,OMIM:102400,Subtype of disorder,[Malformation syndrome subtype],Acroosteolysis,,,[102400],[955],[Hajdu-Cheney syndrome],[508],,,,, +GARD:15032,Active,Orphanet+OMIM,OMIM:102530,Subtype of disorder,[Clinical subtype],Spermatogenic failure 6,"[acrosome malformation of spermatozoa, round-headed spermatozoa, spermatozoa, round-headed, Globozoospermia]","Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects ({9:Lalonde et al., 1988}, {11:Singh, 1992}). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon ({1:Battaglia et al., 1997}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[102530],[171709],[Male infertility due to globozoospermia],[12502],,,,, +GARD:15033,Active,Orphanet+OMIM,OMIM:103230,Subtype of disorder,[Disease subtype],"Adrenocortical hypofunction, chronic primary congenital","[Addison disease, congenital]","{1:Chuandi et al. (1985)} reported a Chinese kindred in which persons in 3 generations, and by implication at least 1 person in a fourth earlier generation, had chronic adrenal insufficiency. This was manifest by hyperpigmentation, hypernatriuria, hypokaliuria, and decreased plasma total cortisol and urine free cortisol; PTC, UFC and 17-OHCS did not respond to ACTH stimulation. Eleven affected persons in 5 sibships were identified, including several instances of male-to-male transmission.",[103230],[85138],[Addison disease],[5740],,,,, +GARD:15034,Active,Orphanet+OMIM,OMIM:103920,Subtype of disorder,[Disease subtype],"Allergic bronchopulmonary aspergillosis, familial",,,[103920],[1164],[Allergic bronchopulmonary aspergillosis],[602],,,,, +GARD:15035,Active,Orphanet+OMIM,OMIM:104000,Subtype of disorder,[Disease subtype],Alopecia areata 1,,"Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body ({6:Gilhar and Kalish, 2006}).",[104000],[700],[Alopecia totalis],[613],,,,, +GARD:15036,Active,Orphanet+OMIM,OMIM:104290,Subtype of disorder,[Disease subtype],Alternating hemiplegia of childhood 1,,"Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment ({5:Mikati et al., 1992}).\n\nThe disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; {141500}) and GLUT1 deficiency syndrome ({606777}) ({6:Rotstein et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Alternating Hemiplegia of Childhood\n\nSee also AHC2 ({614820}), caused by mutation in the ATP1A3 gene ({182350}).",[104290],[2131],[Alternating hemiplegia of childhood],[11],,,,, +GARD:15037,Active,Orphanet+OMIM,OMIM:104500,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ib","[enamel hypoplasia, hereditary localized, Amelogenesis imperfecta, hypoplastic local, autosomal dominant, aih2]","Amelogenesis imperfecta type IB is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by {2:Brookes et al., 2017}).",[104500],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15038,Active,Orphanet+OMIM,OMIM:104530,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ia","[Amelogenesis imperfecta, hypoplastic type ia]","Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see {8:Witkop, 1989}).",[104530],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15039,Active,Orphanet+OMIM,OMIM:105650,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 1,"[aase syndrome, Dba, red cell aplasia, pure, hereditary, blackfan-diamond syndrome, aregenerative anemia, chronic congenital, erythrogenesis imperfecta, aase-smith syndrome ii, anemia, congenital hypoplastic, of blackfan and diamond, anemia, congenital erythroid hypoplastic]","Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {44:Landowski et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Diamond-Blackfan Anemia\n\nA locus for DBA (DBA2; {606129}) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 ({610629}), caused by mutation in the RPS24 gene ({602412}) on 10q22; DBA4 ({612527}), caused by mutation in the RPS17 gene ({180472}) on 15q; DBA5 ({612528}), caused by mutation in the RPL35A gene ({180468}) on 3q29; DBA6 ({612561}), caused by mutation in the RPL5 gene ({603634}) on 1p22.1; DBA7 ({612562}), caused by mutation in the RPL11 gene ({604175}) on 1p36; DBA8 ({612563}), caused by mutation in the RPS7 gene ({603658}) on 2p25; DBA9 ({613308}), caused by mutation in the RPS10 gene ({603632}) on 6p; DBA10 ({613309}), caused by mutation in the RPS26 ({603701}) gene on 12q; DBA11 ({614900}), caused by mutation in the RPL26 gene ({603704}) on 17p13; DBA12 ({615550}), caused by mutation in the RPL15 gene ({604174}) on 3p24; DBA13 ({615909}), caused by mutation in the RPS29 gene ({603633}) on 14q; DBA14 ({300946}), caused by mutation in the TSR2 gene ({300945}) on Xp11; DBA15 ({606164}), caused by mutation in the RPS28 gene ({603685}) on 19p13; DBA16 ({617408}), caused by mutation in the RPL27 gene ({607526}) on 17q21; DBA17 ({617409}), caused by mutation in the RPS27 gene ({603702}) on 1q21; DBA18 ({618310}), caused by mutation in the RPL18 gene ({604179}) on 19q; DBA19 ({618312}), caused by mutation in the RPL35 gene ({618315}) on 9q33; and DBA20 ({618313}), caused by mutation in the RPS15A gene ({603674}) on 16p.\n\n{7:Boria et al. (2010)} reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.\n\n{25:Gazda et al. (2012)} completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. {25:Gazda et al. (2012)} stated that in total these mutations account for approximately 54% of all DBA patients.\n\nIn a study of 98 Japanese patients with DBA, {64:Wang et al. (2015)} detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.",[105650],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:1504,Legacy,GARD,,,,,,,,,,,,Congenital stenosis of cervical medullary canal,TRUE,FALSE,Active +GARD:15040,Active,Orphanet+OMIM,OMIM:107000,Subtype of disorder,[Clinical subtype],"Nail disorder, nonsyndromic congenital, 6","[Anonychia/hyponychia and onychodystrophy, anonychia, partial]","Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, {206800}), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by {2:Charteris, 1918}). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050}).",[107000],[90390],[Anonychia-onychodystrophy syndrome],[710],,,,, +GARD:15041,Active,Orphanet+OMIM,OMIM:108420,Subtype of disorder,[Disease subtype],Spermatogenic failure 2,[Aspermiogenesis factor],"Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia ({14:Tang et al., 2020}; {1:Akbari et al., 2021}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[108420],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15042,Active,Orphanet+OMIM,OMIM:109543,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[109543],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15043,Active,Orphanet+OMIM,OMIM:109720,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 1",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {8:Kaplan, 1996}).\n\n<Subhead> Genetic Heterogeneity of Primary Biliary Cirrhosis\n\nPrimary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus ({161560}) on chromosome 3q25.33.\n\nSignificant association of PBC has also been shown with SNPs at the HLA-DQB1 locus ({604305}) on chromosome 6p21.3 (PBC2; {613007}), at the IL12RB2 locus ({601642}) on chromosome 1p31.2 (PBC3; {613008}), at the IRF5 ({607218})-TNPO3 ({610032}) locus on chromosome 7q32 (PBC4; {614220}), and at the ZPBP2 locus ({608499}) on chromosome 17q12-q21 (PBC5; {614221}).\n\nSee also Reynolds syndrome ({613471}), in which primary biliary cirrhosis is a feature.",[109720],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15044,Active,Orphanet+OMIM,OMIM:109740,Subtype of disorder,[Malformation syndrome subtype],"Bifid nose, autosomal dominant",,,[109740],[2695],[Bifid nose],[884],,,,, +GARD:15045,Active,Orphanet+OMIM,OMIM:113700,Subtype of disorder,[Morphological anomaly subtype],"Breasts and/or nipples, aplasia or hypoplasia of, 1","[Amastia, athelia, amazia]","Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) and Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples\n\nAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; {616001}) is caused by mutation in the PTPRF gene ({179590}) on chromosome 1p34.",[113700],[180188],[Isolated congenital breast hypoplasia/aplasia],[9489],,,,, +GARD:15046,Active,Orphanet+OMIM,OMIM:115660,Subtype of disorder,[Clinical subtype],Cataract 7,,"Cerulean cataract, first described by {4:Vogt (1922)}, is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years ({1:Armitage et al., 1995}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'",[115660],[98989],[Cerulean cataract],[9508],,,,, +GARD:15047,Active,Orphanet+OMIM,OMIM:116200,Subtype of disorder,[Malformation syndrome subtype],"Cataract 1, multiple types","[cataract, zonular pulverulent, 1, Cataract 1, multiple types, with or without microcornea, cataract, duffy-linked]","Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.\n\nBefore it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.",[116200],[1377],[Cataract-microcornea syndrome],[1155],,,,, +GARD:15048,Active,Orphanet+OMIM,OMIM:117550,Subtype of disorder,[Disease subtype],Sotos syndrome,"[chromosome 5q35 deletion syndrome, Cerebral gigantism, sotos syndrome 1, formerly]","Sotos syndrome (SOTOS) is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development (summary by {34:Kurotaki et al., 2002}).\n\nWeaver syndrome ({277590}), which shows considerable phenotypic overlap with Sotos syndrome, has been shown to be caused by mutation in the EZH2 gene ({601573}) on chromosome 7q36.",[117550],[821],[Sotos syndrome],[10091],,,,, +GARD:15049,Active,Orphanet+OMIM,OMIM:118100,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 1, autosomal dominant","[cervical vertebral fusion, autosomal dominant, Kfs]","Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({22:Tracy et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Klippel-Feil Syndrome\n\nAdditional forms of KFS include autosomal recessive KFS2 ({214300}), caused by mutation in the MEOX1 gene ({600147}) on chromosome 17q21, autosomal dominant KFS3 ({613702}), caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13, and autosomal recessive KFS4 ({616549}), caused by mutation in the MYO18B gene ({607295}) on chromosome 22q12.\n\nSee also MURCS association ({601076}), in which Klippel-Feil anomaly is associated with urogenital anomalies.",[118100],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15050,Active,Orphanet+OMIM,OMIM:119100,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation with long bone deficiency 1,,"This form of split-hand/foot malformation with long bone deficiency (SHFLD1) maps to chromosome 1q42.2-q43.\n\nSee also SHFLD2 ({610685}), which maps to chromosome 6q14.1, and SHFLD3 ({612576}), which maps to chromosome 17p13.3-p13.1. Split-hand/foot malformation with fibular hypoplasia/aplasia has also been reported, see {113310}.",[119100],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15051,Active,Orphanet+OMIM,OMIM:120100,Subtype of disorder,[Disease subtype],Familial cold autoinflammatory syndrome 1,"[Fcas, cold-induced autoinflammatory syndrome, familial, cryopyrin-associated periodic syndrome 1, cold urticaria, familial, cold hypersensitivity]","Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' ({9:Kile and Rusk, 1940}) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis ({6:Hoffman et al., 2000}).\n\nOverlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; {191900}), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype.\n\n<Subhead> Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome\n\nSee also FCAS2 ({611762}), caused by mutation in the NLRP12 gene ({609648}) on chromosome 19q13; FCAS3 ({614468}), caused by mutation in the PLCG2 gene ({600220}) on chromosome 16q23; and FCAS4 ({616115}), caused by mutation in the NLRC4 gene ({606831}) on chromosome 2p22.",[120100],[47045],[Familial cold urticaria],[9535],,,,, +GARD:15052,Active,Orphanet+OMIM,OMIM:120435,Subtype of disorder,[Disease subtype],Lynch syndrome i,"[coca1, Colorectal cancer, hereditary nonpolyposis, type 1, colon cancer, familial nonpolyposis, type 1]","Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract ({50:Lynch and Lynch, 1979}; {51:Lynch et al., 1985}; {59:Mecklin and Jarvinen, 1991}). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.\n\n{48:Lynch et al. (1991)} estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.\n\nThe Muir-Torre syndrome (MRTES; {158320}) is a form of Lynch syndrome II associated with sebaceous skin tumors.\n\n<Subhead> Genetic Heterogeneity of HNPCC\n\nHNPCC is a genetically heterogeneous disease. See also HNPCC2 ({609310}), caused by mutation in the MLH1 gene ({120436}); HNPCC4 ({614337}), caused by mutation in the PMS2 gene ({600259}); HNPCC5 ({614350}), caused by mutation in the MSH6 gene ({600678}); HNPCC6 ({614331}), caused by mutation in the TGFBR2 gene ({190182}); HNPCC7 ({614385}), caused by mutation in the MLH3 gene ({604395}). HNPCC8 ({613244}) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene ({185535}) and intergenic regions directly upstream of the MSH2 gene.\n\nSince defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.",[120435],[144],[Lynch syndrome],[9905],,,,, +GARD:15053,Active,Orphanet+OMIM,OMIM:120502,Subtype of disorder,[Malformation syndrome subtype],Branchiootic syndrome 2,,"For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 ({602588}).",[120502],[52429],[Branchiootic syndrome],[10148],,,,, +GARD:15054,Active,Orphanet+OMIM,OMIM:121201,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, 2","[Convulsions, benign familial neonatal, 2]","Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by {2:Fister et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200}).",[121201],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15055,Active,Orphanet+OMIM,OMIM:123700,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 1",,"Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {5:Davidson and Giro, 2002}).\n\nAutosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by {7:Graul-Neumann et al., 2008}).\n\nLoose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; {231070}) and Costello syndrome ({218040}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Cutis Laxa\n\nAlso see ADCL2 ({614434}), caused by mutation in the FBLN5 gene ({604580}) on chromosome 14q32, and ADCL3 ({616603}), caused by mutation in the ALDH18A1 ({138250}) gene on chromosome 10q24.",[123700],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:15056,Active,Orphanet+OMIM,OMIM:124000,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 1",,"Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival ({2:de Lonlay et al., 2001}; {3:De Meirleir et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex III Deficiency\n\nMitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 ({615157}), caused by mutation in the TTC19 gene ({613814}) on chromosome 17p12; MC3DN3 ({615158}), caused by mutation in the UQCRB gene ({191330}) on chromosome 8q; MC3DN4 ({615159}), caused by mutation in the UQCRQ gene ({612080}) on chromosome 5q31; MC3DN5 ({615160}), caused by mutation in the UQCRC2 gene ({191329}) on chromosome 16p12; MC3DN6 ({615453}), caused by mutation in the CYC1 gene ({123980}) on chromosome 8q24; MC3DN7 ({615824}), caused by mutation in the UQCC2 gene ({614461}) on chromosome 6p21; MC3DN8 ({615838}), caused by mutation in the LYRM7 gene ({615831}) on chromosome 5q23; MC3DN9 ({616111}), caused by mutation in the UQCC3 gene ({616097}) on chromosome 11q12; and MC3DN10 ({618775}), caused by mutation in the UQCRFS1 gene ({191327}) on chromosome 19q12.\n\nSee also MTYCB ({516020}) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.",[124000],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15057,Active,Orphanet+OMIM,OMIM:125250,Subtype of disorder,[Disease subtype],"Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",[Dominant optic atrophy plus syndrome],"Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes ({18:Yu-Wai-Man et al., 2010}).",[125250],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,,,, +GARD:15058,Active,Orphanet+OMIM,OMIM:125800,Subtype of disorder,[Disease subtype],"Diabetes insipidus, nephrogenic, 2, autosomal","[Diabetes insipidus, nephrogenic, type ii]","Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form, type I (NDI1; {304800}), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; {300538}). The remaining 10% of patients have the autosomal form, type II (NDI2), caused by mutation in the AQP2 gene ({11:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus (CDI; {125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.",[125800],[223],[Nephrogenic diabetes insipidus],[7178],,,,, +GARD:15059,Active,Orphanet+OMIM,OMIM:126050,Subtype of disorder,[Malformation syndrome subtype],Digitotalar dysmorphism,"[Ulnar drift, hereditary]",,[126050],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:15060,Active,Orphanet+OMIM,OMIM:126700,Subtype of disorder,[Disease subtype],Basal laminar drusen,"[Drusen of bruch membrane, drusen, cuticular, drusen, early adult-onset, grouped]","Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by {1:Bok, 2002}, {2:Boon et al., 2008}).",[126700],[75376],[Familial drusen],[1912],,,,, +GARD:15061,Active,Orphanet+OMIM,OMIM:128100,Subtype of disorder,[Disease subtype],"Dystonia 1, torsion, autosomal dominant","[Dystonia musculorum deformans 1, early-onset torsion dystonia]","'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance ({42:Muller and Kupke, 1990}; {44:Nemeth, 2002}).",[128100],[256],[Early-onset generalized limb-onset dystonia],[2027],,,,, +GARD:15062,Active,Orphanet+OMIM,OMIM:129600,Subtype of disorder,[Malformation syndrome subtype],"Ectopia lentis 1, isolated, autosomal dominant",,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({11:Greene et al., 2010}).\n\nCiting the revised Ghent criteria for Marfan syndrome, {16:Loeys et al. (2010)} proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS).\n\n<Subhead> Genetic Heterogeneity of Isolated Ectopia Lentis\n\nAn autosomal recessive form of isolated ectopia lentis (ECTOL2; {225100}) is caused by mutation in the ADAMTSL4 gene ({610113}).",[129600],[1885],[Isolated ectopia lentis],[12251],,,,, +GARD:15063,Active,Orphanet+OMIM,OMIM:129900,Subtype of disorder,[Malformation syndrome subtype],"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1",,"This form of ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, designated EEC1, has been linked to chromosome 7q11.2-q21.3. Another form of the disorder, designated EEC3 ({604292}), is caused by mutation in the TP63 gene ({603273}).",[129900],[1896],[EEC syndrome],[2076],,,,, +GARD:15064,Active,Orphanet+OMIM,OMIM:130600,Subtype of disorder,[Disease subtype],Elliptocytosis 2,"[Elliptocytosis, rhesus-unlinked type]",,[130600],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:15065,Active,Orphanet+OMIM,OMIM:132100,Subtype of disorder,[Disease subtype],Photoparoxysmal response 1,,"The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation ({5:Doose and Waltz, 1993}).\n\nPhotosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see {600669}), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy ({9:Stephani et al., 2004}; {10:Tauer et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Photoparoxysmal Response\n\nThe PPR1 locus has been mapped to chromosome 6p21. See also PPR2 ({609572}), mapped to chromosome 13q31, and PPR3 ({609573}), mapped to chromosome 7q32.",[132100],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15066,Active,Orphanet+OMIM,OMIM:133180,Subtype of disorder,[Disease subtype],"Erythroleukemia, familial, susceptibility to","[leukemia, acute myelogenous, m6, Di guglielmo disease, familial]","Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree ({11:Park et al., 2002}).\n\n{11:Park et al. (2002)} discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; {601626}). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system ({2:Bennett et al., 1985}), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system ({6:Harris et al., 1999}), it is known as 'AML, not otherwise categorized' ({13:Zini and D'Onofrio, 2004}).",[133180],[318],[Acute erythroid leukemia],[9620],,,,, +GARD:15067,Active,Orphanet+OMIM,OMIM:133540,Subtype of disorder,[Clinical subtype],Cockayne syndrome b,,"Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by {5:Mallery et al., 1998}).\n\nCockayne syndrome A (CSA; {216400}) is caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene ({4:Licht et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see {216400}.",[133540],"[90321, 90322, 90324]","[Cockayne syndrome type 2, Cockayne syndrome type 1, Cockayne syndrome type 3]","[1417, 1415, 1420]",,,,, +GARD:15068,Active,Orphanet+OMIM,OMIM:133780,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 1,"[fevr, autosomal dominant, Exudative vitreoretinopathy, familial, autosomal dominant, criswick-schepens syndrome]","Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {22:Poulter et al., 2010}).\n\nIn 31 Chinese pedigrees clinically diagnosed with FEVR, {25:Rao et al. (2017)} analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene ({148760}) was identified in a patient who also exhibited microcephaly (MCLMR; {152950}). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered.\n\n<Subhead> Genetic Heterogeneity of Familial Exudative Vitreoretinopathy\n\nAlso see EVR2 ({305390}), caused by mutation in the NDP gene ({300658}) on chromosome Xp11; EVR3 ({605750}), mapped to 11p13-p12; EVR4 ({601813}), caused by mutations in the LRP5 gene ({603506}) on 11q13.4; EVR5 ({613310}), caused by mutation in the TSPAN12 gene ({613138}) on 7q31; EVR6 ({616468}), caused by mutation in the ZNF408 gene ({616454}) on 11p11; and EVR7 ({617572}), caused by mutation in the CTNNB1 gene ({116806}) on chromosome 3p22.",[133780],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15069,Active,Orphanet+OMIM,OMIM:134610,Subtype of disorder,[Disease subtype],"Familial mediterranean fever, autosomal dominant","[Fmf, autosomal dominant]",,[134610],[342],[Familial Mediterranean fever],[6421],,,,, +GARD:1507,Legacy,GARD,,,,,,,,,,,,Congenital unilateral pulmonary hypoplasia,TRUE,FALSE,Active +GARD:15070,Active,Orphanet+OMIM,OMIM:135290,Subtype of disorder,[Disease subtype],"Desmoid disease, hereditary","[Fibromatosis, familial infiltrative]","Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; {175100}), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically ({1:Couture et al., 2000}).",[135290],[873],[Desmoid tumor],[1820],,,,, +GARD:15071,Active,Orphanet+OMIM,OMIM:135500,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 1,"[Laband syndrome, fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly]","Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by {3:Balasubramanian and Parker, 2010}).\n\n<Subhead> Genetic Heterogeneity of Zimmermann-Laband Syndrome\n\nZLS2 ({616455}) is caused by mutation in the ATP6V1B2 gene ({606939}) on chromosome 8p21. ZLS3 ({618658}) is caused by mutation in the KCNN3 gene ({602983}) on chromosome 1q21.",[135500],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:15072,Active,Orphanet+OMIM,OMIM:135900,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 1,"[mental retardation, autosomal dominant 12, fifth digit syndrome, hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features, Coffin-siris syndrome]","Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by {40:Vergano and Deardorff, 2014}). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome ({43:Wieczorek et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Coffin-Siris Syndrome\n\nForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 ({614607}), caused by mutation in the ARID1A gene ({603024}); CSS3 ({614608}), caused by mutation in the SMARCB1 gene ({601607}); CSS4 ({614609}), caused by mutation in the SMARCA4 gene ({603254}); CSS5 ({616938}), caused by mutation in the SMARCE1 gene ({603111}); CSS6 ({617808}), caused by mutation in the ARID2 gene ({609539}); CSS7 ({618027}), caused by mutation in the DPF2 gene ({601671}); CSS8 ({618362}), caused by mutation in the SMARCC2 gene ({601734}); CSS9 ({615866}), caused by mutation in the SOX11 gene ({600898}); CSS10 ({618506}), caused by mutation in the SOX4 gene ({184430}); CSS11 ({618779}), caused by mutation in the SMARCD1 gene ({601735}); and CSS12 ({619325}), caused by mutation in the BICRA gene ({605690}).\n\nA similar phenotype, Nicolaides-Baraitser syndrome (NCBRS; {601358}), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 ({600014}).",[135900],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15076,Active,Orphanet+OMIM,OMIM:142623,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 1","[aganglionic megacolon, megacolon, aganglionic, Hirschsprung disease]","The disorder described by {27:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid ({1:Amiel et al., 2008}). Total colonic aganglionosis and total intestinal HSCR also occur.\n\n<Subhead> Genetic Heterogeneity of Hirschsprung Disease\n\nSeveral additional loci for isolated Hirschsprung disease have been mapped. HSCR2 ({600155}) is associated with variation in the EDNRB gene ({131244}) on 13q22; HSCR3 ({613711}) is associated with variation in the GDNF gene ({600837}) on 5p13; HSCR4 ({613712}) is associated with variation in the EDN3 gene ({131242}) on 20q13; HSCR5 ({600156}) maps to 9q31; HSCR6 ({606874}) maps to 3p21; HSCR7 ({606875}) maps to 19q12; HSCR8 ({608462}) maps to 16q23; and HSCR9 ({611644}) maps to 4q31-q32.\n\nHSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome ({277580}), Mowat-Wilson syndrome ({235730}), Goldberg-Shprintzen syndrome ({609460}), and congenital central hypoventilation syndrome (CCHS; {209880}).\n\nWhereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by {1:Amiel et al., 2008}).",[142623],[388],[Hirschsprung disease],[6660],,,,, +GARD:15077,Active,Orphanet+OMIM,OMIM:144250,Subtype of disorder,[Etiological subtype],"Hyperlipidemia, familial combined, 3",[Familial combined hyperlipidemia],"Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; {107730}). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by {5:Bello-Chavolla et al., 2018}).\n\n{15:Goldstein et al. (1973)} gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia ({143890}) and from familial hypertriglyceridemia ({145750}) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia\n\nAlso see FCHL1 ({602491}), associated with variation in the USF1 gene ({191523}) on chromosome 1q23, and FCHL2 ({604499}), mapped to chromosome 11.",[144250],[309015],[Familial lipoprotein lipase deficiency],[12241],,,,, +GARD:15078,Active,Orphanet+OMIM,OMIM:146550,Subtype of disorder,[Disease subtype],Hypotrichosis 4,"[Marie unna hereditary hypotrichosis 1, hypotrichosis, marie unna type, 1]","Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by {10:Mansur et al., 2010}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.\n\n<Subhead> Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis\n\nSee also MUHH2 (HYPT5; {612841}), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13.",[146550],[444],[Marie Unna hereditary hypotrichosis],[3390],,,,, +GARD:15079,Active,Orphanet+OMIM,OMIM:147480,Subtype of disorder,[Disease subtype],"Cholestasis, intrahepatic, of pregnancy, 1","[Cholestasis, pregnancy-related, 1]","Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by {10:Pasmant et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy\n\nSee also ICP3 ({614972}), caused by mutation in the ABCB4 gene ({171060}).",[147480],[69665],[Intrahepatic cholestasis of pregnancy],[9804],,,,, +GARD:1508,Legacy,GARD,,,,,,,,,,,,Congenital vagal hyperreflexivity,TRUE,FALSE,Active +GARD:15080,Active,Orphanet+OMIM,OMIM:148000,Subtype of disorder,[Disease subtype],"Kaposi sarcoma, susceptibility to","[Multiple idiopathic pigmented hemangiosarcoma, susceptibility to]","Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see {609423}). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by {8:Foster et al., 2000}).\n\n{19:Suthaus et al. (2012)} noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).",[148000],[33276],[Kaposi sarcoma],[6814],,,,, +GARD:15081,Active,Orphanet+OMIM,OMIM:148600,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, punctate type ia","[keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, kppp1, Palmoplantar keratoderma, punctate type i, keratosis palmoplantaris papulosa]","Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by {2:Giehl et al., 2012}).\n\nAnother form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; {614936}).\n\nOther forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; {175860}) and focal acrohyperkeratosis (PPKP3; {101850}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).",[148600],[79501],[Punctate palmoplantar keratoderma type 1],[3103],,,,, +GARD:15082,Active,Orphanet+OMIM,OMIM:153670,Subtype of disorder,[Disease subtype],"Bernard-soulier syndrome, type a2, autosomal dominant",,,[153670],[274],[Bernard-Soulier syndrome],[2470],,,,, +GARD:15083,Active,Orphanet+OMIM,OMIM:154230,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 4",,,[154230],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15086,Active,Orphanet+OMIM,OMIM:157600,Subtype of disorder,[Disease subtype],Mirror movements 1,"[mirror movements, congenital, bimanual synergia, Mirror movements 1 and/or agenesis of the corpus callosum]","Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by {10:Sharafaddinzadeh et al., 2008} and {12:Srour et al., 2010}). Some patients with DCC mutations have agenesis of the corpus callosum ({6:Marsh et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Mirror Movements\n\nSee also MRMV2 ({614508}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; MRMV3 ({606059}), caused by mutation in the DNAL4 gene ({610565}) on chromosome 22q13; and MRMV4 ({618264}), caused by mutation in the NTN1 gene ({601614}) on chromosome 17p13.",[157600],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:15087,Active,Orphanet+OMIM,OMIM:158900,Subtype of disorder,[Disease subtype],Facioscapulohumeral muscular dystrophy 1,,"Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotpye. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; {310200}) and myotonic ({160900}) dystrophy ({81:Tawil et al., 1998}; {94:van den Boogaard et al., 2016}; {30:Johnson and Ankala, 2020}; {72:Schatzl et al., 2021}).\n\n{65:Richards et al. (2012)} and {72:Schatzl et al. (2021)} provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues.\n\n<Subhead> Genetic Heterogeneity of FSHD\n\nSeveral other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by {25:Hamanaka et al., 2020}; {30:Johnson and Ankala, 2020}; review by {72:Schatzl et al., 2021}).\n\nFSHD2 ({158901}) is caused by mutation in the SMCHD1 gene ({614982}) on chromosome 18p11; FSHD3 ({619477}) by mutation in the LRIF1 gene ({615354}) on chromosome 1p13; and FSHD4 ({619478}) by mutation in the DMNT3B gene ({602900}) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 ({606009}) expression. There is significant clinical variability and incomplete penetrance.",[158900],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15088,Active,Orphanet+OMIM,OMIM:158901,Subtype of disorder,[Disease subtype],"Facioscapulohumeral muscular dystrophy 2, digenic","[muscular dystrophy, facioscapulohumeral, type 2, muscular dystrophy, facioscapulohumeral, type 1b, Fshd2, digenic]","Facioscapulohumeral muscular dystrophy-2 (FSHD2) is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by {3:Lemmers et al., 2012}).\n\nFor a discussion of genetic heterogeneity of FSHD, see FSHD1 ({158900}), which is associated with physical contraction of D4Z4 macrosatellite repeats (see {606009}) in the subtelomeric region of chromosome 4q35. The pathogenesis of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and inappropriate expression of DUX4 in skeletal muscle (summary by {3:Lemmers et al., 2012}).",[158901],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15089,Active,Orphanet+OMIM,OMIM:159050,Subtype of disorder,[Disease subtype],"Muscular dystrophy, pseudohypertrophic, with internalized capillaries",,"{1:Hastings et al. (1980)} described 2 unrelated families, each with father and son with pseudohypertrophic muscular dystrophy. The paternal grandfather in 1 family may have been affected also. The phenotype resembled that of Becker muscular dystrophy ({300376}). The mothers showed no evidence of carrier status, but both fathers had pseudohypertrophic calves and one gave a history of weakness in childhood with subsequent improvement. Muscle histology in all 4 showed changes like those of Becker muscular dystrophy with, in addition, central cores and internalized capillaries in type I fibers. The internalized capillaries were considered unique to this disorder.",[159050],[98895],[Becker muscular dystrophy],[5900],,,,, +GARD:1509,Legacy,GARD,,,,,,,,,,,,Connective tissue dysplasia Spellacy type,TRUE,FALSE,Retired +GARD:15090,Active,Orphanet+OMIM,OMIM:160980,Subtype of disorder,[Disease subtype],"Carney complex, type 1","[carney syndrome, Carney myxoma-endocrine complex, lamb syndrome, myxoma, spotty pigmentation, and endocrine overactivity, name syndrome]","Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS; {174800}), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; {175200}). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas ({17:Kirschner et al., 2000}; {34:Stratakis et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Carney Complex\n\nCarney complex type 2 (CNC2; {605244}) has been mapped to chromosome 2p16, indicating genetic heterogeneity.\n\nSee also isolated primary pigmented nodular adrenocortical disease (PPNAD1; {610489}) and isolated cardiac myxoma ({255960}), both of which are manifestations of the Carney complex that can be seen in isolation.\n\nA family with features of the Carney complex and distal arthrogryposis ({608837}) associated with a mutation in the MYH8 gene ({160741}) has also been reported.",[160980],[1359],[Carney complex],[1119],,,,, +GARD:15091,Active,Orphanet+OMIM,OMIM:161400,Subtype of disorder,[Disease subtype],Narcolepsy 1,[Narcoleptic syndrome 1],"{1:Adie (1926)} first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal.\n\nIn contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype ({37:Peyron et al., 2000}). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) ({31:Mignot, 1998}).\n\n<Subhead> Genetic Heterogeneity of Narcolepsy\n\nAdditional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; {605841}), 21q (NRCLP3; {609039}), 22q13 (NRCLP4; {612417}), 14q11 (NRCLP5; {612851}), and 19p13.2 (NRCLP6; {614223}). NRCLP7 ({614250}) is caused by mutation in the MOG gene ({159465}) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene ({610259}) on chromosome 21q22.",[161400],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15092,Active,Orphanet+OMIM,OMIM:161550,Subtype of disorder,[Disease subtype],"Nasopharyngeal carcinoma, susceptibility to, 2",,"Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by {6:Tse et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107}).",[161550],[150],[Nasopharyngeal carcinoma],[7163],,,,, +GARD:15093,Active,Orphanet+OMIM,OMIM:613956,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 6","[Candidiasis, familial chronic mucocutaneous, autosomal dominant]",,[613956],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15094,Active,Orphanet+OMIM,OMIM:162260,Subtype of disorder,[Disease subtype],"Neurofibromatosis, type iii, mixed central and peripheral","[nf iii, Neurofibromatosis, type iii, of riccardi, Neurofibromas, palmar cutaneous, included, neurofibromatosis, type iii, riccardi type]",,[162260],[93921],[Schwannomatosis],[4768],,,,, +GARD:15095,Active,Orphanet+OMIM,OMIM:162400,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type ia","[neuropathy, hereditary sensory radicular, autosomal dominant, type 1a, neuropathy, hereditary sensory, type ia, hsn ia, hsan1, Hsan ia]","Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic (summary by {31:Rotthier et al., 2010} and {18:Gantner et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({16:Fridman et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Sensory and Autonomic Neuropathy\n\nSee also HSAN1C ({613640}), caused by mutation in the SPTLC2 gene ({605713}) on 14q24; HSN1D ({613708}), caused by mutation in the ATL1 gene ({606439}) on 14q22; HSN1E ({614116}), caused by mutation in the DNMT1 gene ({126375}) on 19p13; HSN1F ({615632}), caused by mutation in the ATL3 gene ({609369}) on 11q13; HSAN2A ({201300}), caused by mutation in the HSN2 isoform of the WNK1 gene ({605232}) on 12p13; HSAN2B ({613115}), caused by mutation in the FAM134B gene ({613114}) on 5p15; HSN2C ({614213}), caused by mutation in the KIF1A gene ({601255}) on 2q37; HSAN2D (see {243000}), caused by mutation in the SCN9A gene ({603415}) on 2q24; HSAN3 ({223900}), caused by mutation in the ELP1 gene ({603722}) on 9q31; HSAN4 ({256800}), caused by mutation in the NTRK1 gene ({191315}) on 1q23; HSAN5 ({608654}), caused by mutation in the NGF gene ({162030}) on 1p13; HSAN6 ({614653}), caused by mutation in the DST gene ({113810}) on 6p12; HSAN7 ({615548}), caused by mutation in the SCN11A gene ({604385}) on 3p22; and HSAN8 ({616488}), caused by mutation in the PRDM12 gene ({616458}) on chromosome 9q34.\n\nAdult-onset HSAN with anosmia ({608720}) may be another distinct form of HSAN, and HSAN1B ({608088}) with cough and gastroesophageal reflux maps to chromosome 3p24-p22.",[162400],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15096,Active,Orphanet+OMIM,OMIM:163500,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 2","[Night blindness, congenital stationary, rambusch type]",,[163500],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15097,Active,Orphanet+OMIM,OMIM:164310,Subtype of disorder,[Disease subtype],Oculopharyngodistal myopathy 1,"[Oculopharyngodistal myopathy, faciooculolaryngopharyngeal myopathy with distal and respiratory involvement]","Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by {2:Ishiura et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Oculopharyngodistal Myopathy\n\nSee also OPDM2 ({618940}), caused by trinucleotide repeat expansion in the GIPC1 gene ({605072}) on chromosome 19p13, and OPDM3 ({619473}), caused by trinucleotide repeat expansion in the NOTCH2NLC gene ({618025}) on chromosome 1q21.\n\nOculopharyngeal muscular dystrophy (OPMD; {164300}) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene ({602279}) (summary by {1:Durmus et al., 2011}).",[164310],[98897],[Oculopharyngodistal myopathy],[12592],,,,, +GARD:15098,Active,Orphanet+OMIM,OMIM:165200,Subtype of disorder,[Disease subtype],Optic atrophy with demyelinating disease of cns,,"{1:Lees et al. (1964)} described a kindred in 5 generations of which 12 males and 3 females were affected with optic neuritis accompanied in some by neurologic manifestations resembling disseminated sclerosis. One had ataxia, right leg weakness and dysarthria. Another developed left hemiparesis during a 2-week period and then recovered partially. {2:Went (1974)} expressed the opinion that this kindred is an example of Leber optic atrophy ({535000}) and not a separate entity.",[165200],[99718],[Leber plus disease],[8476],,,,, +GARD:15099,Active,Orphanet+OMIM,OMIM:165500,Subtype of disorder,[Disease subtype],Optic atrophy 1,"[Optic atrophy, juvenile, optic atrophy, kjer type, kjer-type optic atrophy]","Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ({37:Votruba et al., 1998}).\n\nSome patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes ({42:Yu-Wai-Man et al., 2010}).\n\n{43:Yu-Wai-Man et al. (2009)} provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; {535000}), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.\n\n<Subhead> Genetic Heterogeneity of Optic Atrophy\n\nAlso see optic atrophy-2 (OPA2; {311050}), mapped to chromosome Xp11.4-p11.21; OPA3 ({165300}), caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13; OPA4 ({605293}), mapped to chromosome 18q12.2-q12.3; OPA5 ({610708}), caused by mutation in the DNM1L gene ({603850}) on chromosome 12p11; OPA6 ({258500}), mapped to chromosome 8q21-q22; OPA7 ({612989}), caused by mutation in the TMEM126A gene ({612988}) on chromosome 11q14; OPA8 ({616648}), mapped to chromosome 16q21-q22; OPA9 ({616289}), caused by mutation in the ACO2 gene ({100850}) on chromosome 22q13; OPA10 ({616732}), caused by mutation in the RTN4IP1 gene ({610502}) on chromosome 6q21; OPA11 ({617302}), caused by mutation in the YME1L1 gene ({607472}) on chromosome 10p12; OPA12 ({618977}), caused by mutation in the AFG3L2 gene ({604581}) on chromosome 18p11; and OPA13 ({165510}), caused by mutation in the SSBP1 gene ({600439}) on chromosome 7q34.",[165500],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:151,Legacy,GARD,,,,,,,,,,,,Samson Gardner syndrome,TRUE,FALSE,Active +GARD:15100,Active,Orphanet+OMIM,OMIM:166230,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures",,"{1:Beighton (1981)} reported a kindred in which 20 members in at least 3 generations had opalescent teeth, blue sclerae, wormian bones, and normal height. In the 6 affected individuals who had skeletal surveys, moderate generalized osteoporosis was noted; the older individuals had mild flattening and biconcavity of the vertebral bodies. Only 1 affected individual, an adolescent male, had pronounced platybasia and had sustained 10 femoral fractures on mild trauma. Only the proband had hearing loss. No individuals had joint hyperextensibility. It is not known whether the syndrome is the same as OI type I ({166200}).",[166230],[216796],[Osteogenesis imperfecta type 1],[8694],,,,, +GARD:15101,Active,Orphanet+OMIM,OMIM:167100,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal dominant","[Pho, autosomal dominant, pdp, autosomal dominant, pachydermoperiostosis, autosomal dominant]","Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females ({4:Lee et al., 2016}; {8:Xu et al., 2021}).\n\n{7:Touraine et al. (1935)} recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nAutosomal recessive forms of PHO have been reported (see {259100}), including PHOAR2 ({614441}), which is also caused by mutation in the SLCO2A1 gene.",[167100],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15102,Active,Orphanet+OMIM,OMIM:167200,Subtype of disorder,[Disease subtype],Pachyonychia congenita 1,"[Pachyonychia congenita, jadassohn-lewandowsky type, formerly, jadassohn-lewandowsky syndrome, formerly]","Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {29:Sybert, 2010}; {6:Eliason et al., 2012}; {18:McLean et al., 2011}).\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{9:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{25:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {30:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.\n\n<Subhead> Genetic Heterogeneity of Pachyonychia Congenita\n\nSee pachyonychia congenita-2 (PC2; {167210}), caused by mutation in the KRT17 gene ({148069}) on chromosome 17; PC3 ({615726}), caused by mutation in the KRT6A gene ({148041}) on chromosome 2; and PC4 ({615728}), caused by mutation or in the KRT6B gene ({148042}) on chromosome 12.\n\nSee {260130} for a possible autosomal recessive form of pachyonychia congenita.",[167200],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:15103,Active,Orphanet+OMIM,OMIM:167210,Subtype of disorder,[Disease subtype],Pachyonychia congenita 2,"[Pachyonychia congenita, jackson-lawler type, formerly]","Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {2:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{4:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{11:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[167210],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:15104,Active,Orphanet+OMIM,OMIM:167755,Subtype of disorder,[Morphological anomaly subtype],"Pancreas, dorsal, agenesis of",,"Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas ({1:Wildling et al., 1993}).",[167755],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:15105,Active,Orphanet+OMIM,OMIM:171300,Subtype of disorder,[Disease subtype],Pheochromocytoma,"[Pheochromocytoma, susceptibility to]","Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary ({29:Maher and Eng, 2002}; {13:Dluhy, 2002}).\n\n{3:Bolande (1974)} introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.\n\n{28:Knudson and Strong (1972)} applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.\n\n{29:Maher and Eng (2002)} reviewed the clinical entities and genes associated with pheochromocytoma.",[171300],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:15106,Active,Orphanet+OMIM,OMIM:175510,Subtype of disorder,[Disease subtype],Gist-plus syndrome,"[Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly]","GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by {8:Manley et al., 2018}).",[175510],[44890],[Gastrointestinal stromal tumor],[8598],,,,, +GARD:15107,Active,Orphanet+OMIM,OMIM:175780,Subtype of disorder,[Etiological subtype],Brain small vessel disease 1 with or without ocular anomalies,"[Hemiplegia, infantile, with porencephaly, leukoencephalopathy with axenfeld-rieger anomaly, porencephaly, type 1, autosomal dominant, formerly, porencephaly 1, formerly, porencephaly, type 1, formerly, brain small vessel disease with hemorrhage, brain small vessel disease with axenfeld-rieger anomaly, retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant]","Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The increased fragility of these vessels render them susceptible to hemorrhage, as early as in utero or by birth trauma, although the risk remains throughout life and some patients may present in adulthood. This genetic predisposition may extend beyond hemorrhagic stroke to include retinal and renal vascular defects. Clinical features thus reflect the location and severity of the vascular defect, including impaired neurologic development or function, hemiplegia, seizures, and variable ocular anomalies. The disturbed vasculature leads to cerebral degeneration, and brain imaging typically shows 'porencephaly,' hemosiderin deposition, calcifications, lacunar infarcts, enlarged ventricles, and leukoencephalopathy. Some patients may show 'schizencephaly' on brain imaging, which is also attributed to encephaloclastic processes, such as vascular injury. The disorder shows variable penetrance and expressivity (summary by {16:Merello et al., 2008}, {9:Gould et al., 2006}; {21:Shah et al., 2012}; {27:van der Knaap et al., 2006}; {29:Yoneda et al., 2013}).\n\n'Porencephaly' is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called 'schizencephalic', or type 2, porencephaly, is usually symmetric and may represent a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common ({2:Airaksinen, 1984}; {20:Sensi et al., 1990}).\n\n<Subhead> Genetic Heterogeneity of Brain Small Vessel Disease\n\nSee also BSVD2 ({614483}), caused by mutation in the COL4A2 gene ({120090}) on chromosome 13q34; and BSVD3 ({618360}), caused by mutation in the COLGALT1 gene ({617531}) on chromosome 19p13.",[175780],[99810],[Familial porencephaly],[2258],,,,, +GARD:15108,Active,Orphanet+OMIM,OMIM:175800,Subtype of disorder,[Disease subtype],"Porokeratosis 1, multiple types",[Porokeratosis of mibelli],"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({10:Schamroth et al., 1997}). However, as noted by {11:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.'\n\n<Subhead> Genetic Heterogeneity of Porokeratosis\n\nAlso see porokeratosis-2 (POROK2; {175850}), mapped to chromosome 12q24; POROK3 ({175900}), caused by mutation in the MVK gene ({251170}) on chromosome 12q24; POROK4 ({607728}), mapped to chromosome 15q25-q26; POROK5 ({612293}), mapped to chromosome 1p31; POROK6 ({612353}), mapped to chromosome 1p31; POROK7 ({614714}), caused by mutation in the MVD gene ({603236}) on chromosome 16q24; POROK8 ({616063}), caused by mutation in the SLC17A9 gene ({612107}) on chromosome 20q13; and POROK9 ({616631}), caused by mutation in the FDPS gene ({134629}) on chromosome 1q22.\n\nA palmoplantar form of punctate porokeratosis has also been described (PPKP2; {175860}).\n\n<Subhead> Genotype/Phenotype Correlations\n\n{14:Zhang et al. (2015)} screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less.",[175800],[735],[Porokeratosis of Mibelli],[4438],,,,, +GARD:15109,Active,Orphanet+OMIM,OMIM:179900,Subtype of disorder,[Disease subtype],Retinal aplasia,[Amaurosis congenita],"{2:Sorsby and Williams (1960)} observed a family with multiple cases of retinal aplasia in which inheritance was autosomal dominant. 'Retinal aplasia' is the British term for what is called 'congenital amaurosis' on the continent. Much genetic heterogeneity exists as evidenced by the demonstration of both autosomal dominant and autosomal recessive forms. This disorder, which might be called an autosomal dominant form of Leber amaurosis congenita, must be very rare. {1:Heckenlively (1988)} reported a 6-generation family with a severe progressive retinal degeneration beginning in infancy.",[179900],[65],[Leber congenital amaurosis],[634],,,,, +GARD:15110,Active,Orphanet+OMIM,OMIM:180105,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 10,,"Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses ({5:Jordan et al., 1993}; {1:Bowne et al., 2002}; {2:Bowne et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[180105],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15111,Active,Orphanet+OMIM,OMIM:180210,Subtype of disorder,[Disease subtype],"Retinopathy, pericentral pigmentary, dominant",,"{1:Grondahl (1987)} diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by {2:Traboulsi et al. (1988)}; see {268060}.",[180210],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15112,Active,Orphanet+OMIM,OMIM:181460,Subtype of disorder,[Disease subtype],"Schistosoma mansoni infection, susceptibility/resistance to",,,[181460],[1247],[Schistosomiasis],[9687],,,,, +GARD:15113,Active,Orphanet+OMIM,OMIM:182950,Subtype of disorder,[Disease subtype],Spinal arachnoiditis,,,[182950],[137817],[Arachnoiditis],[5839],,,,, +GARD:15114,Active,Orphanet+OMIM,OMIM:184100,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, autosomal dominant",,,[184100],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,,,, +GARD:15115,Active,Orphanet+OMIM,OMIM:186500,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 1,"[symphalangism-brachydactyly syndrome, deafness-symphalangism syndrome of herrmann, Synostoses, multiple, with brachydactyly, wl syndrome, facioaudiosymphalangism syndrome]","Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by {16:Takahashi et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Multiple Synostoses Syndrome\n\nOther forms of multiple synostoses syndrome include SYNS2 ({610017}), caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11; SYNS3 ({612961}), caused by mutation in the FGF9 gene ({600921}) on chromosome 13q12; and SYNS4 ({617898}), caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22.",[186500],[3237],[Multiple synostoses syndrome],[3836],,,,, +GARD:15116,Active,Orphanet+OMIM,OMIM:187760,Subtype of disorder,[Malformation syndrome subtype],Thoracolaryngopelvic dysplasia,[Barnes syndrome],,[187760],[3317],[Thoracolaryngopelvic dysplasia],[5184],,,,, +GARD:15117,Active,Orphanet+OMIM,OMIM:187900,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 17","[Thrombasthenia-thrombocytopenia, hereditary]","Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by {4:Monteferrario et al., 2014}).",[187900],[721],[Gray platelet syndrome],[2562],,,,, +GARD:15118,Active,Orphanet+OMIM,OMIM:188400,Subtype of disorder,[Malformation syndrome subtype],Digeorge syndrome,"[hypoplasia of thymus and parathyroids, Chromosome 22q11.2 deletion syndrome, third and fourth pharyngeal pouch syndrome]","DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; {192430}); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.",[188400],[567],[22q11.2 deletion syndrome],[10299],,,,, +GARD:15119,Active,Orphanet+OMIM,OMIM:188580,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 1",,"Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; {170400}), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by {9:Kung, 2006}).\n\n<Subhead> Genetic Heterogeneity of Thyrotoxic Periodic Paralysis\n\nSee also TTPP2 ({613239}), conferred by variation in the KCNJ18 gene ({613236}) on chromosome 17p11, and TTPP3 ({614834}), mapped to chromosome 17q24.",[188580],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:1512,Active,Orphanet,ORPHA:972,Disorder,[Disease],Hereditary continuous muscle fiber activity,,"Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.",[160120],,,,,Hereditary continuous muscle fiber activity,TRUE,FALSE,Active +GARD:15120,Active,Orphanet+OMIM,OMIM:188700,Subtype of disorder,[Malformation syndrome subtype],"Blount disease, infantile","[tibia vara, infantile, Osteochondrosis deformans tibiae, infantile]","Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {7:Sabharwal, 2009}).",[188700],[2768],[Blount disease],[916],,,,, +GARD:15121,Active,Orphanet+OMIM,OMIM:191100,Subtype of disorder,[Disease subtype],Tuberous sclerosis 1,"[Tuberous sclerosis complex, tuberose sclerosis]","Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by {19:Crino et al., 2006} and {20:Curatolo et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Tuberous Sclerosis\n\nSee also tuberous sclerosis-2 ({613254}), which is caused by mutation in the TSC2 gene ({191092}) on chromosome 16p13.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease ({19:Crino et al., 2006}) (see GENOTYPE/PHENOTYPE CORRELATIONS section).",[191100],[805],[Tuberous sclerosis complex],[7830],,,,, +GARD:15122,Active,Orphanet+OMIM,OMIM:191480,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 1,"[pili trianguli et canaliculi, Uncombable hair syndrome]","Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {14:U. Basmanav et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Uncombable Hair Syndrome\n\nSee UHS2 ({617251}), caused by mutation in the TGM3 gene ({600238}) on chromosome 20p12, and UHS3 ({617252}), caused by mutation in the TCHH gene ({190370}) on chromosome 1q21.",[191480],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:15123,Active,Orphanet+OMIM,OMIM:192430,Subtype of disorder,[Malformation syndrome subtype],Velocardiofacial syndrome,"[Chromosome 22q11.2 deletion syndrome, vcf syndrome, shprintzen vcf syndrome]",,[192430],[567],[22q11.2 deletion syndrome],[10299],,,,, +GARD:15124,Active,Orphanet+OMIM,OMIM:194070,Subtype of disorder,[Disease subtype],Wilms tumor 1,[Nephroblastoma],"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumors are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by {90:Slade et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Wilms Tumor\n\nSusceptibility to Wilms tumor is genetically heterogeneous. WT2 ({194071}) is caused by mutation in the H19/IGF2-imprinting control region (ICR1; {616186}) on chromosome 11p15. WT3 ({194090}) represents a locus mapped to chromosome 16q. WT4 ({601363}) represents a locus mapped to chromosome 17q12-q21. WT5 ({601583}) is caused by mutation in the POU6F2 gene ({609062}) on chromosome 7p14. WT6 ({616806}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12.\n\nMutations in the BRCA2 gene ({600185}) have also been reported in Wilms tumor. Rare somatic and constitutional disruption of the HACE1 gene ({610876}) has also been reported in Wilms tumor.\n\nSomatic mutations in the glypican-3 gene (GPC3; {300037}) have been described in Wilms tumor. Somatic mutations in the WTX gene ({300647}) on the single X allele in tumors from males and on the active X allele in tumors from females have also been described.",[194070],[654],[Nephroblastoma],[7892],,,,, +GARD:15125,Active,Orphanet+OMIM,OMIM:194090,Subtype of disorder,[Disease subtype],Wilms tumor 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[194090],[654],[Nephroblastoma],[7892],,,,, +GARD:15126,Active,Orphanet+OMIM,OMIM:194380,Subtype of disorder,[Disease subtype],Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,"[xerocytosis, hereditary, Dehydrated hereditary stomatocytosis, pseudohyperkalemia, familial, 1, due to red cell leak, desiccytosis, hereditary, pseudohyperkalemia edinburgh]","Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by {42:Zarychanski et al., 2012}). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by {1:Albuisson et al., 2013}).\n\nDehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria ({38:Tiffert et al., 2005}). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).\n\nThe 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by {17:Iolascon et al., 1999}).\n\n{7:Carella et al. (2004)} noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. {12:Gore et al. (2004)} stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree.\n\n<Subhead> Genetic Heterogeneity of Hereditary Stomatocytosis\n\nDehydrated hereditary stomatocytosis-2 (DHS2; {616689}) is caused by mutation in the KCNN4 gene ({602754}) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2; {609153}), is caused by mutation in the ABCB6 gene ({605452}) on chromosome 2q35. Cryohydrocytosis (CHC; {185020}) is caused by mutation in the SLC4A1 gene ({109270}) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; {608885}) is caused by mutation in the SLC2A1 gene ({138140}) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST; {185000}) is caused by mutation in the RHAG gene ({180297}) on chromosome 6p12.\n\nSee {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome.\n\n<Subhead> Reviews\n\n{9:Delaunay (2004)} reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.\n\n{6:Bruce (2009)} provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. {6:Bruce (2009)} suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.\n\n{20:King and Zanella (2013)} provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis ({266140}); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. {19:King et al. (2015)} reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.",[194380],[3202],[Dehydrated hereditary stomatocytosis],[5623],,,,, +GARD:15127,Active,Orphanet+OMIM,OMIM:200100,Subtype of disorder,[Disease subtype],Abetalipoproteinemia,"[Acanthocytosis, mtp deficiency, bassen-kornzweig syndrome, microsomal triglyceride transfer protein deficiency]","Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; {615558}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by {20:Lee and Hegele, 2014}).",[200100],[14],[Abetalipoproteinemia],[5],,,,, +GARD:15128,Active,Orphanet+OMIM,OMIM:201000,Subtype of disorder,[Malformation syndrome subtype],Carpenter syndrome 1,"[Carpenter syndrome, acrocephalopolysyndactyly type ii, acps ii]","Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by {2:Altunhan et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Carpenter Syndrome\n\nCarpenter syndrome-2 (CRPT2; {614976}), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene ({604267}).",[201000],[65759],[Carpenter syndrome],[6003],,,,, +GARD:15129,Active,Orphanet+OMIM,OMIM:201300,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type iia","[acroosteolysis, giaccai type, neuropathy, hereditary sensory radicular, autosomal recessive, morvan disease, neuropathy, hereditary sensory, type iia, neuropathy, congenital sensory, acroosteolysis, neurogenic, hsn iia, Hsan iia, neuropathy, progressive sensory, of children]",,[201300],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:1513,Active,Orphanet,ORPHA:725,Disorder,[Disease],Continuous spikes and waves during sleep,"[CSWS, CSWSS syndrome, Continuous spikes and waves during slow-wave sleep, Epileptic encephalopathy with continuous spike-and-wave during slow sleep]","Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.",[245570],,,,,Continuous spike-wave during slow sleep syndrome,TRUE,FALSE,Active +GARD:15130,Active,Orphanet+OMIM,OMIM:201310,Subtype of disorder,[Malformation syndrome subtype],"Acrorenal syndrome, autosomal recessive",,"{3:Miltenyi et al. (1992)} described a brother and sister with tetraectrodactyly and oligomeganephronic renal hypoplasia. {2:Miltenyi et al. (1984)} described a brother who died at the age of 27 months of renal insufficiency. Five years later the mother gave birth to a girl with the same disorder. The girl required chronic peritoneal dialysis after the age of 4 years. Her feet showed typical lobster claw deformity. On both hands, only the fourth and fifth fingers were present with clinodactyly of the latter one. {1:Akl (1994)} described a 4-year-old boy who had chronic renal failure secondary to focal segmental glomerular sclerosis as well as abnormalities of the right hand. The parents were first cousins. A female sib, 1 year of age, and a 1-year-old male first cousin had chronic renal failure; neither had hand abnormalities. The fathers, who were brothers, married their first cousins, who were sisters.",[201310],[971],[Acrorenal syndrome],[514],,,,, +GARD:15131,Active,Orphanet+OMIM,OMIM:202155,Subtype of disorder,[Disease subtype],"Adrenal hypoplasia, cytomegalic type",,"Congenital hypoplasia of the adrenal glands occurs as an X-linked disorder ({300200}) and as an autosomal recessive disorder ({240200}). The histologic findings are different in the two: the X-linked form is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the autosomal recessive form, there is absence or near absence of both fetal and permanent cortex, resulting in what is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. {1:Kruger et al. (1993)} presented the case of a female small-for-dates infant who died at age 7 weeks and was found to have cytomegalic congenital adrenal hypoplasia. The second child of the same parents was also a girl with adrenocortical insufficiency; at the age of 1 year, her adrenal glands could not be identified by computed tomography.",[202155],[95702],[X-linked adrenal hypoplasia congenita],[555],,,,, +GARD:15132,Active,Orphanet+OMIM,OMIM:202300,Subtype of disorder,[Disease subtype],"Adrenocortical carcinoma, hereditary",,"Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome ({130650}) and is a component tumor in Li-Fraumeni syndrome (LFS; {151623}).",[202300],[1501],[Adrenocortical carcinoma],[558],,,,, +GARD:15133,Active,Orphanet+OMIM,OMIM:202355,Subtype of disorder,[Disease subtype],Adrenocortical unresponsiveness to acth with postreceptor defect,[Familial glucocorticoid deficiency due to defect distal to acth receptor],"{2:Yamaoka et al. (1992)} described a 26-year-old Japanese male and his 29-year-old male cousin referred for hyperpigmentation and found to have unresponsiveness to ACTH, which they suggested might be due to a pathogenic defect occurring after cAMP generation. Although the patients showed increased plasma ACTH, decreased plasma cortisol and dehydroepiandrosterone, and no steroidogenic response to exogenous ACTH, they responded normally to both furosemide administration and to a low sodium diet by showing increases in plasma aldosterone. ACTH receptors in peripheral blood mononuclear leukocytes were normal in contrast to the deficiency reported by {1:Smith et al. (1987)} in a patient with the usual form of hereditary adrenocortical unresponsiveness to ACTH ({202200}). ACTH receptors in monocytes from these patients were similar to those from a normal control subject in both number and affinity.",[202355],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15134,Active,Orphanet+OMIM,OMIM:202370,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 2b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {2:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see {214100}.",[202370],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15135,Active,Orphanet+OMIM,OMIM:203655,Subtype of disorder,[Disease subtype],Alopecia universalis congenita,"[Atrichia, generalized]","Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair ({7:Nothen et al., 1998}).\n\nThis rare disorder is clearly distinct from alopecia areata (AA1; {104000}), which has an autoimmune basis with probable genetic predisposition.",[203655],[701],[Alopecia universalis],[614],,,,, +GARD:15136,Active,Orphanet+OMIM,OMIM:204650,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ic","[amelogenesis imperfecta, hypoplastic, with or without open-bite malocclusion, autosomal recessive, Amelogenesis imperfecta, local hypoplastic type, autosomal recessive]",,[204650],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15137,Active,Orphanet+OMIM,OMIM:205100,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 2, juvenile","[Als, juvenile]",,[205100],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15138,Active,Orphanet+OMIM,OMIM:205250,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis with polyglucosan bodies,,"{2:Orthner et al. (1973)} reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in the cortex and cerebellum. {1:Barz et al. (1976)} reported 2 sporadic cases.",[205250],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15139,Active,Orphanet+OMIM,OMIM:208085,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, renal dysfunction, and cholestasis 1",[Arc syndrome],,[208085],[2697],[Arthrogryposis-renal dysfunction-cholestasis syndrome],[794],,,,, +GARD:15140,Active,Orphanet+OMIM,OMIM:208500,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 1 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {15:Huber and Cormier-Daire, 2012} and {33:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\n<Subhead> Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia\n\nSRTD1 has been mapped to chromosome 15q13. See also SRTD2 ({611263}), caused by mutation in the IFT80 gene ({611177}); SRTD3 ({613091}), caused by mutation in the DYNC2H1 gene ({603297}); SRTD4 ({613819}), caused by mutation in the TTC21B gene ({612014}); SRTD5 ({614376}), caused by mutation in the WDR19 gene ({608151}); SRTD6 ({263520}), caused by mutation in the NEK1 gene ({604588}); SRTD7 ({614091}), caused by mutation in the WDR35 gene ({613602}); SRTD8 ({615503}), caused by mutation in the WDR60 gene ({615462}); SRTD9 ({266920}), caused by mutation in the IFT140 gene ({614620}); SRTD10 ({615630}), caused by mutation in the IFT172 gene ({607386}); SRTD11 ({615633}), caused by mutation in the WDR34 gene ({613363}); SRTD13 ({616300}), caused by mutation in the CEP120 gene ({613446}); SRTD14 ({616546}), caused by mutation in the KIAA0586 gene ({610178}); SRTD15 ({617088}), caused by mutation in the DYNC2LI1 gene ({617083}); SRTD16 ({617102}), caused by mutation in the IFT52 gene ({617094}); SRTD17 ({617405}), caused by mutation in the TCTEX1D2 gene ({617353}); SRTD18 ({617866}), caused by mutation in the IFT43 gene ({614068}); SRTD19 ({617895}), caused by mutation in the IFT81 gene ({605489}); SRTD20 ({617925}), caused by mutation in the INTU gene ({610621}); and SRTD21 ({619479}), caused by mutation in the KIAA0753 gene ({617112}).\n\nSee also SRTD12 (Beemer-Langer syndrome; {269860}).",[208500],[474],[Jeune syndrome],[3049],,,,, +GARD:15141,Active,Orphanet+OMIM,OMIM:208910,Subtype of disorder,[Disease subtype],Ataxia-telangiectasia with generalized skin pigmentation and early death,,"{1:Tsukahara et al. (1986)} described 2 Japanese sisters with ataxia-telangiectasia that had typical clinical and laboratory features except for marked generalized skin pigmentation and unusually early death (at 15 months in the first born). Skin pigmentation was already present at 3 months of age in the first born and appeared at 7 months in the second affected child. Autopsy of the older child provided no obvious explanation for the hyperpigmentation. The anterior pituitary was described as containing 'occasional cells with large hyperchromic, bizarre or doughnut-shaped nuclei.'",[208910],[100],[Ataxia-telangiectasia],[5862],,,,, +GARD:15142,Active,Orphanet+OMIM,OMIM:210400,Subtype of disorder,[Malformation syndrome subtype],"Bifid nose, autosomal recessive","[nose, median cleft of, Median fissure of nose]",,[210400],[2695],[Bifid nose],[884],,,,, +GARD:15143,Active,Orphanet+OMIM,OMIM:210600,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 1,"[bird-headed dwarfism, nanocephalic dwarfism, seckel-type dwarfism, microcephalic primordial dwarfism i, Sckl]","Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance ({19:Shanske et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Seckel Syndrome\n\nOther forms of Seckel syndrome include SCKL2 ({606744}), caused by mutation in the RBBP8 gene ({604124}) on chromosome 18q11; SCKL4 ({613676}), caused by mutation in the CENPJ gene ({609279}) on chromosome 13q12; SCKL5 ({613823}), caused by mutation in the CEP152 gene ({613529}) on chromosome 15q21; SCKL6 ({614728}), caused by mutation in the CEP63 gene ({614724}) on chromosome 3q22; SCKL7 ({614851}), caused by mutation in the NIN gene ({608684}) on chromosome 14q22; SCKL8 ({615807}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q21; SCKL9 ({616777}), caused by mutation in the TRAIP gene ({605958}) on chromosome 3p21; and SCKL10 ({617253}), caused by mutation in the NSMCE2 gene ({617246}) on chromosome 8q24.\n\nThe report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by {10:Kilinc et al. (2003)} was found to be in error; see History section.",[210600],[808],[Seckel syndrome],[8562],,,,, +GARD:15144,Active,Orphanet+OMIM,OMIM:210710,Subtype of disorder,[Malformation syndrome subtype],"Microcephalic osteodysplastic primordial dwarfism, type i","[brachymelic primordial dwarfism, low-birth-weight dwarfism with skeletal dysplasia, taybi-linder syndrome, osteodysplastic primordial dwarfism, type i, cephaloskeletal dysplasia, Mopd i]","Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by {17:Pierce and Morse, 2012}).",[210710],[2636],[Microcephalic osteodysplastic primordial dwarfism types I and III],[5120],,,,, +GARD:15145,Active,Orphanet+OMIM,OMIM:210730,Subtype of disorder,[Malformation syndrome subtype],"Microcephalic osteodysplastic primordial dwarfism, type iii","[mopd, sicilian fairy type, osteodysplastic primordial dwarfism, type iii, mopd, caroline crachami type, microcephalic osteodysplastic primordial dwarfism, caroline crachami type, microcephalic osteodysplastic primordial dwarfism, sicilian fairy type, Mopd iii]",,[210730],[2636],[Microcephalic osteodysplastic primordial dwarfism types I and III],[5120],,,,, +GARD:15146,Active,Orphanet+OMIM,OMIM:211900,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 1","[Tumoral calcinosis, hyperphosphatemic, familial, lipocalcinogranulomatosis, tumoral calcinosis, primary hyperphosphatemic, teutschlaender disease, familial, cortical hyperostosis with hyperphosphatemia, morbus teutschlaender, calcinosis, tumoral, with hyperphosphatemia, hyperostosis-hyperphosphatemia syndrome, hyperostosis with hyperphosphatemia]","Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({9:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({15:Frishberg et al., 2005}), {23:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({9:Chefetz et al., 2005}; {26:Ichikawa et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis\n\nAlso see HFTC2 ({617993}), caused by mutation in the FGF23 gene ({605380}) on chromosome 12p13, and HFTC3 ({617994}), caused by mutation in the KL gene ({604824}) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene.",[211900],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:15148,Active,Orphanet+OMIM,OMIM:212080,Subtype of disorder,[Disease subtype],"Cardiac lipidosis, familial",,,[212080],[137675],[Histiocytoid cardiomyopathy],[9511],,,,, +GARD:15149,Active,Orphanet+OMIM,OMIM:214110,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 2a (zellweger),,"The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.",[214110],[912],[Zellweger syndrome],[7917],,,,, +GARD:1515,Active,Orphanet,ORPHA:1484,Disorder,[Malformation syndrome],Contractures-ectodermal dysplasia-cleft lip/palate syndrome,[Ladda-Zonana-Ramer syndrome],"A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.",[301815],,,,,"Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay",TRUE,FALSE,Active +GARD:15150,Active,Orphanet+OMIM,OMIM:214150,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 1,"[pena-shokeir syndrome, type ii, Cofs syndrome]","Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by {4:Jaakkola et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome\n\nSee also COFS2 ({610756}), caused by mutation in the ERCC2 gene ({126340}); COFS3 ({616570}), caused by mutation in the ERCC5 gene ({133530}); and COFS4 ({610758}), caused by mutation in the ERCC1 gene ({126380}).",[214150],[1466],[COFS syndrome],[6027],,,,, +GARD:15151,Active,Orphanet+OMIM,OMIM:214300,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 2, autosomal recessive","[Kfs, autosomal recessive, cervical vertebral fusion, autosomal recessive]","Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({12:Tracy et al., 2004}).\n\n{3:Clarke et al. (1998)} proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100}).",[214300],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15152,Active,Orphanet+OMIM,OMIM:215450,Subtype of disorder,[Disease subtype],"Chorea, benign familial",,"Both a dominant (see {118700}) and a recessive form may exist. {3:Nutting et al. (1969)} described 3 affected sibs out of 5 with phenotypically normal, nonconsanguineous parents. {1:Chun et al. (1973)} described 4 affected sibs out of 7, again with normal, unrelated parents. Reduced penetrance in 1 parent is possible. {2:Damasio et al. (1977)} described the disorder in a brother and sister with normal parents.",[215450],[1429],[Benign hereditary chorea],[1305],,,,, +GARD:15153,Active,Orphanet+OMIM,OMIM:216360,Subtype of disorder,[Disease subtype],Coach syndrome 1,"[cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, Coach syndrome, joubert syndrome with congenital hepatic fibrosis]","COACH syndrome is an autosomal recessive disorder characterized by impaired intellectual development, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding ({1:Brancati et al., 2009}; {3:Doherty et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of COACH Syndrome\n\nAlso see COACH syndrome-2 (COACH2; {619111}), caused by mutation in in the CC2D2A gene ({612013}), and COACH syndrome-3 (COACH3; {619113}), caused by mutation in the RPGRIP1L gene ({610937}).\n\nMost cases of COACH syndrome are caused by mutation in the TMEM67 gene.",[216360],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:15154,Active,Orphanet+OMIM,OMIM:216400,Subtype of disorder,[Clinical subtype],Cockayne syndrome a,,"Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection ({36:Nance and Berry, 1992}).\n\n{26:Lowry (1982)} noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. {26:Lowry (1982)} thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. {29:Mallery et al. (1998)} found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment.\n\n<Subhead> Genetic Heterogeneity of Cockayne Syndrome\n\nCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B ({133540}), caused by mutation in the ERCC6 gene ({609413}) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene ({133530}) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene ({133510}) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13.\n\n{48:Rapin et al. (2000)} reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.",[216400],"[90321, 90322, 90324]","[Cockayne syndrome type 2, Cockayne syndrome type 1, Cockayne syndrome type 3]","[1417, 1415, 1420]",,,,, +GARD:15155,Active,Orphanet+OMIM,OMIM:216950,Subtype of disorder,[Disease subtype],Complement component c1r/c1s deficiency,[C1r/c1s deficiency],,[216950],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15156,Active,Orphanet+OMIM,OMIM:218300,Subtype of disorder,[Malformation syndrome subtype],Craniodiaphyseal dysplasia,,,[218300],[1513],[Craniodiaphyseal dysplasia],[1567],,,,, +GARD:15157,Active,Orphanet+OMIM,OMIM:219100,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal recessive, type ia","[cutis laxa, autosomal recessive, Arcl1]","Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {11:Davidson and Giro, 2002}).\n\nThe clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by {24:Morava et al., 2009}).\n\nClassification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by {11:Davidson and Giro, 2002}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see {123700}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Cutis Laxa\n\nAlso see ARCL1B ({614437}), caused by mutation in the FBLN4 gene (EFEMP2; {604633}), and ARCL1C ({613177}), caused by mutation in the LTBP4 gene (FAM72A; {614710}).\n\nARCL2A ({219200}) is caused by mutation in the ATP6V0A2 gene ({611716}). ARCL2B ({612940}) is caused by mutation in the PYCR1 gene ({179035}). ARCL2C ({617402}) is caused by mutation in the ATP6V1E1 gene ({108746}). ARCL2D ({617403}) is caused by mutation in the ATP6V1A gene ({607027}). ARCL2E ({619451}) is caused by mutation in the LTBP1 gene ({150390}).\n\nARCL3A ({219150}) is caused by mutation in the ALDH18A1 gene ({138250}). ARCL3B ({614438}) is caused by mutation in the PYCR1 gene ({179035}).",[219100],[90349],[Autosomal recessive cutis laxa type 1],[8480],,,,, +GARD:15158,Active,Orphanet+OMIM,OMIM:220110,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 1","[Mitochondrial complex iv deficiency, cytochrome c oxidase deficiency, cox deficiency]","Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by {32:Tiranti et al., 1998}; {33:Tiranti et al., 1999}; {31:Teraoka et al., 1999}; {22:Poyau et al., 2000})\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex IV Deficiency\n\nMost isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare ({30:Shoubridge, 2001}; {26:Sacconi et al., 2003}).\n\nMitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 ({604377}), caused by mutation in the SCO2 gene ({604272}); MC4DN3 ({619046}), caused by mutation in the COX10 gene ({602125}); MC4DN4 ({619048}), caused by mutation in the SCO1 gene ({603664}); MC4DN5 ({220111}), caused by mutation in the LRPPRC gene ({607544}); MC4DN6 ({615119}), caused by mutation in the COX15 gene ({603646}); MC4DN7 ({619051}), caused by mutation in the COX6B1 gene ({124089}); MC4DN8 ({619052}), caused by mutation in the TACO1 gene ({612958}); MC4DN9 ({616500}), caused by mutation in the COA5 gene ({613920}); MC4DN10 ({619053}), caused by mutation in the COX14 gene ({614478}); MC4DN11 ({619054}), caused by mutation in the COX20 gene ({614698}); MC4DN12 ({619055}), caused by mutation in the PET100 gene ({614770}); MC4DN13 ({616501}), caused by mutation in the COA6 gene ({614772}); MC4DN14 ({619058}), caused by mutation in the COA3 gene ({614775}); MC4DN15 ({619059}), caused by mutation in the COX8A gene ({123870}); MC4DN16 ({619060}), caused by mutation in the COX4I1 gene ({123864}); MC4DN17 ({619061}), caused by mutation in the APOPT1 gene ({616003}); MC4DN18 ({619062}), caused by mutation in the COX6A2 gene ({602009}); MC4DN19 ({619063}), caused by mutation in the PET117 gene ({614771}); MC4DN20 ({619064}), caused by mutation in the COX5A gene ({603773}); and MC4DN21 ({619065}), caused by mutation in the COXFA4 gene ({603883}).\n\nMitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 ({516030}), MTCO2 ({516040}), MTCO3 ({516050}), MTTS1 ({590080}), MTTL1 ({590050}), and MTTN ({590010}).",[220110],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:15159,Active,Orphanet+OMIM,OMIM:220111,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 5","[Cytochrome c oxidase deficiency, french canadian type, cox deficiency, french canadian type, cox deficiency, saguenay-lac-saint-jean type, leigh syndrome, french canadian type, leigh syndrome, saguenay-lac-saint-jean type]","Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see {256000}). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by {2:Debray et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[220111],[70472],"[Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type]",[8370],,,,, +GARD:1516,Active,Orphanet,ORPHA:1662,Disorder,[Disease],Restrictive dermopathy,"[Lethal hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy, Lethal tight skin-contracture syndrome]","A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.",[275210],,,,,"Tight skin contracture syndrome, lethal",TRUE,FALSE,Active +GARD:15160,Active,Orphanet+OMIM,OMIM:220210,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 1,"[3c syndrome, dandy-walker-like malformation with atrioventricular septal defect, Craniocerebellocardiac dysplasia]","The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by {10:Leonardi et al., 2001}; {4:Elliott et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Ritscher-Schinzel Syndrome\n\nSee also RTSC2 ({300963}), caused by mutation in the CCDC22 gene ({300859}) on chromosome Xp11; RTSC3 ({619135}), caused by mutation in the VPS35L gene ({618981}) on chromosome 16p12; and RTSC4 ({619435}), caused by mutation in the DPYSL5 gene ({608383}) on chromosome 2p23.",[220210],[7],[3C syndrome],[5666],,,,, +GARD:15161,Active,Orphanet+OMIM,OMIM:222400,Subtype of disorder,[Morphological anomaly subtype],Diaphragmatic hernia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 ({142340}).",[222400],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15162,Active,Orphanet+OMIM,OMIM:224690,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 1,"[Ear, patella, short stature syndrome, meier-gorlin syndrome, microtia, absent patellae, micrognathia syndrome]","The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by {16:Shalev and Hall, 2003}). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal ({1:Bicknell et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Meier-Gorlin Syndrome\n\nMost forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 ({613800}), caused by mutation in the ORC4 gene ({603056}) on chromosome 2q23; Meier-Gorlin syndrome-3 ({613803}), caused by mutation in the ORC6 gene ({607213}) on chromosome 16q11; Meier-Gorlin syndrome-4 ({613804}), caused by mutation in the CDT1 gene ({605525}) on chromosome 16q24; Meier-Gorlin syndrome-5 ({613805}), caused by mutation in the CDC6 gene ({602627}) on chromosome 17q21; Meier-Gorlin syndrome-7 ({617063}), caused by mutation in the CDC45L gene ({603465}) on chromosome 22q11; and Meier-Gorlin syndrome-8 ({617564}), caused by mutation in the MCM5 gene ({602696}) on chromosome 22q12.\n\nAn autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 ({616835}), is caused by mutation in the GMNN gene ({602842}) on chromosome 6p22.",[224690],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15163,Active,Orphanet+OMIM,OMIM:224900,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive","[Ectodermal dysplasia, hypohidrotic, ectodermal dysplasia, anhidrotic]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011}).",[224900],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:15164,Active,Orphanet+OMIM,OMIM:225200,Subtype of disorder,[Malformation syndrome subtype],Ectopia lentis et pupillae,[Ectopia lentis with ectopia of pupil],"Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by {5:Cruysberg and Pinckers, 1995}). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by {3:Christensen et al., 2010}).",[225200],[1885],[Isolated ectopia lentis],[12251],,,,, +GARD:15165,Active,Orphanet+OMIM,OMIM:225250,Subtype of disorder,[Morphological anomaly subtype],"Hypothyroidism, congenital, nongoitrous, 5",,,[225250],"[95720, 95712, 95713]","[Thyroid ectopia, Thyroid hypoplasia, Athyreosis]","[8426, 16841, 16842]",,,,, +GARD:15166,Active,Orphanet+OMIM,OMIM:225300,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 6,"[Ectrodactyly, autosomal recessive]","Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({2:Elliott and Evans, 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 ({183600}).",[225300],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15167,Active,Orphanet+OMIM,OMIM:225750,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 1,"[encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, cree encephalitis, pseudotoxoplasmosis syndrome, Ags]","Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1; {147660}), and negative serologic investigations for common prenatal infections ({5:Ali et al., 2006}). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process ({9:Crow et al., 2006}).\n\nIn a review of AGS, {26:Stephenson (2008)} noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.\n\nCree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome ({251290}), which shows phenotypic overlap and may in some cases represent AGS ({10:Crow et al., 2000}; {8:Crow et al., 2003}). AGS is distinct from the similarly named Aicardi syndrome ({304050}), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities.\n\n<Subhead> Genetic Heterogeneity of Aicardi-Goutieres Syndrome\n\nSee also AGS2 ({610181}), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B; {610326}) on chromosome 13q14; AGS3 ({610329}), caused by mutation in the RNASEH2C gene ({610330}) on chromosome 11q13; AGS4 ({610333}), caused by mutation in the RNASEH2A gene ({606034}) on chromosome 19p13; AGS5 ({612952}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11; AGS6 ({615010}), caused by mutation in the ADAR1 gene ({146920}) on chromosome 1q21; AGS7 ({615846}), caused by mutation in the IFIH1 gene ({606951}) on chromosome 2q24; AGS8 ({619486}), caused by mutation in the LSM11 gene ({617910}) on chromosome 5q33; and AGS9 ({619487}), caused by mutation in the RNU7-1 gene ({617876}) on chromosome 12p13.",[225750],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15168,Active,Orphanet+OMIM,OMIM:227645,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group c","[fanconi pancytopenia, type 3, Facc]","Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[227645],[84],[Fanconi anemia],[6425],,,,, +GARD:15169,Active,Orphanet+OMIM,OMIM:227646,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group d2","[fanconi anemia, complementation group d, Fad2, fanconi pancytopenia, type 4]","Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[227646],[84],[Fanconi anemia],[6425],,,,, +GARD:15170,Active,Orphanet+OMIM,OMIM:227650,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group a",[Fanconi anemia],"Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {29:Deakyne and Mazin, 2011}).\n\n{116:Soulier et al. (2005)} noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage.\n\nSome cases of Fanconi anemia have presented with a VACTERL ({192350}) or VACTERL-H ({276950}, {314390}) phenotype. In a group of 27 patients with Fanconi anemia group D1 ({605724}) due to biallelic mutations in the BRCA2 gene ({600185}), {2:Alter et al. (2007)} found that 5 patients had 3 or more VATER association anomalies and 1 was diagnosed with VACTERL-H. A VATER phenotype has also been reported in Fanconi anemia of complementation groups A, C ({227645}), E ({600901}), F ({603467}), and G ({602956}); VACTERL-H has also been described in patients with FANCB ({300515}) mutations ({73:McCauley et al., 2011}). {98:Savage et al. (2015)} added patients with FANCI ({609053}) to this list and stated that patients with FANCD2 ({227646}) and FANCL ({614083}) had also been reported to have features of VACTERL association.\n\n<Subhead> Genetic Heterogeneity of Fanconi Anemia\n\nOther Fanconi anemia complementation groups include FANCB ({300514}), caused by mutation in the FANCB ({300515}) on chromosome Xp22; FANCC ({227645}), caused by mutation in the FANCC ({613899}) on chromosome 9q22; FANCD1 ({605724}), caused by mutation in the BRCA2 ({600185}) on chromosome 13q12; FANCD2 ({227646}), caused by mutation in the FANCD2 gene ({613984}) on chromosome 3p25; FANCE ({600901}), caused by mutation in the FANCE gene ({613976}) on chromosome 6p21; FANCF ({603467}), caused by mutation in the FANCF gene ({613897}) on chromosome 11p15; FANCG ({614082}), caused by mutation in the XRCC9 gene (FANCG; {602956}) on chromosome 9p13; FANCI ({609053}), caused by mutation in the FANCI gene ({611360}) on chromosome 15q26; FANCJ ({609054}), caused by mutation in the BRIP1 gene ({605882}) on chromosome 17q22; FANCL ({614083}), caused by mutation in the PHF9 gene (FANCL; {608111}) on chromosome 2p16; FANCN ({610832}), caused by mutation in the PALB2 gene ({610355}) on chromosome 16p12; FANCO ({613390}), caused by mutation in the RAD51C ({602774}) on chromosome 17q22; FANCP ({613951}), caused by mutation in the SLX4 gene ({613278}) on chromosome 16p13; FANCQ ({615272}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13; FANCR ({617244}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; FANCS ({617883}), caused by mutation in the BRCA1 gene ({113705}) on chromosome 17q21; FANCT ({616435}), caused by mutation in the UBE2T gene ({610538}) on chromosome 1q31; FANCU ({617247}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; FANCV ({617243}), caused by mutation in the MAD2L2 gene ({604094}) on chromosome 1p36; and FANCW ({617784}), caused by mutation in the RFWD3 gene ({614151}) on chromosome 16q23.\n\nThe previously designated FANCH complementation group ({60:Joenje et al., 1997}) was found by {59:Joenje et al. (2000)} to be the same as FANCA.\n\nA patient originally reported to have Fanconi anemia of complementation group M (FANCM) due to mutation in the FAAP250 gene ({609644}) by {75:Meetei et al. (2005)} was subsequently found by {115:Singh et al. (2009)} to have FANCA.",[227650],[84],[Fanconi anemia],[6425],,,,, +GARD:15171,Active,Orphanet+OMIM,OMIM:228020,Subtype of disorder,[Disease subtype],"Fascial dystrophy, congenital",,"{2:Jablonska et al. (1989)} described 4 patients with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two of the patients were sibs and one was the product of a consanguineous marriage, suggesting autosomal recessive inheritance. The disorder was noted in early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of viscera or muscles and no immunologic abnormalities. The most important laboratory finding was markedly thickened fascia. {2:Jablonska et al. (1989)} suggested that this was the human model of the 'tight-skin' mouse (Tsk) as described by {1:Green et al. (1976)}. Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome ({184900}).",[228020],[2833],[Stiff skin syndrome],[5025],,,,, +GARD:15172,Active,Orphanet+OMIM,OMIM:231050,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 1,,"Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {4:Le Goff et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Geleophysic Dysplasia\n\nGeleophysic dysplasia-2 (GPHYSD2; {614185}) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene ({134797}) on chromosome 15q21.1. Acromicric dysplasia ({102370}) and the autosomal dominant form of Weill-Marchesani syndrome ({608328}) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.\n\nGeleophysic dysplasia-3 (GPHYSD3; {617809}) is caused by heterozygous mutation in the LTBP3 gene ({602090}) on chromosome 11q13.",[231050],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:15173,Active,Orphanet+OMIM,OMIM:232240,Subtype of disorder,[Clinical subtype],Glycogen storage disease ic,[Gsd ic],,[232240],[79259],[Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib],[2515],,,,, +GARD:15174,Active,Orphanet+OMIM,OMIM:233420,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 7","[46,xy gonadal dysgenesis, partial or complete, dhh-related, gonadal dysgenesis, xy, male-limited, 46,xy sex reversal, partial or complete, dhh-related]",,[233420],[242],"[46,XY complete gonadal dysgenesis]",[5068],,,,, +GARD:15175,Active,Orphanet+OMIM,OMIM:233690,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 4","[cyba deficiency, cgd due to deficiency of the alpha subunit of cytochrome b, cgd, autosomal recessive cytochrome b-negative, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative]",Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.',[233690],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15176,Active,Orphanet+OMIM,OMIM:233700,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 1","[soluble oxidase component ii deficiency, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i, neutrophil cytosol factor 1 deficiency, granulomatous disease, chronic, due to ncf1 deficiency, cgd, autosomal recessive cytochrome b-positive, type i, ncf1 deficiency, soc2 deficiency, p47-phox deficiency]",,[233700],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15177,Active,Orphanet+OMIM,OMIM:233710,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 2","[Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii, ncf2 deficiency, granulomatous disease, chronic, due to ncf2 deficiency, neutrophil cytosol factor 2 deficiency, p67-phox deficiency, cgd, autosomal recessive cytochrome b-positive, type ii]",,[233710],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15179,Active,Orphanet+OMIM,OMIM:235370,Subtype of disorder,[Disease subtype],Hemolytic anemia with thermal sensitivity of red cells,,"Heat-treated red cells undergo fragmentation and microspherocyte transformation in vitro. The same process occurs in vivo in severely burned persons. {2:Zarkowsky et al. (1975)} observed red cell morphology similar to that of the hemolytic anemia of burns in 3 children with congenital hemolytic anemia and demonstrated temperature-induced changes in the morphology and membrane composition of red cells. Two of the 3 patients were sibs. The parents of these 2 sibs showed normal red cell morphology and thermal sensitivity. Curiously, the sex of the patients was not stated. (See {1:Wiley and Gill (1976)} for another example of a presumed genetic, red cell membrane defect.)",[235370],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:1518,Active,Orphanet,ORPHA:140927,Disorder,[Disease],Benign familial neonatal-infantile seizures,"[BFNIS, Benign neonatal-infantile epilepsy]","Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.",[607745],,,,,Benign familial neonatal-infantile seizures,TRUE,FALSE,Active +GARD:15180,Active,Orphanet+OMIM,OMIM:235500,Subtype of disorder,[Disease subtype],"Hemosiderosis, pulmonary, with deficiency of gamma-a globulin",,Idiopathic pulmonary hemosiderosis has not been shown to be familial. That a generalized dysfunction of the macrophages system may be involved in some cases and that the defect may be genetically determined is suggested by the finding in some cases of deficiency of gamma-A globulin and of histologic alterations in the lymphoreticular organs compatible with an immune deficiency disorder.,[235500],[99931],[Idiopathic pulmonary hemosiderosis],[6763],,,,, +GARD:15181,Active,Orphanet+OMIM,OMIM:235510,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 1,"[Hennekam lymphangiectasia-lymphedema syndrome, lymphatic dysplasia, generalized]","Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome\n\nSee also HKLLS2 ({616006}), caused by mutation in the FAT4 gene ({612411}) on chromosome 4q28, and HKLLS3 ({618154}), caused by mutation in the ADAMTS3 gene ({605011}) on chromosome 4q13.",[235510],[2136],[Hennekam syndrome],[3318],,,,, +GARD:15182,Active,Orphanet+OMIM,OMIM:236680,Subtype of disorder,[Malformation syndrome subtype],Hydrolethalus syndrome 1,,,[236680],[2189],[Hydrolethalus],[6683],,,,, +GARD:15183,Active,Orphanet+OMIM,OMIM:238710,Subtype of disorder,[Disease subtype],Hyperlysinemia due to defect in lysine transport into mitochondria,,{1:Oyanagi et al. (1986)} described 2 sibs with hyperlysinemia and mental retardation in whom the enzyme activities of lysine-alpha-ketoglutarate reductase ({238700}) and saccharopine dehydrogenase ({268700}) in liver were normal. Studies on lysine oxidation in cultured skin fibroblasts suggested that the hyperlysinemia in these patients was due to a defect of transport of lysine into mitochondria.,[238710],[2203],[Hyperlysinemia],[2828],,,,, +GARD:15184,Active,Orphanet+OMIM,OMIM:240500,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 2","[Antibody deficiency due to taci defect, hypogammaglobulinemia due to taci deficiency]",,[240500],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15185,Active,Orphanet+OMIM,OMIM:241600,Subtype of disorder,[Disease subtype],Immunodeficiency 43,"[hypoproteinemia, hypercatabolic, b2m deficiency, Beta-2-microglobulin deficiency]",,[241600],[34592],[Immunodeficiency by defective expression of MHC class I],[8427],,,,, +GARD:15186,Active,Orphanet+OMIM,OMIM:242050,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, hypercalcinuria, and decreased bone density",,"{1:Sperling et al. (1974)} described this combination. Renal clearance of uric acid was greatly increased. Two brothers and a sister were affected, together with 2 grandchildren, products of a first-cousin marriage of obligatory heterozygotes. Hypouricemia occurs with xanthine oxidase deficiency ({278300}), Wilson disease ({277900}), and Fanconi renotubular syndrome ({134600}) and as a primary renal hypouricemia ({220150}).",[242050],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15187,Active,Orphanet+OMIM,OMIM:242100,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 2","[Collodion baby, self-healing, ichthyosiform erythroderma, nonbullous congenital, 1, formerly, ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[242100],"[281122, 79394]","[Self-improving collodion baby, Congenital non-bullous ichthyosiform erythroderma]","[9736, 17303]",,,,, +GARD:15188,Active,Orphanet+OMIM,OMIM:242860,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 1,"[Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, centromeric instability, immunodeficiency syndrome, immunodeficiency syndrome, variable]","Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients ({11:Hagleitner et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome\n\nSee also ICF2 ({614069}), caused by mutation in the ZBTB24 gene ({614064}) on chromosome 6q21; ICF3 ({616910}), caused by mutation in the CDCA7 gene ({609937}) on chromosome 2q31; and ICF4 ({616911}), caused by mutation in the HELLS gene ({603946}) on chromosome 10q23.",[242860],[2268],[ICF syndrome],[2945],,,,, +GARD:15189,Active,Orphanet+OMIM,OMIM:243310,Subtype of disorder,[Malformation syndrome subtype],Baraitser-winter syndrome 1,"[pachygyria, mental retardation, epilepsy, and characteristic facies, mental retardation with epilepsy and characteristic facies, fryns-aftimos syndrome, cerebrofrontofacial syndrome, chromosome 7p22 deletion syndrome, cerebrooculofacial lymphatic syndrome, Iris coloboma with ptosis, hypertelorism, and mental retardation]","BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by {21:Verloes et al., 2015}). {5:Di Donato et al. (2014)} and {21:Verloes et al. (2015)} suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by {3:Cuvertino et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Baraitser-Winter Syndrome\n\nBaraitser-Winter syndrome-2 (BRWS2; {614583}) is caused by heterozygous mutation in the ACTG1 gene ({102560}) on chromosome 17q25.",[243310],[2995],[Baraitser-Winter cerebrofrontofacial syndrome],[5279],,,,, +GARD:1519,Active,Orphanet,ORPHA:1949,Disorder,[Disease],Benign familial neonatal epilepsy,"[BFNS, Benign familial neonatal convulsions, Benign familial neonatal seizures]",Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.,"[121201, 121200, 269720, 608217]",,,,,Convulsions benign familial neonatal dominant form,TRUE,FALSE,Active +GARD:15190,Active,Orphanet+OMIM,OMIM:243320,Subtype of disorder,[Disease subtype],"Intrinsic factor and r binder, combined congenital deficiency of",,"In the 14.5-year-old son of a first-cousin Algerian couple, {1:Zittoun et al. (1988)} identified deficiency of both intrinsic factor and R binder. Separate deficiencies are well described (see {261000} and {193090}, respectively). The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. Intrinsic factor was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juice as well as from serum, saliva, and polymorphonuclear leukocytes.",[243320],[332],[Congenital intrinsic factor deficiency],[3024],,,,, +GARD:15191,Active,Orphanet+OMIM,OMIM:245300,Subtype of disorder,[Disease subtype],"Kuru, susceptibility to",,"Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by {16:Wadsworth et al., 2008}).",[245300],[454745],[Kuru],[7617],,,,, +GARD:15192,Active,Orphanet+OMIM,OMIM:246300,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 3",,,[246300],[548],[Leprosy],[6886],,,,, +GARD:15193,Active,Orphanet+OMIM,OMIM:246560,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 3,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({6:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[246560],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15194,Active,Orphanet+OMIM,OMIM:247650,Subtype of disorder,[Disease subtype],Lymphokine deficiency,,"Chronic mucocutaneous candidiasis can have many causes, e.g., (1) failure of lymphocytes to transform in response to antigen, either because of an intrinsic defect ({247450}) or because of an inhibiting serum factor ({247430}); (2) failure of production of lymphokine; or (3) unresponsiveness of monocytes to lymphokine ({252250}). Deficient production of lymphokine despite normal lymphoblastic transformation was demonstrated by {1:Lehner et al. (1972)}.",[247650],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15195,Active,Orphanet+OMIM,OMIM:249210,Subtype of disorder,[Malformation syndrome subtype],Megacystis-microcolon-intestinal hypoperistalsis syndrome 1,"[berdon syndrome, Megacystis-microcolon-intestinal hypoperistalsis syndrome]","Megacystis-microcolon-intestinal hypoperistalsis syndrome-1 (MMIHS1) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. A distended bladder (megacystis) may be detected on prenatal ultrasound. Intestinal malrotation has also been observed (summary by {6:Halim et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\nSee MMIHS2 ({619351}), caused by mutation in the MYH11 gene ({160745}) on chromosome 16p13; MMIHS3 ({619362}), caused by mutation in the LMOD1 gene ({602715}) on chromosome 1q32; MMIHS4 ({619365}), caused by mutation in the MYL9 gene ({609905}) on chromosome 20q11; and MMIHS5 ({619431}), caused by mutation in the ACTG2 gene ({102545}) on chromosome 2p13.",[249210],[2241],[Megacystis-microcolon-intestinal hypoperistalsis syndrome],[3442],,,,, +GARD:15196,Active,Orphanet+OMIM,OMIM:250790,Subtype of disorder,[Disease subtype],Methemoglobinemia and ambiguous genitalia,"[methemoglobinemia due to deficiency of cytochrome b5, formerly, Isolated 17,20-lyase deficiency, pure, methemoglobinemia type iv, formerly]","Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme ({609300}), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients ({6:Idkowiak et al., 2012}).\n\nOther autosomal recessive methemoglobinemias include types I and II (see {250800}), caused by mutation in the CYB5R3 gene ({613213}). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene ({609300}), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see {124015.0016}).",[250790],[621],[Hereditary methemoglobinemia],[2659],,,,, +GARD:15197,Active,Orphanet+OMIM,OMIM:250800,Subtype of disorder,[Disease subtype],Methemoglobinemia due to deficiency of methemoglobin reductase,"[Nadh-dependent methemoglobin reductase deficiency, methemoglobinemia, congenital, autosomal recessive, nadh-cytochrome b5 reductase deficiency]","Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by {40:Percy and Lappin, 2008}).\n\nThere are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids ({53:Vives-Corrons et al., 1978}; {28:Kaplan et al., 1979}).",[250800],[621],[Hereditary methemoglobinemia],[2659],,,,, +GARD:15198,Active,Orphanet+OMIM,OMIM:251200,Subtype of disorder,[Etiological subtype],"Microcephaly 1, primary, autosomal recessive","[premature chromosome condensation syndrome, pcc syndrome, Premature chromosome condensation with microcephaly and mental retardation]","Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by {29:Woods et al., 2005}).\n\nMost cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' ({9:Hofman, 1984}).\n\nMCPH1 in particular is associated with premature chromosome condensation in cell studies ({4:Darvish et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Primary Microcephaly\n\nPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 ({604317}), caused by mutation in the WDR62 gene ({613583}) on chromosome 19q13; MCPH3 ({604804}), caused by mutation in the CDK5RAP2 gene ({608201}) on 9q33; MCPH4 ({604321}), caused by mutation in the CASC5 gene ({609173}) on 15q14; MCPH5 ({608716}), caused by mutation in the ASPM gene ({605481}) on 1q31; MCPH6 ({608393}), caused by mutation in the CENPJ gene ({609279}) on 13q12; MCPH7 ({612703}), caused by mutation in the STIL gene ({181590}) on 1p33; MCPH8 ({614673}), caused by mutation in the CEP135 gene ({611423}) on 4q12; MCPH9 ({614852}), caused by mutation in the CEP152 gene ({613529}) on 15q21; MCPH10 ({615095}), caused by mutation in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene ({603368}) on 7q21; MCPH13 ({616051}), caused by mutation in the CENPE gene ({117143}) on 4q24; MCPH14 ({616402}), caused by mutation in the SASS6 gene ({609321}) on 1p21; MCPH15 ({616486}), caused by mutation in the MFSD2A gene ({614397}) on 1p34; MCPH16 ({616681}), caused by mutation in the ANKLE2 gene ({616062}) on 12q24; MCPH17 ({617090}), caused by mutation in the CIT gene ({605629}) on 12q24; MCPH18 ({617520}), caused by mutation in the WDFY3 gene ({617485}) on 4q21; and MCPH19 ({617800}), caused by mutation in the COPB2 gene ({606990}) on 3q23; MCPH20 ({617914}), caused by mutation in the KIF14 gene ({611279}) on 1q31; MCPH21 ({617983}), caused by mutation in the NCAPD2 gene ({615638}) on 12p13; MCPH22 ({617984}), caused by mutation in the NCAPD3 gene ({609276}) on 11q25; MCPH23 ({617985}), caused by mutation in the NCAPH gene ({602332}) on 2q11; MCPH24 ({618179}), caused by mutation in the NUP37 gene ({609264}) on 12q23; MCPH25 ({618351}), caused by mutation in the MAP11 gene ({618350}) on 7q22; MCPH26 ({619179}), caused by mutation in the LMNB1 gene ({150340}) on 5q23; MCPH27 ({619180}), caused by mutation in the LMNB2 gene ({150341}) on 19p13; and MCPH28 ({619453}), caused by mutation in the RRP7A gene ({619449}) on 22q13.",[251200],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15199,Active,Orphanet+OMIM,OMIM:251300,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 1,"[nephrosis-neuronal dysmigration syndrome, Microcephaly, hiatal hernia, and nephrotic syndrome, nephrosis-microcephaly syndrome, galloway syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities, spinocerebellar ataxia, autosomal recessive 5, formerly]","Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by {18:Vodopiutz et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Galloway-Mowat Syndrome\n\nSee also GAMOS2 ({301006}), caused by mutation in the LAGE3 gene ({300060}) on chromosome Xq28; GAMOS3 ({617729}), caused by mutation in the OSGEP gene ({610107}) on chromosome 14q11; GAMOS4 ({617730}), caused by mutation in the TP53RK gene ({608679}) on chromosome 20q13; GAMOS5 ({617731}), caused by mutation in the TPRKB gene ({608680}) on chromosome 2p13; GAMOS6 ({618347}), caused by mutation in the WDR4 gene ({605924}) on chromosome 21q22; GAMOS7 ({618348}), caused by mutation in the NUP107 gene ({607617}) on chromosome 12q15; GAMOS8 ({618349}), caused by mutation in the NUP133 gene ({607613}) on chromosome 1q42; GAMOS9 ({619603}), caused by mutation in the GON7 gene ({617436}) on chromosome 14q32; and GAMOS10 ({619609}), caused by mutation in the YRDC gene ({612276}) on chromosome 1p34.",[251300],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:152,Legacy,GARD,,,,,,,,,,,,Samson Viljoen syndrome,TRUE,FALSE,Active +GARD:15200,Active,Orphanet+OMIM,OMIM:251505,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 4",[Microphthalmia with colobomatous cyst],"For a discussion of genetic heterogeneity of isolated microphthalmia with coloboma, see MCOPCB1 ({300345}).\n\nIsolated microphthalmia associated with colobomatous cyst results from a defect in the closure of the embryonic fissure at the 7- to 20-mm stage of development. Microphthalmia can be associated with either a small, clinically undetectable cyst, or a large, typically inferior cyst that deforms the eye and its surroundings. It is usually unilateral, although bilateral cases have been described. {2:Porges et al. (1992)} described 5 cases of microphthalmia with colobomatous cyst in 3 separate sibships of a highly inbred kindred. Orbital computed tomography was useful in defining the size of the globe and characterizing the cystic lesions. None of the 5 patients had light perception in either eye and there was no recordable electroretinogram or visual evoked potentials. Most of the globes were deeply set and undetectable clinically (clinical anophthalmos).\n\n{1:Hornby et al. (2000)} correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis.",[251505],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15201,Active,Orphanet+OMIM,OMIM:252010,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 1","[nadh:q(1) oxidoreductase deficiency, nadh-coenzyme q reductase deficiency, Mitochondrial complex i deficiency, mitochondrial nadh dehydrogenase component of complex i, deficiency of]","Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({21:McFarland et al., 2004}; {16:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see {256000}), Leber hereditary optic neuropathy ({535000}), and some forms of Parkinson disease (see {556500}) ({19:Loeffen et al., 2000}; {26:Pitkanen et al., 1996}; {28:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {14:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({19:Loeffen et al., 2000}; {33:Triepels et al., 2001}).\n\nComplex I deficiency resulting from mutation in nuclear-encoded genes include MC1DN1, caused by mutation in the NDUFS4 gene ({602694}); MC1DN2 ({618222}), caused by mutation in the NDUFS8 gene ({602141}); MC1DN3 ({618224}), caused by mutation in the NDUFS7 gene ({601825}); MC1DN4 ({618225}), caused by mutation in the NDUFV1 gene ({161015}); MC1DN5 ({618226}), caused by mutation in the NDUFS1 gene ({157655}); MC1DN6 ({618228}), caused by mutation in the NDUFS2 gene ({602985}); MC1DN7 ({618229}), caused by mutation in the NDUFV2 gene ({600532}); MC1DN8 ({618230}), caused by mutation in the NDUFS3 gene ({603846}); MC1DN9 ({618232}), caused by mutation in the NDUFS6 gene ({603848}); MC1DN10 ({618233}), caused by mutation in the NDUFAF2 gene ({609653}); MC1DN11 ({618234}), caused by mutation in the NDUFAF1 gene ({606934}); MC1DN12 ({301020}), caused by mutation in the NDUFA1 gene ({300078}); MC1DN13 ({618235}), caused by mutation in the NDUFA2 gene ({602137}); MC1DN14 ({618236}), caused by mutation in the NDUFA11 gene ({612638}); MC1DN15 ({618237}), caused by mutation in the NDUFAF4 gene ({611776}); MC1DN16 ({618238}), caused by mutation in the NDUFAF5 gene ({612360}); MC1DN17 ({618239}), caused by mutation in the NDUFAF6 gene ({612392}); MC1DN18 ({618240}), caused by mutation in the NDUFAF3 gene ({612911}); MC1DN19 ({618241}), caused by mutation in the FOXRED1 gene ({613622}); MC1DN20 ({611126}), caused by mutation in the ACAD9 gene ({611103}); MC1DN21 ({618242}), caused by mutation in the NUBPL gene ({613621}); MC1DN22 ({618243}), caused by mutation in the NDUFA10 gene ({603835}); MC1DN23 ({618244}), caused by mutation in the NDUFA12 gene ({614530}); MC1DN24 ({618245}), caused by mutation in the NDUFB9 gene ({601445}); MC1DN25 ({618246}), caused by mutation in the NDUFB3 gene ({603839}); MC1DN26 ({618247}), caused by mutation in the NDUFA9 gene ({603834}); MC1DN27 ({618248}), caused by mutation in the MTFMT gene ({611766}); MC1DN28 ({618249}), caused by mutation in the NDUFA13 gene ({609435}); MC1DN29 ({618250}), caused by mutation in the TMEM126B gene ({615533}); MC1DN30 ({301021}), caused by mutation in the NDUFB11 gene ({300403}); MC1DN31 ({618251}), caused by mutation in the TIMMDC1 gene ({615534}); MC1DN32 ({618252}), caused by mutation in the NDUFB8 gene ({602140}); MC1DN33 ({618253}), caused by mutation in the NDUFA6 gene ({602138}); MC1DN34 ({618776}), caused by mutation in the NDUFAF8 gene ({618461}); MC1DN35 ({619003}), caused by mutation in the NDUFB10 gene ({603843}); MC1DN36 ({619170}), caused by mutation in the NDUFC2 gene ({603845}); MC1DN37 ({619272}), caused by mutation in the NDUFA8 gene ({603359}); and MC1DN38 ({619382}), caused by mutation in the DNAJC30 gene ({618202}).\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 ({516000}), MTND2 ({516001}), MTND3 ({516002}), MTND4 ({516003}), MTND5 ({516005}), MTND6 ({516006}). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; {535000}) or Leigh syndrome. Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 ({590085}).",[252010],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:15202,Active,Orphanet+OMIM,OMIM:252011,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 1","[succinate dehydrogenase deficiency, Succinate coq reductase deficiency]","Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by {6:Jain-Ghai et al., 2013}).\n\nComplex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain.\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex II Deficiency\n\nSee MC2DN2 ({619166}), caused by mutation in the SDHAF1 gene ({612848}) on chromosome 19q13; MC2DN3 ({619167}), caused by mutation in the SDHD gene ({602690}) on chromosome 11q23; and MC2DN4 ({619224}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36.\n\n{5:Fullerton et al. (2020)} reviewed the genetic basis of isolated mitochondrial complex II deficiency.",[252011],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:15203,Active,Orphanet+OMIM,OMIM:252250,Subtype of disorder,[Disease subtype],Monocyte chemotactic disorder,,"In a 9-year-old girl with chronic mucocutaneous candidiasis and cutaneous anergy, {1:Snyderman et al. (1973)} found that mononuclear leukocytes failed to migrate in vitro toward two chemotactic stimuli, leukocyte-derived chemotactic factor and C5A. After treatment with transfer factor, the patient's monocytes responded to both chemotactic factors. There is no information on the genetics of this presumably genetic disorder, but autosomal recessive inheritance is a reasonable presumption. Deficiency of leukocyte myeloperoxidase has been found with disseminated candidiasis ({254600}). In other cases chronic mucocutaneous candidiasis has been related to a deficiency of lymphokine ({247650}) or a defect in lymphocyte transformation that either is intrinsic ({247450}) or results from inhibition by a serum factor ({247430}).",[252250],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15204,Active,Orphanet+OMIM,OMIM:253280,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3","[Walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' (summary by {7:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[253280],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15205,Active,Orphanet+OMIM,OMIM:253800,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4","[walker-warburg syndrome or muscle-eye-brain disease, fktn-related, Fukuyama congenital muscular dystrophy]","MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({8:Godfrey et al., 2007}; {19:Muntoni and Voit, 2004}; {18:Muntoni et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[253800],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15206,Active,Orphanet+OMIM,OMIM:254300,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 10","[cms ib, formerly, myasthenic myopathy, formerly, congenital myasthenic syndrome type ib, formerly, Myasthenia, limb-girdle, familial, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[254300],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15207,Active,Orphanet+OMIM,OMIM:255160,Subtype of disorder,[Disease subtype],"Myopathy, myosin storage, autosomal recessive","[Myopathy, hyaline body, autosomal recessive]",,[255160],[53698],[Hyaline body myopathy],[7148],,,,, +GARD:15208,Active,Orphanet+OMIM,OMIM:255200,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 2","[Myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive]",,[255200],[169186],[Autosomal recessive centronuclear myopathy],[12718],,,,, +GARD:15209,Active,Orphanet+OMIM,OMIM:256030,Subtype of disorder,[Disease subtype],Nemaline myopathy 2,,"Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by {3:Lehtokari et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({4:Lehtokari et al., 2006}).",[256030],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,,,, +GARD:1521,Active,Orphanet,ORPHA:565,Disorder,[Disease],Menkes disease,"[MD, Menkes kinky hair disease, Menkes syndrome]","A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.",[309400],,,,,Menkes disease,TRUE,FALSE,Active +GARD:15210,Active,Orphanet+OMIM,OMIM:256370,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 4",,"Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by {7:Schumacher et al., 1998}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[256370],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15211,Active,Orphanet+OMIM,OMIM:256700,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 1",,"Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system ({52:Roberts et al., 1998}; {20:Eng, 2008}). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis ({52:Roberts et al., 1998}).\n\nNeuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; {115310}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Neuroblastoma\n\nSusceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene ({603851}) on chromosome 4p12 (NBLST2; {613013}) and by mutation in the ALK gene ({105590}) on chromosome 2p23 (NBLST3; {613014}).\n\nLoci implicated in the development of neuroblastoma include 6p (NBLST4; {613015}), 2q35 (NBLST5; {613016}), and 1q21 (NBLST6; {613017}).",[256700],[635],[Neuroblastoma],[7185],,,,, +GARD:15212,Active,Orphanet+OMIM,OMIM:257270,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1b","[Night blindness, congenital stationary, complete, autosomal recessive, csnb, complete, autosomal recessive]",,[257270],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15213,Active,Orphanet+OMIM,OMIM:257850,Subtype of disorder,[Malformation syndrome subtype],"Oculodentodigital dysplasia, autosomal recessive","[odod, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, Oddd, autosomal recessive]",,[257850],[2710],[Oculodentodigital dysplasia],[7239],,,,, +GARD:15214,Active,Orphanet+OMIM,OMIM:258150,Subtype of disorder,[Disease subtype],Spermatogenic failure 1,"[Oligosynaptic infertility, oligochiasmatic infertility]","Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by {5:Luetjens et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Spermatogenic Failure\n\nSee SPGF2 ({108420}), caused by mutation in the MSH4 gene ({602105}) on chromosome 1p31; SPGF3 ({606766}), caused by mutation in the SLC26A8 gene ({608480}) on chromosome 6p21; SPGF4 ({270960}), caused by mutation in the SYCP3 gene ({604759}) on chromosome 12q23; SPGF5 ({243060}), caused by mutation in the AURKC gene ({603495}) on chromosome 19q13; SPGF6 ({102530}), caused by mutation in the SPATA16 gene ({609856}) on chromosome 3q26; SPGF7 ({612997}), caused by mutation in the CATSPER gene ({606389}) on chromosome 11q13; SPGF8 ({613957}), caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; SPGF9 ({613958}), caused by mutation in the DPY19L2 gene ({613893}) on chromosome 12q14; SPGF10 ({614822}), caused by mutation in the SEPT12 gene ({611562}) on chromosome 16p13; SPGF11 ({615081}), caused by mutation in the KLHL10 gene ({608778}) on chromosome 17p21; SPGF12 ({615413}), caused by mutation in the NANOS1 gene ({608226}) on chromosome 10q26; SPGF13 ({615841}), caused by mutation in the TAF4B gene ({601689}) on chromosome 18q11; SPGF14 ({615842}), caused by mutation in the ZMYND15 gene ({614312}) on chromosome 17p13; SPGF15 ({616950}), caused by mutation in the SYCE1 gene ({611486}) on chromosome 10q26; SPGF16 ({617187}), caused by mutation in the SUN5 gene ({613942}) on chromosome 20q11; SPGF17 ({617214}), caused by mutation in the PLCZ1 gene ({608075}) on chromosome 12p12; SPGF18 ({617576}), caused by mutation in the DNAH1 gene ({603332}) on chromosome 3p21; SPGF19 ({617592}), caused by mutation in the CFAP43 gene ({617558}) on chromosome 10q25; SPGF20 ({617593}), caused by mutation in the CFAP44 gene ({617559}) on chromosome 3q13; SPGF21 ({617644}), caused by mutation in the BRDT gene ({602144}) on chromosome 1p22; SPGF22 ({617706}), caused by mutation in the MEIOB gene ({617670}) on chromosome 16p13; SPGF23 ({617707}), caused by mutation in the TEX14 gene ({605792}) on chromosome 17q22; SPGF24 ({617959}), caused by mutation in the CFAP69 gene ({617949}) on chromosome 7q21; SPGF25 ({617960}), caused by mutation in the TEX15 gene ({605795}) on chromosome 8p12; SPGF26 ({617961}), caused by mutation in the TSGA10 gene ({607166}) on chromosome 2q11; SPGF27 ({617965}), caused by mutation in the AK7 gene ({615364}) on chromosome 14q32; SPGF28 ({618086}), caused by mutation in the FANCM gene ({609644}) on chromosome 14q21; SPGF29 ({618091}), caused by mutation in the SPINK2 gene ({605753}) on chromosome 4q12; SPGF30 ({618110}), caused by mutation in the TDRD9 gene ({617963}) on chromosome 14q32; SPGF31 ({618112}), caused by mutation in the PMFBP1 gene ({618085}) on chromosome 16q22; SPGF32 ({618115}), caused by mutation in the SOHLH1 gene ({610224}) on chromosome 9q34; SPGF33 ({618152}), caused by mutation in the WDR66 gene ({618146}) on chromosome 12q24; SPGF34 ({618153}), caused by mutation in the FSIP2 gene ({615796}) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene ({618304}) on chromosome 17q25; SPGF36 ({618420}), caused by mutation in the PPP2R3C gene ({615902}) on chromosome 14q13; SPGF37 ({618429}), caused by mutation in the TTC21A gene ({611430}) on chromosome 3p22; SPGF38 ({618433}), caused by mutation in the ARMC2 gene ({618424}) on chromosome 6q21; SPGF39 ({618643}), caused by mutation in the DNAH17 gene ({610063}) on chromosome 17q25; SPGF40 ({618664}), caused by mutation in the CFAP65 gene ({614270}) on chromosome 2q35; SPGF41 ({618670}), caused by mutation in the CFAP70 gene ({618661}) on chromosome 10q22; SPGF42 ({618745}), caused by mutation in the TTC29 gene ({618735}) on chromosome 4q31; SPGF43 ({618751}), caused by mutation in the SPEF2 gene ({610172}) on chromosome 5p13; SPGF44 ({619044}), caused by mutation in the CEP112 gene ({618980}) on chromosome 17q24; SPGF45 ({619094}), caused by mutation in the DNAH2 gene ({603333}) on chromosome 17p13; SPGF46 ({619095}), caused by mutation in the DNAH8 gene ({603337}) on chromosome 6p21; SPGF47 ({619102}), caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32; SPGF48 ({619108}), caused by mutation in the M1AP gene ({619098}) on chromosome 2p13; SPGF49 ({619144}), caused by mutation in the CFAP58 gene ({619129}) on chromosome 10q25; SPGF50 ({619145}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; SPGF51 ({619177}), caused by mutation in the CFAP91 gene ({609910}) on chromosome 3q13; SPGF52 ({619202}), caused by mutation in the C14ORF39 gene ({617307}) on chromosome 14q23; SPGF53 ({619258}), caused by mutation in the ACTL9 gene ({619251}) on chromosome 19p13; SPGF54 ({619379}), caused by mutation in the CATIP gene ({619387}) on chromosome 2q35; SPGF55 ({619380}), caused by mutation in the SPAG17 gene ({616554}) on chromosome 1p12; SPGF56 ({619515}), caused by mutation in the DNAH10 gene ({605884}) on chromosome 12q24; SPGF57 ({619528}), caused by mutation in the PNLDC1 gene ({619529}) on chromosome 6q25; SPGF58 ({619585}), caused by mutation in the IFT74 gene ({608040}) on chromosome 9p21; SPGF59 ({619645}), caused by mutation in the TERB2 gene ({617131}) on chromosome 15q21; SPGF60 ({619646}), caused by mutation in the TERB1 gene ({617332}) on chromosome 16q22; SPGF61 ({619672}), caused by mutation in the STAG3 gene ({608489}) on chromosome 7q22; SPGF62 ({619673}), caused by mutation in the RNF212 gene ({612041}) on chromosome 4p16; SPGF63 ({619689}), caused by mutation in the RPL10L gene ({619655}) on chromosome 14q21; SPGF64 ({619696}), caused by mutation in the FBXO43 gene ({609110}) on chromosome 8q22; SPGF65 ({619712}), caused by mutation in the DNHD1 gene ({617277}) on chromosome 11p15; SPGF66 ({619799}), caused by mutation in the ZPBP gene ({608498}) on chromosome 7p12; SPGF67 ({619803}), caused by mutation in the CCDC62 gene ({613481}) on chromosome 12q24; SPGF68 ({619805}), caused by mutation in the C2CD6 gene ({613481}) on chromosome 2q33; SPGF69 ({619826}), caused by mutation in the GGN gene ({609966}) on chromosome 19q13; and SPGF70 ({619828}), caused by mutation in the PDHA2 gene ({179061}) on chromosome 4q22; SPGF71 ({619831}), caused by mutation in the ZSWIM7 gene ({614535}) on chromosome 17p12; SPGF72 ({619867}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; SPGF73 ({619878}), caused by mutation in the MOV10L1 gene ({605794}) on chromosome 22q13; SPGF74 ({619937}), caused by mutation in the MSH5 gene ({603382}) on chromosome 6p21; and SPGF75 ({619949}), caused by mutation in the SHOC1 gene ({618038}) on chromosome 9q31.\n\nX-linked forms of spermatogenic failure include SPGFX1 ({305700}), SPGFX2 ({309120}), SPGFX3 ({301059}), and SPGFX4 ({301077}).\n\nY-linked forms of spermatogenic failure include SPGFY1 ({400042}) and SPGFY2 ({415000}).\n\nSpermatogenic failure can also result from underlying endocrinologic disorders (see, e.g., hypogonadotropic hypogonadism, {146110}) or ciliary dyskinesias (see, e.g., CILD1, {244400}).",[258150],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15215,Active,Orphanet+OMIM,OMIM:258450,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1","[Progressive external ophthalmoplegia, autosomal recessive 1]","Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{7:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({6:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 ({616479}), caused by mutation in the RNASEH1 gene ({604123}) on chromosome 2p25; PEOB3 ({617069}), caused by mutation in the TK2 gene ({188250}) on chromosome 16q21; PEOB4 ({617070}), caused by mutation in the DGUOK gene ({601465}) on chromosome 2p13; and PEOB5 ({618098}), caused by mutation in the TOP3A gene ({601243}) on chromosome 17p11.",[258450],[254886],[Autosomal recessive progressive external ophthalmoplegia],[1191],,,,, +GARD:15216,Active,Orphanet+OMIM,OMIM:259100,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal recessive, 1","[pdp, autosomal recessive, touraine-solente-gole syndrome, Pho, autosomal recessive, pachydermoperiostosis, autosomal recessive]","Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by {26:Uppal et al., 2008}; {16:Radhakrishnan et al., 2020}).\n\nSecondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm ({26:Uppal et al., 2008}).\n\n{25:Touraine et al. (1935)} recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nPHOAR2 ({614441}) is caused by mutation in the SLCO2A1 gene ({601460}) on chromosome 3q22.\n\nFamilies with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; {167100}).",[259100],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15217,Active,Orphanet+OMIM,OMIM:259200,Subtype of disorder,[Malformation syndrome subtype],"Blount disease, adolescent","[Osteochondrosis deformans tibiae, adolescent, tibia vara, adolescent]","Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {3:Sabharwal, 2009}).",[259200],[2768],[Blount disease],[916],,,,, +GARD:15218,Active,Orphanet+OMIM,OMIM:259750,Subtype of disorder,[Malformation syndrome subtype],"Osteoporosis, juvenile",[Idiopathic juvenile osteoporosis],"Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. This condition, which may be a distinct recessively inherited entity, was delineated by {4:Dent and Friedman (1965)} and was reviewed by {3:Dent (1969)}. The condition described by {2:Chowers et al. (1962)} may fall into this category, but the presence of amino aciduria and low serum uric acid makes a renal tubular defect of the Fanconi type likely. {7:Marder et al. (1982)} demonstrated low plasma calcitriol (1,25-dihydroxycholecalciferol) and normal serum calcifediol (25-hydroxycholecalciferol) in a 12-year-old girl with idiopathic juvenile osteoporosis. Deficiency of calcitonin has been suspected in cases of IJO, but exogenous calcitonin, in the experience of {5:Jackson et al. (1988)}, had no benefit. Although IJO heals spontaneously in conjunction with sexual maturation, exogenous estrogen and androgen treatment has not been beneficial. {8:Teotia et al. (1979)} described 4 affected children and tabulated the features of 27 other reported patients.",[259750],[85193],[Idiopathic juvenile osteoporosis],[6760],,,,, +GARD:15219,Active,Orphanet+OMIM,OMIM:260130,Subtype of disorder,[Disease subtype],"Pachyonychia congenita, autosomal recessive",,"For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.",[260130],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:1522,Active,Orphanet,ORPHA:1551,Disorder,[Disease],Familial benign copper deficiency,[Familial benign hypocupremia],"Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.",[121270],,,,,"Copper deficiency, familial benign",TRUE,FALSE,Active +GARD:15220,Active,Orphanet+OMIM,OMIM:260370,Subtype of disorder,[Morphological anomaly subtype],Pancreatic agenesis 1,"[Pagen, pancreatic hypoplasia, congenital]",,[260370],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:15221,Active,Orphanet+OMIM,OMIM:260400,Subtype of disorder,[Disease subtype],Shwachman-diamond syndrome 1,"[Shwachman-diamond syndrome, lipomatosis of pancreas, congenital, pancreatic insufficiency and bone marrow dysfunction, shwachman-bodian syndrome]","Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by {12:Dror and Freedman, 1999}).\n\nFor a review of Shwachman-Diamond syndrome, see {14:Dror and Freedman (2002)}.\n\n<Subhead> Genetic Heterogeneity of Shwachman-Diamond Syndrome\n\nShwachman-Diamond syndrome-2 (SDS2; {617941}) is caused by mutation in the EFL1 gene ({617538}) on chromosome 15q25.",[260400],[811],[Shwachman-Diamond syndrome],[4863],,,,, +GARD:15222,Active,Orphanet+OMIM,OMIM:262600,Subtype of disorder,[Disease subtype],"Pituitary hormone deficiency, combined, 2","[Panhypopituitarism, hanhart dwarfism, pituitary dwarfism iii, ateliotic dwarfism with hypogonadism]",,[262600],"[95494, 90695]","[Combined pituitary hormone deficiencies, genetic forms, Non-acquired panhypopituitarism]","[10602, 15020]",,,,, +GARD:15223,Active,Orphanet+OMIM,OMIM:263210,Subtype of disorder,[Disease subtype],Gillessen-kaesbach-nishimura syndrome,"[Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia]","Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by {4:Tham et al., 2016}).",[263210],[79328],[ALG9-CDG],[9839],,,,, +GARD:15224,Active,Orphanet+OMIM,OMIM:263520,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 6 with or without polydactyly,"[short rib-polydactyly syndrome, type iia, majewski syndrome, polydactyly with neonatal chondrodystrophy, type ii, Short rib-polydactyly syndrome, type ii, srps, type ii]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {6:Huber and Cormier-Daire, 2012} and {11:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[263520],[93269],"[Short rib-polydactyly syndrome, Majewski type]",[4833],,,,, +GARD:15225,Active,Orphanet+OMIM,OMIM:264050,Subtype of disorder,[Malformation syndrome subtype],Prenatal bowing,,"Uncomplicated prenatal bowing of the long bones with dimpling has been described in sibs ({1:Conway, 1958}; {4:Mahloudji et al., 1974}). Prenatal bowing also occurs with osteogenesis imperfecta, hypophosphatasia, and camptomelic dysplasia. {2:Hall and Spranger (1980)} gave a review of congenital bowing of the long bones and identified 3 groups of cases among the 'bewildering variety of bone changes and associated clinical abnormalities which only rarely seem to fall into a recognizable pattern.' {3:Kapur and Van Vloten (1986)} observed congenital bowing in a child whose mother had bowing in infancy. Her adult height was 159.5 cm and x-rays showed minimal bowing of the femur. The child's bowing of the femurs was self-correcting over a period of 22 months.",[264050],[2292],[Congenital bowing of long bones],[953],,,,, +GARD:15226,Active,Orphanet+OMIM,OMIM:266510,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 3b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.",[266510],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15227,Active,Orphanet+OMIM,OMIM:266920,Subtype of disorder,[Disease subtype],Short-rib thoracic dysplasia 9 with or without polydactyly,"[renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia, conorenal syndrome, Mainzer-saldino syndrome]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {5:Huber and Cormier-Daire, 2012} and {13:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[266920],[140969],[Saldino-Mainzer syndrome],[8600],,,,, +GARD:15228,Active,Orphanet+OMIM,OMIM:267200,Subtype of disorder,[Disease subtype],Renal tubular acidosis iii,"[Rta, dislocation type, rta, bicarbonate-wasting type]","{3:Morris et al. (1969)} observed 2 unrelated infant girls with a distinct form of bicarbonate-wasting RTA, which they referred to as dislocation type. {1:Huth et al. (1960)} separated the group with onset in infancy and childhood from that with onset in later life. The former seems to be a genetic disorder transmitted as an autosomal recessive, although a predominance of males has been observed. {4:Wilson et al. (1967)} studied 2 families, each with a case of late-onset renal tubular acidosis, and found elevation of serum immunoglobulins in close relatives but no other cases of renal tubular acidosis. Renal tubular acidosis becomes apparent because of: periodic paralysis due to hypokalemia; rickets or osteomalacia; kidney stones; or nephrocalcinosis by abdominal x-ray.",[267200],[2785],[Osteopetrosis with renal tubular acidosis],[4154],,,,, +GARD:15229,Active,Orphanet+OMIM,OMIM:267300,Subtype of disorder,[Clinical subtype],"Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","[rta with progressive nerve deafness, renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis, autosomal recessive, with progressive nerve deafness]",,[267300],[402041],[Autosomal recessive distal renal tubular acidosis],[4666],,,,, +GARD:1523,Legacy,GARD,,,,,,,,,,,,Cormier Rustin Munnich syndrome,TRUE,FALSE,Active +GARD:15230,Active,Orphanet+OMIM,OMIM:268025,Subtype of disorder,[Disease subtype],"Retinitis pigmentosa, late-adult onset","[Retinitis pigmentosa, 'senile']","Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. {1:Bonneau et al. (1992)} reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. {2:Grondahl (1987)} described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, {3:Kaplan et al. (1990)} found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered. They found 2 main clinical profiles: one type was characterized by precocious onset (mean age, 7.5 years) and severe progression, whereas the second type occurred later (mean age, 17 years) and had a milder clinical course. RP with late onset (senile RP) may represent a third type of autosomal recessive retinitis pigmentosa.",[268025],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15231,Active,Orphanet+OMIM,OMIM:268060,Subtype of disorder,[Disease subtype],"Retinopathy, pericentral pigmentary, autosomal recessive","[Retinitis pigmentosa, pericentral]","{2:Traboulsi et al. (1988)} described a brother and sister, born to parents related as third cousins, who had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the sibs were examined for strabismus. The optic discs, maculae, and retinal vessels were normal. Both sibs had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged for 9 and 13 years in the brother and sister, respectively. Results of eye examinations in the father, mother, and older sister were normal. The stability of the retinal findings in visual acuity suggested a long-term favorable prognosis. {2:Traboulsi et al. (1988)} found 18 well-documented cases of pericentral pigmentary retinopathy in the literature. Although recessive inheritance had been suggested, it had never been substantiated in any of the reports. Disorders that have been labeled as central pigmentary retinopathy or inverse retinitis pigmentosa include cone-rod dystrophy ({120970}), Stargardt disease ({248200}), and Best disease ({153700}).\n\n{1:Sandberg et al. (2005)} studied 18 patients, aged 32 to 65 years, with pericentral retinitis pigmentosa with follow-up for 3 to 26 years. Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity, 1.9% for visual field area, and 2.9% for electroretinogram amplitude for 30 Hz flashes. {1:Sandberg et al. (2005)} noted that these rates were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa. Their patient sample included 2 pairs of affected sibs with normal parents and otherwise isolated cases.\n\nSee {180210} for a possible autosomal dominant form of pericentral pigmentary retinopathy.",[268060],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15232,Active,Orphanet+OMIM,OMIM:268240,Subtype of disorder,[Disease subtype],Rheumatic fever-related antigen,"[Rheumatic fever, acute, susceptibility to, included]","Rheumatic fever (RF) is a delayed sequel to throat infection by Streptococcus pyogenes and affects susceptible untreated children. The disease manifests as polyarthritis, carditis, chorea, erythema marginatum, and/or subcutaneous nodules. Nearly 75% of affected children display arthritis and 30 to 45% develop carditis, which causes heart damage with pericardial, myocardial, and endocardial involvement followed by progressive and permanent valvular lesions leading to rheumatic heart disease (RHD) (summary by {2:Guilherme et al., 2007}).",[268240],[3099],[Rheumatic fever],[5699],,,,, +GARD:15233,Active,Orphanet+OMIM,OMIM:269500,Subtype of disorder,[Malformation syndrome subtype],Sclerosteosis 1,"[Sost, cortical hyperostosis with syndactyly]","Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {8:Brunkow et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Sclerosteosis\n\nSclerosteosis-2 (SOST2; {614305}) is caused by mutation in the LRP4 gene ({604270}) on chromosome 11p11.",[269500],[3152],[Sclerosteosis],[4771],,,,, +GARD:15234,Active,Orphanet+OMIM,OMIM:269720,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, autosomal recessive","[epilepsy, benign familial neonatal, autosomal recessive, convulsions, benign familial neonatal, autosomal recessive, Bfns, autosomal recessive]","For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 ({121200}).",[269720],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15235,Active,Orphanet+OMIM,OMIM:270960,Subtype of disorder,[Disease subtype],Spermatogenic failure 4,"[azoospermia with maturation arrest, Azoospermia due to perturbations of meiosis, spermatogenesis arrest]","Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., {277180}) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., {415000}) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).\n\n<Subhead> Recurrent Pregnancy Loss\n\nMiscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {6:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {8:Warren and Silver, 2008}).\n\nFor a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 ({614389}).",[270960],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15236,Active,Orphanet+OMIM,OMIM:270970,Subtype of disorder,[Disease subtype],"Spherocytosis, type 3","[Spherocytosis, hereditary, 3]",,[270970],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15237,Active,Orphanet+OMIM,OMIM:271600,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, autosomal recessive",,,[271600],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,,,, +GARD:15238,Active,Orphanet+OMIM,OMIM:273395,Subtype of disorder,[Malformation syndrome subtype],Tetraamelia syndrome 1,"[Tetraamelia syndrome, autosomal recessive]","Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects ({5:Niemann et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of tetraamelia syndrome\n\nTetraamelia syndrome-2 (TETAMS2; {618021}) is caused by mutation in the RSPO2 gene ({610575}) on chromosome 8q23.",[273395],[3301],[Tetraamelia-multiple malformations syndrome],[386],,,,, +GARD:15239,Active,Orphanet+OMIM,OMIM:273750,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 1,"[le merrer syndrome, gloomy face syndrome, dolichospondylic dysplasia, 3m syndrome]","3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by {2:Badina et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3M Syndrome\n\nAlso see 3M syndrome-2 (3M2; {612921}), caused by mutation in the OBSL1 gene ({610991}) on chromosome 2q35, and 3M syndrome-3 (3M3; {614205}), caused by mutation in the CCDC8 gene ({614145}) on chromosome 19q13.",[273750],[2616],[3M syndrome],[5667],,,,, +GARD:1524,Legacy,GARD,,,,,,,,,,,,Corneal anesthesia deafness mental retardation,TRUE,FALSE,Retired +GARD:15240,Active,Orphanet+OMIM,OMIM:273800,Subtype of disorder,[Disease subtype],Glanzmann thrombasthenia 1,"[thrombasthenia of glanzmann and naegeli, platelet glycoprotein iib-iiia deficiency, glanzmann thrombasthenia, gp iib-iiia complex deficiency, Bleeding disorder, platelet-type, 2, platelet fibrinogen receptor deficiency, glycoprotein complex iib-iiia deficiency]","Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; {173470}) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene ({50:Rosenberg et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Glanzmann Thrombasthenia\n\nSee Glanzmann thrombasthenia-2 (GT2; {619267}), caused by mutation the ITGB3 gene ({173470}) on chromosome 17q21.32.\n\nSee review by {6:Botero et al. (2020)}.",[273800],[849],[Glanzmann thrombasthenia],[2478],,,,, +GARD:15241,Active,Orphanet+OMIM,OMIM:276901,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iia",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({14:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type II\n\nUsher syndrome type II is genetically heterogeneous. USH2C ({605472}) is caused by mutation in the ADGRV1 gene ({602851}) or by biallelic digenic mutation in the ADGRV1 and PDZD7 ({612971}) genes. USH2D ({611383}) is caused by mutation in the WHRN gene ({607928}).\n\nThe locus designation USH2B has been withdrawn; see HISTORY.",[276901],[231178],[Usher syndrome type 2],[5440],,,,, +GARD:15242,Active,Orphanet+OMIM,OMIM:276902,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iiia","[Usher syndrome, type iii]","Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({10:Karjalainen et al., 1985}; {13:Pakarinen et al., 1995}).\n\nFor a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 ({276900}).\n\n<Subhead> Genetic Heterogeneity of Usher syndrome Type III\n\nUsher syndrome type IIIB ({614504}) is caused by mutation in the HARS gene ({142810}) on chromosome 5q31.3.",[276902],[231183],[Usher syndrome type 3],[5442],,,,, +GARD:15243,Active,Orphanet+OMIM,OMIM:277180,Subtype of disorder,[Morphological anomaly subtype],"Vas deferens, congenital bilateral aplasia of",[Cavd],"Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by {16:Patat et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens\n\nAlso see CBAVDX ({300985}), caused by mutation in the ADGRG2 gene ({300572}).",[277180],[48],[Congenital bilateral absence of vas deferens],[5461],,,,, +GARD:15244,Active,Orphanet+OMIM,OMIM:277470,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2a","[Pch2, volendam neurodegenerative disease, pontocerebellar hypoplasia with progressive cerebral atrophy]","Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2\n\nPCH2B ({612389}) is caused by mutation in the TSEN2 gene ({608753}) on chromosome 3p25, and PCH2C ({612390}) is caused by mutation in the TSEN34 gene ({608754}) on chromosome 19q13. PCH2D ({613811}) is caused by mutation in the SEPSECS gene ({613009}) on chromosome 4p15. PCH2E ({615851}) is caused by mutation in the VPS53 gene ({615850}) on chromosome 17p13. PCH2F ({617026}) is caused by mutation in the TSEN15 gene ({608756}) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.",[277470],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15245,Active,Orphanet+OMIM,OMIM:277580,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4a","[ws4, Waardenburg syndrome, type iva, waardenburg syndrome with hirschsprung disease, type 4a, waardenburg-shah syndrome, shah-waardenburg syndrome]","Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}). WS type 4A is caused by mutation in the EDNRB gene ({131244}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Waardenburg Syndrome Type 4\n\nWaardenburg syndrome type 4 is genetically heterogeneous. WS4B ({613265}) is caused by mutation in the EDN3 gene ({131242}) on chromosome 20q13, and WS4C ({613266}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13.",[277580],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15246,Active,Orphanet+OMIM,OMIM:277600,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 1,"[mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, Weill-marchesani syndrome, autosomal recessive]","Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by {1:Dagoneau et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Weill-Marchesani Syndrome\n\nA phenotypically similar, autosomal dominant form of WMS (WMS2; {608328}) is caused by mutation in the FBN1 gene ({134797}) on chromosome 15q21. Autosomal recessive WMS3 ({614819}) is caused by mutation in the LTBP2 gene ({602091}) on chromosome 14q24. Autosomal recessive WMS4 ({613195}) is caused by mutation in the ADAMTS17 gene ({607511}) on chromosome 15q24.",[277600],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15247,Active,Orphanet+OMIM,OMIM:278150,Subtype of disorder,[Disease subtype],Hypotrichosis 8,"[Hypotrichosis, localized, autosomal recessive 3]","Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood ({7:Pasternack et al., 2008}). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by {9:Schaffer et al., 2006}).\n\nWoolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by {8:Petukhova et al., 2009}). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair ({5:Khan et al., 2011}).\n\nWoolly hair is also a feature of several syndromes, such as Naxos disease ({601214}) and cardiofaciocutaneous syndrome ({115150}) ({8:Petukhova et al., 2009}), or the palmoplantar keratoderma and cardiomyopathy syndrome ({601214}) ({3:Carvajal-Huerta, 1998}).\n\n<Subhead> Genetic Heterogeneity of Hypotrichosis and Woolly Hair\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).\n\nFor a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; {607903}).\n\nAnother form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; {604379}) is caused by mutation in the LIPH gene ({607365}) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 ({616760}) is caused by mutation in the KRT25 gene ({616646}) on chromosome 17q21.\n\nAn autosomal dominant form of woolly hair with hypotrichosis (HYPT13; {615896}) is caused by mutation in the KRT71 gene ({608245}) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; {194300}) with normal hair density is caused by mutation in the KRT74 gene ({608248}) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; {613981}) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; {614929}).",[278150],"[170, 55654]","[Hypotrichosis simplex, Woolly hair]","[9170, 5597]",,,,, +GARD:15248,Active,Orphanet+OMIM,OMIM:615511,Subtype of disorder,[Disease subtype],Myopathy due to myoadenylate deaminase deficiency,"[myoadenylate deaminase deficiency, myopathy due to, ampd1 deficiency, Adenosine monophosphate deaminase-1 deficiency, myopathy due to]","Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., {22:Verzijl et al., 1998}) that AMPD1 deficiency may be a harmless entity (summary by {2:Castro-Gago et al., 2011}).\n\n{7:Genetta et al. (2001)} stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent ({15:Sabina et al., 1989}). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to {7:Genetta et al. (2001)}.",[615511],[45],[Adenosine monophosphate deaminase deficiency],[547],,,,, +GARD:15249,Active,Orphanet+OMIM,OMIM:278850,Subtype of disorder,[Malformation syndrome subtype],"46,xx sex reversal 2",,,[278850],[393],"[46,XX testicular disorder of sex development]",[399],,,,, +GARD:1525,Active,Orphanet,ORPHA:3177,Disorder,[Malformation syndrome],Spinocerebellar degeneration-corneal dystrophy syndrome,[Der Kaloustian-Jarudi-Khoury syndrome],"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.",[271310],,,,,Spinocerebellar degeneration and corneal dystrophy,TRUE,FALSE,Active +GARD:15250,Active,Orphanet+OMIM,OMIM:300001,Subtype of disorder,[Disease subtype],"Ichthyosis, x-linked, without steroid sulfatase deficiency",,,[300001],[461],[Recessive X-linked ichthyosis],[7904],,,,, +GARD:15251,Active,Orphanet+OMIM,OMIM:300071,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 2a","[night blindness, congenital stationary, type 2, Csnb, incomplete, x-linked]",,[300071],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15253,Active,Orphanet+OMIM,OMIM:300147,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, x-linked 1",,"For a general discussion of hereditary prostate cancer, see {176807}.",[300147],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15254,Active,Orphanet+OMIM,OMIM:300260,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, x-linked, syndromic, lubs type","[mental retardation, x-linked, with recurrent respiratory infections, Lubs x-linked mental retardation syndrome, mecp2 duplication syndrome]","X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) is a neurodevelopmental disorder characterized by severely to profoundly impaired intellectual development, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by {11:Ramocki et al., 2010}).",[300260],[1762],[Proximal Xq28 duplication syndrome],[9781],,,,, +GARD:15255,Active,Orphanet,ORPHA:172,Disorder,[Disease],Progressive familial intrahepatic cholestasis,[PFIC],Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.,"[615878, 601847, 602347, 211600]",,,,,,,, +GARD:15256,Active,Orphanet+OMIM,OMIM:300388,Subtype of disorder,[Clinical subtype],"Polymicrogyria, bilateral perisylvian, x-linked",,"Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding ({10:Kuzniecky et al., 1993}).\n\nPMG may be a feature of other conditions as well (see, e.g., {300643}).",[300388],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:15257,Active,Orphanet+OMIM,OMIM:300514,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group b","[Facb, fanconi pancytopenia, type 2]","Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nPatients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see {314390}), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia ({9:McCauley et al., 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[300514],[84],[Fanconi anemia],[6425],,,,, +GARD:15258,Active,Orphanet+OMIM,OMIM:300580,Subtype of disorder,[Disease subtype],"Myopathy, congenital, with fiber-type disproportion, x-linked",,"For a general phenotypic description of congenital fiber-type disproportion, see CFTD ({255310}).",[300580],[2020],[Congenital fiber-type disproportion myopathy],[6161],,,,, +GARD:15259,Active,Orphanet+OMIM,OMIM:300590,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 2,"[Cornelia de lange syndrome, x-linked, cdls, x-linked]","Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}) (summary by {3:Musio et al., 2006}, {1:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[300590],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:1526,Legacy,GARD,,,,,,,,,,,,Corneal crystals myopathy neuropathy,TRUE,FALSE,Active +GARD:15260,Active,Orphanet+OMIM,OMIM:300704,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, x-linked 2",,"For a general discussion of hereditary prostate cancer, see {176807}.",[300704],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15261,Active,Orphanet+OMIM,OMIM:300717,Subtype of disorder,[Disease subtype],"Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset",,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; {300718}) (summary by {3:Liewluck et al., 2007} and {6:Shalaby et al., 2009}).",[300717],[97239],[Reducing body myopathy],[12162],,,,, +GARD:15262,Active,Orphanet+OMIM,OMIM:300718,Subtype of disorder,[Disease subtype],"Reducing body myopathy, x-linked 1b, with late childhood or adult onset",,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; {300717}), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by {3:Liewluck et al., 2007} and {7:Shalaby et al., 2009}).",[300718],[97239],[Reducing body myopathy],[12162],,,,, +GARD:15263,Active,Orphanet+OMIM,OMIM:300770,Subtype of disorder,[Disease subtype],"Surfactant metabolism dysfunction, pulmonary, 4","[csf2ra deficiency, Pulmonary alveolar proteinosis, congenital, 4, pap due to csf2ra deficiency]","Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB ({138960}) expression. Acquired PAP ({610910}), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 ({138960}) ({1:Martinez-Moczygemba et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).",[300770],[264675],[Hereditary pulmonary alveolar proteinosis],[4582],,,,, +GARD:15264,Active,Orphanet+OMIM,OMIM:300799,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, x-linked, syndromic, raymond type","[Mental retardation, x-linked, syndromic, raymond type]","Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by {1:Baker et al., 2015} and {4:Schirwani et al., 2018}).",[300799],[776],[Lujan-Fryns syndrome],[3307],,,,, +GARD:15265,Active,Orphanet+OMIM,OMIM:300804,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 10,,"Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis ({2:Coene et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[300804],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:15266,Active,Orphanet+OMIM,OMIM:300815,Subtype of disorder,[Malformation syndrome subtype],Chromosome xq28 duplication syndrome,,,[300815],[1762],[Proximal Xq28 duplication syndrome],[9781],,,,, +GARD:15267,Active,Orphanet+OMIM,OMIM:300833,Subtype of disorder,[Malformation syndrome subtype],"46,xx sex reversal 3",,,[300833],[393],"[46,XX testicular disorder of sex development]",[399],,,,, +GARD:15268,Active,Orphanet+OMIM,OMIM:300834,Subtype of disorder,[Disease subtype],"Macular degeneration, x-linked atrophic",,,[300834],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15269,Active,Orphanet+OMIM,OMIM:300857,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia,,,[300857],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15270,Active,Orphanet+OMIM,OMIM:300867,Subtype of disorder,[Malformation syndrome subtype],Kabuki syndrome 2,,"Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy ({8:Niikawa et al., 1981}).\n\nFor a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 ({147920}).",[300867],[2322],[Kabuki syndrome],[6810],,,,, +GARD:15271,Active,Orphanet+OMIM,OMIM:300882,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 5,,"Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene ({300040}) (CDLS2; {300590}) (summary by {7:Musio et al., 2006}, {4:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[300882],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:15272,Active,Orphanet+OMIM,OMIM:300887,Subtype of disorder,[Malformation syndrome subtype],Linear skin defects with multiple congenital anomalies 2,"[Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies]",,[300887],[2556],[Microphthalmia with linear skin defects syndrome],[3659],,,,, +GARD:15273,Active,Orphanet+OMIM,OMIM:300918,Subtype of disorder,[Disease subtype],"Olmsted syndrome, x-linked","[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked]","X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by {4:Yaghoobi et al., 2007}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594}).",[300918],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:15274,Active,Orphanet+OMIM,OMIM:300943,Subtype of disorder,[Disease subtype],"Pituitary adenoma 2, growth hormone-secreting","[Acromegaly due to pituitary adenoma 2, acromegaly, x-linked]",,[300943],[963],[Acromegaly],[5725],,,,, +GARD:15275,Active,Orphanet+OMIM,OMIM:300946,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 14 with mandibulofacial dysostosis,,,[300946],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15276,Active,Orphanet+OMIM,OMIM:300952,Subtype of disorder,[Malformation syndrome subtype],Linear skin defects with multiple congenital anomalies 3,[Linear skin defects with cardiomyopathy and other congenital anomalies],,[300952],[2556],[Microphthalmia with linear skin defects syndrome],[3659],,,,, +GARD:15277,Active,Orphanet+OMIM,OMIM:300953,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 5, nonphotosensitive",,"Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by {2:Mendelsohn et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 ({601675}).",[300953],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:15278,Active,Orphanet+OMIM,OMIM:300963,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 2,,"Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by {1:Kolanczyk et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210}).",[300963],[7],[3C syndrome],[5666],,,,, +GARD:15279,Active,Orphanet+OMIM,OMIM:300985,Subtype of disorder,[Morphological anomaly subtype],"Vas deferens, congenital bilateral aplasia of, x-linked",,"Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see {277180}), mutations are identified in the CFTR gene ({602421}). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by {1:Patat et al., 2016}).",[300985],[48],[Congenital bilateral absence of vas deferens],[5461],,,,, +GARD:1528,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy ichthyosis microcephaly mental retardation,TRUE,FALSE,Retired +GARD:15280,Active,Orphanet+OMIM,OMIM:300991,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 36, x-linked","[Ciliary dyskinesia, primary, 36, with or without situs inversus]","CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by {2:Paff et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[300991],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15281,Active,Orphanet+OMIM,OMIM:301006,Subtype of disorder,[Malformation syndrome subtype],"Galloway-mowat syndrome 2, x-linked",,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[301006],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:15282,Active,Orphanet+OMIM,OMIM:301008,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, x-linked, syndromic, houge type","[Mental retardation, x-linked, syndromic, houge type]","The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by {2:Damiano et al., 2017}).",[301008],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:15283,Active,Orphanet+OMIM,OMIM:301020,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 12",,,[301020],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:15284,Active,Orphanet+OMIM,OMIM:301021,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 30",,,[301021],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:15285,Active,Orphanet+OMIM,OMIM:301028,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 20",,"Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first decade of life in affected males. The course of the disorder is highly variable: some patients progress to end-stage kidney disease and may die in childhood without renal transplantation, whereas others have milder symptoms and maintain normal renal function. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by {1:Dorval et al., 2019} and {2:Kampf et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[301028],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15286,Active,Orphanet+OMIM,OMIM:301058,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 90,,"Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by {1:Fry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[301058],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:15287,Active,Orphanet+OMIM,OMIM:302045,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 3b","[Cardiomyopathy, dilated, x-linked]",,[302045],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15289,Active,Orphanet+OMIM,OMIM:304800,Subtype of disorder,[Disease subtype],"Diabetes insipidus, nephrogenic, 1, x-linked","[Ndi, diabetes insipidus, nephrogenic, type i]","Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form (type I; NDI1), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (type II; NDI2, {125800}), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; {107777}) on chromosome 12q13 ({24:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus ({125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.",[304800],[223],[Nephrogenic diabetes insipidus],[7178],,,,, +GARD:1529,Active,Orphanet,ORPHA:1490,Disorder,[Malformation syndrome],Corneal dystrophy-perceptive deafness syndrome,"[CDPD, Corneal dystrophy with progressive deafness, Corneal dystrophy with progressive hearing loss, Corneal dystrophy-perceptive hearing loss syndrome, Harboyan syndrome]","Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.",[217400],,,,,Corneal dystrophy and perceptive deafness,TRUE,FALSE,Active +GARD:15290,Active,Orphanet+OMIM,OMIM:304950,Subtype of disorder,[Disease subtype],"Dyggve-melchior-clausen syndrome, x-linked",,"{2:Yunis et al. (1980)} described a Colombian family in which 10 males in 3 generations, in a typical X-linked recessive pedigree pattern, had the Dyggve-Melchior-Clausen syndrome. The affected males varied in age from 13 to 15 years. Normal intelligence was another difference from the autosomal recessive form. The authors cited some reported families that are equally consistent with X-linked or autosomal recessive inheritance ({223800}). {1:Spranger (1981)} suggested that the disorder described by {2:Yunis et al. (1980)} was in fact X-linked SED tarda ({313400}).",[304950],[239],[Dyggve-Melchior-Clausen disease],[6295],,,,, +GARD:15291,Active,Orphanet+OMIM,OMIM:305350,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, x-linked",,"{1:Androphy et al. (1985)} described a kindred in which a 56-year-old man had EDV, none of his 5 sons or 5 daughters had EDV, and 4 of his grandsons (through 2 daughters) had EDV. All were infected with human papillomavirus 3 (HPV 3) and with HPV 8. The proband, who had onset of warts at age 5 years with no regression over the next 50 years and with extension to cover about 10% of his skin surface, had squamous carcinoma arising on sun-exposed areas of the face, ears, neck, back, arms, and hands over the previous 25 years. Other pedigrees have suggested autosomal inheritance although whether dominant as suggested by some families or recessive as suggested by parental consanguinity (see {226400}) is not certain.",[305350],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:15292,Active,Orphanet+OMIM,OMIM:305390,Subtype of disorder,[Disease subtype],"Exudative vitreoretinopathy 2, x-linked","[Exudative vitreoretinopathy, familial, 2, evrx, fevr, x-linked]","Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {9:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of FEVR, see EVR1 ({133780}).",[305390],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15293,Active,Orphanet+OMIM,OMIM:305620,Subtype of disorder,[Disease subtype],Frontometaphyseal dysplasia 1,[Fmd],"Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; {311300}), otopalatodigital syndrome-2 (OPD2; {304120}), and Melnick-Needles syndrome (MNS; {309350}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {17:Robertson, 2005}). {22:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'\n\n<Subhead> Genetic Heterogeneity of Frontometaphyseal Dysplasia\n\nFrontometaphyseal dysplasia-2 (FMD2; {617137}) is caused by mutation in the MAP3K7 gene ({602614}) on chromosome 6q15.",[305620],[1826],[Frontometaphyseal dysplasia],[826],,,,, +GARD:15294,Active,Orphanet+OMIM,OMIM:306400,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, x-linked","[Cgd, cytochrome b-negative granulomatous disease, chronic, x-linked, chronic granulomatous disease, x-linked]","X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by {32:Dinauer et al., 2001} and {57:Johnston, 2001}; summary by {102:Song et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Chronic Granulomatous Disease\n\nChronic granulomatous disease can be caused by mutation in several genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also CGD1 ({233700}), caused by mutation in the NCF1 gene ({608512}) on chromosome 7q11; CGD2 ({233710}), caused by mutation in the NCF2 gene ({608515}) on chromosome 1q25; CGD3 ({613960}), caused by mutation in the NCF4 gene ({601488}) on chromosome 22q13; CGD4 ({233690}), caused by mutation in the CYBA gene ({608508}) on chromosome 16q24; and CGD5 ({618935}) caused by mutation in the CYBC1 gene ({618334}) on chromosome 17q25.\n\nA similar syndrome, termed neutrophil immunodeficiency syndrome ({608203}), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 ({602049}).\n\n{90:Roos et al. (2021)} provided a review of autosomal forms of chronic granulomatous disease.",[306400],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15295,Active,Orphanet+OMIM,OMIM:306950,Subtype of disorder,[Morphological anomaly subtype],"Hernia, anterior diaphragmatic",,"{2:Lilly et al. (1974)} described a family in which 2 brothers and their maternal uncle had congenital, anterior diaphragmatic hernia. Two of the 3 died in infancy of complications. {1:Crane (1979)} favored multifactorial inheritance with high male:female sex ratio. Twelve multiplex families were analyzed.",[306950],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15296,Active,Orphanet+OMIM,OMIM:307830,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, familial renal, due to tubular hypersecretion",,"Probenecid and pyrazinamide are the drugs most widely used in the evaluation of the renal handling of urate. By application of these drugs, three types of tubular defects responsible for renal hypouricemia have been identified ({1:De Vries and Sperling, 1979}). They include presecretory, postsecretory, and combined urate reabsorption in the kidney (see {220150}). A fourth type of renal hypouricemia was described by {5:Shichiri et al. (1982)}, {2:Dumont and Decaux (1983)}, and {4:Sanz et al. (1983)}. In this type of hypouricemia, responses of renal urate clearance to probenecid or pyrazinamide are normal, sometimes even exaggerated, and the hypouricemia appears to be due to tubular hypersecretion. {3:Nakajima et al. (1987)} described the familial occurrence of this form. Two brothers had hypouricemia and their mother had serum urate levels in the low normal range. Data were not provided on the father. It is noteworthy that the proband was a 36-year-old carpenter with eunuchoidism and a 48,XXYY karyotype. His brother and mother had normal karyotypes.",[307830],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15297,Active,Orphanet+OMIM,OMIM:308205,Subtype of disorder,[Disease subtype],"Ifap syndrome 1, with or without bresheck syndrome","[Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia]","The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by {13:Naiki et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of IFAP Syndrome\n\nIFAP syndrome-2 (IFAP2; {619016}) is caused by heterozygous mutation in the SREBF1 gene ({184756}) on chromosome 17p11.",[308205],[2273],[Ichthyosis follicularis-alopecia-photophobia syndrome],[2952],,,,, +GARD:15298,Active,Orphanet+OMIM,OMIM:308350,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 1,"[xmesid, ohtahara syndrome, x-linked, west syndrome, x-linked, infantile epileptic-dyskinetic encephalopathy, infantile spasm syndrome, x-linked 1, Epileptic encephalopathy, early infantile, 1]","Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG ({15:Kato et al., 2007}).\n\nDEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected ({14:Kato et al., 2004}; {25:Wallerstein et al., 2008}).\n\n<Subhead> Reviews\n\n{5:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Developmental and Epileptic Encephalopathy\n\nAlso see DEE2 ({300672}), caused by mutation in the CDKL5 gene ({300203}); DEE3 ({609304}), caused by mutation in the SLC25A22 gene ({609302}); DEE4 ({612164}), caused by mutation in the STXBP1 gene ({602926}); DEE5 ({613477}), caused by mutation in the SPTAN1 gene ({182810}); DEE6A ({607208}), also known as Dravet syndrome, caused by mutation in the SCN1A gene ({182389}); DEE6B ({619317}), also caused by mutation in the SCN1A gene; DEE7 ({613720}), caused by mutation in the KCNQ2 gene ({602235}); DEE8 ({300607}), caused by mutation in the ARHGEF9 gene ({300429}); DEE9 ({300088}), caused by mutation in the PCDH19 gene ({300460}); DEE10 ({613402}), caused by mutation in the PNKP gene ({605610}); DEE11 ({613721}), caused by mutation in the SCN2A gene ({182390}); DEE12 ({613722}), caused by mutation in the PLCB1 gene ({607120}); DEE13 ({614558}), caused by mutation in the SCN8A gene ({600702}); DEE14 ({614959}), caused by mutation in the KCNT1 gene ({608167}); DEE15 ({615006}), caused by mutation in the ST3GAL3 gene ({606494}); DEE16 ({615338}), caused by mutation in the TBC1D24 gene ({613577}); DEE17 ({615473}), caused by mutation in the GNAO1 gene ({139311}); DEE18 ({615476}), caused by mutation in the SZT2 gene ({615463}); DEE19 ({615744}), caused by mutation in the GABRA1 gene ({137160}); DEE20 ({300868}), caused by mutation in the PIGA gene ({311770}); DEE21 ({615833}), caused by mutation in the NECAP1 gene ({611623}); DEE22 ({300896}), caused by mutation in the SLC35A2 gene ({314375}); DEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); DEE24 ({615871}), caused by mutation in the HCN1 gene ({602780}); DEE25 ({615905}), caused by mutation in the SLC13A5 gene ({608305}); DEE26 ({616056}), caused by mutation in the KCNB1 gene ({600397}); DEE27 ({616139}), caused by mutation in the GRIN2B gene ({138252}); DEE28 ({616211}), caused by mutation in the WWOX gene ({605131}); DEE29 ({616339}), caused by mutation in the AARS gene ({601065}); DEE30 ({616341}), caused by mutation in the SIK1 gene ({605705}); DEE31 ({616346}), caused by mutation in the DNM1 gene ({602377}); DEE32 ({616366}), caused by mutation in the KCNA2 gene ({176262}); DEE33 ({616409}), caused by mutation in the EEF1A2 gene ({602959}); DEE34 ({616645}), caused by mutation in the SLC12A5 gene ({606726}); DEE35 ({616647}), caused by mutation in the ITPA gene ({147520}); DEE36 ({300884}), caused by mutation in the ALG13 gene ({300776}); DEE37 ({616981}), caused by mutation in the FRRS1L gene ({604574}); DEE38 ({617020}), caused by mutation in the ARV1 gene ({611647}); DEE39 ({612949}), caused by mutation in the SLC25A12 gene ({603667}); DEE40 ({617065}), caused by mutation in the GUF1 gene ({617064}); DEE41 ({617105}), caused by mutation in the SLC1A2 gene ({600300}); DEE42 ({617106}), caused by mutation in the CACNA1A gene ({601011}); DEE43 ({617113}), caused by mutation in the GABRB3 gene ({137192}); DEE44 ({617132}), caused by mutation in the UBA5 gene ({610552}); DEE45 ({617153}), caused by mutation in the GABRB1 gene ({137190}); DEE46 ({617162}), caused by mutation in the GRIN2D gene ({602717}); DEE47 ({617166}), caused by mutation in the FGF12 gene ({601513}); DEE48 ({617276}), caused by mutation in the AP3B2 gene ({602166}); DEE49 ({617281}), caused by mutation in the DENND5A gene ({617278}); DEE50 ({616457}) caused by mutation in the CAD gene ({114010}); DEE51 ({617339}), caused by mutation in the MDH2 gene ({154100}); DEE52 ({617350}), caused by mutation in the SCN1B gene ({600235}); DEE53 ({617389}), caused by mutation in the SYNJ1 gene ({604297}); DEE54 ({617391}), caused by mutation in the HNRNPU gene ({602869}); DEE55 ({617599}), caused by mutation in the PIGP gene ({605938}); DEE56 ({617665}), caused by mutation in the YWHAG gene ({605356}); DEE57 ({617771}), caused by mutation in the KCNT2 gene ({610044}); DEE58 ({617830}), caused by mutation in the NTRK2 gene ({600456}); DEE59 ({617904}), caused by mutation in the GABBR2 gene ({607340}); DEE60 ({617929}), caused by mutation in the CNPY3 gene ({610774}); DEE61 ({617933}), caused by mutation in the ADAM22 gene ({603709}); DEE62 ({617938}), caused by mutation in the SCN3A gene ({182391}); DEE63 ({617976}), caused by mutation in the CPLX1 gene ({605032}); DEE64 ({618004}), caused by mutation in the RHOBTB2 gene ({607352}); DEE65 ({618008}), caused by mutation in the CYFIP2 gene ({606323}); DEE66 ({618067}), caused by mutation in the PACS2 gene ({610423}); DEE67 ({618141}), caused by mutation in the CUX2 gene ({610648}); DEE68 ({618201}), caused by mutation in the TRAK1 gene ({608112}); DEE69 ({618285}), caused by mutation in the CACNA1E gene ({601013}); DEE70 ({618298}) caused by mutation in the PHACTR1 gene ({608723}); DEE71 ({618328}), caused by mutation in the GLS gene ({138280}); DEE72 ({618374}), caused by mutation in the NEUROD2 gene ({601725}); DEE73 ({618379}), caused by mutation in the RNF13 gene ({609247}); DEE74 ({618396}), caused by mutation in the GABRG2 gene ({137164}); DEE75 ({618437}), caused by mutation in the PARS2 gene ({612036}); DEE76 ({618468}), caused by mutation in the ACTL6B gene ({612458}); DEE77 ({618548}), caused by mutation in the PIGQ gene ({605754}); DEE78 ({618557}), caused by mutation in the GABRA2 gene ({137140}); DEE79 ({618559}), caused by mutation in the GABRA5 gene ({137142}); DEE80 ({618580}), caused by mutation in the PIGB gene ({604122}); DEE81 ({618663}), caused by mutation in the DMXL2 gene ({612186}); DEE82 ({618721}), caused by mutation in the GOT2 gene ({138150}); DEE83 ({618744}), caused by mutation in the UGP2 gene ({191760}); DEE84 ({618792}), caused by mutation in the UGDH gene ({603370}); DEE85 ({301044}), caused by mutation in the SMC1A gene ({300040}); DEE86 ({618910}), caused by mutation in the DALRD3 gene ({618904}); DEE87 ({618916}), caused by mutation in the CDK19 gene ({614720}); DEE88 ({618959}), caused by mutation in the MDH1 gene ({152400}); DEE89 ({619124}), caused by mutation in the GAD1 gene ({605363}); DEE90 ({301058}), caused by mutation in the FGF13 gene ({300070}); DEE91 ({617711}), caused by mutation in the PPP3CA gene ({114105}); DEE92 ({617829}), caused by mutation in the GABRB2 gene ({600232}); DEE93 ({618012}), caused by mutation in the ATP6V1A gene ({607027}); DEE94 ({615369}), caused by mutation in the CHD2 gene ({602119}); DEE95 ({618143}), caused by mutation in the PIGS gene ({610271}); DEE96 ({619340}), caused by mutation in the NSF gene ({601633}); DEE97 ({619561}), caused by mutation in the iCELF2 gene ({602538}); DEE98 ({619605}), caused by mutation in the ATP1A2 gene ({182340}); DEE99 ({619606}), caused by mutation in the ATP1A3 gene ({182350}); DEE100 ({619777}), caused by mutation in the FBXO28 gene ({609100}); DEE101 ({619814}), caused by mutation in the GRIN1 gene ({138249}); DEE102 ({619881}), caused by mutation in the SLC38A3 gene ({604437}); and DEE103 ({619913}), caused by mutation in the KCNC2 gene ({176256}).\n\nThe phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome ({606777}); glycine encephalopathy ({605899}); Aicardi-Goutieres syndrome ({225750}); and in males with MECP2 mutations ({300673}), among others.\n\nFor associations pending confirmation, see MOLECULAR GENETICS.",[308350],"[1934, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome]","[7887, 9255]",,,,, +GARD:15299,Active,Orphanet+OMIM,OMIM:308800,Subtype of disorder,[Disease subtype],"Keratosis follicularis spinulosa decalvans, x-linked",[Keratosis follicularis spinulosa decalvans cum ophiasi],"Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by {2:Castori et al., 2009}).\n\nAutosomal dominant inheritance has also been reported (KFSD; {612843}).\n\nThe term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.",[308800],[2340],[Keratosis follicularis spinulosa decalvans],[6829],,,,, +GARD:153,Legacy,GARD,,,,,,,,,,,,Sanderson Fraser syndrome,TRUE,FALSE,Active +GARD:1530,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy pigmentary anomaly malabsorption,TRUE,FALSE,Active +GARD:15300,Active,Orphanet+OMIM,OMIM:308905,Subtype of disorder,[Disease subtype],"Leber hereditary optic neuropathy, modifier of","[lhon, modifier of, Leber optic atrophy, susceptibility to]","Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; {535000}), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by {19:Yu et al., 2020}). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene ({516003.0001}) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease.\n\nFor a general description and discussion of genetic heterogeneity of Leber optic atrophy, see {535000}.",[308905],[104],[Leber hereditary optic neuropathy],[6870],,,,, +GARD:15301,Active,Orphanet+OMIM,OMIM:308990,Subtype of disorder,[Clinical subtype],"Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis",,"Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({11:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[308990],[93622],[Dent disease type 1],[1804],,,,, +GARD:15302,Active,Orphanet+OMIM,OMIM:309120,Subtype of disorder,[Disease subtype],"Spermatogenic failure, x-linked, 2",[Male infertility from defect in meiosis],,[309120],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15304,Active,Orphanet+OMIM,OMIM:309800,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, syndromic 1","[microphthalmia, syndromic 4, formerly, maa, formerly, anop1, formerly, lenz dysplasia, Lenz microphthalmia syndrome]","Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families ({17:Slavotinek et al., 2005}).\n\n<Subhead> Genetic Heterogeneity\n\nOther forms of syndromic microphthalmia include MCOPS2 ({300166}), caused by the BCOR gene ({300485}) on chromosome Xp11; MCOPS3 ({206900}), caused by mutation in the SOX2 gene ({184429}) on chromosome 3q26; MCOPS5 ({610125}), caused by mutation in the OTX2 gene ({600037}) on chromosome 14q22; MCOPS6 ({607932}), caused by mutation in the BMP4 gene ({112262}) on chromosome 14q22; MCOPS7 ({309801}), caused by mutation in the HCCS gene ({300056}) on chromosome Xp22; MCOPS9 ({601186}), caused by mutation in the STRA6 gene ({610745}) on chromosome 15q24; MCOPS11 ({614402}), caused by mutation in the VAX1 gene ({604294}) on chromosome 10q25; MCOPS12 ({615524}), caused by mutation in the RARB gene ({180220}) on chromosome 3p24; MCOPS13 ({300915}), caused by mutation in the HMGB3 gene ({300193}) on chromosome Xq28; MCOPS14 ({615877}), caused by mutation in the MAB21L2 gene ({604357}) on chromosome 4q31; and MCOPS15 ({615145}), caused by mutation in the TENM3 gene ({610083}) on chromosome 4q.\n\nA form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; {601349}). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; {611222}).\n\nA form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.\n\n{19:Williamson and FitzPatrick (2014)} reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 ({184429}) or OTX2 ({600037}) genes, or biallelic mutations in the STRA6 gene ({610745}) (see also MCOPS5, {610125} and MCOPS9, {601186}).",[309800],[568],"[Microphthalmia, Lenz type]",[87],,,,, +GARD:15305,Active,Orphanet+OMIM,OMIM:310468,Subtype of disorder,[Clinical subtype],"Nephrolithiasis, x-linked recessive, with renal failure","[nephrolithiasis 1, Nephrolithiasis, x-linked recessive, type 1, urolithiasis, x-linked recessive, type 1]","X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({6:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[310468],[93622],[Dent disease type 1],[1804],,,,, +GARD:15306,Active,Orphanet+OMIM,OMIM:310500,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1a","[hemeralopia-myopia, myopia-night blindness, Csnb, complete, x-linked, night blindness, congenital stationary, with myopia]","Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {33:Riazuddin et al., 2010}). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by {33:Riazuddin et al., 2010}).\n\n{37:Van Genderen et al. (2009)} noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, {300071}). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact.\n\n{9:Bijveld et al. (2013)} noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents.\n\n<Subhead> Genetic Heterogeneity of Congenital Stationary Night Blindness\n\nAutosomal recessive forms of complete CSNB have been reported: CSNB1B ({257270}), caused by mutation in the GRM6 gene ({604096}); CSNB1C ({613216}), caused by mutation in the TRPM1 gene ({603576}); CSNB1D ({613830}), caused by mutation in the SLC24A1 gene ({603617}); and CSNB1E ({614565}), caused by mutation in the GPR179 gene ({614515}); CSNB1F ({615058}), caused by mutation in the LRIT3 gene ({615004}); CSNB1G ({139330}), caused by mutation in the GNAT1 gene ({139330}); and CSNB1H ({617024}), caused by mutation in the GNB3 gene ({139130}).\n\nAutosomal dominant forms of complete CSNB that have been reported include CSNBAD1 ({610445}), caused by mutation in the RHO gene ({180380}); CSNBAD2 ({163500}), caused by mutation in the PDE6B gene ({180072}); and CSNBAD3 ({610444}), caused by mutation in the GNAT1 gene ({139330}).\n\nIn addition, an X-linked recessive form of incomplete CSNB (CSNB2A; {300071}), caused by mutation in the CACNA1F gene ({300110}), has been reported.\n\nA form of autosomal recessive CSNB in which all other visual functions are normal is designated Oguchi disease: Oguchi type 1 ({258100}) is caused by mutation in the SAG gene ({181031}), and Oguchi type 2 ({613411}) is caused by mutation in the RHOK gene (GRK1; {180381}).\n\nIn 101 Dutch patients from 72 families diagnosed with CSNB, {9:Bijveld et al. (2013)} screened 6 known CSNB-associated genes and identified mutations in 94 patients. Of the 39 patients with CSNB1, 20 (51%) had mutations in the NYX gene, 10 (26%) in TRPM1, 4 in GRM6, and 2 in GPR179; no mutations were detected in 3 of these patients. Of the 62 patients diagnosed with CSNB2, 55 (89%) had mutations in the CACNA1F gene; no mutations were detected in 4 of these patients. {9:Bijveld et al. (2013)} stated that the electrophysiologic distinction between CSNB types 1 and 2 was thus confirmed by DNA analysis in 93% of the patients. In addition, 3 patients from the CSNB cohort, including 2 Dutch sibs originally reported by {22:Littink et al. (2009)}, were found to be homozygous for a nonsense mutation in the CABP4 gene and to exhibit a distinct phenotype that {22:Littink et al. (2009)} designated 'congenital cone-rod synaptic disorder' (CRSD; {610427}).",[310500],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15308,Active,Orphanet+OMIM,OMIM:313350,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 2,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 ({183600}).",[313350],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15309,Active,Orphanet+OMIM,OMIM:314390,Subtype of disorder,[Malformation syndrome subtype],"Vacterl association, x-linked, with or without hydrocephalus","[Vacterl-h, x-linked]","VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H ({1:Briard et al., 1984}).",[314390],[3412],[VACTERL with hydrocephalus],[272],,,,, +GARD:1531,Active,Orphanet,ORPHA:3194,Disorder,[Malformation syndrome],Corneodermatoosseous syndrome,"[CDO syndrome, Stern-Lubinsky-Durrie syndrome]","A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.",[122440],,,,,Corneodermatoosseous syndrome,TRUE,FALSE,Active +GARD:15310,Active,Orphanet+OMIM,OMIM:400004,Subtype of disorder,[Disease subtype],"Retinitis pigmentosa, y-linked",,,[400004],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15311,Active,Orphanet+OMIM,OMIM:500001,Subtype of disorder,[Disease subtype],Leber optic atrophy and dystonia,"[Leber hereditary optic neuropathy with dystonia, marsden syndrome, dystonia, familial, with visual failure and striatal lucencies]",,[500001],[99718],[Leber plus disease],[8476],,,,, +GARD:15312,Active,Orphanet+OMIM,OMIM:500011,Subtype of disorder,[Disease subtype],"Myopathy, lactic acidosis, and sideroblastic anemia 3",,"MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by {1:Burrage et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).",[500011],[2598],[Mitochondrial myopathy and sideroblastic anemia],[3885],,,,, +GARD:15313,Active,Orphanet+OMIM,OMIM:598500,Subtype of disorder,[Disease subtype],"Wolfram syndrome, mitochondrial form","[didmoad syndrome, mitochondrial form, Diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form]",,[598500],[3463],[Wolfram syndrome],[7898],,,,, +GARD:15314,Active,Orphanet+OMIM,OMIM:600110,Subtype of disorder,[Disease subtype],Stargardt disease 3,"[Macular dystrophy with flecks, type 3, stargardt-like macular dystrophy, autosomal dominant]","Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects ({1:Bernstein et al., 2001}; {7:Maugeri et al., 2004}).",[600110],[827],[Stargardt disease],[181],,,,, +GARD:15315,Active,Orphanet+OMIM,OMIM:600155,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 2",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[600155],[388],[Hirschsprung disease],[6660],,,,, +GARD:15316,Active,Orphanet+OMIM,OMIM:600156,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 5",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[600156],[388],[Hirschsprung disease],[6660],,,,, +GARD:15317,Active,Orphanet+OMIM,OMIM:600416,Subtype of disorder,[Disease subtype],"Muscular dystrophy, scapulohumeral",,"{1:Jardine et al. (1994)} described 7 affected individuals, 3 men and 4 women, in a 2-generation family segregating a scapulohumeral muscular dystrophy. Weakness began in the shoulders between 12 and 40 years of age. There was no distal weakness in the upper or lower extremities and there were no sensory abnormalities. In several cases, there was marked asymmetry with weakness on the right side more than on the left. There was no demonstrable facial weakness in any of the affected individuals. Male-to-male transmission was not observed. There was only minimal elevation of creatine kinase in some individuals. Electromyography demonstrated low amplitude, short duration, and polyphasic units. Muscle biopsy demonstrated excessive variation of muscle fiber size and scattered fibers with internal nuclei, but there was no fiber type grouping on ATPase preparations. There were no contractures or dysarthria, distinguishing this syndrome from autosomal dominant limb-girdle dystrophy ({253600}) which typically begins with symptoms in the lower extremities. The absence of cardiomyopathy and contractures distinguished this disorder from Emery-Dreifuss muscular dystrophy ({310300}; {181350}). The existence of scapuloperoneal myopathy without contractures or cardiomyopathy as a separate condition from facioscapulohumeral dystrophy (FSHD; {158900}) has been debated. {1:Jardine et al. (1994)} pointed out the features of their cases were similar to those of FSHD except for the absence of facial weakness. Minimally affected patients with FSHD are best detected by the presence of facial weakness. In 1 large study of FSHD, the facial weakness was absent in only 2 of 113 individuals ({2:Lunt and Harper, 1991}). In the family of {1:Jardine et al. (1994)}, linkage analysis with markers D4S184, D4S139, and D4F104S1 yielded a maximum lod score of 1.61 at theta = 0.01. This suggested that the locus for scapulohumeral dystrophy may be the same as that for facioscapulohumeral dystrophy.",[600416],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15319,Active,Orphanet+OMIM,OMIM:600513,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 1",,"Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families ({3:Hayman et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy\n\nNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 ({603204}), which maps to chromosome 15q24; ENFL3 ({605375}), caused by mutation in the CHRNB2 gene ({118507}) on chromosome 1q21; ENFL4 ({610353}), caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21; and ENFL5 ({615005}), caused by mutation in the KCNT1 gene ({608167}) on chromosome 9q34.\n\nNocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; {604364}), caused by mutation in the DEPDC5 gene ({614191}) on chromosome 22q12.",[600513],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:1532,Legacy,GARD,,,,,,,,,,,,"Coronal synostosis, syndactyly and jejunal atresia",TRUE,FALSE,Active +GARD:15320,Active,Orphanet+OMIM,OMIM:600630,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 1,,"UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {3:Horibata et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of UV-Sensitive Syndrome\n\nSee also UVSS2 ({614621}), caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q12, and UVSS3 ({614640}), caused by mutation in the UVSSA gene ({614632}) on chromosome 4p16.",[600630],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15321,Active,Orphanet+OMIM,OMIM:600638,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement",[Feom3 locus],"Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 ({135700}). CFEOM2 ({602078}) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by {9:Yamada et al., 2004} and {4:Heidary et al., 2008}).\n\n{8:Yamada et al. (2003)} concluded that CFEOM3 is a relatively rare form of CFEOM.\n\n<Subhead> Genetic Heterogeneity of CFEOM3\n\nThe CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B ({135700}), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C ({609384}), which maps to chromosome 13q.",[600638],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15322,Active,Orphanet+OMIM,OMIM:600795,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 7,"[Amyotrophic lateral sclerosis 17, formerly, frontotemporal dementia, chromosome 3-linked, amyotrophic lateral sclerosis, chmp2b-related]","Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. Pathology typically shows UBB ({191339}), p62/sequestosome (SQSTM1; {601530}), and TDP43 ({605078})-immunoreactive intraneuronal inclusions (summary by {1:Brown et al., 1995} and {4:Cox et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[600795],"[275864, 803]","[Behavioral variant of frontotemporal dementia, Amyotrophic lateral sclerosis]","[7392, 5786]",,,,, +GARD:15323,Active,Orphanet+OMIM,OMIM:600884,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1b",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[600884],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15324,Active,Orphanet+OMIM,OMIM:600901,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group e",[Face],"Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by {2:de Winter et al., 2000}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[600901],[84],[Fanconi anemia],[6425],,,,, +GARD:15325,Active,Orphanet+OMIM,OMIM:600903,Subtype of disorder,[Disease subtype],"Wiskott-aldrich syndrome, autosomal dominant",,,[600903],[906],[Wiskott-Aldrich syndrome],[7895],,,,, +GARD:15326,Active,Orphanet+OMIM,OMIM:600995,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 2","[Nephrotic syndrome, steroid-resistant, autosomal recessive]","Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by {6:Fuchshuber et al., 1996}). Some patients show later onset of the disorder ({13:Tsukaguchi et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[600995],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15327,Active,Orphanet+OMIM,OMIM:601202,Subtype of disorder,[Clinical subtype],Cataract 24,,"Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision ({3:Moross et al., 1984}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'",[601202],[98988],[Early-onset anterior polar cataract],[1140],,,,, +GARD:15328,Active,Orphanet+OMIM,OMIM:601363,Subtype of disorder,[Disease subtype],Wilms tumor 4,,"For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[601363],[654],[Nephroblastoma],[7892],,,,, +GARD:15329,Active,Orphanet+OMIM,OMIM:601399,Subtype of disorder,[Disease subtype],"Platelet disorder, familial, with associated myeloid malignancy","[Platelet disorder, aspirin-like, thrombocytopenia, familial, with propensity to acute myelogenous leukemia]",,[601399],[71290],[Familial platelet disorder with associated myeloid malignancy],[10352],,,,, +GARD:1533,Active,Orphanet,ORPHA:2041,Disorder,[Morphological anomaly],Coronary arterial fistula,,Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.,,,,,,Coronaro-cardiac fistula,TRUE,FALSE,Active +GARD:15330,Active,Orphanet+OMIM,OMIM:601462,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 1a, slow-channel","[cms iia, formerly, Myasthenic syndrome, congenital, type iia, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by {5:Engel et al., 2003}; {7:Engel et al., 2015}). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency ({5:Engel et al., 2003}).\n\nSlow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {7:Engel et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Congenital Myasthenic Syndromes\n\nRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS ({11:Harper, 2004}). CMS1A and CMS1B ({608930}) are caused by mutation in the CHRNA1 gene ({100690}); CMS2A ({616313}) and CMS2C ({616314}) are caused by mutation in the CHRNB1 gene ({100710}) on 17p12; CMS3A ({616321}), CMS3B ({616322}), and CMS3C ({616323}) are caused by mutation in the CHRND gene ({100720}) on 2q33; and CMS4A ({605809}), CMS4B ({616324}), and CMS4C ({608931}) are caused by mutation in the CHRNE gene ({100725}) on 17p13.\n\nCMS5 ({603034}) is caused by mutation in the COLQ gene ({603033}) on 3p25; CMS6 ({254210}) is caused by mutation in the CHAT gene ({118490}) on 10q; CMS7 ({616040}) is caused by mutation in the SYT2 gene ({600104}) on 1q32; CMS8 ({615120}) is caused by mutation in the AGRN gene ({103320}) on 1p; CMS9 ({616325}) is caused by mutation in the MUSK gene ({601296}) on 9q31; CMS10 ({254300}) is caused by mutation in the DOK7 gene ({610285}) on 4p; CMS11 ({616326}) is caused by mutation in the RAPSN gene ({601592}) on 11p11; CMS12 ({610542}) is caused by mutation in the GFPT1 gene ({138292}) on 2p14; CMS13 ({614750}) is caused by mutation in the DPAGT1 gene ({191350}) on 11q23; CMS14 ({616228}) is caused by mutation in the ALG2 gene ({607905}) on 9q22; CMS15 ({616227}) is caused by mutation in the ALG14 gene ({612866}) on 1p21; CMS16 ({614198}) is caused by mutation in the SCN4A gene ({603967}) on 17q; CMS17 ({616304}) is caused by mutation in the LRP4 gene ({604270}) on 11p12; CMS18 ({616330}) is caused by mutation in the SNAP25 gene ({600322}) on 20p11; CMS19 ({616720}) is caused by mutation in the COL13A1 gene ({120350}) on 10q22; CMS20 ({617143}) is caused by mutation in the SLC5A7 gene ({608761}) on 2q12; CMS21 ({617239}) is caused by mutation in the SLC18A3 gene ({600336}) on 10q11; CMS22 ({616224}) is caused by mutation in the PREPL gene ({609557}) on 2p21; CMS23 ({618197}) is caused by mutation in the SLC25A1 gene ({190315}) on 22q11; CMS24 ({618198}) is caused by mutation in the MYO9A gene ({604875}) on 15q22; and CMS25 ({618323}) is caused by mutation in the VAMP1 gene ({185880}) on 12p13.",[601462],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15331,Active,Orphanet+OMIM,OMIM:601493,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction",,,[601493],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15332,Active,Orphanet+OMIM,OMIM:601494,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1d","[Left ventricular noncompaction 6, included]",,[601494],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15334,Active,Orphanet+OMIM,OMIM:601518,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 1",[Prca1],,[601518],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15335,Active,Orphanet+OMIM,OMIM:601547,Subtype of disorder,"[Clinical subtype, Malformation syndrome subtype]","Cataract 3, multiple types","[Cataract 3, multiple types, with or without microcornea, cataract, congenital, cerulean type, 2]","Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.\n\nBefore it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.",[601547],"[1377, 98994]","[Cataract-microcornea syndrome, Total early-onset cataract]","[1155, 1159]",,,,, +GARD:15336,Active,Orphanet+OMIM,OMIM:601583,Subtype of disorder,[Disease subtype],Wilms tumor 5,"[Wilms tumor, susceptibility to]",,[601583],[654],[Nephroblastoma],[7892],,,,, +GARD:15337,Active,Orphanet+OMIM,OMIM:601813,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 4,,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780}).",[601813],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:1534,Active,Orphanet,ORPHA:1081,Group of disorders,[Category],Coronary artery congenital malformation,,,,,,,,Coronary arteries congenital malformation,TRUE,FALSE,Active +GARD:15340,Active,Orphanet+OMIM,OMIM:601992,Subtype of disorder,[Disease subtype],Friedreich ataxia 2,,"Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by {2:Delatycki et al., 2000}).\n\nFor a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 ({229300}), which is caused by mutation in the FXN gene ({606829}) on chromosome 9q13.",[601992],[95],[Friedreich ataxia],[6468],,,,, +GARD:15341,Active,Orphanet+OMIM,OMIM:602078,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 2","[Feom2 locus, fibrosis of extraocular muscles, congenital, autosomal recessive]","Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) ({3:Wang et al., 1998}, {2:Nakano et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 ({135700}).",[602078],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15342,Active,Orphanet+OMIM,OMIM:602093,Subtype of disorder,[Disease subtype],Cone dystrophy 3,[Retinal cone dystrophy],"Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene ({5:Michaelides et al., 2006}).\n\nIntrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage ({1:Chen et al., 2017}).",[602093],[1871],[Progressive cone dystrophy],[11897],,,,, +GARD:15343,Active,Orphanet+OMIM,OMIM:602099,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 5, juvenile",,"Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by {3:Orlacchio et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400}).",[602099],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15344,Active,Orphanet+OMIM,OMIM:602114,Subtype of disorder,[Disease subtype],"Nephropathy, progressive tubulointerstitial, with cholestatic liver disease",,,[602114],[171],[Primary sclerosing cholangitis],[1280],,,,, +GARD:15346,Active,Orphanet+OMIM,OMIM:602483,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 1,[Question mark ears syndrome],"Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by {7:Masotti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Auriculocondylar Syndrome\n\nAuriculocondylar syndrome-2 (ARCND2; {614669}) is caused by mutation in the PLCB4 gene ({600810}) on chromosome 20p12.3-p12.2. ARCND3 ({615706}) is caused by mutation in the EDN1 gene ({131240}) on chromosome 6p24.\n\nSee also {612798} for isolated question mark ears.",[602483],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15347,Active,Orphanet+OMIM,OMIM:602497,Subtype of disorder,[Malformation syndrome subtype],"Chondrodysplasia punctata, brachytelephalangic, autosomal",[Brachytelephalangic chondrodysplasia punctata],"For a general phenotypic description and discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 ({302960}).",[602497],[79345],[Brachytelephalangic chondrodysplasia punctata],[1296],,,,, +GARD:15348,Active,Orphanet+OMIM,OMIM:602522,Subtype of disorder,[Clinical subtype],"Bartter syndrome, type 4a, neonatal, with sensorineural deafness","[Bartter syndrome, neonatal, with sensorineural deafness]","Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({11:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {12:Simon et al., 1996} and {3:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.",[602522],[89938],[Bartter syndrome type 4],[10508],,,,, +GARD:15349,Active,Orphanet+OMIM,OMIM:602540,Subtype of disorder,[Disease subtype],"Ichthyosis, hystrix-like, with deafness",[Hid syndrome],,[602540],[477],[KID syndrome],[3113],,,,, +GARD:1535,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis,TRUE,FALSE,Active +GARD:15350,Active,Orphanet+OMIM,OMIM:602722,Subtype of disorder,[Clinical subtype],"Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",[Rtadr],,[602722],[402041],[Autosomal recessive distal renal tubular acidosis],[4666],,,,, +GARD:15351,Active,Orphanet+OMIM,OMIM:602759,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 8",,"For a general discussion of hereditary prostate cancer, see {176807}.",[602759],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15352,Active,Orphanet+OMIM,OMIM:603204,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 2",,"Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations (summary by {1:Derry et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513}).",[603204],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15353,Active,Orphanet+OMIM,OMIM:603278,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 1,"[Glomerulosclerosis, focal segmental, 1]","Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by {4:D'Agati et al., 2004}; {10:Mathis et al., 1998}).\n\n{5:D'Agati et al. (2011)} provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.\n\nBecause of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.\n\n<Subhead> Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome\n\nFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 ({603965}), caused by mutation in the TRPC6 gene ({603652}); FSGS3 ({607832}), associated with variation in the CD2AP gene ({604241}); FSGS4 ({612551}), mapped to chromosome 22q12; FSGS5 ({613237}), caused by mutation in the INF2 gene ({610982}); FSGS6 ({614131}), caused by mutation in the MYO1E gene ({601479}); FSGS7 ({616002}), caused by mutation in the PAX2 gene ({167409}); FSGS8 ({616032}), caused by mutation in the ANLN gene ({616027}); FSGS9 ({616220}), caused by mutation in the CRB2 gene ({609720}); and FSGS10 ({256020}), caused by mutation in the LMX1B gene ({602575}).\n\nSee also NPHS1 ({256300}), caused by mutation in the NPHS1 gene ({602716}); NPHS2 ({600995}), caused by mutation in the podocin gene ({604766}); NPHS3 ({610725}), caused by mutation in the PLCE1 gene ({608414}); NPHS4 ({256370}), caused by mutation in the WT1 gene ({607102}); NPHS5 ({614199}), caused by mutation in the LAMB2 gene ({150325}); NPHS6 ({614196}), caused by mutation in the PTPRO gene ({600579}); NPHS7 ({615008}), caused by mutation in the DGKE gene ({601440}); NPHS8 ({615244}), caused by mutation in the ARHGDIA gene ({601925}); NPHS9 ({615573}), caused by mutation in the COQ8B gene ({615567}); NPHS10 ({615861}), caused by mutation in the EMP2 gene ({602334}); NPHS11 ({616730}), caused by mutation in the NUP107 gene ({607617}); NPHS12 ({616892}), caused by mutation in the NUP93 gene ({614351}); NPHS13 ({616893}), caused by mutation in the NUP205 gene ({614352}); NPHS14 ({617575}), caused by mutation in the SGPL1 gene ({603729}); NPHS15 ({617609}), caused by mutation in the MAGI2 gene ({606382}); NPHS16 ({617783}), caused by mutation in the KANK2 gene ({614610}), NPHS17 ({618176}), caused by mutation in the NUP85 gene ({170285}); NPHS18 ({618177}), caused by mutation in the NUP133 gene ({607613}); NPHS19 ({618178}), caused by mutation in the NUP160 gene ({607614}); NPHS20 ({301028}), caused by mutation in the TBC1D8B gene ({301027}); and NPHS21 ({618594}) caused by mutation in the AVIL gene ({613397}).",[603278],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15354,Active,Orphanet+OMIM,OMIM:603386,Subtype of disorder,[Disease subtype],"Thyroid carcinoma, nonmedullary, with or without cell oxyphilia",,"The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart.\n\nOne peculiar form of thyroid tumors is characterized by the presence of cell oxyphilia. Oxophil cells are found in a minority of thyroid tumors, either benign or malignant. These cells show a large volume of granular eosinophilic cytoplasm and are very rich in mitochondria. The familial occurrence of thyroid tumors with cell oxyphilia was reported by {4:Katoh et al. (1998)}. {2:Canzian et al. (1998)} reported such a family with affected members in 3 generations and by linkage analysis mapped the gene to 19p13.\n\nFor general phenotypic information and a discussion of genetic heterogeneity of NMTC, see {188550}.",[603386],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15355,Active,Orphanet+OMIM,OMIM:603467,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group f",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nClinical features of FANCF include microcephaly, small or absent thumbs, short stature, microphthalmia, microtia, hearing loss, pigmentary anomalies (cafe-au-lait spots or hyperpigmentation), small or pelvic kidneys, and cardiac anomalies ({3:Tryon et al., 2017}; {4:Zareifar et al., 2019}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[603467],[84],[Fanconi anemia],[6425],,,,, +GARD:15356,Active,Orphanet+OMIM,OMIM:603649,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 7,,,[603649],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15357,Active,Orphanet+OMIM,OMIM:603688,Subtype of disorder,[Disease subtype],Prostate cancer/brain cancer susceptibility,"[Pcbc, capb]",,[603688],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15358,Active,Orphanet+OMIM,OMIM:603744,Subtype of disorder,[Disease subtype],Papillary thyroid microcarcinoma,,"The familial type of medullary thyroid carcinoma ({155240}) is a well-defined clinical entity. However, much less is known about the familial occurrence of differentiated thyroid carcinoma. Two patterns of presentation had been described for familial differentiated thyroid cancer: a pattern associated with an inherited tumor syndrome such as Gardner syndrome (APC; {175100}) and Cowden disease ({158350}), and a second pattern of familial aggregation without other associated neoplasms. A further classification of thyroid tumors is based on size: papillary microcarcinoma of the thyroid is defined as a papillary carcinoma measuring 1.0 cm or less in diameter. This group of patients has been thought to be a specific low-risk category with a favorable prognosis ({1:Hay et al., 1992}). {2:Lupoli et al. (1999)} identified a family history of thyroid carcinoma in 7 of 119 patients with papillary thyroid microcarcinoma. The tumor was multifocal in 5 patients, bilateral in 3, and showed vascular invasion in 3 of the 7 patients. Lymph node metastases were found in 4 patients. Three patients had a recurrence and 1 patient with pulmonary metastases died within 11 months. Thus, familial occurrence was observed in 5.9% of cases, together with an unfavorable behavior of the familial form of the disorder.",[603744],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15359,Active,Orphanet+OMIM,OMIM:603786,Subtype of disorder,[Disease subtype],Stargardt disease 4,,"Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see {248200}), but STGD4 is inherited as an autosomal dominant trait (summary by {2:Kniazeva et al., 1999}).",[603786],[827],[Stargardt disease],[181],,,,, +GARD:1536,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis double urinary collecting,TRUE,FALSE,Active +GARD:15360,Active,Orphanet+OMIM,OMIM:603802,Subtype of disorder,[Etiological subtype],Microcephaly with simplified gyral pattern,,,[603802],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15361,Active,Orphanet+OMIM,OMIM:603909,Subtype of disorder,[Disease subtype],"Autoimmune lymphoproliferative syndrome, type iia","[Autoimmune lymphoproliferative syndrome, type ii]",,[603909],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:15362,Active,Orphanet+OMIM,OMIM:603965,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 2,"[Glomerulosclerosis, focal segmental, 2]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by {1:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 ({603278}).",[603965],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15363,Active,Orphanet+OMIM,OMIM:604145,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1g",,"Dilated cardiomyopathy-1G (CMD1G) is an autosomal dominant disorder characterized by ventricular dilatation and systolic contractile dysfunction ({5:Siu et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A ({115200}).",[604145],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15364,Active,Orphanet+OMIM,OMIM:604219,Subtype of disorder,[Malformation syndrome subtype],"Cataract 9, multiple types","[cataract, autosomal recessive congenital 1, cataract, autosomal dominant, Cataract 9, multiple types, with or without microcornea]","Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.",[604219],[1377],[Cataract-microcornea syndrome],[1155],,,,, +GARD:15365,Active,Orphanet+OMIM,OMIM:604288,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1h",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[604288],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15366,Active,Orphanet+OMIM,OMIM:604317,Subtype of disorder,[Etiological subtype],"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",,"Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology ({4:Hofman, 1984}). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by {9:Yu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[604317],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15367,Active,Orphanet+OMIM,OMIM:604321,Subtype of disorder,[Etiological subtype],"Microcephaly 4, primary, autosomal recessive",,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by {5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[604321],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15368,Active,Orphanet+OMIM,OMIM:604348,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 1",,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Advanced Sleep Phase Syndrome\n\nSee also FASPS2 ({615224}), caused by mutation in the CSNK1D gene ({600864}) on chromosome 17q25, and FASPS3 ({616882}), caused by mutation in the PER3 gene ({603427}) on chromosome 1p36.",[604348],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:1537,Active,Orphanet,ORPHA:1496,Disorder,[Disease],Corpus callosum agenesis-neuronopathy syndrome,"[Andermann syndrome, Charlevoix disease]","Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.",[218000],,,,,Andermann syndrome,TRUE,FALSE,Active +GARD:15370,Active,Orphanet+OMIM,OMIM:604547,Subtype of disorder,[Malformation syndrome subtype],"Van der woude syndrome 1, modifier of",[Vwsm],,[604547],[888],[Van der Woude syndrome],[8414],,,,, +GARD:15372,Active,Orphanet+OMIM,OMIM:604765,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1i",,,[604765],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15373,Active,Orphanet+OMIM,OMIM:604804,Subtype of disorder,[Etiological subtype],"Microcephaly 3, primary, autosomal recessive",,,[604804],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15374,Active,Orphanet+OMIM,OMIM:604928,Subtype of disorder,[Disease subtype],Wolfram syndrome 2,,"Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by {4:Mozzillo et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 ({222300}).",[604928],[3463],[Wolfram syndrome],[7898],,,,, +GARD:15375,Active,Orphanet+OMIM,OMIM:604931,Subtype of disorder,[Malformation syndrome subtype],Cortisone reductase deficiency 1,,"Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; {600713}). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; {138090}) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {5:Lavery et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Cortisone Reductase Deficiency\n\nCORTRD2 ({614662}) is caused by mutation in the HSD11B1 gene ({600713}) on chromosome 1q32.",[604931],[168588],[Hyperandrogenism due to cortisone reductase deficiency],[9882],,,,, +GARD:15376,Active,Orphanet+OMIM,OMIM:605019,Subtype of disorder,[Disease subtype],"Hypobetalipoproteinemia, familial, 2","[Hypolipidemia, familial, combined]","Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; {246700}), abetalipoproteinemia ({200100}), and familial hypobetalipoproteinemia (FHBL) (summary by {4:Martin-Campos et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 ({615558}).",[605019],[14],[Abetalipoproteinemia],[5],,,,, +GARD:15377,Active,Orphanet+OMIM,OMIM:605244,Subtype of disorder,[Disease subtype],"Carney complex, type 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of Carney complex, see CNC1 ({160980}).",[605244],[1359],[Carney complex],[1119],,,,, +GARD:15378,Active,Orphanet+OMIM,OMIM:605289,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 4,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting ({1:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[605289],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15379,Active,Orphanet+OMIM,OMIM:605293,Subtype of disorder,[Disease subtype],Optic atrophy 4,,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[605293],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:1538,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis of blepharophimosis Robin type,TRUE,FALSE,Active +GARD:15380,Active,Orphanet+OMIM,OMIM:605375,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 3",,,[605375],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15381,Active,Orphanet+OMIM,OMIM:605549,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 8,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}.",[605549],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15382,Active,Orphanet+OMIM,OMIM:605582,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1k",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[605582],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15383,Active,Orphanet+OMIM,OMIM:605594,Subtype of disorder,[Clinical subtype],"Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1","[dfna39/dgi1 syndrome, Dfna39/dentinogenesis imperfecta 1 syndrome, dgi1/dfna39 syndrome]",,[605594],[166260],[Dentinogenesis imperfecta type 2],[12796],,,,, +GARD:15384,Active,Orphanet+OMIM,OMIM:605672,Subtype of disorder,[Disease subtype],Cerebellar ataxia and hypergonadotropic hypogonadism,,"{1:Amor et al. (2001)} described 2 sisters with onset of progressive cerebellar ataxia at the age of 16 and 32 years, respectively, and secondary amenorrhea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present. Intellect was normal. The authors referred to reports that may represent the same disorder, e.g., that of {2:Skre et al. (1976)}. Cerebellar ataxia and hypogonadotropic hypogonadism is discussed elsewhere; see {212840}.",[605672],[1173],[Cerebellar ataxia-hypogonadism syndrome],[3314],,,,, +GARD:15385,Active,Orphanet+OMIM,OMIM:605738,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 2",,"For a discussion of genetic heterogeneity of isolated colobomatous microphthalmia, see MCOPCB1 ({300345}).",[605738],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15386,Active,Orphanet+OMIM,OMIM:605750,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 3,,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780}).",[605750],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15387,Active,Orphanet+OMIM,OMIM:605809,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4a, slow-channel","[Congenital myasthenic syndrome type ia1, formerly, cms ia1, formerly]","Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[605809],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15388,Active,Orphanet+OMIM,OMIM:605841,Subtype of disorder,[Disease subtype],"Narcolepsy 2, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[605841],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15389,Active,Orphanet+OMIM,OMIM:606002,Subtype of disorder,[Disease subtype],"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","[ataxia-ocular apraxia 2, Ataxia-oculomotor apraxia 2, spinocerebellar ataxia, autosomal recessive 1, formerly]","Autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; {104150}). Oculomotor apraxia is a common but inconsistent finding, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2) ({14:Moreira et al., 2004}; summary by {11:Ichikawa et al., 2013}).\n\n{9:Duquette et al. (2005)} emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 ({607250}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).\n\nFor a discussion of genetic heterogeneity of SCAN, see SCAN1 ({607250}).",[606002],[64753],[Spinocerebellar ataxia with axonal neuropathy type 2],[12860],,,,, +GARD:15390,Active,Orphanet+OMIM,OMIM:606164,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 15 with mandibulofacial dysostosis,,,[606164],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15391,Active,Orphanet+OMIM,OMIM:606240,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 3",,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis {175100}, Carney complex {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {4:Vriens et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[606240],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15392,Active,Orphanet+OMIM,OMIM:606391,Subtype of disorder,[Disease subtype],Maturity-onset diabetes of the young,[Mason-type diabetes],"Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity ({18:Vaxillaire and Froguel, 2008}).\n\n<Subhead> Genetic Heterogeneity of MODY\n\nMODY1 ({125850}) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; {600281}) on chromosome 20.\n\nMODY2 ({125851}) is caused by heterozygous mutation in the glucokinase gene (GCK; {138079}) on chromosome 7.\n\nMODY3 ({600496}) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; {142410}) on chromosome 12q24.2.\n\nMODY4 ({606392}) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; {600733}) on chromosome 13q12.1.\n\nMODY5 ({137920}) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; {189907}) on chromosome 17cen-q21.3.\n\nMODY6 ({606394}) is caused by heterozygous mutation in the NEUROD1 gene ({601724}) on chromosome 2q32.\n\nMODY7 ({610508}) is caused by heterozygous mutation in the KLF11 gene ({603301}) on chromosome 2p25.\n\nMODY8 ({609812}), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene ({114840}) on chromosome 9q34.\n\nMODY9 ({612225}) is caused by heterozygous mutation in the PAX4 gene ({167413}) on chromosome 7q32.\n\nMODY10 ({613370}) is caused by heterozygous mutation in the insulin gene (INS; {176730}) on chromosome 11p15.5.\n\nMODY11 ({613375}) is caused by heterozygous mutation in the BLK gene ({191305}) on chromosome 8p23.\n\nMODY13 ({616329}) is caused by heterozygous mutation in the KCNJ11 gene ({600937}) on chromosome 11p15.\n\nMODY14 ({616511}) is caused by heterozygous mutation in the APPL1 gene ({604299}) on chromosome 3p14.",[606391],[552],[MODY],[3697],,,,, +GARD:15393,Active,Orphanet+OMIM,OMIM:606545,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 3","[Collodion baby, self-healing, ichthyosis, lamellar, 5, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({9:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[606545],"[281122, 79394, 313]","[Lamellar ichthyosis, Self-improving collodion baby, Congenital non-bullous ichthyosiform erythroderma]","[10803, 9736, 17303]",,,,, +GARD:15394,Active,Orphanet+OMIM,OMIM:606660,Subtype of disorder,[Disease subtype],"Melanoma, uveal, susceptibility to, 1",,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {1:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. {1:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1, and a second on 3p25, here designated UVM2 ({606661}). The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.",[606660],[39044],[Uveal melanoma],[8621],,,,, +GARD:15395,Active,Orphanet+OMIM,OMIM:606661,Subtype of disorder,[Disease subtype],"Melanoma, uveal, susceptibility to, 2",,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {2:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. This SRO did not overlap with the von Hippel-Lindau disease gene ({608537}). {2:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1 ({606660}), and a second on 3p25, here designated UVM2. The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.\n\n{1:Parrella et al. (2003)} mapped both arms of chromosome 3 in 21 uveal melanomas that did not show monosomy 3 in previous allelotype studies. DNA was isolated from microdissected paraffin sections of posterior uveal melanoma treated by enucleation from 1993 to 1998 and archived by the Eye Pathology Laboratory of the Wilmer Ophthalmologic Institute, Johns Hopkins. In an initial screening, 14 microsatellite markers on 3p and 13 on 3q were used. Loss of heterozygosity for at least 1 marker was found in 9 of 21 tumors (43%) on 3p and 8 of 21 tumors (38%) on 3q. Two common regions of allelic loss on 3p were further mapped with an additional 14 microsatellite markers. A 1.4-Mb minimal region of allelic loss was identified between microsatellite markers D3S3610 and D3S1554 on 3p25.2-p25.1. Ten tumors had allelic loss in this region; 2 of these tumors had corresponding putative homozygous deletions.",[606661],[39044],[Uveal melanoma],[8621],,,,, +GARD:15396,Active,Orphanet+OMIM,OMIM:606662,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2c",,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Selicorni et al., 2002}). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[606662],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15397,Active,Orphanet+OMIM,OMIM:606685,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1l",,"Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A ({115200}).",[606685],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15398,Active,Orphanet+OMIM,OMIM:606708,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 5,,"Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[606708],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15399,Active,Orphanet+OMIM,OMIM:606744,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 2,"[microcephalic primordial dwarfism 2, Seckel-type dwarfism 2]","Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance ({1:Borglum et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600}).",[606744],[808],[Seckel syndrome],[8562],,,,, +GARD:154,Legacy,GARD,,,,,,,,,,,,Sandhaus Ben-Ami syndrome,TRUE,FALSE,Active +GARD:15400,Active,Orphanet+OMIM,OMIM:606763,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 2","[Ciliary dyskinesia, primary, 2, with or without situs inversus]",,[606763],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15401,Active,Orphanet+OMIM,OMIM:606856,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 1",[Pnca1],,[606856],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15402,Active,Orphanet+OMIM,OMIM:606874,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 6",,"The disorder described by {4:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[606874],[388],[Hirschsprung disease],[6660],,,,, +GARD:15403,Active,Orphanet+OMIM,OMIM:606875,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 7",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[606875],[388],[Hirschsprung disease],[6660],,,,, +GARD:15404,Active,Orphanet+OMIM,OMIM:606943,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ig",,"Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 ({276900}), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe.",[606943],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15405,Active,Orphanet+OMIM,OMIM:606995,Subtype of disorder,[Disease subtype],Senior-loken syndrome 3,,"For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.",[606995],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15406,Active,Orphanet+OMIM,OMIM:606996,Subtype of disorder,[Disease subtype],Senior-loken syndrome 4,,,[606996],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15407,Active,Orphanet+OMIM,OMIM:607004,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, b",,"For a general phenotypic description and discussion of genetic heterogeneity of type A1 brachydactyly, see BDA1 ({112500}).",[607004],[93388],[Brachydactyly type A1],[978],,,,, +GARD:15408,Active,Orphanet+OMIM,OMIM:607086,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 1",,"Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm ({100070}) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.\n\nMedial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome ({154700}), and vascular (type IV) Ehlers-Danlos syndrome ({130050}). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.\n\n<Subhead> Genetic Heterogeneity of Thoracic Aortic Aneurysm\n\nLoci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; {607087}). Mutation in the MYH11 gene ({160745}) on chromosome 16p causes AAT4 ({132900}). Mutation in the ACTA2 gene ({102620}) on chromosome 10q causes AAT6 ({611788}). Mutation in the MYLK gene ({600922}) on chromosome 3q21 causes AAT7 ({613780}). Mutation in the PRKG1 gene ({176894}) on chromosome 10q11 causes AAT8 ({615436}). Mutation in the MFAP5 gene ({601103}) on chromosome 12p13 causes AAT9 ({616166}). Mutation in the LOX gene ({153455}) on chromosome 5q23 causes AAT10 ({617168}). Mutation in the FOXE3 gene ({601094}) on chromosome 1p33 causes susceptibility to AAT11 ({617349}).\n\nThoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, {610168} and LDS1, {609192}, caused by mutation in the TGFBR2 ({190182}) and TGFBR1 ({190181}) genes, respectively).\n\n<Subhead> Reviews\n\n{20:Pyeritz (2014)} reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways.",[607086],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15409,Active,Orphanet+OMIM,OMIM:607087,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 2",,"For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see {607086}.",[607087],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:1541,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis cleft spasm,TRUE,FALSE,Active +GARD:15410,Active,Orphanet+OMIM,OMIM:607151,Subtype of disorder,[Disease subtype],Moyamoya disease 2,,"Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by {1:Kamada et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[607151],[2573],[Moyamoya disease],[7064],,,,, +GARD:15411,Active,Orphanet+OMIM,OMIM:607326,Subtype of disorder,[Disease subtype],Smith-mccort dysplasia 1,[Smc],"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC ({6:Spranger et al., 1976}; {3:Nakamura et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Smith-McCort Dysplasia\n\nSmith-McCort dysplasia-2 (SMC2; {615222}) is caused by mutation in the RAB33B gene ({605950}) on chromosome 4q31.",[607326],[178355],[Smith-McCort dysplasia],[10620],,,,, +GARD:15412,Active,Orphanet+OMIM,OMIM:607398,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 2,[Familial glucocorticoid deficiency 2],"Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by {1:Metherell et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[607398],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15413,Active,Orphanet+OMIM,OMIM:607482,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1m",,,[607482],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15414,Active,Orphanet+OMIM,OMIM:607554,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 3",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({3:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[607554],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15415,Active,Orphanet+OMIM,OMIM:607572,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 2",,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.,[607572],[548],[Leprosy],[6886],,,,, +GARD:15416,Active,Orphanet+OMIM,OMIM:607596,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1a","[pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, Pch1]","Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, {253300}); death usually occurs early.\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia\n\nAlso see PCH1B ({614678}), caused by mutation in the EXOSC3 gene ({606489}); PCH1C ({616081}), caused by mutation in the EXOSC8 gene ({606019}); PCH1D ({618065}), caused by mutation in the EXOSC9 gene ({606180}); PCH1E ({619303}), caused by mutation in the SLC25A46 gene ({610826}); PCH1F ({619304}), caused by mutation in the EXOSC1 gene ({606493}); PCH2A ({277470}), caused by mutation in the TSEN54 gene ({608755}); PCH2B ({612389}), caused by mutation in the TSEN2 gene ({608753}); PCH2C ({612390}), caused by mutation in the TSEN34 gene ({608754}); PCH2D ({613811}), caused by mutation in the SEPSECS gene ({613009}); PCH3 ({608027}), caused by mutation in the PCLO gene ({604918}); PCH4 ({225753}), caused by mutation in the TSEN54 gene; PCH5 ({610204}), caused by mutation in the TSEN54 gene; PCH6 ({611523}), caused by mutation in the RARS2 gene ({611524}); PCH7 ({614969}), caused by mutation in the TOE1 gene ({613931}); PCH8 ({614961}), caused by mutation in the CHMP1A gene ({164010}); PCH9 ({615809}), caused by mutation in the AMPD2 gene ({102771}); PCH10 ({615803}), caused by mutation in the CLP1 gene ({608757}); PCH11 ({617695}), caused by mutation in the TBC1D23 gene ({617687}); PCH12 ({618266}), caused by mutation in the COASY gene ({609855}); PCH13 ({618606}), caused by mutation in the VPS51 gene ({615738}); PCH14 ({619301}), caused by mutation in the PPIL1 gene ({601301}); PCH15 ({619302}), caused by mutation in the CDC40 gene ({605585}); PCH16 ({619527}), caused by mutation in the MINPP1 gene ({605391}); and PCH17 ({619909}), caused by mutation in the PRDM13 gene ({616741}) on chromosome 6q16.",[607596],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:15417,Active,Orphanet+OMIM,OMIM:607602,Subtype of disorder,[Disease subtype],"Ichthyosis, cyclic, with epidermolytic hyperkeratosis","[Ciehk, epidermolytic ichthyosis, annular]",,[607602],[312],[Autosomal dominant epidermolytic ichthyosis],[1039],,,,, +GARD:15418,Active,Orphanet+OMIM,OMIM:607644,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 3",,"For a general description and a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580}).",[607644],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:1542,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis hypopituitarism,TRUE,FALSE,Active +GARD:15420,Active,Orphanet+OMIM,OMIM:607823,Subtype of disorder,[Disease subtype],Hypotrichosis-lymphedema-telangiectasia syndrome,,"Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by {4:Irrthum et al., 2003}).",[607823],[69735],[Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome],[12827],,,,, +GARD:15421,Active,Orphanet+OMIM,OMIM:607829,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 2,"[myxomatous mitral valve prolapse 2, Mitral valve prolapse, myxomatous 2]","Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700}).",[607829],[741],[Familial mitral valve prolapse],[3687],,,,, +GARD:15422,Active,Orphanet+OMIM,OMIM:607832,Subtype of disorder,[Disease subtype],"Focal segmental glomerulosclerosis 3, susceptibility to","[Glomerulosclerosis, focal segmental, 3, susceptibility to]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[607832],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15423,Active,Orphanet+OMIM,OMIM:607903,Subtype of disorder,[Disease subtype],Hypotrichosis 6,"[monilethrix-like hypotrichosis, Hypotrichosis, localized, autosomal recessive 1, htl, hypotrichosis, localized, autosomal recessive]","Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by {5:Schaffer et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis\n\nLAH2 (HYPT7; {604379}) is caused by mutation in the LIPH gene ({607365}) on chromosome 3q27, and LAH3 (HYPT8; {278150}) is caused by mutation in the LPAR6 (P2RY5) gene ({609239}) on chromosome 13q14.12-q14.2.\n\nSee also hypotrichosis and recurrent skin vesicles ({613102}), which is caused by mutation in the DSC3 gene ({600271}).",[607903],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15424,Active,Orphanet+OMIM,OMIM:608097,Subtype of disorder,[Clinical subtype],"Periventricular heterotopia with microcephaly, autosomal recessive","[Periventricular nodular heterotopia 2, heterotopia, periventricular, autosomal recessive]",,[608097],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15425,Active,Orphanet+OMIM,OMIM:608098,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 3,,"For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.",[608098],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15426,Active,Orphanet+OMIM,OMIM:608194,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 13,,,[608194],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15427,Active,Orphanet+OMIM,OMIM:608217,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, 3","[Convulsions, benign familial neonatal, 3]","For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200}).",[608217],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15428,Active,Orphanet+OMIM,OMIM:608328,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 2,"[glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, Weill-marchesani syndrome, autosomal dominant]","Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({3:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.",[608328],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15429,Active,Orphanet+OMIM,OMIM:608358,Subtype of disorder,[Disease subtype],"Myopathy, myosin storage, autosomal dominant","[Myopathy, hyaline body, autosomal dominant, myopathy with lysis of type i myofibrils]","Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by {7:Dye et al., 2006}).",[608358],[53698],[Hyaline body myopathy],[7148],,,,, +GARD:1543,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis X-linked recessive,TRUE,FALSE,Active +GARD:15430,Active,Orphanet+OMIM,OMIM:608389,Subtype of disorder,[Malformation syndrome subtype],Branchiootic syndrome 3,[Bo syndrome 3],,[608389],[52429],[Branchiootic syndrome],[10148],,,,, +GARD:15431,Active,Orphanet+OMIM,OMIM:608393,Subtype of disorder,[Etiological subtype],"Microcephaly 6, primary, autosomal recessive",,,[608393],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15432,Active,Orphanet+OMIM,OMIM:608462,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 8",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[608462],[388],[Hirschsprung disease],[6660],,,,, +GARD:15434,Active,Orphanet+OMIM,OMIM:608569,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1o","[Cardiomyopathy, dilated, with ventricular tachycardia]",,[608569],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15435,Active,Orphanet+OMIM,OMIM:608629,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 3,,,[608629],[220493],[Joubert syndrome with ocular defect],[10168],,,,, +GARD:15436,Active,Orphanet+OMIM,OMIM:608644,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 3","[Ciliary dyskinesia, primary, 3, with or without situs inversus]","Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by {1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400}).",[608644],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15437,Active,Orphanet+OMIM,OMIM:608646,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[608646],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15438,Active,Orphanet+OMIM,OMIM:608647,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 5","[Ciliary dyskinesia, primary, 5, without situs inversus]","Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by {4:Olbrich et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[608647],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15439,Active,Orphanet+OMIM,OMIM:608656,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 3",,"For a general discussion of hereditary prostate cancer, see {176807}.",[608656],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1544,Active,Orphanet,ORPHA:216694,Disorder,[Morphological anomaly],Congenitally corrected transposition of the great arteries,"[Congenitally corrected transposition of the great vessels, Discordant ventriculoarterial and atrioventricular connections, Double discordance, L-transposition of the great arteries, Levo-transposition of the great arteries, Ventricular inversion, Ventriculoarterial and atrioventricular discordance]","Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.",,,,,,Congenitally corrected transposition of the great arteries,TRUE,FALSE,Active +GARD:15440,Active,Orphanet+OMIM,OMIM:608658,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 4",,"For a general discussion of hereditary prostate cancer, see {176807}.",[608658],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15441,Active,Orphanet+OMIM,OMIM:608716,Subtype of disorder,[Etiological subtype],"Microcephaly 5, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by {20:Woods et al., 2005}; {17:Saadi et al., 2009}; {11:Passemard et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 ({251200}).",[608716],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15442,Active,Orphanet+OMIM,OMIM:608796,Subtype of disorder,[Disease subtype],Moyamoya disease 3,,"In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by {1:Sakurai et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[608796],[2573],[Moyamoya disease],[7064],,,,, +GARD:15443,Active,Orphanet+OMIM,OMIM:608816,Subtype of disorder,[Disease subtype],"Myoclonic epilepsy, juvenile, susceptibility to, 3",,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[608816],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15444,Active,Orphanet+OMIM,OMIM:608890,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2d","[Waardenburg syndrome, type iid]","Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {2:Read and Newton, 1997}). WS type 2D is caused by mutation in the SNAI2 gene ({602150}). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[608890],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15445,Active,Orphanet+OMIM,OMIM:608930,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 1b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[608930],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15446,Active,Orphanet+OMIM,OMIM:608988,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 2",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[608988],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15447,Active,Orphanet+OMIM,OMIM:609039,Subtype of disorder,[Disease subtype],Narcolepsy 3,,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[609039],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15448,Active,Orphanet+OMIM,OMIM:609053,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group i",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[609053],[84],[Fanconi anemia],[6425],,,,, +GARD:15449,Active,Orphanet+OMIM,OMIM:609054,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group j",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[609054],[84],[Fanconi anemia],[6425],,,,, +GARD:15450,Active,Orphanet+OMIM,OMIM:609197,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 3,,"Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by {1:Genin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[609197],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15451,Active,Orphanet+OMIM,OMIM:609254,Subtype of disorder,[Disease subtype],Senior-loken syndrome 5,,Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (LCA; see {204000}).,[609254],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15452,Active,Orphanet+OMIM,OMIM:609273,Subtype of disorder,[Disease subtype],Nemaline myopathy 6,,"Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by {4:Sambuughin et al., 2010}).",[609273],[171439],[Childhood-onset nemaline myopathy],[7171],,,,, +GARD:15453,Active,Orphanet+OMIM,OMIM:609284,Subtype of disorder,[Disease subtype],Nemaline myopathy 1,,"Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by {14:Waddell et al., 2010} and {9:Malfatti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[609284],"[171433, 171439]","[Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12823, 7171]",,,,, +GARD:15454,Active,Orphanet+OMIM,OMIM:609285,Subtype of disorder,[Disease subtype],Nemaline myopathy 4,,,[609285],"[171436, 171439]","[Typical nemaline myopathy, Childhood-onset nemaline myopathy]","[12822, 7171]",,,,, +GARD:15455,Active,Orphanet+OMIM,OMIM:609299,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 5",,"For a general discussion of hereditary prostate cancer, see {176807}.",[609299],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15456,Active,Orphanet+OMIM,OMIM:609304,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 3,"[Epileptic encephalopathy, early infantile, 3]","Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by {2:Molinari et al., 2005}, {1:Molinari et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[609304],"[1935, 1934]","[Early infantile epileptic encephalopathy, Early myoclonic encephalopathy]","[16581, 9255]",,,,, +GARD:15457,Active,Orphanet+OMIM,OMIM:609310,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 2","[coca2, Colon cancer, familial nonpolyposis, type 2]",,[609310],[144],[Lynch syndrome],[9905],,,,, +GARD:15458,Active,Orphanet+OMIM,OMIM:609345,Subtype of disorder,[Malformation syndrome subtype],Cerebrorenodigital syndrome with limb malformations and triradiate acetabula,,"{1:Franceschini et al. (2004)} observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; {249000}), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. {1:Franceschini et al. (2004)} noted that although short and bowed limbs are seen in about 15% of MKS cases ({2:Majewski et al., 1983}), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.",[609345],[564],[Meckel syndrome],[3436],,,,, +GARD:15459,Active,Orphanet+OMIM,OMIM:609384,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 3c",,"For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A ({600638}).",[609384],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:1546,Legacy,GARD,,,,,,,,,,,,Cortada Koussef Matsumoto syndrome,TRUE,FALSE,Active +GARD:15460,Active,Orphanet+OMIM,OMIM:609470,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 2,,"For a phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction (LVNC), see {604169}.",[609470],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15461,Active,Orphanet+OMIM,OMIM:609508,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type i, nonsyndromic ocular","[Stickler syndrome, type i, predominantly ocular, stickler syndrome, atypical]",,[609508],[90653],[Stickler syndrome type 1],[5018],,,,, +GARD:15462,Active,Orphanet+OMIM,OMIM:609558,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 6",,"For a general discussion of hereditary prostate cancer, see {176807}.",[609558],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15463,Active,Orphanet+OMIM,OMIM:609572,Subtype of disorder,[Disease subtype],Photoparoxysmal response 2,,"For a phenotypic description and a discussion of genetic heterogeneity of photoparoxysmal response, see PPR1 ({132100}).",[609572],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15464,Active,Orphanet+OMIM,OMIM:609573,Subtype of disorder,[Disease subtype],Photoparoxysmal response 3,,"For a phenotypic description and a discussion of genetic heterogeneity of the photoparoxysmal response, see PPR1 ({132100}).",[609573],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15465,Active,Orphanet+OMIM,OMIM:609583,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 4,,,[609583],[220497],[Joubert syndrome with renal defect],[10169],,,,, +GARD:15466,Active,Orphanet+OMIM,OMIM:609612,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, with synergistic divergence","[Congenital fibrosis syndrome with synergistic divergence, external ophthalmoplegia with synergistic divergence, External ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation, included]",,[609612],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15467,Active,Orphanet+OMIM,OMIM:609630,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 1",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[609630],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15469,Active,Orphanet+OMIM,OMIM:609909,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1p",,,[609909],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:1547,Legacy,GARD,,,,,,,,,,,,Cortes Lacassie syndrome,TRUE,FALSE,Active +GARD:15470,Active,Orphanet+OMIM,OMIM:609915,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1q",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[609915],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15471,Active,Orphanet+OMIM,OMIM:610092,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 3","[Microphthalmia, colobomatous, isolated 3]",,[610092],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15472,Active,Orphanet+OMIM,OMIM:610181,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 2,,,[610181],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15473,Active,Orphanet+OMIM,OMIM:610185,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {3:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[610185],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15474,Active,Orphanet+OMIM,OMIM:610187,Subtype of disorder,[Morphological anomaly subtype],Diaphragmatic hernia 3,,,[610187],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15475,Active,Orphanet+OMIM,OMIM:610188,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 5,,,[610188],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:15476,Active,Orphanet+OMIM,OMIM:610189,Subtype of disorder,[Disease subtype],Senior-loken syndrome 6,,,[610189],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15477,Active,Orphanet+OMIM,OMIM:610283,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 10,,,[610283],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15478,Active,Orphanet+OMIM,OMIM:610321,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 7",,"For a general discussion of hereditary prostate cancer, see {176807}.",[610321],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15479,Active,Orphanet+OMIM,OMIM:610329,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 3,,"Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by {2:Vogt et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750}).",[610329],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:1548,Active,Orphanet,ORPHA:1389,Disorder,[Malformation syndrome],Cortical blindness-intellectual disability-polydactyly syndrome,,"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.",[218010],,,,,Cortical blindness-intellectual disability-polydactyly syndrome,TRUE,FALSE,Active +GARD:15480,Active,Orphanet+OMIM,OMIM:610333,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 4,,,[610333],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15481,Active,Orphanet+OMIM,OMIM:610353,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 4","[Epilepsy, familial, with nocturnal wandering and ictal fear]","Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by {1:Aridon et al., 2006}). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) ({3:Trivisano et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 ({600513}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[610353],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15482,Active,Orphanet+OMIM,OMIM:610374,Subtype of disorder,[Disease subtype],"Diabetes mellitus, transient neonatal, 2",,,[610374],[99886],[Transient neonatal diabetes mellitus],[1839],,,,, +GARD:15483,Active,Orphanet+OMIM,OMIM:610379,Subtype of disorder,[Disease subtype],"West nile virus, susceptibility to","[Wnv, susceptibility to]","WNV is an enveloped, neurotropic, single-stranded sense RNA flavivirus that is naturally maintained in a zoonotic cycle between avian hosts and mosquito vectors. The virus was first isolated from a Ugandan woman in 1937 and subsequently emerged in Europe and, in 1999, in New York, with eventual spread throughout North America. WNV causes a spectrum of disease ranging from acute fever to lethal encephalitis. Susceptibility to WNV is increased in the elderly and in immunocompromised individuals (summary by {4:Diamond and Klein (2006)} and {5:Glass et al. (2005)}).",[610379],[83476],[West-Nile encephalitis],[9959],,,,, +GARD:15484,Active,Orphanet+OMIM,OMIM:610381,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 11,,,[610381],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15485,Active,Orphanet+OMIM,OMIM:610427,Subtype of disorder,[Disease subtype],"Cone-rod synaptic disorder, congenital nonprogressive","[night blindness, congenital stationary, incomplete, autosomal recessive, formerly, Night blindness, congenital stationary, type 2b, formerly]","Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses ({6:Traboulsi, 2013}; {4:Khan, 2014}).",[610427],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15486,Active,Orphanet+OMIM,OMIM:610430,Subtype of disorder,[Disease subtype],"Macroglobulinemia, waldenstrom, susceptibility to, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see {153600}.",[610430],[33226],[Waldenström macroglobulinemia],[7872],,,,, +GARD:15487,Active,Orphanet+OMIM,OMIM:610444,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 3","[Night blindness, congenital stationary, nougaret type]",,[610444],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15488,Active,Orphanet+OMIM,OMIM:610445,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 1","[Night blindness, congenital stationary, rhodopsin-related]",,[610445],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15489,Active,Orphanet+OMIM,OMIM:610475,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 2","[cushing syndrome, adrenal, due to ppnad2, Pigmented micronodular adrenocortical disease, primary, 2]",,[610475],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:15490,Active,Orphanet+OMIM,OMIM:610582,Subtype of disorder,[Disease subtype],"Diabetes mellitus, transient neonatal, 3",[Tndm3],,[610582],[99886],[Transient neonatal diabetes mellitus],[1839],,,,, +GARD:15492,Active,Orphanet+OMIM,OMIM:610685,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation with long bone deficiency 2,,"For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 ({119100}).",[610685],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15493,Active,Orphanet+OMIM,OMIM:610687,Subtype of disorder,[Disease subtype],Nemaline myopathy 7,,"Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by {2:Ockeloen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[610687],[171436],[Typical nemaline myopathy],[12822],,,,, +GARD:15494,Active,Orphanet+OMIM,OMIM:610688,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 6,,"Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa ({5:Romano et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[610688],[475],[Joubert syndrome],[6802],,,,, +GARD:15495,Active,Orphanet+OMIM,OMIM:610725,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 3","[Nephrotic syndrome, early-onset, type 3]","Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) ({4:Hinkes et al., 2006}).\n\nMost patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen ({2:Gbadegesin et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[610725],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15496,Active,Orphanet+OMIM,OMIM:610753,Subtype of disorder,[Disease subtype],Alopecia areata 2,,"For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see {104000}.",[610753],"[700, 701]","[Alopecia totalis, Alopecia universalis]","[614, 613]",,,,, +GARD:15497,Active,Orphanet+OMIM,OMIM:610756,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 2,,,[610756],[1466],[COFS syndrome],[6027],,,,, +GARD:15498,Active,Orphanet+OMIM,OMIM:610758,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 4,,"Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by {1:Jaspers et al., 2007} and {2:Kashiyama et al., 2013}).\n\nFor a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.",[610758],[1466],[COFS syndrome],[6027],,,,, +GARD:15499,Active,Orphanet+OMIM,OMIM:610759,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 3 with or without midline brain defects,,"Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and impaired intellectual development, hypertrichosis, and sometimes distal limb malformations (summary by {3:Gil-Rodriguez et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[610759],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:155,Active,Orphanet,ORPHA:2378,Disorder,[Malformation syndrome],Laurin-Sandrow syndrome,"[Mirror hands and feets-nasal defects syndrome, Sandrow syndrome]","Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.",[135750],,,,,Laurin-Sandrow syndrome,TRUE,FALSE,Active +GARD:1550,Active,Orphanet,ORPHA:3071,Disorder,[Malformation syndrome],Costello syndrome,"[FCS syndrome, Faciocutaneoskeletal syndrome]","A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.",[218040],,,,,Costello syndrome,TRUE,FALSE,Active +GARD:15500,Active,Orphanet+OMIM,OMIM:610832,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group n",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[610832],[84],[Fanconi anemia],[6425],,,,, +GARD:15501,Active,Orphanet+OMIM,OMIM:610840,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 3,"[Mitral valve prolapse, myxomatous 3, myxomatous mitral valve prolapse 3]","Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700}).",[610840],[741],[Familial mitral valve prolapse],[3687],,,,, +GARD:15502,Active,Orphanet+OMIM,OMIM:610852,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 6",,,[610852],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15503,Active,Orphanet+OMIM,OMIM:610896,Subtype of disorder,[Malformation syndrome subtype],Branchiootorenal syndrome 2,,,[610896],[107],[BOR syndrome],[10147],,,,, +GARD:15504,Active,Orphanet+OMIM,OMIM:610988,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 4",,,[610988],[548],[Leprosy],[6886],,,,, +GARD:15505,Active,Orphanet+OMIM,OMIM:610997,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 9",,,[610997],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15506,Active,Orphanet+OMIM,OMIM:611031,Subtype of disorder,[Disease subtype],Episodic kinesigenic dyskinesia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 ({128200}).",[611031],[98809],[Paroxysmal kinesigenic dyskinesia],[8721],,,,, +GARD:15507,Active,Orphanet+OMIM,OMIM:611100,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 10",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611100],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15508,Active,Orphanet+OMIM,OMIM:611131,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 37,,,[611131],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15509,Active,Orphanet+OMIM,OMIM:611134,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 4","[Meckel-gruber syndrome, type 4]","Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {1:Baala et al., 2007}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[611134],[564],[Meckel syndrome],[3436],,,,, +GARD:1551,Active,Orphanet,ORPHA:2391,Disorder,[Malformation syndrome],Congenitally short costocoracoid ligament,,"A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.",[122580],,,,,Costocoracoid ligament congenitally short,TRUE,FALSE,Active +GARD:15510,Active,Orphanet+OMIM,OMIM:611147,Subtype of disorder,[Disease subtype],Paroxysmal nonkinesigenic dyskinesia 2,,"For a general phenotypic description of paroxysmal nonkinesigenic dyskinesia, see PNKD1 ({118800}).",[611147],[98810],[Paroxysmal non-kinesigenic dyskinesia],[8722],,,,, +GARD:15511,Active,Orphanet+OMIM,OMIM:611263,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 2 with or without polydactyly,[Asphyxiating thoracic dystrophy 2],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[611263],[474],[Jeune syndrome],[3049],,,,, +GARD:15512,Active,Orphanet+OMIM,OMIM:611363,Subtype of disorder,[Clinical subtype],Atrial septal defect 4,,,[611363],[99103],"[Atrial septal defect, ostium secundum type]",[5865],,,,, +GARD:15513,Active,Orphanet+OMIM,OMIM:611364,Subtype of disorder,[Disease subtype],"Myoclonic epilepsy, juvenile, susceptibility to, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy (JME), see {254770}. JME is a form of idiopathic generalized epilepsy (IGE; {600669}).",[611364],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15514,Active,Orphanet+OMIM,OMIM:611383,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iid",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({4:Eudy et al., 1998}).\n\nSee {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901}).",[611383],[231178],[Usher syndrome type 2],[5440],,,,, +GARD:15515,Active,Orphanet+OMIM,OMIM:611407,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1w",,,[611407],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15516,Active,Orphanet+OMIM,OMIM:611493,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 4",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[611493],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15517,Active,Orphanet+OMIM,OMIM:611494,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 5",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[611494],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15518,Active,Orphanet+OMIM,OMIM:611554,Subtype of disorder,[Malformation syndrome subtype],Leopard syndrome 2,,,[611554],[500],[Noonan syndrome with multiple lentigines],[1100],,,,, +GARD:15519,Active,Orphanet+OMIM,OMIM:611560,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 7,,,[611560],[220497],[Joubert syndrome with renal defect],[10169],,,,, +GARD:15520,Active,Orphanet+OMIM,OMIM:611561,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 5",,,[611561],[564],[Meckel syndrome],[3436],,,,, +GARD:15521,Active,Orphanet+OMIM,OMIM:611584,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2e","[waardenburg syndrome, type 2e, with or without neurologic involvement, Hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation, waardenburg syndrome, type iie, ws2e, with or without neurologic involvement]","Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {9:Read and Newton, 1997}). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene ({602229}), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[611584],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15522,Active,Orphanet+OMIM,OMIM:611615,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1x","[Cardiomyopathy, dilated, with mild or no proximal muscle weakness]",,[611615],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15523,Active,Orphanet+OMIM,OMIM:611631,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}.",[611631],[98819],[Familial temporal lobe epilepsy],[5135],,,,, +GARD:15524,Active,Orphanet+OMIM,OMIM:611638,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 5",,,[611638],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15525,Active,Orphanet+OMIM,OMIM:611644,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 9",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[611644],[388],[Hirschsprung disease],[6660],,,,, +GARD:15526,Active,Orphanet+OMIM,OMIM:611777,Subtype of disorder,[Disease subtype],Brugada syndrome 2,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[611777],[130],[Brugada syndrome],[1030],,,,, +GARD:15527,Active,Orphanet+OMIM,OMIM:611788,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 6",[Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi],,[611788],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15528,Active,Orphanet+OMIM,OMIM:611804,Subtype of disorder,[Disease subtype],Elliptocytosis 1,"[4.1-minus trait, Elliptocytosis, rhesus-linked type, 4.1- trait, protein 4.1 of erythrocyte membrane, defect of]","Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by {24:McGuire et al., 1988}).\n\n<Subhead> Genetic Heterogeneity of Elliptocytosis\n\nElliptocytosis-2 ({130600}) is caused by mutation in the SPTA1 gene ({182860}). Elliptocytosis-3 ({617948}) is caused by mutation in the SPTB gene ({182870}). Elliptocytosis-4 ({166900}), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene ({109270}). Also see pyropoikilocytosis ({266140}).\n\nSee {11:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders.",[611804],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:15529,Active,Orphanet+OMIM,OMIM:611868,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 12",,,[611868],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1553,Legacy,GARD,,,,,,,,,,,,Arthrogryposis and ectodermal dysplasia,TRUE,FALSE,Active +GARD:15530,Active,Orphanet+OMIM,OMIM:611878,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1y",,"Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure ({3:Olson et al., 2001}).\n\nIn left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle ({4:Probst et al., 2011}). Some patients also exhibit Ebstein anomaly of the tricuspid valve ({1:Kelle et al., 2016}) and some have mitral valve insufficiency ({2:Nijak et al., 2018}).",[611878],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15531,Active,Orphanet+OMIM,OMIM:611879,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1z",,,[611879],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15532,Active,Orphanet+OMIM,OMIM:611880,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2a","[cardiomyopathy, congestive, autosomal recessive, Cardiomyopathy, dilated, autosomal recessive]",,[611880],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15533,Active,Orphanet+OMIM,OMIM:611884,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 7","[Ciliary dyskinesia, primary, 7, with or without situs inversus]","Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {3:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400}).",[611884],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15534,Active,Orphanet+OMIM,OMIM:611928,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 13",,,[611928],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15535,Active,Orphanet+OMIM,OMIM:611938,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 2","[Ventricular tachycardia, stress-induced polymorphic]",,[611938],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15536,Active,Orphanet+OMIM,OMIM:611955,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 11",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611955],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15537,Active,Orphanet+OMIM,OMIM:611958,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 14",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611958],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15538,Active,Orphanet+OMIM,OMIM:611959,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 15",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611959],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15539,Active,Orphanet+OMIM,OMIM:612016,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 4","[Spinocerebellar ataxia, autosomal recessive 9]","Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by {4:Mollet et al., 2008} and {2:Lagier-Tourenne et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).",[612016],[139485],[Autosomal recessive ataxia due to ubiquinone deficiency],[10294],,,,, +GARD:1554,Legacy,GARD,,,,,,,,,,,,Cote Katsantoni syndrome,TRUE,FALSE,Active +GARD:15540,Active,Orphanet+OMIM,OMIM:612069,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia,,,[612069],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:15541,Active,Orphanet+OMIM,OMIM:612076,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, renal, 2",,"Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by {7:Matsuo et al., 2008}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 ({220150}).",[612076],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15542,Active,Orphanet+OMIM,OMIM:612132,Subtype of disorder,[Disease subtype],Ectodermal dysplasia and immunodeficiency 2,"[ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant, ectodermal dysplasia, hypohidrotic, with immunodeficiency 2, Ectodermal dysplasia, anhidrotic, with immunodeficiency 2]","EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by {1:Boisson et al., 2017}).\n\nMutations in the NFKBIA gene result in functional impairment of NFKB (see {164011}), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection ({8:McDonald et al., 2007}).\n\nFor discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see {300291}.",[612132],[98813],[Hypohidrotic ectodermal dysplasia with immunodeficiency],[9936],,,,, +GARD:15543,Active,Orphanet+OMIM,OMIM:612158,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction",,,[612158],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15544,Active,Orphanet+OMIM,OMIM:612201,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 6",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[612201],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15545,Active,Orphanet+OMIM,OMIM:612240,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 7",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[612240],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15546,Active,Orphanet+OMIM,OMIM:612274,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 8",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[612274],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15547,Active,Orphanet+OMIM,OMIM:612281,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 6","[Ichthyosis, congenital, autosomal recessive, nipal4-related]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[612281],"[79394, 313]","[Lamellar ichthyosis, Congenital non-bullous ichthyosiform erythroderma]","[10803, 9736]",,,,, +GARD:15548,Active,Orphanet+OMIM,OMIM:612284,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 6",,,[612284],[564],[Meckel syndrome],[3436],,,,, +GARD:15549,Active,Orphanet+OMIM,OMIM:612285,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 9,,"Joubert syndrome-9 (JBTS9) is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, and abnormal respiratory control. Variable features include retinal dystrophy, kidney disease, and seizures. Brain imaging shows cerebellar vermis hypoplasia and the 'molar tooth sign.' Brain imaging may also show ventriculomegaly ({1:Bachmann-Gagescu et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBST1 ({213300}).",[612285],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:1555,Active,Orphanet,ORPHA:93333,Disorder,[Malformation syndrome],Pelviscapular dysplasia,"[Cousin syndrome, Familial pelvis-scapular dysplasia]","Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.",[260660],,,,,Cousin syndrome,TRUE,FALSE,Active +GARD:15550,Active,Orphanet+OMIM,OMIM:612291,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 8,,,[612291],[475],[Joubert syndrome],[6802],,,,, +GARD:15551,Active,Orphanet+OMIM,OMIM:612293,Subtype of disorder,[Disease subtype],"Porokeratosis 5, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[612293],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15552,Active,Orphanet+OMIM,OMIM:612353,Subtype of disorder,[Disease subtype],"Porokeratosis 6, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).",[612353],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15553,Active,Orphanet+OMIM,OMIM:612389,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2b",,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).",[612389],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15554,Active,Orphanet+OMIM,OMIM:612390,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2c",,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).",[612390],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15555,Active,Orphanet+OMIM,OMIM:612417,Subtype of disorder,[Disease subtype],"Narcolepsy 4, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[612417],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15556,Active,Orphanet+OMIM,OMIM:612437,Subtype of disorder,[Malformation syndrome subtype],"Epilepsy, progressive myoclonic, 1b",,,[612437],[308],[Progressive myoclonic epilepsy type 1],[3876],,,,, +GARD:15557,Active,Orphanet+OMIM,OMIM:612438,Subtype of disorder,[Disease subtype],"Leukodystrophy, hypomyelinating, 6","[Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum]","Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by {8:Simons et al., 2013}).\n\nHypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits ({10:van der Knaap et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[612438],[139441],[Hypomyelination with atrophy of basal ganglia and cerebellum],[10917],,,,, +GARD:15558,Active,Orphanet+OMIM,OMIM:612444,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 9","[Ciliary dyskinesia, primary, 9, with or without situs inversus]","Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[612444],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15559,Active,Orphanet+OMIM,OMIM:612469,Subtype of disorder,[Malformation syndrome subtype],"Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome",,"For a detailed discussion of the WAGR syndrome, see {194072}. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.",[612469],[893],[WAGR syndrome],[5528],,,,, +GARD:15560,Active,Orphanet+OMIM,OMIM:612518,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 10","[Ciliary dyskinesia, primary, 10, with or without situs inversus]",,[612518],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15561,Active,Orphanet+OMIM,OMIM:612527,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 4,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612527],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15562,Active,Orphanet+OMIM,OMIM:612528,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 5,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612528],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15563,Active,Orphanet+OMIM,OMIM:612529,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia2","[Amelogenesis imperfecta, pigmented hypomaturation type, 2]","Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({6:Witkop, 1988}).",[612529],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15564,Active,Orphanet+OMIM,OMIM:612551,Subtype of disorder,[Disease subtype],"Focal segmental glomerulosclerosis 4, susceptibility to","[End-stage renal disease, nondiabetic, susceptibility to, included]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({4:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[612551],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15565,Active,Orphanet+OMIM,OMIM:612557,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612557],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15566,Active,Orphanet+OMIM,OMIM:612558,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 4",,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612558],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15567,Active,Orphanet+OMIM,OMIM:612559,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 5",,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612559],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15568,Active,Orphanet+OMIM,OMIM:612561,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 6,[Aase-smith syndrome ii],"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {7:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612561],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15569,Active,Orphanet+OMIM,OMIM:612562,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 7,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612562],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15570,Active,Orphanet+OMIM,OMIM:612563,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 8,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612563],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15571,Active,Orphanet+OMIM,OMIM:612572,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 46,"[Retinitis pigmentosa, autosomal recessive, idh3b-related]","Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function ({1:Hartong et al., 2008}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[612572],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15572,Active,Orphanet+OMIM,OMIM:612576,Subtype of disorder,[Malformation syndrome subtype],"Chromosome 17p13.3, telomeric, duplication syndrome",,,[612576],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15573,Active,Orphanet+OMIM,OMIM:612632,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ih",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[612632],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15574,Active,Orphanet+OMIM,OMIM:612649,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 11","[Ciliary dyskinesia, primary, 11, without situs inversus]",,[612649],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15575,Active,Orphanet+OMIM,OMIM:612650,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 12","[Ciliary dyskinesia, primary, 12, without situs inversus]",,[612650],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15576,Active,Orphanet+OMIM,OMIM:612653,Subtype of disorder,[Disease subtype],"Spherocytosis, type 4","[Spherocytosis, hereditary, 4]",,[612653],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15577,Active,Orphanet+OMIM,OMIM:612657,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 12,,,[612657],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15578,Active,Orphanet+OMIM,OMIM:612690,Subtype of disorder,[Disease subtype],"Spherocytosis, type 5","[Spherocytosis, hereditary, 5]",,[612690],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15579,Active,Orphanet+OMIM,OMIM:612692,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 6, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to cd79b defect]",,[612692],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:1558,Active,Orphanet,ORPHA:1508,Disorder,[Malformation syndrome],Coxoauricular syndrome,,"Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.",[122780],,,,,Coxoauricular syndrome,TRUE,FALSE,Active +GARD:15580,Active,Orphanet+OMIM,OMIM:612703,Subtype of disorder,[Etiological subtype],"Microcephaly 7, primary, autosomal recessive",,,[612703],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15581,Active,Orphanet+OMIM,OMIM:612715,Subtype of disorder,[Disease subtype],Dyschromatosis universalis hereditaria 2,,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {3:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 ({127500}).",[612715],[241],[Dyschromatosis universalis hereditaria],[1996],,,,, +GARD:15582,Active,Orphanet+OMIM,OMIM:612775,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 9,,,[612775],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15583,Active,Orphanet+OMIM,OMIM:612798,Subtype of disorder,[Malformation syndrome subtype],"Question mark ears, isolated","[auricular cleft, congenital, Ears, prominent and constricted, cosman deformity of the auricle]","Question mark ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral ({7:Shkalim et al., 2008}).",[612798],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15584,Active,Orphanet+OMIM,OMIM:612838,Subtype of disorder,[Disease subtype],Brugada syndrome 5,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[612838],[130],[Brugada syndrome],[1030],,,,, +GARD:15585,Active,Orphanet+OMIM,OMIM:612841,Subtype of disorder,[Disease subtype],Hypotrichosis 5,[Marie unna hereditary hypotrichosis 2],"Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by {3:Zhang et al., 2012}).\n\nFor a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 ({146550}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[612841],[444],[Marie Unna hereditary hypotrichosis],[3390],,,,, +GARD:15586,Active,Orphanet+OMIM,OMIM:612843,Subtype of disorder,[Disease subtype],"Keratosis follicularis spinulosa decalvans, autosomal dominant",,"Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; {308800}) ({2:Castori et al., 2009}).",[612843],[2340],[Keratosis follicularis spinulosa decalvans],[6829],,,,, +GARD:15587,Active,Orphanet+OMIM,OMIM:612851,Subtype of disorder,[Disease subtype],"Narcolepsy 5, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[612851],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15588,Active,Orphanet+OMIM,OMIM:612877,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1bb",,"Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning ({2:Shiba et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[612877],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15589,Active,Orphanet+OMIM,OMIM:612881,Subtype of disorder,[Clinical subtype],"Chromosome 5q14.3 deletion syndrome, distal",,,[612881],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15590,Active,Orphanet+OMIM,OMIM:612908,Subtype of disorder,[Disease subtype],Keratosis palmoplantaris striata ii,"[striate palmoplantar keratoderma ii, Keratoderma, palmoplantar, striate form ii]","PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. ({1:Armstrong et al., 1999}; {3:Whittock et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 ({148700}).",[612908],[50942],[Striate palmoplantar keratoderma],[15016],,,,, +GARD:15591,Active,Orphanet+OMIM,OMIM:612921,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 2,[3m syndrome 2],"3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips ({3:Hanson et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750}).",[612921],[2616],[3M syndrome],[5667],,,,, +GARD:15592,Active,Orphanet+OMIM,OMIM:612936,Subtype of disorder,[Disease subtype],"Spastic paraplegia 50, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 3, formerly]","Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development (summary by {3:Verkerk et al., 2009}).",[612936],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:15593,Active,Orphanet+OMIM,OMIM:612943,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 42,,,[612943],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15595,Active,Orphanet+OMIM,OMIM:612955,Subtype of disorder,[Disease subtype],Long qt syndrome 12,,"Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[612955],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:15596,Active,Orphanet+OMIM,OMIM:612956,Subtype of disorder,[Disease subtype],"Ventricular fibrillation, paroxysmal familial, 2",,,[612956],[228140],"[Idiopathic ventricular fibrillation, non Brugada type]",[4227],,,,, +GARD:15597,Active,Orphanet+OMIM,OMIM:612961,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 3,,,[612961],[3237],[Multiple synostoses syndrome],[3836],,,,, +GARD:15598,Active,Orphanet+OMIM,OMIM:612965,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 3","[disorder of sex development, 46,xy, nr5a1-related, 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure, sex reversal, xy, with or without adrenal failure, 46,xy sex reversal, partial or complete, nr5a1-related]",,[612965],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15599,Active,Orphanet+OMIM,OMIM:612968,Subtype of disorder,[Morphological anomaly subtype],"Cataract 34, multiple types","[Cataract 34, multiple types, with or without microcornea, cataract, autosomal recessive congenital 3]","Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.",[612968],[708],[Peters anomaly],[7377],,,,, +GARD:156,Active,Orphanet,ORPHA:588,Disorder,[Malformation syndrome],Muscle-eye-brain disease,"[MEB syndrome, Muscle-eye-brain syndrome, Santavuori congenital muscular dystrophy]","A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.","[613153, 613150, 613154, 615350, 253800, 615181, 236670, 253280]",,,,,Muscle eye brain disease,TRUE,FALSE,Active +GARD:15600,Active,Orphanet+OMIM,OMIM:613002,Subtype of disorder,[Disease subtype],"Immunodeficiency 83, susceptibility to viral infections",,"Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adults, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by {8:Zhang et al., 2013}; summary by {5:Mork et al., 2015}; {7:Sironi et al., 2017}, {3:Lim et al., 2019}, {6:Partanen et al., 2020}).\n\nFor a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.",[613002],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15601,Active,Orphanet+OMIM,OMIM:613007,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 2",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[613007],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15602,Active,Orphanet+OMIM,OMIM:613008,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 3",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[613008],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15603,Active,Orphanet+OMIM,OMIM:613013,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 2",,,[613013],[635],[Neuroblastoma],[7185],,,,, +GARD:15604,Active,Orphanet+OMIM,OMIM:613014,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 3",,,[613014],[635],[Neuroblastoma],[7185],,,,, +GARD:15605,Active,Orphanet+OMIM,OMIM:613015,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613015],[635],[Neuroblastoma],[7185],,,,, +GARD:15606,Active,Orphanet+OMIM,OMIM:613016,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 5",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613016],[635],[Neuroblastoma],[7185],,,,, +GARD:15607,Active,Orphanet+OMIM,OMIM:613017,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 6",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613017],[635],[Neuroblastoma],[7185],,,,, +GARD:15608,Active,Orphanet+OMIM,OMIM:613024,Subtype of disorder,[Disease subtype],"Follicular lymphoma, susceptibility to, 1",,"Follicular non-Hodgkin lymphoma is an indolent B-cell malignancy with an annual incidence exceeding 10,000 cases in the United States ({2:Bohen et al., 2003}). One form of susceptibility to follicular lymphoma (FL1) is associated with a region on chromosome 6p21.33.",[613024],[545],[Follicular lymphoma],[2356],,,,, +GARD:15609,Active,Orphanet+OMIM,OMIM:613055,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 8",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[613055],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:1561,Active,Orphanet,ORPHA:202,Disorder,[Disease],Crandall syndrome,"[Alopecia-deafness-hypogonadism syndrome, Alopecia-hearing loss-hypogonadism syndrome, Alopecia-sensorineural deafness-hypogonadism syndrome, Alopecia-sensorineural hearing loss-hypogonadism syndrome]","Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.",,,,,,Crandall syndrome,TRUE,FALSE,Active +GARD:15610,Active,Orphanet+OMIM,OMIM:613073,Subtype of disorder,[Disease subtype],Metaphyseal anadysplasia 2,,,[613073],[1040],[Metaphyseal anadysplasia],[3562],,,,, +GARD:15611,Active,Orphanet+OMIM,OMIM:613080,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 5","[46,xy gonadal dysgenesis, complete, cbx2-related, 46,xy sex reversal, cbx2-related, disorder of sex development, 46,xy, cbx2-related, sex reversal, xy, cbx2-related]",,[613080],[242],"[46,XY complete gonadal dysgenesis]",[5068],,,,, +GARD:15612,Active,Orphanet+OMIM,OMIM:613090,Subtype of disorder,[Clinical subtype],"Bartter syndrome, type 4b, neonatal, with sensorineural deafness",,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({4:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {5:Simon et al., 1996} and {1:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.",[613090],[89938],[Bartter syndrome type 4],[10508],,,,, +GARD:15613,Active,Orphanet+OMIM,OMIM:613091,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 3 with or without polydactyly,"[short rib-polydactyly syndrome, type i, saldino-noonan syndrome, polydactyly with neonatal chondrodystrophy, type i, short rib-polydactyly syndrome, type iii, verma-naumoff syndrome, polydactyly with neonatal chondrodystrophy, type iii, short rib-polydactyly syndrome, type iib, Asphyxiating thoracic dystrophy 3]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {7:Huber and Cormier-Daire, 2012} and {21:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[613091],"[93271, 93269, 474]","[Short rib-polydactyly syndrome, Majewski type, Short rib-polydactyly syndrome, Verma-Naumoff type, Jeune syndrome]","[4833, 3049, 4835]",,,,, +GARD:15614,Active,Orphanet+OMIM,OMIM:613101,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",,"Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, {251850}). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by {7:Meeths et al., 2010}; {8:Pagel et al., 2012}; {10:Stepensky et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see {267700}.",[613101],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,,,, +GARD:15615,Active,Orphanet+OMIM,OMIM:613105,Subtype of disorder,[Disease subtype],"Choroidal dystrophy, central areolar 2","[Macular dystrophy, progressive]","Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by {2:Boon et al., 2009}).\n\nFor a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500}).",[613105],[75377],[Central areolar choroidal dystrophy],[10049],,,,, +GARD:15616,Active,Orphanet+OMIM,OMIM:613107,Subtype of disorder,[Disease subtype],"Neutropenia, severe congenital, 2, autosomal dominant",,,[613107],[486],[Autosomal dominant severe congenital neutropenia],[9558],,,,, +GARD:15617,Active,Orphanet+OMIM,OMIM:613108,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 4","[Candidiasis, familial chronic mucocutaneous]",,[613108],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15618,Active,Orphanet+OMIM,OMIM:613115,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type iib",,"Hereditary sensory and autonomic neuropathy type IIB (HSAN2B) is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by {1:Ilgaz Aydinlar et al., 2014}).\n\nHSAN2A ({201300}) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 ({162400}).",[613115],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:15619,Active,Orphanet+OMIM,OMIM:613119,Subtype of disorder,[Disease subtype],Brugada syndrome 6,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[613119],[130],[Brugada syndrome],[1030],,,,, +GARD:15620,Active,Orphanet+OMIM,OMIM:613120,Subtype of disorder,[Disease subtype],Brugada syndrome 7,,"<Subhead> Brugada Syndrome 7\n\nBrugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).\n\n<Subhead> Atrial Fibrillation 16\n\nAtrial fibrillation (AF) is the most common cardiac arrhythmia in the clinical setting, with a prevalence of 1% in the general population; prevalence increases with age and reaches more than 8% in the ninth decade of life. AF accounts for more than 15% of strokes, and is associated with worsening heart failure and increased mortality. More than 30% of cases of AF are considered to be 'lone AF,' unassociated with coronary artery disease, hypertension, valvular heart disease, hyperthyroidism, heart failure, or structural heart disease (summary by {4:Wang et al., 2010}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 ({608583}).",[613120],[130],[Brugada syndrome],[1030],,,,, +GARD:15621,Active,Orphanet+OMIM,OMIM:613122,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1cc",,,[613122],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15622,Active,Orphanet+OMIM,OMIM:613123,Subtype of disorder,[Disease subtype],Brugada syndrome 8,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[613123],[130],[Brugada syndrome],[1030],,,,, +GARD:15623,Active,Orphanet+OMIM,OMIM:613144,Subtype of disorder,[Disease subtype],"Choroidal dystrophy, central areolar, 3","[Choroidal dystrophy, central areolar, with or without drusen]","For a general phenotypic description and a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500}).",[613144],[75377],[Central areolar choroidal dystrophy],[10049],,,,, +GARD:15624,Active,Orphanet+OMIM,OMIM:613150,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2","[Walker-warburg syndrome or muscle-eye-brain disease, pomt2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({5:van Reeuwijk et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613150],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15625,Active,Orphanet+OMIM,OMIM:613153,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5","[Walker-warburg syndrome or muscle-eye-brain disease, fkrp-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({1:Beltran-Valero de Bernabe et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613153],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15626,Active,Orphanet+OMIM,OMIM:613154,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6","[Walker-warburg syndrome or muscle-eye-brain disease, large-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613154],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15627,Active,Orphanet+OMIM,OMIM:613172,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1dd",,,[613172],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15628,Active,Orphanet+OMIM,OMIM:613193,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 13","[Ciliary dyskinesia, primary, 13, with or without situs inversus]",,[613193],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15629,Active,Orphanet+OMIM,OMIM:613194,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 50,,,[613194],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15630,Active,Orphanet+OMIM,OMIM:613211,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia3",,,[613211],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15631,Active,Orphanet+OMIM,OMIM:613216,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1c","[Csnb, complete, autosomal recessive]",,[613216],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15632,Active,Orphanet+OMIM,OMIM:613223,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 5",,,[613223],[548],[Leprosy],[6886],,,,, +GARD:15633,Active,Orphanet+OMIM,OMIM:613225,Subtype of disorder,[Disease subtype],"Factor xiii, a subunit, deficiency of",,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({26:Kangsadalampai et al., 1999}).\n\n{21,22:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.",[613225],[331],[Congenital factor XIII deficiency],[10766],,,,, +GARD:15634,Active,Orphanet+OMIM,OMIM:613227,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[613227],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15635,Active,Orphanet+OMIM,OMIM:613235,Subtype of disorder,[Disease subtype],"Factor xiii, b subunit, deficiency of",,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({4:Kangsadalampai et al., 1999}).\n\n{2,3:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.",[613235],[331],[Congenital factor XIII deficiency],[10766],,,,, +GARD:15636,Active,Orphanet+OMIM,OMIM:613237,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 5,"[Glomerulosclerosis, focal segmental, 5]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nDominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; {614455}) is also caused by heterozygous mutation in the INF2 gene.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[613237],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15637,Active,Orphanet+OMIM,OMIM:613239,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 2",,,[613239],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:15638,Active,Orphanet+OMIM,OMIM:613244,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 8",,,[613244],[144],[Lynch syndrome],[9905],,,,, +GARD:15639,Active,Orphanet+OMIM,OMIM:613252,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ee",,,[613252],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:1564,Active,Orphanet,ORPHA:1525,Disorder,[Malformation syndrome],Cranio-osteoarthropathy,"[Currarino disease, Currarino idiopathic osteoarthropathy, Reginato-Schiapachasse syndrome]","Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.",[259100],,,,,Cranio osteoarthropathy,TRUE,FALSE,Active +GARD:15640,Active,Orphanet+OMIM,OMIM:613254,Subtype of disorder,[Disease subtype],Tuberous sclerosis 2,,"Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 ({191100}), caused by mutation in the TSC1 gene ({605284}) on chromosome 9q34.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).",[613254],[805],[Tuberous sclerosis complex],[7830],,,,, +GARD:15641,Active,Orphanet+OMIM,OMIM:613265,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4b","[Waardenburg syndrome, type 4b, with hirschsprung disease, waardenburg syndrome, type ivb]","Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4B is caused by mutation in the EDN3 gene ({131242}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820}).",[613265],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15642,Active,Orphanet+OMIM,OMIM:613266,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4c","[Waardenburg syndrome with hirschsprung disease, type 4c, waardenburg syndrome, type ivc]","Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4C is caused by mutation in the SOX10 gene ({602229}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820}).",[613266],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15643,Active,Orphanet+OMIM,OMIM:613286,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ff",,,[613286],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15644,Active,Orphanet+OMIM,OMIM:613308,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 9,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[613308],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15645,Active,Orphanet+OMIM,OMIM:613309,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 10,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[613309],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15646,Active,Orphanet+OMIM,OMIM:613310,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 5,,"Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by {4:Poulter et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 ({133780}).",[613310],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15647,Active,Orphanet+OMIM,OMIM:613313,Subtype of disorder,[Disease subtype],"Hemochromatosis, type 2b",,"Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by {5:Roetto et al., 1999}). HFE2B is caused by mutation in the HAMP gene ({606464}). HFE2 is genetically heterogeneous (see HFE2A, {602390}).",[613313],[79230],[Hemochromatosis type 2],[10092],,,,, +GARD:15648,Active,Orphanet+OMIM,OMIM:613318,Subtype of disorder,[Disease subtype],Miyoshi muscular dystrophy 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 ({254130}).",[613318],[45448],[Miyoshi myopathy],[9676],,,,, +GARD:15649,Active,Orphanet+OMIM,OMIM:613345,Subtype of disorder,[Disease subtype],"Hypokalemic periodic paralysis, type 2",,,[613345],[681],[Hypokalemic periodic paralysis],[6729],,,,, +GARD:1565,Legacy,GARD,,,,,,,,,,,,Cranioacrofacial syndrome,TRUE,FALSE,Retired +GARD:15650,Active,Orphanet+OMIM,OMIM:613347,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 2",[Pnca2],,[613347],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15651,Active,Orphanet+OMIM,OMIM:613348,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 3",[Pnca3],,[613348],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15652,Active,Orphanet+OMIM,OMIM:613370,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 10",,,[613370],[552],[MODY],[3697],,,,, +GARD:15653,Active,Orphanet+OMIM,OMIM:613375,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 11",,,[613375],[552],[MODY],[3697],,,,, +GARD:15654,Active,Orphanet+OMIM,OMIM:613382,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type e2",,,[613382],[93387],[Brachydactyly type E],[987],,,,, +GARD:15655,Active,Orphanet+OMIM,OMIM:613388,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 2,,,[613388],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:15656,Active,Orphanet+OMIM,OMIM:613390,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group o",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[613390],[84],[Fanconi anemia],[6425],,,,, +GARD:15657,Active,Orphanet+OMIM,OMIM:613399,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 3",,,[613399],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,,,, +GARD:15658,Active,Orphanet+OMIM,OMIM:613404,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, renal dysfunction, and cholestasis 2",,,[613404],[2697],[Arthrogryposis-renal dysfunction-cholestasis syndrome],[794],,,,, +GARD:15659,Active,Orphanet+OMIM,OMIM:613407,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 6",,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.,[613407],[548],[Leprosy],[6886],,,,, +GARD:15660,Active,Orphanet+OMIM,OMIM:613411,Subtype of disorder,[Malformation syndrome subtype],Oguchi disease 2,"[Night blindness, congenital stationary, oguchi type 2]","Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by {3:Fuchs et al., 1995}).\n\nFor a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 ({258100}).",[613411],[75382],[Oguchi disease],[10118],,,,, +GARD:15661,Active,Orphanet+OMIM,OMIM:613424,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1r",,,[613424],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15662,Active,Orphanet+OMIM,OMIM:613428,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 54,,,[613428],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15663,Active,Orphanet+OMIM,OMIM:613435,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia,,"Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by {3:Maruyama et al., 2010} and {1:Feng et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[613435],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15664,Active,Orphanet+OMIM,OMIM:613454,Subtype of disorder,[Disease subtype],"Rett syndrome, congenital variant",,"The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; {312750}), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene ({300005}).",[613454],[3095],[Atypical Rett syndrome],[4694],,,,, +GARD:15665,Active,Orphanet+OMIM,OMIM:613464,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 51,,,[613464],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15666,Active,Orphanet+OMIM,OMIM:613485,Subtype of disorder,[Disease subtype],Long qt syndrome 13,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613485],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:15667,Active,Orphanet+OMIM,OMIM:613488,Subtype of disorder,[Histopathological subtype],Myxoid liposarcoma,,"Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by {4:Dei Tos, 2000}).",[613488],[99967],[Myxoid/round cell liposarcoma],[7157],,,,, +GARD:15668,Active,Orphanet+OMIM,OMIM:613493,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 3",[Antibody deficiency due to cd19 defect],,[613493],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15669,Active,Orphanet+OMIM,OMIM:613494,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 4",[Antibody deficiency due to baffr defect],,[613494],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:1567,Active,Orphanet,ORPHA:1513,Disorder,[Malformation syndrome],Craniodiaphyseal dysplasia,,"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.","[122860, 218300]",,,,,Craniodiaphyseal dysplasia,TRUE,FALSE,Active +GARD:15670,Active,Orphanet+OMIM,OMIM:613495,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 5",[Antibody deficiency due to cd20 defect],,[613495],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15671,Active,Orphanet+OMIM,OMIM:613496,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 6",[Antibody deficiency due to cd81 defect],,[613496],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15672,Active,Orphanet+OMIM,OMIM:613500,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 2, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to igll1 defect]",,[613500],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15673,Active,Orphanet+OMIM,OMIM:613501,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 3, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to cd79a defect]",,[613501],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15674,Active,Orphanet+OMIM,OMIM:613502,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 4, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to blnk defect]",,[613502],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15675,Active,Orphanet+OMIM,OMIM:613506,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 5, autosomal dominant","[Agammaglobulinemia, autosomal dominant, due to lrrc8a defect]",,[613506],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15676,Active,Orphanet+OMIM,OMIM:613561,Subtype of disorder,[Disease subtype],"Myopathy, lactic acidosis, and sideroblastic anemia 2",,"Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by {3:Riley et al., 2013}).\n\nFor a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).",[613561],[2598],[Mitochondrial myopathy and sideroblastic anemia],[3885],,,,, +GARD:15677,Active,Orphanet+OMIM,OMIM:613575,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 55,,,[613575],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15678,Active,Orphanet+OMIM,OMIM:613581,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 56,,"Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity ({1:Bandah-Rozenfeld et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[613581],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15679,Active,Orphanet+OMIM,OMIM:613582,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 57,,,[613582],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1568,Legacy,GARD,,,,,,,,,,,,Craniodigital syndrome mental retardation,TRUE,FALSE,Retired +GARD:15680,Active,Orphanet+OMIM,OMIM:613610,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 2,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[613610],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15681,Active,Orphanet+OMIM,OMIM:613615,Subtype of disorder,[Disease subtype],Senior-loken syndrome 7,,,[613615],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15682,Active,Orphanet+OMIM,OMIM:613617,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 58,,,[613617],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15683,Active,Orphanet+OMIM,OMIM:613640,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type ic","[Hsan ic, hsn ic, neuropathy, hereditary sensory, type ic]","Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by {7:Rotthier et al., 2010}, {4:Gantner et al., 2019}, and {9:Triplett et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({3:Fridman et al., 2019}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).",[613640],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15684,Active,Orphanet+OMIM,OMIM:613642,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1gg",,,[613642],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15685,Active,Orphanet+OMIM,OMIM:613657,Subtype of disorder,[Disease subtype],D-2-hydroxyglutaric aciduria 2,,,[613657],[79315],[D-2-hydroxyglutaric aciduria],[5661],,,,, +GARD:15686,Active,Orphanet+OMIM,OMIM:613660,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 15,,,[613660],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15687,Active,Orphanet+OMIM,OMIM:613676,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 4,,"Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features ({2:Faivre et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.",[613676],[808],[Seckel syndrome],[8562],,,,, +GARD:15688,Active,Orphanet+OMIM,OMIM:613681,Subtype of disorder,[Malformation syndrome subtype],Chromosome 2q31.1 duplication syndrome,,,[613681],[1836],"[Mesomelic dysplasia, Kantaputra type]",[3074],,,,, +GARD:15689,Active,Orphanet+OMIM,OMIM:613694,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1u",,,[613694],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15690,Active,Orphanet+OMIM,OMIM:613697,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1v",,,[613697],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15691,Active,Orphanet+OMIM,OMIM:613702,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 3, autosomal dominant",,"Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({1:Tracy et al., 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100}).",[613702],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15692,Active,Orphanet+OMIM,OMIM:613703,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 6",,,[613703],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15693,Active,Orphanet+OMIM,OMIM:613706,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 7,,"Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by {1:Sarkozy et al., 2009}).",[613706],[648],[Noonan syndrome],[10955],,,,, +GARD:15694,Active,Orphanet+OMIM,OMIM:613707,Subtype of disorder,[Malformation syndrome subtype],Leopard syndrome 3,,,[613707],[500],[Noonan syndrome with multiple lentigines],[1100],,,,, +GARD:15695,Active,Orphanet+OMIM,OMIM:613708,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type id",,"Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by {1:Guelly et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).\n\nSpastic paraplegia-3A (SPG3A; {182600}) is an allelic disorder with a different phenotype.",[613708],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15696,Active,Orphanet+OMIM,OMIM:613711,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 3",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\n{6:Hofstra et al. (1997)} discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.",[613711],[388],[Hirschsprung disease],[6660],,,,, +GARD:15697,Active,Orphanet+OMIM,OMIM:613712,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 4",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.",[613712],[388],[Hirschsprung disease],[6660],,,,, +GARD:15698,Active,Orphanet+OMIM,OMIM:613717,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 2,,"Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500}).",[613717],[861],[Treacher-Collins syndrome],[9124],,,,, +GARD:15699,Active,Orphanet+OMIM,OMIM:613721,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 11,"[Epileptic encephalopathy, early infantile, 11]","Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by {6:Ogiwara et al., 2009}; {4:Howell et al., 2015}; {10:Wolff et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[613721],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:157,Active,Orphanet,ORPHA:2155,Disorder,[Malformation syndrome],Hirschsprung disease-deafness-polydactyly syndrome,"[Hirschsprung disease-hearing loss-polydactyly syndrome, Santos-Mateus-Leal syndrome]","Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.",[235740],,,,,Santos Mateus Leal syndrome,TRUE,FALSE,Active +GARD:1570,Legacy,GARD,,,,,,,,,,,,Craniofacial and skeletal defects,TRUE,FALSE,Active +GARD:15700,Active,Orphanet+OMIM,OMIM:613750,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 27,,,[613750],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15701,Active,Orphanet+OMIM,OMIM:613756,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 49,,,[613756],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15702,Active,Orphanet+OMIM,OMIM:613758,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 47,,,[613758],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15703,Active,Orphanet+OMIM,OMIM:613762,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 6","[46,xy sex reversal, partial or complete, map3k1-related, 46,xy gonadal dysgenesis, partial or complete, map3k1-related]",,[613762],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15704,Active,Orphanet+OMIM,OMIM:613767,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 45,,,[613767],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15705,Active,Orphanet+OMIM,OMIM:613769,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 44,,,[613769],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15706,Active,Orphanet+OMIM,OMIM:613780,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 7","[Aortic dissection, familial, with or without aortic aneurysm]",,[613780],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15707,Active,Orphanet+OMIM,OMIM:613783,Subtype of disorder,[Disease subtype],Complement component c1s deficiency,[C1s deficiency],,[613783],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15708,Active,Orphanet+OMIM,OMIM:613800,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 2,,,[613800],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15709,Active,Orphanet+OMIM,OMIM:613801,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 40,,,[613801],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1571,Active,Orphanet,ORPHA:1529,Disorder,[Malformation syndrome],Craniofacial-deafness-hand syndrome,"[CDHS, Craniofacial-hearing loss-hand syndrome, Sommer-Young-Wee-Frye syndrome]","A rare autosomal dominant, multiple congenital anomalies syndrome characterized by facial dysmorphism (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural deafness, ulnar deviations and contractures of the hand. This disorder is allelic to Waardenburg syndrome, and distinguished by the imaging findings and distinct facial features.",[122880],,,,,Craniofacial deafness hand syndrome,TRUE,FALSE,Active +GARD:15710,Active,Orphanet+OMIM,OMIM:613803,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 3,,,[613803],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15711,Active,Orphanet+OMIM,OMIM:613804,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 4,,,[613804],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15712,Active,Orphanet+OMIM,OMIM:613805,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 5,,,[613805],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15713,Active,Orphanet+OMIM,OMIM:613807,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 14","[Ciliary dyskinesia, primary, 14, with or without situs inversus]","Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization ({3:Merveille et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[613807],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15714,Active,Orphanet+OMIM,OMIM:613808,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 15","[Ciliary dyskinesia, primary, 15, with or without situs inversus]","Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by {2:Becker-Heck et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[613808],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15715,Active,Orphanet+OMIM,OMIM:613809,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 39,,,[613809],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15716,Active,Orphanet+OMIM,OMIM:613810,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 43,,,[613810],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15717,Active,Orphanet+OMIM,OMIM:613811,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2d","[Cerebellocerebral atrophy, progressive]","PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by {2:Ben-Zeev et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[613811],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15718,Active,Orphanet+OMIM,OMIM:613819,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 4 with or without polydactyly,[Asphyxiating thoracic dystrophy 4],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[613819],[474],[Jeune syndrome],[3049],,,,, +GARD:15719,Active,Orphanet+OMIM,OMIM:613823,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 5,,"Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by {1:Kalay et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.",[613823],[808],[Seckel syndrome],[8562],,,,, +GARD:15720,Active,Orphanet+OMIM,OMIM:613827,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 48,,,[613827],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15721,Active,Orphanet+OMIM,OMIM:613830,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1d","[Csnb, complete, autosomal recessive]","CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {2:Riazuddin et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[613830],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15722,Active,Orphanet+OMIM,OMIM:613849,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xii","[Oi, type xii]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by {2:Lapunzina et al., 2010}).",[613849],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:15723,Active,Orphanet+OMIM,OMIM:613856,Subtype of disorder,[Disease subtype],Achromatopsia 4,,"Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus ({2:Kohl et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}.",[613856],[49382],[Achromatopsia],[15015],,,,, +GARD:15724,Active,Orphanet+OMIM,OMIM:613861,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 59,,,[613861],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15725,Active,Orphanet+OMIM,OMIM:613862,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 38,"[Rod-cone dystrophy, childhood-onset]","Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by {4:Mackay et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[613862],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15726,Active,Orphanet+OMIM,OMIM:613881,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1hh",,,[613881],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15727,Active,Orphanet+OMIM,OMIM:613885,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 8",,"Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by {1:Shaheen et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[613885],[564],[Meckel syndrome],[3436],,,,, +GARD:15728,Active,Orphanet+OMIM,OMIM:613925,Subtype of disorder,[Disease subtype],Megalencephalic leukoencephalopathy with subcortical cysts 2a,,"Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by {1:Lopez-Hernandez et al., 2011}).\n\nHeterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B; {613926}).",[613925],[2478],[Megalencephalic leukoencephalopathy with subcortical cysts],[3445],,,,, +GARD:15729,Active,Orphanet+OMIM,OMIM:613926,Subtype of disorder,[Disease subtype],"Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation",,"Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by {2:van der Knaap et al., 2010} and {1:Lopez-Hernandez et al., 2011}).\n\nHomozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A; {613925}).\n\nFor a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 ({604004}).",[613926],"[210548, 2478]","[Macrocephaly-intellectual disability-autism syndrome, Megalencephalic leukoencephalopathy with subcortical cysts]","[3445, 17112]",,,,, +GARD:1573,Legacy,GARD,,,,,,,,,,,,Craniofacial dysostosis arthrogryposis progeroid appearence,TRUE,FALSE,Active +GARD:15730,Active,Orphanet+OMIM,OMIM:613930,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 3,,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).",[613930],[2850],[Alopecia-intellectual disability syndrome],[612],,,,, +GARD:15731,Active,Orphanet+OMIM,OMIM:613951,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group p",,"Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by {2:Kim et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.",[613951],[84],[Fanconi anemia],[6425],,,,, +GARD:15732,Active,Orphanet+OMIM,OMIM:613953,Subtype of disorder,[Disease subtype],Immunodeficiency 51,"[Candidiasis, familial, 5, formerly]","Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A ({603149}), IL17F ({606496}), IL17A/F, and IL17E (IL25; {605658}) (summary by {2:Levy et al., 2016}).",[613953],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15733,Active,Orphanet+OMIM,OMIM:613954,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,"[Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly]","Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; {605078}) or p62 (SQSTM1; {601530}) aggregates. Patients with a D395G mutation ({601023.0014}) have been shown to develop pathologic tau (MAPT; {157140}) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by {4:Johnson et al., 2010}; {7:Wong et al., 2018}; {2:Al-Obeidi et al., 2018}; {3:Darwich et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[613954],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:15734,Active,Orphanet+OMIM,OMIM:613957,Subtype of disorder,[Disease subtype],Spermatogenic failure 8,,,[613957],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15735,Active,Orphanet+OMIM,OMIM:613958,Subtype of disorder,[Clinical subtype],Spermatogenic failure 9,"[globozoospermia, total, Globozoospermia, complete]","Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by {3:Harbuz et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[613958],[171709],[Male infertility due to globozoospermia],[12502],,,,, +GARD:15736,Active,Orphanet+OMIM,OMIM:613960,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 3","[cgd, autosomal recessive cytochrome b-positive, type iii, granulomatous disease, chronic, due to ncf4 deficiency, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii]","Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by {2:Matute et al., 2009}; {4:van de Geer et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400}).",[613960],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15737,Active,Orphanet+OMIM,OMIM:613980,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 9",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[613980],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15738,Active,Orphanet+OMIM,OMIM:613983,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 60,,,[613983],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15739,Active,Orphanet+OMIM,OMIM:613987,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 2",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by {1:Vulliamy et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613987],[1775],[Dyskeratosis congenita],[10905],,,,, +GARD:15740,Active,Orphanet+OMIM,OMIM:613988,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 3",,"Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by {2:Zhong et al., 2011}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613988],[1775],[Dyskeratosis congenita],[10905],,,,, +GARD:15741,Active,Orphanet+OMIM,OMIM:613989,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 2",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by {1:Armanios et al., 2005}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613989],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15742,Active,Orphanet+OMIM,OMIM:613990,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 3",,"Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by {3:Savage et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 ({127550}).",[613990],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15743,Active,Orphanet+OMIM,OMIM:614017,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 16","[Ciliary dyskinesia, primary, 16, with or without situs inversus]","Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms ({1:Mazor et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[614017],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15744,Active,Orphanet+OMIM,OMIM:614021,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 3",,"Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see {192500}) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by {2:Devalla et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see {604772}.",[614021],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15745,Active,Orphanet+OMIM,OMIM:614022,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 10",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[614022],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15746,Active,Orphanet+OMIM,OMIM:614042,Subtype of disorder,[Disease subtype],Moyamoya disease 5,,"Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by {2:Roder et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[614042],[2573],[Moyamoya disease],[7064],,,,, +GARD:15747,Active,Orphanet+OMIM,OMIM:614049,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 11",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[614049],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15748,Active,Orphanet+OMIM,OMIM:614050,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 12",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[614050],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15749,Active,Orphanet+OMIM,OMIM:614066,Subtype of disorder,[Disease subtype],"Spastic paraplegia 47, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 5, formerly]","Spastic paraplegia-47 (SPG47) is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {2:Abou Jamra et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[614066],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:1575,Active,Orphanet,ORPHA:1516,Disorder,[Malformation syndrome],Non-syndromic bilambdoid and sagittal craniosynostosis,"[BLSS, Bilateral lambdoid and sagittal synostosis, Isolated sagittal and bilambdoid craniosynostosis, Non-syndromic sagittal and bilateral lambdoid synostosis]","A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.",[218350],,,,,Craniofacial dyssynostosis,TRUE,FALSE,Active +GARD:15750,Active,Orphanet+OMIM,OMIM:614067,Subtype of disorder,[Disease subtype],"Spastic paraplegia 52, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 6, formerly]","Spastic quadriplegia-52 (SPG52) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {1:Abou Jamra et al., 2011}). Some patients may have seizures ({2:Hardies et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[614067],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:15751,Active,Orphanet+OMIM,OMIM:614069,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 2,,"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by {2:de Greef et al., 2011}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[614069],[2268],[ICF syndrome],[2945],,,,, +GARD:15752,Active,Orphanet+OMIM,OMIM:614079,Subtype of disorder,[Disease subtype],"Aspergillosis, susceptibility to",,"Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by {6:Cunha et al., 2010}).\n\nFor information on familial occurrence of allergic bronchopulmonary aspergillosis, see {103920}.",[614079],[1163],[Aspergillosis],[5856],,,,, +GARD:15753,Active,Orphanet+OMIM,OMIM:614082,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group g",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[614082],[84],[Fanconi anemia],[6425],,,,, +GARD:15754,Active,Orphanet+OMIM,OMIM:614083,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group l",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[614083],[84],[Fanconi anemia],[6425],,,,, +GARD:15755,Active,Orphanet+OMIM,OMIM:614089,Subtype of disorder,[Clinical subtype],Atrial septal defect 3,,,[614089],[99103],"[Atrial septal defect, ostium secundum type]",[5865],,,,, +GARD:15756,Active,Orphanet+OMIM,OMIM:614091,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 7 with or without polydactyly,"[Short rib-polydactyly syndrome, type v]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {6:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[614091],[93271],"[Short rib-polydactyly syndrome, Verma-Naumoff type]",[4835],,,,, +GARD:15757,Active,Orphanet+OMIM,OMIM:614099,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 3,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[614099],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15758,Active,Orphanet+OMIM,OMIM:614114,Subtype of disorder,[Malformation syndrome subtype],Mosaic variegated aneuploidy syndrome 2,,"Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by {4:Snape et al., 2011}).\n\nSee also MVA1 ({257300}), caused by mutation in the BUB1B gene ({602860}) on chromosome 15q15.",[614114],[1052],[Mosaic variegated aneuploidy syndrome],[3007],,,,, +GARD:15759,Active,Orphanet+OMIM,OMIM:614120,Subtype of disorder,[Malformation syndrome subtype],Hydrolethalus syndrome 2,,"Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by {1:Putoux et al., 2011}).\n\nAcrocallosal syndrome (ACLS; {200990}) is an allelic disorder with a less severe phenotype.\n\nFor a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.",[614120],[2189],[Hydrolethalus],[6683],,,,, +GARD:15760,Active,Orphanet+OMIM,OMIM:614129,Subtype of disorder,[Disease subtype],Perrault syndrome 3,"[Deafness, autosomal recessive 81, formerly]","Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by {4:Jenkinson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[614129],[2855],[Perrault syndrome],[2542],,,,, +GARD:15761,Active,Orphanet+OMIM,OMIM:614131,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 6,"[Glomerulosclerosis, focal segmental, 6]","Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by {2:Mele et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[614131],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15762,Active,Orphanet+OMIM,OMIM:614149,Subtype of disorder,[Clinical subtype],"Nail disorder, nonsyndromic congenital, 9",,"Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by {1:Rafiq et al., 2004}). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050}).",[614149],[90390],[Anonychia-onychodystrophy syndrome],[710],,,,, +GARD:15763,Active,Orphanet+OMIM,OMIM:614165,Subtype of disorder,[Disease subtype],Paragangliomas 5,,,[614165],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:15764,Active,Orphanet+OMIM,OMIM:614170,Subtype of disorder,[Disease subtype],Brittle cornea syndrome 2,,"Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ({1:Al-Hussain et al., 2004}). It is classified as a form of Ehlers-Danlos syndrome ({5:Malfait et al., 2017}).\n\nFor a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 ({229200}).",[614170],[90354],[Brittle cornea syndrome],[1019],,,,, +GARD:15765,Active,Orphanet+OMIM,OMIM:614173,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 13,,,[614173],[475],[Joubert syndrome],[6802],,,,, +GARD:15766,Active,Orphanet+OMIM,OMIM:614180,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 61,,,[614180],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15767,Active,Orphanet+OMIM,OMIM:614181,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 62,,,[614181],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15768,Active,Orphanet+OMIM,OMIM:614185,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 2,,,[614185],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:15769,Active,Orphanet+OMIM,OMIM:614190,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 3","[Cushing syndrome, adrenal, due to ppnad3]",,[614190],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:15770,Active,Orphanet+OMIM,OMIM:614196,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 6",,"The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by {1:Ozaltin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[614196],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15771,Active,Orphanet+OMIM,OMIM:614198,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 16","[Myasthenic syndrome, congenital, acetazolamide-responsive]","Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by {1:Arnold et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[614198],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15772,Active,Orphanet+OMIM,OMIM:614205,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 3,[3m syndrome 3],"3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by {2:Hanson et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750}).",[614205],[2616],[3M syndrome],[5667],,,,, +GARD:15773,Active,Orphanet+OMIM,OMIM:614209,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 9",,"Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by {1:Hopp et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[614209],[564],[Meckel syndrome],[3436],,,,, +GARD:15774,Active,Orphanet+OMIM,OMIM:614213,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type iic",,"HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by {1:Riviere et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1 ({162400}).",[614213],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:15775,Active,Orphanet+OMIM,OMIM:614219,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 2,,"Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by {10:Shaheen et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[614219],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15776,Active,Orphanet+OMIM,OMIM:614220,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 4",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[614220],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15777,Active,Orphanet+OMIM,OMIM:614221,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 5",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[614221],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15778,Active,Orphanet+OMIM,OMIM:614222,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 3,[Micro syndrome 3],"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {5:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.",[614222],[2510],[Micro syndrome],[5534],,,,, +GARD:15779,Active,Orphanet+OMIM,OMIM:614223,Subtype of disorder,[Disease subtype],"Narcolepsy 6, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[614223],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:1578,Active,Orphanet,ORPHA:1520,Disorder,[Malformation syndrome],Craniofrontonasal dysplasia,"[CFND, CFNS, Craniofrontonasal syndrome]","A rare X-linked malformation syndrome characterized by craniofacial abnormalities, grooved nails, intellectual disability and various skeletal and soft tissue abnormalities.",[304110],,,,,Craniofrontonasal dysplasia,TRUE,FALSE,Active +GARD:15780,Active,Orphanet+OMIM,OMIM:614225,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 2,[Micro syndrome 2],,[614225],[2510],[Micro syndrome],[5534],,,,, +GARD:15781,Active,Orphanet+OMIM,OMIM:614237,Subtype of disorder,[Disease subtype],Hypotrichosis 9,,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[614237],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15782,Active,Orphanet+OMIM,OMIM:614238,Subtype of disorder,[Disease subtype],Hypotrichosis 10,,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[614238],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15783,Active,Orphanet+OMIM,OMIM:614250,Subtype of disorder,[Disease subtype],Narcolepsy 7,,,[614250],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15784,Active,Orphanet+OMIM,OMIM:614280,Subtype of disorder,[Disease subtype],"Epilepsy, juvenile myoclonic, susceptibility to, 9",,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[614280],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15785,Active,Orphanet+OMIM,OMIM:614291,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 4",,,[614291],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,,,, +GARD:15786,Active,Orphanet+OMIM,OMIM:614305,Subtype of disorder,[Malformation syndrome subtype],Sclerosteosis 2,,"Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {1:Brunkow et al., 2001}).\n\nFor a discussion of genetic heterogeneity of sclerosteosis, see SOST1 ({269500}).",[614305],[3152],[Sclerosteosis],[4771],,,,, +GARD:15787,Active,Orphanet+OMIM,OMIM:614307,Subtype of disorder,[Disease subtype],Alpha-methylacyl-coa racemase deficiency,[Amacr deficiency],"AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by {5:Smith et al., 2010}).",[614307],[79095],[Congenital bile acid synthesis defect type 4],[10046],,,,, +GARD:15788,Active,Orphanet+OMIM,OMIM:614320,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 4",,,[614320],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15789,Active,Orphanet+OMIM,OMIM:614331,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 6","[Colon cancer, hereditary nonpolyposis, type 6]",,[614331],[144],[Lynch syndrome],[9905],,,,, +GARD:1579,Legacy,GARD,,,,,,,,,,,,Craniofrontonasal syndrome Teebi type,TRUE,FALSE,Active +GARD:15790,Active,Orphanet+OMIM,OMIM:614335,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 1b",,,[614335],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:15791,Active,Orphanet+OMIM,OMIM:614337,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 4",,,[614337],[144],[Lynch syndrome],[9905],,,,, +GARD:15792,Active,Orphanet+OMIM,OMIM:614350,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 5",,"Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by {2:Castellsague et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 ({120435}).",[614350],[144],[Lynch syndrome],[9905],,,,, +GARD:15793,Active,Orphanet+OMIM,OMIM:614370,Subtype of disorder,[Disease subtype],"Surfactant metabolism dysfunction, pulmonary, 5","[pap due to csf2rb deficiency, csf2rb deficiency, Pulmonary alveolar proteinosis 5]","Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by {2:Greenhill and Kotton, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).",[614370],[264675],[Hereditary pulmonary alveolar proteinosis],[4582],,,,, +GARD:15794,Active,Orphanet+OMIM,OMIM:614373,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 16, juvenile",,,[614373],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15795,Active,Orphanet+OMIM,OMIM:614376,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 5 with or without polydactyly,[Asphyxiating thoracic dystrophy 5],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[614376],[474],[Jeune syndrome],[3049],,,,, +GARD:15796,Active,Orphanet+OMIM,OMIM:614378,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 4,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[614378],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15797,Active,Orphanet+OMIM,OMIM:614379,Subtype of disorder,[Disease subtype],Complement component 4b deficiency,[C4b deficiency],,[614379],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15798,Active,Orphanet+OMIM,OMIM:614380,Subtype of disorder,[Disease subtype],Complement component 4a deficiency,[C4a deficiency],,[614380],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15799,Active,Orphanet+OMIM,OMIM:614385,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 7",,,[614385],[144],[Lynch syndrome],[9905],,,,, +GARD:158,Active,Orphanet,ORPHA:3129,Disorder,[Disease],Sarcosinemia,[Sarcosine dehydrogenase complex deficiency],A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.,[268900],,,,,Sarcosinemia,TRUE,FALSE,Active +GARD:15800,Active,Orphanet+OMIM,OMIM:614422,Subtype of disorder,[Clinical subtype],Cataract 37,,,[614422],[98989],[Cerulean cataract],[9508],,,,, +GARD:15801,Active,Orphanet+OMIM,OMIM:614424,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 14,,"Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by {1:Boycott et al., 2007} and {3:Huang et al., 2011}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614424],"[475, 2318, 220493, 220497]","[Joubert syndrome with renal defect, Joubert syndrome with oculorenal defect, Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 10169, 6802, 9455]",,,,, +GARD:15802,Active,Orphanet+OMIM,OMIM:614434,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 2",,"Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by {1:Markova et al., 2003}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 ({123700}).",[614434],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:15803,Active,Orphanet+OMIM,OMIM:614435,Subtype of disorder,[Morphological anomaly subtype],Hypoplastic left heart syndrome 2,,"Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged ({1:Brekke, 1953}).\n\nFor a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 ({241550}).",[614435],[2248],[Hypoplastic left heart syndrome],[6739],,,,, +GARD:15804,Active,Orphanet+OMIM,OMIM:614437,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal recessive, type ib",,"Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by {4:Hoyer et al., 2009}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).",[614437],[90349],[Autosomal recessive cutis laxa type 1],[8480],,,,, +GARD:15805,Active,Orphanet+OMIM,OMIM:614441,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal recessive, 2","[Pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive]","Autosomal recessive primary hypertrophic osteoarthropathy-2 (PHOAR2) is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Pain and swelling of ankles and knees, watery diarrhea, and excessive sweating are often present. Males are more frequently and severely affected (summary by {9:Zhang et al., 2013}, {6:Li et al., 2017}).\n\nFor a discussion of genetic heterogeneity of PHO, see PHOAR1 ({259100}).",[614441],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15806,Active,Orphanet+OMIM,OMIM:614464,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 15,,"Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614464],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:15807,Active,Orphanet+OMIM,OMIM:614465,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 16,,"Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 ({608091}) (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614465],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:15808,Active,Orphanet+OMIM,OMIM:614483,Subtype of disorder,[Etiological subtype],Brain small vessel disease 2,"[Porencephaly 2, formerly]","Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by {2:Yoneda et al., 2012}).\n\nFor a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 ({175780}).",[614483],[99810],[Familial porencephaly],[2258],,,,, +GARD:15809,Active,Orphanet+OMIM,OMIM:614493,Subtype of disorder,[Disease subtype],Wiskott-aldrich syndrome 2,"[Wipf1 deficiency, wip deficiency]","Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by {3:Lanzi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS ({301000}).",[614493],[906],[Wiskott-Aldrich syndrome],[7895],,,,, +GARD:1581,Active,Orphanet+OMIM,OMIM:123000,Subtype of disorder,[Malformation syndrome subtype],"Craniometaphyseal dysplasia, autosomal dominant","[craniometaphyseal dysplasia, jackson type, Cmd]","Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy (summary by {16:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant and autosomal recessive (CMDR; {218400}) forms of CMD by {7:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.",[123000],[1522],[Craniometaphyseal dysplasia],[15013],,"Craniometaphyseal dysplasia, autosomal dominant",TRUE,FALSE,Active +GARD:15810,Active,Orphanet+OMIM,OMIM:614494,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 63,,"For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[614494],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15811,Active,Orphanet+OMIM,OMIM:614497,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 7",,,[614497],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15812,Active,Orphanet+OMIM,OMIM:614500,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 16,[Retinal dystrophy with early macular involvement],"Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by {1:Estrada-Cuzcano et al., 2012}).",[614500],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15813,Active,Orphanet+OMIM,OMIM:614504,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iiib",,"Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({1:Karjalainen et al., 1985}; {2:Pakarinen et al., 1995}).\n\nFor a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A ({276902}).",[614504],[231183],[Usher syndrome type 3],[5442],,,,, +GARD:15814,Active,Orphanet+OMIM,OMIM:614508,Subtype of disorder,[Disease subtype],Mirror movements 2,,"Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild mirror movements are physiologic in young children and gradually disappear within the first decade of life, likely due to maturation of the motor network. Mirror movements that persist beyond age 10 years represent a rare disorder usually showing autosomal dominant inheritance with incomplete penetrance (summary by {1:Depienne et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600}).",[614508],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:15815,Active,Orphanet+OMIM,OMIM:614524,Subtype of disorder,[Disease subtype],Fibrochondrogenesis 2,,"Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by {1:Tompson et al., 2012}).\n\nFor a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 ({228520}).",[614524],[2021],[Fibrochondrogenesis],[2321],,,,, +GARD:15816,Active,Orphanet+OMIM,OMIM:614565,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1e","[Csnb, complete, autosomal recessive]","Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by {3:Peachey et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[614565],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15817,Active,Orphanet+OMIM,OMIM:614583,Subtype of disorder,[Malformation syndrome subtype],Baraitser-winter syndrome 2,,,[614583],[2995],[Baraitser-Winter cerebrofrontofacial syndrome],[5279],,,,, +GARD:15818,Active,Orphanet+OMIM,OMIM:614594,Subtype of disorder,[Disease subtype],Olmsted syndrome 1,"[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1]","Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by {6:Lin et al., 2012}). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes ({8:Olmsted, 1927}).\n\n<Subhead> Genetic Heterogeneity of Olmsted Syndrome\n\nOLMS2 ({619208}) is caused by mutation in the PERP gene ({609301}) on chromosome 6q23.\n\nAn X-linked form of Olmsted syndrome (OLMSX; {300918}) is caused by mutation in the MBTPS2 gene ({300294}) on chromosome Xp22.",[614594],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:15819,Active,Orphanet+OMIM,OMIM:614602,Subtype of disorder,[Disease subtype],Trichohepatoenteric syndrome 2,,"Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by {2:Fabre et al., 2012}).\n\nFor a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 ({222470}).",[614602],[84064],[Syndromic diarrhea],[5258],,,,, +GARD:1582,Active,Orphanet+OMIM,OMIM:218400,Subtype of disorder,[Malformation syndrome subtype],"Craniometaphyseal dysplasia, autosomal recessive",,"Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by {10:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant (CMDD; {123000}) and autosomal recessive forms of CMD by {2:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.",[218400],[1522],[Craniometaphyseal dysplasia],[15013],,"Craniometaphyseal dysplasia, autosomal recessive type",TRUE,FALSE,Active +GARD:15820,Active,Orphanet+OMIM,OMIM:614607,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 2,"[Mental retardation, autosomal dominant 14]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by {3:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).\n\nThe chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.",[614607],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15821,Active,Orphanet+OMIM,OMIM:614608,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 3,"[Mental retardation, autosomal dominant 15]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by {2:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[614608],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15822,Active,Orphanet+OMIM,OMIM:614609,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 4,"[Mental retardation, autosomal dominant 16]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[614609],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15823,Active,Orphanet+OMIM,OMIM:614613,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Acrodysostosis 2 with or without hormone resistance,,"Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by {5:Michot et al., 2012} and {2:Lee et al., 2012}).\n\nFor a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 ({101800}).",[614613],"[280651, 950]","[Acrodysostosis with multiple hormone resistance, Acrodysostosis]","[5724, 17300]",,,,, +GARD:15824,Active,Orphanet+OMIM,OMIM:614615,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 17,,,[614615],[475],[Joubert syndrome],[6802],,,,, +GARD:15825,Active,Orphanet+OMIM,OMIM:614618,Subtype of disorder,[Disease subtype],Hyperekplexia 3,,,[614618],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:15826,Active,Orphanet+OMIM,OMIM:614619,Subtype of disorder,[Disease subtype],Hyperekplexia 2,,,[614619],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:15827,Active,Orphanet+OMIM,OMIM:614621,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 2,,"UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {1:Nardo et al., 2009}).\n\nSee also Cockayne syndrome type A (CSA; {216400}), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630}).",[614621],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15828,Active,Orphanet+OMIM,OMIM:614640,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 3,,"UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {4:Itoh et al., 1994} and {7:Nakazawa et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630}).",[614640],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15829,Active,Orphanet+OMIM,OMIM:614643,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7","[Walker-warburg syndrome or muscle-eye-brain disease, ispd-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {3:Roscioli et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[614643],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:1583,Active,Orphanet,ORPHA:1524,Disorder,[Malformation syndrome],Craniomicromelic syndrome,,"A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.",[602558],,,,,Craniomicromelic syndrome,TRUE,FALSE,Active +GARD:15830,Active,Orphanet+OMIM,OMIM:614662,Subtype of disorder,[Malformation syndrome subtype],Cortisone reductase deficiency 2,,"Cortisone reductase deficiency is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; {138090}), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CORTRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {1:Lawson et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 ({604931}).",[614662],[168588],[Hyperandrogenism due to cortisone reductase deficiency],[9882],,,,, +GARD:15831,Active,Orphanet+OMIM,OMIM:614669,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 2,,"Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by {5:Rieder et al., 2012}).\n\nFor a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483}).",[614669],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15832,Active,Orphanet+OMIM,OMIM:614672,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2b",,,[614672],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15833,Active,Orphanet+OMIM,OMIM:614673,Subtype of disorder,[Etiological subtype],"Microcephaly 8, primary, autosomal recessive",,,[614673],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15834,Active,Orphanet+OMIM,OMIM:614678,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1b",,"Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by {9:Wan et al., 2012}). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by {3:Halevy et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[614678],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:15835,Active,Orphanet+OMIM,OMIM:614679,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 17","[Ciliary dyskinesia, primary, 17, with or without situs inversus]","Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by {2:Panizzi et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[614679],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15836,Active,Orphanet+OMIM,OMIM:614699,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 7",,,[614699],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15837,Active,Orphanet+OMIM,OMIM:614701,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 4 with or without midline brain defects,,,[614701],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:15838,Active,Orphanet+OMIM,OMIM:614714,Subtype of disorder,[Disease subtype],"Porokeratosis 7, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVD gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.'\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[614714],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15839,Active,Orphanet+OMIM,OMIM:614731,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 2",,,[614731],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1584,Legacy,GARD,,,,,,,,,,,,Craniostenosis cataract,TRUE,FALSE,Active +GARD:15840,Active,Orphanet+OMIM,OMIM:614736,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency,,"Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by {3:Meimaridou et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[614736],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15841,Active,Orphanet+OMIM,OMIM:614808,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 18,,,[614808],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15842,Active,Orphanet+OMIM,OMIM:614814,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 3,,"{1:Hassed et al. (2012)} described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[614814],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15843,Active,Orphanet+OMIM,OMIM:614815,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 18,,,[614815],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:15844,Active,Orphanet+OMIM,OMIM:614819,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 3,,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({1:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.",[614819],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15845,Active,Orphanet+OMIM,OMIM:614820,Subtype of disorder,[Disease subtype],Alternating hemiplegia of childhood 2,,"Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by {2:Heinzen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 ({104290}).",[614820],[2131],[Alternating hemiplegia of childhood],[11],,,,, +GARD:15846,Active,Orphanet+OMIM,OMIM:614830,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","[Walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by {1:Manzini et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[614830],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15847,Active,Orphanet+OMIM,OMIM:614832,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia4",,,[614832],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15848,Active,Orphanet+OMIM,OMIM:614834,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 3",,"For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to thyrotoxic periodic paralysis, see {188580}.",[614834],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:15849,Active,Orphanet+OMIM,OMIM:614837,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 8 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {6:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614837],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:1585,Legacy,GARD,,,,,,,,,,,,Craniostenosis with congenital heart disease mental retardation,TRUE,FALSE,Retired +GARD:15850,Active,Orphanet+OMIM,OMIM:614838,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 9 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614838],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15851,Active,Orphanet+OMIM,OMIM:614840,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 11 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614840],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15852,Active,Orphanet+OMIM,OMIM:614845,Subtype of disorder,[Disease subtype],Nephronophthisis 15,,,[614845],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15853,Active,Orphanet+OMIM,OMIM:614849,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5","[Herpes simplex encephalitis, susceptibility to, 3]",,[614849],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15854,Active,Orphanet+OMIM,OMIM:614850,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6","[Herpes simplex encephalitis, susceptibility to, 4]",,[614850],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15855,Active,Orphanet+OMIM,OMIM:614852,Subtype of disorder,[Etiological subtype],"Microcephaly 9, primary, autosomal recessive",,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance ({5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[614852],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15856,Active,Orphanet+OMIM,OMIM:614856,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xiii","[Oi, type xiii]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {6:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Martinez-Glez et al. (2012)} described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.",[614856],[216812],[Osteogenesis imperfecta type 3],[8695],,,,, +GARD:15857,Active,Orphanet+OMIM,OMIM:614858,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 14 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614858],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15858,Active,Orphanet+OMIM,OMIM:614859,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 3a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {5:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.",[614859],[912],[Zellweger syndrome],[7917],,,,, +GARD:15859,Active,Orphanet+OMIM,OMIM:614862,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 4a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {2:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.",[614862],[912],[Zellweger syndrome],[7917],,,,, +GARD:1586,Legacy,GARD,,,,,,,,,,,,Craniosynostosis alopecia brain defect,TRUE,FALSE,Active +GARD:15860,Active,Orphanet+OMIM,OMIM:614863,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 4b,,"Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.",[614863],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15861,Active,Orphanet+OMIM,OMIM:614866,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 5a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.",[614866],[912],[Zellweger syndrome],[7917],,,,, +GARD:15862,Active,Orphanet+OMIM,OMIM:614867,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 5b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {6:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.",[614867],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15863,Active,Orphanet+OMIM,OMIM:614869,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ij",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[614869],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15864,Active,Orphanet+OMIM,OMIM:614870,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 6a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see {214100}.",[614870],[912],[Zellweger syndrome],[7917],,,,, +GARD:15865,Active,Orphanet+OMIM,OMIM:614871,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 6b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.",[614871],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15866,Active,Orphanet+OMIM,OMIM:614872,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 7a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.",[614872],[912],[Zellweger syndrome],[7917],,,,, +GARD:15867,Active,Orphanet+OMIM,OMIM:614873,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 7b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.",[614873],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15868,Active,Orphanet+OMIM,OMIM:614874,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 18","[Ciliary dyskinesia, primary, 18, with or without situs inversus]","Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by {1:Horani et al., 2012}).",[614874],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15869,Active,Orphanet+OMIM,OMIM:614876,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 8a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.",[614876],[912],[Zellweger syndrome],[7917],,,,, +GARD:1587,Legacy,GARD,,,,,,,,,,,,Craniosynostosis arthrogryposis cleft palate,TRUE,FALSE,Active +GARD:15870,Active,Orphanet+OMIM,OMIM:614877,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 8b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.",[614877],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15871,Active,Orphanet+OMIM,OMIM:614879,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 9b,"[Refsum disease, adult, 2, peroxisome biogenesis disorder, pex7-related, atypical]","While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; {215100}), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia ({2:Braverman et al., 2002}). In some cases this phenotype was indistinguishable from that of classic Refsum disease ({266500}) and patients carried this diagnosis.\n\nIndividuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.",[614879],[773],[Refsum disease],[5691],,,,, +GARD:15872,Active,Orphanet+OMIM,OMIM:614880,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 15 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614880],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15873,Active,Orphanet+OMIM,OMIM:614882,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 10a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.",[614882],[912],[Zellweger syndrome],[7917],,,,, +GARD:15874,Active,Orphanet+OMIM,OMIM:614883,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 11a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.",[614883],[912],[Zellweger syndrome],[7917],,,,, +GARD:15875,Active,Orphanet+OMIM,OMIM:614885,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 11b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {4:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.",[614885],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15876,Active,Orphanet+OMIM,OMIM:614886,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 12a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.",[614886],[912],[Zellweger syndrome],[7917],,,,, +GARD:15877,Active,Orphanet+OMIM,OMIM:614887,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 13a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.",[614887],[912],[Zellweger syndrome],[7917],,,,, +GARD:15878,Active,Orphanet+OMIM,OMIM:614897,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 16 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614897],[478],[Kallmann syndrome],[10771],,,,, +GARD:15879,Active,Orphanet+OMIM,OMIM:614900,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 11,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {6:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[614900],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:1588,Legacy,GARD,,,,,,,,,,,,Craniosynostosis autosomal dominant,TRUE,FALSE,Active +GARD:15880,Active,Orphanet+OMIM,OMIM:614916,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 4",,,[614916],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15881,Active,Orphanet+OMIM,OMIM:614920,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 14b,,"PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy ({1:Ebberink et al., 2012}), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., {2:Kelley et al., 1986}; {4:Poll-The et al., 1987}). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.\n\n{5:Thoms and Gartner (2012)} classified the disorder described by {1:Ebberink et al. (2012)} in their patient as a mild 'Zellweger syndrome ({214100}) spectrum' (ZSS) disorder. See PBD1B ({601539}) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B ({614879}) for another atypical peroxisome biogenesis disorder.",[614920],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15882,Active,Orphanet+OMIM,OMIM:614926,Subtype of disorder,[Disease subtype],Perrault syndrome 2,,"Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by {2:Pierce et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[614926],[2855],[Perrault syndrome],[2542],,,,, +GARD:15883,Active,Orphanet+OMIM,OMIM:614935,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 19","[Ciliary dyskinesia, primary, 19, with or without situs inversus]","Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by {1:Kott et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[614935],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15884,Active,Orphanet+OMIM,OMIM:614936,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, punctate type ib",,"For a general phenotypic description and a discussion of genetic heterogeneity of the punctate type of palmoplantar keratoderma, see PPKP1A ({148600}).",[614936],[79501],[Punctate palmoplantar keratoderma type 1],[3103],,,,, +GARD:15885,Active,Orphanet+OMIM,OMIM:614941,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive","[Ectodermal dysplasia, hypohidrotic, ectodermal dysplasia, anhidrotic]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011}).",[614941],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:15886,Active,Orphanet+OMIM,OMIM:614959,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 14,"[Epileptic encephalopathy, early infantile, 14]","Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by {1:Barcia et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[614959],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:15887,Active,Orphanet+OMIM,OMIM:614970,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 20,,,[614970],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:15888,Active,Orphanet+OMIM,OMIM:614972,Subtype of disorder,[Disease subtype],"Cholestasis, intrahepatic, of pregnancy 3",,"Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by {5:Pasmant et al., 2012}).\n\nMutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by {7:Ziol et al., 2008}).\n\nFor a discussion of genetic heterogeneity of ICP, see ICP1 ({147480}).",[614972],[69665],[Intrahepatic cholestasis of pregnancy],[9804],,,,, +GARD:15889,Active,Orphanet+OMIM,OMIM:614976,Subtype of disorder,[Malformation syndrome subtype],Carpenter syndrome 2,,"Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by {2:Twigg et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Carpenter syndrome, see {201000}.",[614976],[65759],[Carpenter syndrome],[6003],,,,, +GARD:15890,Active,Orphanet+OMIM,OMIM:614990,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ik",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[614990],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15891,Active,Orphanet+OMIM,OMIM:615005,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 5",,"Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by {2:Heron et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513}).",[615005],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15892,Active,Orphanet+OMIM,OMIM:615006,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 15,"[Epileptic encephalopathy, early infantile, 15]",,[615006],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:15893,Active,Orphanet+OMIM,OMIM:615007,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 4",,"Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[615007],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:15894,Active,Orphanet+OMIM,OMIM:615010,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 6,,,[615010],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15895,Active,Orphanet+OMIM,OMIM:615022,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 7",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615022],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15896,Active,Orphanet+OMIM,OMIM:615023,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 9",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615023],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15897,Active,Orphanet+OMIM,OMIM:615024,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 10",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {7:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({2:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {6:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {9:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {4:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615024],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15898,Active,Orphanet+OMIM,OMIM:615041,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10","[Walker-warburg syndrome or muscle-eye-brain disease, tmem5-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Vuillaumier-Barrot et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615041],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15899,Active,Orphanet+OMIM,OMIM:615058,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1f",,,[615058],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:159,Active,Orphanet,ORPHA:2036,Disorder,[Malformation syndrome],Scalp-ear-nipple syndrome,[Finlay-Marks syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.",[181270],,,,,Scalp ear nipple syndrome,TRUE,FALSE,Active +GARD:1590,Legacy,GARD,,,,,,,,,,,,Craniosynostosis cleft lip palate arthrogryposis,TRUE,FALSE,Active +GARD:15900,Active,Orphanet+OMIM,OMIM:615059,Subtype of disorder,[Disease subtype],Hypotrichosis 11,,,[615059],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15901,Active,Orphanet+OMIM,OMIM:615066,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xiv","[Oi, type xiv]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {2:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}).\n\n{1:Shaheen et al. (2012)} described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.",[615066],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:15902,Active,Orphanet+OMIM,OMIM:615067,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 20","[Ciliary dyskinesia, primary, 20, with or without situs inversus]","CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615067],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15903,Active,Orphanet+OMIM,OMIM:615072,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, c",,,[615072],[93388],[Brachydactyly type A1],[978],,,,, +GARD:15904,Active,Orphanet+OMIM,OMIM:615081,Subtype of disorder,[Disease subtype],Spermatogenic failure 11,,,[615081],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15905,Active,Orphanet+OMIM,OMIM:615085,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 8",,,[615085],[667],[Autosomal recessive malignant osteopetrosis],[15012],,,,, +GARD:15906,Active,Orphanet+OMIM,OMIM:615092,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 7,,,[615092],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15907,Active,Orphanet+OMIM,OMIM:615112,Subtype of disorder,[Malformation syndrome subtype],Urofacial syndrome 2,,"Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by {1:Stuart et al., 2013}).\n\nFor a discussion of genetic heterogeneity of UFS, see UFS1 ({236730}).",[615112],[2704],[Ochoa syndrome],[104],,,,, +GARD:15908,Active,Orphanet+OMIM,OMIM:615120,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 8","[Myasthenic syndrome, congenital, with pre- and postsynaptic defects, myasthenic syndrome, congenital, due to agrin deficiency]","Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by {3:Maselli et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[615120],"[98913, 98914]","[Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes]","[15022, 15023]",,,,, +GARD:15909,Active,Orphanet+OMIM,OMIM:615145,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 9",,"MCOPCB9 is characterized by isolated microphthalmia and coloboma ({1:Aldahmesh et al., 2012}). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis ({2:Chassaing et al., 2016}; {4:Stephen et al., 2018}; {3:Singh et al., 2019}).",[615145],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:1591,Legacy,GARD,,,,,,,,,,,,Craniosynostosis contractures cleft,TRUE,FALSE,Active +GARD:15910,Active,Orphanet+OMIM,OMIM:615157,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 2",,"Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by {2:Ghezzi et al., 2011}). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances ({3:Morino et al., 2014}; {1:Atwal, 2014}; {4:Nogueira et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615157],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15911,Active,Orphanet+OMIM,OMIM:615158,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 3",,,[615158],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15912,Active,Orphanet+OMIM,OMIM:615159,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 4",,,[615159],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15913,Active,Orphanet+OMIM,OMIM:615160,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 5",,,[615160],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15914,Active,Orphanet+OMIM,OMIM:615163,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 17,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[615163],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15915,Active,Orphanet+OMIM,OMIM:615181,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11","[Walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615181],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15916,Active,Orphanet+OMIM,OMIM:615184,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ii",,,[615184],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15917,Active,Orphanet+OMIM,OMIM:615190,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 5",,"Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by {5:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[615190],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15918,Active,Orphanet+OMIM,OMIM:615214,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 7, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to pik3r1 defect]",,[615214],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15919,Active,Orphanet+OMIM,OMIM:615220,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xv","[Oi, type xv]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {8:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Keupp et al. (2013)} and {7:Pyott et al. (2013)} described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.",[615220],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,,,, +GARD:1592,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus,TRUE,FALSE,Active +GARD:15920,Active,Orphanet+OMIM,OMIM:615221,Subtype of disorder,[Malformation syndrome subtype],Bone mineral density quantitative trait locus 16,"[Osteoporosis, early-onset, susceptibility to]",,[615221],[85193],[Idiopathic juvenile osteoporosis],[6760],,,,, +GARD:15921,Active,Orphanet+OMIM,OMIM:615222,Subtype of disorder,[Disease subtype],Smith-mccort dysplasia 2,,"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; {223800}), which is distinguished from SMC by the additional feature of mental retardation (summary by {2:Dupuis et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 ({607326}).",[615222],[178355],[Smith-McCort dysplasia],[10620],,,,, +GARD:15922,Active,Orphanet+OMIM,OMIM:615224,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 2",,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348}).",[615224],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:15923,Active,Orphanet+OMIM,OMIM:615233,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 66,,,[615233],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15924,Active,Orphanet+OMIM,OMIM:615235,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1jj",,,[615235],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15925,Active,Orphanet+OMIM,OMIM:615244,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 8",,,[615244],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15926,Active,Orphanet+OMIM,OMIM:615248,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1kk",,,[615248],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15927,Active,Orphanet+OMIM,OMIM:615249,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12","[Walker-warburg syndrome or muscle-eye-brain disease, pomk-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {3:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615249],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15928,Active,Orphanet+OMIM,OMIM:615266,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 17 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615266],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15929,Active,Orphanet+OMIM,OMIM:615267,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 18 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615267],[478],[Kallmann syndrome],[10771],,,,, +GARD:1593,Legacy,GARD,,,,,,,,,,,,Craniosynostosis exostoses nevus epibulbar dermoid,TRUE,FALSE,Active +GARD:15930,Active,Orphanet+OMIM,OMIM:615268,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[615268],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15931,Active,Orphanet+OMIM,OMIM:615269,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 19 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615269],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15932,Active,Orphanet+OMIM,OMIM:615270,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 20 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615270],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15933,Active,Orphanet+OMIM,OMIM:615271,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 21 with or without anosmia,,"Hypogonadotropic hypogonadism-21 (HH21) is characterized by partial or absent puberty in anosmic patients, in association with small testicular volumes in men and primary amenorrhea in women. Low bone mass has also been reported in some patients ({1:Miraoui et al., 2013}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615271],[478],[Kallmann syndrome],[10771],,,,, +GARD:15934,Active,Orphanet+OMIM,OMIM:615272,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group q",,"Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by {1:Bogliolo et al., 2013}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[615272],[84],[Fanconi anemia],[6425],,,,, +GARD:15935,Active,Orphanet+OMIM,OMIM:615278,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 2,,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by {3:Niihori et al., 2006}). In a phenotypic comparison of BRAF ({164757})-positive and KRAS-positive individuals with CFC, {3:Niihori et al. (2006)} observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutations.",[615278],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15936,Active,Orphanet+OMIM,OMIM:615279,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 3,,"Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures ({3:Schulz et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150}).",[615279],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15937,Active,Orphanet+OMIM,OMIM:615280,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 4,,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by {2:Rauen et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150}).",[615280],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15938,Active,Orphanet+OMIM,OMIM:615287,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13","[Walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {1:Buysse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615287],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15939,Active,Orphanet+OMIM,OMIM:615293,Subtype of disorder,[Disease subtype],"Myofibromatosis, infantile, 2",,"Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by {1:Martignetti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 ({228550}).",[615293],[2591],[Infantile myofibromatosis],[2998],,,,, +GARD:15940,Active,Orphanet+OMIM,OMIM:615294,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 21","[Ciliary dyskinesia, primary, 21, without situs inversus]","Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by {2:Wirschell et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615294],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15941,Active,Orphanet+OMIM,OMIM:615297,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 4,,"Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by {2:Shaheen et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[615297],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15942,Active,Orphanet+OMIM,OMIM:615298,Subtype of disorder,[Malformation syndrome subtype],"Symphalangism, proximal, 1b",,,[615298],[3250],[Proximal symphalangism],[8182],,,,, +GARD:15943,Active,Orphanet+OMIM,OMIM:615300,Subtype of disorder,[Disease subtype],Perrault syndrome 4,,"Perrault syndrome-4 (PRLTS4) is an autosomal recessive disorder primarily characterized by early-onset sensorineural hearing loss in both males and females, and premature ovarian failure (POF) in females. Affected individuals may also develop neurologic involvement, including developmental delay or learning difficulties in childhood or onset of progressive movement abnormalities, such as spasticity, in adulthood. Brain imaging may show progressive leukodystrophy (summary by {3:Pierce et al., 2013}, {2:Kosaki et al., 2018} and {6:van der Knaap et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[615300],[2855],[Perrault syndrome],[2542],,,,, +GARD:15944,Active,Orphanet+OMIM,OMIM:615327,Subtype of disorder,[Disease subtype],Dowling-degos disease 2,,"Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by {1:Li et al., 2013}).\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{2:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {2:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {2:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\nFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.",[615327],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:15945,Active,Orphanet+OMIM,OMIM:615338,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 16,"[Epileptic encephalopathy, early infantile, 16]","Developmental and epileptic encephalopathy-16 (DEE16) is a severe autosomal recessive neurologic disorder characterized by the onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by {1:Duru et al., 2010} and {3:Milh et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615338],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:15946,Active,Orphanet+OMIM,OMIM:615348,Subtype of disorder,[Disease subtype],Nemaline myopathy 8,,"Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by {2:Ravenscroft et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[615348],[171430],[Severe congenital nemaline myopathy],[12821],,,,, +GARD:15947,Active,Orphanet+OMIM,OMIM:615349,Subtype of disorder,[Clinical subtype],"Ehlers-danlos syndrome, spondylodysplastic type, 2","[Ehlers-danlos syndrome, progeroid type, 2, formerly]","The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin ({2:Okajima et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.",[615349],[75496],[B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome],[9991],,,,, +GARD:15948,Active,Orphanet+OMIM,OMIM:615350,Subtype of disorder,[Malformation syndrome subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14","[Walker-warburg syndrome or muscle-eye-brain disease, gmppb-related]",,[615350],[588],[Muscle-eye-brain disease],[156],,,,, +GARD:15949,Active,Orphanet+OMIM,OMIM:615355,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 8,,"Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by {1:Aoki et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[615355],[648],[Noonan syndrome],[10955],,,,, +GARD:1595,Legacy,GARD,,,,,,,,,,,,Craniosynostosis Fontaine type,TRUE,FALSE,Active +GARD:15950,Active,Orphanet+OMIM,OMIM:615360,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 17,,,[615360],[65],[Leber congenital amaurosis],[634],,,,, +GARD:15951,Active,Orphanet+OMIM,OMIM:615361,Subtype of disorder,[Clinical subtype],"Hypocalcemia, autosomal dominant 2",,,[615361],[428],[Autosomal dominant hypocalcemia],[2877],,,,, +GARD:15952,Active,Orphanet+OMIM,OMIM:615373,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 8,,,[615373],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15953,Active,Orphanet+OMIM,OMIM:615374,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 18,,,[615374],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15954,Active,Orphanet+OMIM,OMIM:615377,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 13",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[615377],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15955,Active,Orphanet+OMIM,OMIM:615378,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 14",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[615378],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15956,Active,Orphanet+OMIM,OMIM:615396,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 10,,,[615396],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15957,Active,Orphanet+OMIM,OMIM:615397,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 11",,,[615397],[564],[Meckel syndrome],[3436],,,,, +GARD:15958,Active,Orphanet+OMIM,OMIM:615399,Subtype of disorder,[Disease subtype],Paroxysmal nocturnal hemoglobinuria 2,,,[615399],[447],[Paroxysmal nocturnal hemoglobinuria],[7337],,,,, +GARD:15959,Active,Orphanet+OMIM,OMIM:615402,Subtype of disorder,[Disease subtype],Dyschromatosis universalis hereditaria 3,,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {2:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DUH, see DUH1 ({127500}).",[615402],[241],[Dyschromatosis universalis hereditaria],[1996],,,,, +GARD:15960,Active,Orphanet+OMIM,OMIM:615413,Subtype of disorder,[Disease subtype],Spermatogenic failure 12,,,[615413],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15961,Active,Orphanet+OMIM,OMIM:615418,Subtype of disorder,[Disease subtype],"Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive",,"Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by {3:Echaniz-Laguna et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041}).",[615418],[1369],[Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome],[1142],,,,, +GARD:15962,Active,Orphanet+OMIM,OMIM:615422,Subtype of disorder,[Disease subtype],Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2,[Multisystem proteinopathy 2],,[615422],[52430],[Inclusion body myopathy with Paget disease of bone and frontotemporal dementia],[10899],,,,, +GARD:15963,Active,Orphanet+OMIM,OMIM:615424,Subtype of disorder,[Disease subtype],Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3,[Multisystem proteinopathy 3],,[615424],[52430],[Inclusion body myopathy with Paget disease of bone and frontotemporal dementia],[10899],,,,, +GARD:15964,Active,Orphanet+OMIM,OMIM:615426,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 20,,,[615426],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15965,Active,Orphanet+OMIM,OMIM:615434,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 82 with or without situs inversus,,,[615434],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15966,Active,Orphanet+OMIM,OMIM:615436,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 8",,,[615436],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15967,Active,Orphanet+OMIM,OMIM:615441,Subtype of disorder,[Disease subtype],"Cardiac arrhythmia syndrome, with or without skeletal muscle weakness","[Triaden knockout syndrome, ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness]","Cardiac arrhythmia syndrome with or without skeletal muscle weakness (CARDAR) is characterized by onset of exercise- or emotion-induced cardiac arrhythmias in infancy or early childhood, associated with syncope or cardiac arrest. Electrocardiography shows variable abnormalities, including polymorphic or bidirectional ventricular extrasystoles and/or transient or persistent prolonged QT intervals, as well as inverted T-waves across the precordial leads. Cardiac events are refractory to both beta-blockers and left cardiac sympathetic denervation. Skeletal muscle weakness has been reported in some patients ({7:Roux-Buisson et al., 2012}; {1:Altmann et al., 2015}).\n\n<Subhead> Reviews\n\n{3:Giudicessi and Ackerman (2016)} reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias. They noted that TRDN-null mouse models show remodeling of the calcium release unit molecular architecture, implicating either early or delayed after-depolarization as the mechanism predominantly responsible for the observed ventricular arrhythmias.\n\n{2:Clemens et al. (2019)} established an International Triadin Knockout Syndrome Registry and reviewed 14 previously published patients with TRDN-associated cardiac arrhythmias, as well as 7 additional patients. Affected individuals presented with either cardiac arrest or syncope at an average age of 3 years. The most common trigger was physical exertion, although a large number of events were not associated with a specific trigger. Mild skeletal myopathy or slight proximal muscle weakness was observed in 6 (29%) of the patients. Two patients died after cardiac events. Of the 19 surviving patients, 16 (84%) showed T-wave inversions across precordial leads, extending to V3 or V4, and 10 (53%) had transient QT prolongation greater than 480 ms. In addition, 8 (89%) of 9 patients who underwent exercise stress testing exhibited ventricular ectopy. All 16 patients tested had normal echocardiograms. The 19 surviving patients were treated with beta-blockers, and 13 (68%) also received implantable defibrillators; however, despite treatment, 14 (74%) of the patients experienced recurrent breakthrough cardiac events.",[615441],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15968,Active,Orphanet+OMIM,OMIM:615444,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 22","[Ciliary dyskinesia, primary, 22, with or without situs inversus]","Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by {2:Zariwala et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615444],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15969,Active,Orphanet+OMIM,OMIM:615451,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 23","[Ciliary dyskinesia, primary, 23, with or without situs inversus]","Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by {1:Hjeij et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615451],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15970,Active,Orphanet+OMIM,OMIM:615453,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 6",,"Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by {1:Gaignard et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615453],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15971,Active,Orphanet+OMIM,OMIM:615481,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 24","[Ciliary dyskinesia, primary, 24, without situs inversus]","Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by {1:Kott et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615481],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15972,Active,Orphanet+OMIM,OMIM:615482,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 25","[Ciliary dyskinesia, primary, 25, with or without situs inversus]","Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Tarkar et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615482],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15973,Active,Orphanet+OMIM,OMIM:615483,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 5",,"Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[615483],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:15974,Active,Orphanet+OMIM,OMIM:615500,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 26","[Ciliary dyskinesia, primary, 26, with or without situs inversus]","Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615500],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15975,Active,Orphanet+OMIM,OMIM:615503,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 8 with or without polydactyly,"[Short rib-polydactyly syndrome, type vi]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615503],[93271],"[Short rib-polydactyly syndrome, Verma-Naumoff type]",[4835],,,,, +GARD:15976,Active,Orphanet+OMIM,OMIM:615504,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 27","[Ciliary dyskinesia, primary, 27, without situs inversus]","Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615504],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15977,Active,Orphanet+OMIM,OMIM:615505,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 28","[Ciliary dyskinesia, primary, 28, with or without situs inversus]","Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by {1:Knowles et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615505],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15978,Active,Orphanet+OMIM,OMIM:615506,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 5",,"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant syndrome characterized by telangiectases and arteriovenous malformations (AVMs). Hallmark features are recurrent epistaxis due to telangiectases of the nasal mucosa; telangiectases on the lips, hands, and oral mucosa; solid-organ AVMs, particularly of the lungs, liver, and brain; and a family history of the same. Presentation with 3 of these criteria is considered diagnostic for HHT (summary by {1:Wooderchak-Donahue et al., 2013}).",[615506],[774],[Hereditary hemorrhagic telangiectasia],[6626],,,,, +GARD:15979,Active,Orphanet+OMIM,OMIM:615513,Subtype of disorder,[Disease subtype],"Immunodeficiency 14a, autosomal dominant","[p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, Activated pi3k-delta syndrome]","Autosomal dominant immunodeficiency-14A (IMD14A) is a primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by {4:Lucas et al., 2014}).",[615513],[397596],[Activated PI3K-delta syndrome],[11983],,,,, +GARD:1598,Legacy,GARD,,,,,,,,,,,,Craniosynostosis Maroteaux Fonfria type,TRUE,FALSE,Active +GARD:15980,Active,Orphanet+OMIM,OMIM:615515,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 19,,,[615515],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15981,Active,Orphanet+OMIM,OMIM:615527,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 8","[Candidiasis, familial chronic mucocutaneous, autosomal recessive]","Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by {1:Boisson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580}).",[615527],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15982,Active,Orphanet+OMIM,OMIM:615539,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, musculocontractural type, 2",,"The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by {1:Muller et al., 2013}).\n\nFor a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 ({601776}).",[615539],[2953],[Musculocontractural Ehlers-Danlos syndrome],[8486],,,,, +GARD:15983,Active,Orphanet+OMIM,OMIM:615544,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 6,,,[615544],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15984,Active,Orphanet+OMIM,OMIM:615546,Subtype of disorder,[Malformation syndrome subtype],Van maldergem syndrome 2,,"Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by {1:Cappello et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Van Maldergem syndrome, see {601390}.",[615546],[314679],[Cerebrofacioarticular syndrome],[5456],,,,, +GARD:15985,Active,Orphanet+OMIM,OMIM:615550,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 12,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {1:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DBA, see DBA1 ({105650}).",[615550],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15986,Active,Orphanet+OMIM,OMIM:615557,Subtype of disorder,[Disease subtype],"Melioidosis, susceptibility to",,"Melioidosis is infection caused by the gram-negative, flagellated soil saprophyte Burkholderia pseudomallei, which is endemic in parts of southeast Asia and northern Australia. Sepsis is a common clinical presentation of disease, and lung is the organ most commonly involved. In northern Thailand, where B. pseudomallei is the most common bloodstream isolate, the overall melioidosis mortality rate exceeds 40%, and pneumonia confers more than 2-fold increased risk of death (summary by {1:West et al., 2013}).",[615557],[31202],[Melioidosis],[9546],,,,, +GARD:15987,Active,Orphanet+OMIM,OMIM:615559,Subtype of disorder,[Disease subtype],"Autoimmune lymphoproliferative syndrome, type iii","[Immunodeficiency, common variable, 9, formerly]","Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by {6:Oliveira, 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.",[615559],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:15988,Active,Orphanet+OMIM,OMIM:615565,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 67,,"Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by {1:Nishiguchi et al., 2013}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[615565],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15989,Active,Orphanet+OMIM,OMIM:615573,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 9",,"Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by {1:Ashraf et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[615573],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:1599,Legacy,GARD,,,,,,,,,,,,Craniosynostosis mental retardation clefting syndrome,TRUE,FALSE,Retired +GARD:15990,Active,Orphanet+OMIM,OMIM:615577,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 10","[deficit in anterior pituitary function and variable immunodeficiency, Immunodeficiency, common variable, with central adrenal insufficiency]","Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by {3:Chen et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594}).",[615577],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15991,Active,Orphanet+OMIM,OMIM:615605,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 3,,"Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by {1:Klootwijk et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600}).",[615605],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:15992,Active,Orphanet+OMIM,OMIM:615619,Subtype of disorder,[Disease subtype],"Cholangiocarcinoma, susceptibility to","[Chlc, susceptibility to]","Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology.\n\nCholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts ({603003}), hepatolithiasis, and primary sclerosing cholangitis ({613806}), are likely contributors (summary by {1:Chan-on et al., 2013}). Overall, the majority of patients lack such identifiable risk factors (summary by {2:Jiao et al., 2013}).",[615619],[70567],[Cholangiocarcinoma],[9304],,,,, +GARD:15993,Active,Orphanet+OMIM,OMIM:615630,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 10 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615630],[474],[Jeune syndrome],[3049],,,,, +GARD:15994,Active,Orphanet+OMIM,OMIM:615631,Subtype of disorder,[Disease subtype],"Anemia, congenital dyserythropoietic, type ib","[Cda, type ib]","Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by {2:Ahmed et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A ({224120}).",[615631],[98869],[Congenital dyserythropoietic anemia type I],[2000],,,,, +GARD:15995,Active,Orphanet+OMIM,OMIM:615632,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type if",[Hsn if],"Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by {2:Kornak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1A ({162400}).",[615632],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15996,Active,Orphanet+OMIM,OMIM:615633,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 11 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615633],"[93271, 474]","[Short rib-polydactyly syndrome, Verma-Naumoff type, Jeune syndrome]","[3049, 4835]",,,,, +GARD:15997,Active,Orphanet+OMIM,OMIM:615636,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 21,,"Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by {1:Akizu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[615636],"[397715, 475]","[Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Joubert syndrome]","[6802, 17637]",,,,, +GARD:15998,Active,Orphanet+OMIM,OMIM:615663,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 4,,"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {4:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.",[615663],[2510],[Micro syndrome],[5534],,,,, +GARD:15999,Active,Orphanet+OMIM,OMIM:615665,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 22,,,[615665],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16,Active,Orphanet,ORPHA:1125,Disorder,[Disease],"Ocular motor apraxia, Cogan type","[Oculomotor apraxia, Cogan type]","Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.",[257550],,,,,Oculomotor apraxia Cogan type,TRUE,FALSE,Active +GARD:160,Active,Orphanet,ORPHA:3130,Disorder,[Disease],Satoyoshi syndrome,[Komuragaeri disease],"Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.",[600705],,,,,Satoyoshi syndrome,TRUE,FALSE,Active +GARD:1600,Legacy,GARD,,,,,,,,,,,,Craniosynostosis mental retardation heart defects,TRUE,FALSE,Retired +GARD:16000,Active,Orphanet+OMIM,OMIM:615670,Subtype of disorder,[Disease subtype],Schwannomatosis 2,,"Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by {1:Piotrowski et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 ({162091}).",[615670],[93921],[Schwannomatosis],[4768],,,,, +GARD:16001,Active,Orphanet+OMIM,OMIM:615674,Subtype of disorder,[Disease subtype],Dowling-degos disease 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 ({179850}).",[615674],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:16002,Active,Orphanet+OMIM,OMIM:615696,Subtype of disorder,[Disease subtype],Dowling-degos disease 4,,,[615696],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:16003,Active,Orphanet+OMIM,OMIM:615706,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 3,,"Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by {1:Gordon et al., 2013}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483}).",[615706],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:16004,Active,Orphanet+OMIM,OMIM:615725,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 68,,,[615725],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16005,Active,Orphanet+OMIM,OMIM:615726,Subtype of disorder,[Disease subtype],Pachyonychia congenita 3,,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {4:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{6:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{10:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[615726],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:16006,Active,Orphanet+OMIM,OMIM:615728,Subtype of disorder,[Disease subtype],Pachyonychia congenita 4,,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {9:Sybert, 2010}; {1:Eliason et al., 2012}; {4:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{2:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{7:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {10:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[615728],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:16007,Active,Orphanet+OMIM,OMIM:615731,Subtype of disorder,[Disease subtype],Nemaline myopathy 9,,"Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by {1:Gupta et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[615731],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,,,, +GARD:16008,Active,Orphanet+OMIM,OMIM:615744,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 19,"[Epileptic encephalopathy, early infantile, 19]","Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mild to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; {607208}) (summary by {1:Carvill et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615744],[33069],[Dravet syndrome],[10430],,,,, +GARD:16009,Active,Orphanet+OMIM,OMIM:615752,Subtype of disorder,[Clinical subtype],"Polymicrogyria, bilateral perisylvian, autosomal recessive",[Pmgr],"Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability ({1:Bae et al., 2014}).",[615752],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:1601,Active,Orphanet,ORPHA:1527,Disorder,[Malformation syndrome],"Craniosynostosis, Philadelphia type",,"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.",[185900],,,,,Craniosynostosis Philadelphia type,TRUE,FALSE,Active +GARD:16010,Active,Orphanet+OMIM,OMIM:615770,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 15",,"Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by {1:Oberti et al., 2004}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[615770],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:16011,Active,Orphanet+OMIM,OMIM:615780,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 69,,"Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by {1:El Shamieh et al., 2014}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[615780],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16012,Active,Orphanet+OMIM,OMIM:615785,Subtype of disorder,[Disease subtype],White sponge nevus 2,,,[615785],[171723],[White sponge nevus],[8501],,,,, +GARD:16013,Active,Orphanet+OMIM,OMIM:615807,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 8,,"Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by {2:Shanske et al., 1997}).\n\nFor a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600}).",[615807],[808],[Seckel syndrome],[8562],,,,, +GARD:16014,Active,Orphanet+OMIM,OMIM:615821,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis",,,[615821],[65282],[Carvajal syndrome],[5595],,,,, +GARD:16015,Active,Orphanet+OMIM,OMIM:615824,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 7",,,[615824],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16016,Active,Orphanet+OMIM,OMIM:615830,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 4","[chromosome 19p13 duplication syndrome, Cushing syndrome, adrenal, due to ppnad4]","Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by {2:Cao et al., 2014}; {5:Sato et al., 2014}).",[615830],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:16017,Active,Orphanet+OMIM,OMIM:615833,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 21,"[Epileptic encephalopathy, early infantile, 21]","Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by {1:Alazami et al., 2014} and {2:Alsahli et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615833],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16018,Active,Orphanet+OMIM,OMIM:615838,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 8",,"Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by {1:Dallabona et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615838],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16019,Active,Orphanet+OMIM,OMIM:615841,Subtype of disorder,[Disease subtype],Spermatogenic failure 13,,,[615841],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:1602,Active,Orphanet,ORPHA:1225,Disorder,[Malformation syndrome],Baller-Gerold syndrome,,"Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).",[218600],,,,,Baller-Gerold syndrome,TRUE,FALSE,Active +GARD:16020,Active,Orphanet+OMIM,OMIM:615842,Subtype of disorder,[Disease subtype],Spermatogenic failure 14,,,[615842],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16021,Active,Orphanet+OMIM,OMIM:615846,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 7,,"Aicardi-Goutieres syndrome-7 (AGS7) is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; {147660}) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by {5:Rice et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750}).",[615846],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:16022,Active,Orphanet+OMIM,OMIM:615860,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 19,,,[615860],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16023,Active,Orphanet+OMIM,OMIM:615866,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 9,"[Mental retardation, autosomal dominant 27]","Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails ({1:Tsurusaki et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[615866],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16024,Active,Orphanet+OMIM,OMIM:615871,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 24,"[Epileptic encephalopathy, early infantile, 24]","Developmental and epileptic encephalopathy-24 (DEE24) is a neurologic disorder characterized by onset of refractory seizures in infancy, severely impaired global development, intellectual disability, and behavioral abnormalities. Most patients have onset of variable types of seizures between 4 and 13 months of age, but earlier onset in the first days of life has also been reported. Seizures are often triggered by fever, at least initially; status epilepticus may occur (summary by {3:Nava et al., 2014} and {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615871],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16025,Active,Orphanet+OMIM,OMIM:615872,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 29","[Ciliary dyskinesia, primary, 29, without situs inversus]","Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by {2:Wallmeier et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615872],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16026,Active,Orphanet+OMIM,OMIM:615883,Subtype of disorder,[Disease subtype],"Myopathy, tubular aggregate, 2",,,[615883],[2593],[Tubular aggregate myopathy],[3884],,,,, +GARD:16027,Active,Orphanet+OMIM,OMIM:615885,Subtype of disorder,[Disease subtype],Hypotrichosis 12,,,[615885],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:16028,Active,Orphanet+OMIM,OMIM:615887,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia5",,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({3:Witkop, 1989}).",[615887],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:16029,Active,Orphanet+OMIM,OMIM:615896,Subtype of disorder,[Disease subtype],Hypotrichosis 13,[Hypotrichosis with woolly hair],,[615896],[170],[Woolly hair],[5597],,,,, +GARD:16030,Active,Orphanet+OMIM,OMIM:615909,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 13,,,[615909],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16031,Active,Orphanet+OMIM,OMIM:615916,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1nn",,,[615916],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:16032,Active,Orphanet+OMIM,OMIM:615922,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 70,,,[615922],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16033,Active,Orphanet+OMIM,OMIM:615935,Subtype of disorder,[Morphological anomaly subtype],Pancreatic agenesis 2,"[Pancreatic hypoplasia, congenital 2]",,[615935],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:16034,Active,Orphanet+OMIM,OMIM:615954,Subtype of disorder,[Disease subtype],Acth-independent macronodular adrenal hyperplasia 2,[Primary macronodular adrenal hyperplasia],"ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia ({2:Assie et al., 2013}).",[615954],[189427],[Cushing syndrome due to macronodular adrenal hyperplasia],[10824],,,,, +GARD:16035,Active,Orphanet+OMIM,OMIM:615959,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 5",,"Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by {1:Agrawal et al., 2014}).\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150}).",[615959],[169186],[Autosomal recessive centronuclear myopathy],[12718],,,,, +GARD:16036,Active,Orphanet+OMIM,OMIM:615973,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 20,,,[615973],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16037,Active,Orphanet+OMIM,OMIM:615990,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 13,,"BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa ({1:Leitch et al., 2008}; {2:Xing et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615990],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16038,Active,Orphanet+OMIM,OMIM:615991,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 14,,"BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease ({1:Leitch et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615991],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16039,Active,Orphanet+OMIM,OMIM:615992,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 15,,"BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene ({1:Kim et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615992],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16040,Active,Orphanet+OMIM,OMIM:615993,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 16,,"BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient ({1:Billingsley et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615993],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16041,Active,Orphanet+OMIM,OMIM:615994,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 17,,"Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation ({1:Deffert et al., 2007}; {3:Schaefer et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615994],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16042,Active,Orphanet+OMIM,OMIM:615995,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 18,,"BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability ({1:Scheidecker et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615995],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16043,Active,Orphanet+OMIM,OMIM:615996,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 19,,"Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism ({1:Aldahmesh et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615996],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16044,Active,Orphanet+OMIM,OMIM:616001,Subtype of disorder,[Morphological anomaly subtype],"Breasts and/or nipples, aplasia or hypoplasia of, 2",,"Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) or Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\nFor a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.",[616001],[180188],[Isolated congenital breast hypoplasia/aplasia],[9489],,,,, +GARD:16045,Active,Orphanet+OMIM,OMIM:616002,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 7,"[Glomerulosclerosis, focal segmental, 7]","Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by {1:Barua et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[616002],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16046,Active,Orphanet+OMIM,OMIM:616005,Subtype of disorder,[Disease subtype],Immunodeficiency 36,,"IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma ({2:Elkaim et al., 2016}).",[616005],[397596],[Activated PI3K-delta syndrome],[11983],,,,, +GARD:16047,Active,Orphanet+OMIM,OMIM:616006,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 2,,"Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510}).",[616006],[2136],[Hennekam syndrome],[3318],,,,, +GARD:16048,Active,Orphanet+OMIM,OMIM:616026,Subtype of disorder,[Clinical subtype],Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,[Frts4 with mody],,[616026],[93111],[HNF1B-related autosomal dominant tubulointerstitial kidney disease],[10221],,,,, +GARD:16049,Active,Orphanet+OMIM,OMIM:616028,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 5,,"Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {4:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[616028],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:1605,Active,Orphanet,ORPHA:1528,Disorder,[Malformation syndrome],Craniotelencephalic dysplasia,,"Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.",[218670],,,,,Craniotelencephalic dysplasia,TRUE,FALSE,Active +GARD:16050,Active,Orphanet+OMIM,OMIM:616030,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 22 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism is caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[616030],[478],[Kallmann syndrome],[10771],,,,, +GARD:16051,Active,Orphanet+OMIM,OMIM:616032,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 8,"[Glomerulosclerosis, focal segmental, 8]",,[616032],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16052,Active,Orphanet+OMIM,OMIM:616037,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 30","[Ciliary dyskinesia, primary, 30, with or without situs inversus]",,[616037],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16053,Active,Orphanet+OMIM,OMIM:616040,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant",,"Presynaptic congenital myasthenic syndrome-7A with distal motor neuropathy (CMS7A) is an autosomal dominant neuromuscular disorder characterized by onset of foot deformities, delayed motor development, and slowly progressive distal muscle weakness resulting in gait difficulties in early childhood. Other features may include hyporeflexia, muscle atrophy, and upper limb involvement. Electrophysiologic studies show low compound muscle action potentials (CMAPs), consistent with a distal hereditary motor neuropathy (dHMN), as well as a decremental response to repetitive stimulation, indicating presynaptic defects at the neuromuscular junction (NMJ), consistent with myasthenic syndrome (summary by {3:Fionda et al., 2021}). The complex phenotype of patients with dominant SYT2 mutations likely results from impairment of 2 fundamental functions of SYT2: (1) disturbance of calcium-dependent synchronous presynaptic neurotransmitter release, resulting in a myasthenic disorder, and (2) disruption of exocytosis and endocytosis, causing a degenerative process affecting peripheral motor nerve terminals and resulting in a motor neuropathy ({5:Maselli et al., 2021}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).\n\nFor a discussion of genetic heterogeneity of dHMN, see {182960}.",[616040],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16054,Active,Orphanet+OMIM,OMIM:616051,Subtype of disorder,[Etiological subtype],"Microcephaly 13, primary, autosomal recessive",,,[616051],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16055,Active,Orphanet+OMIM,OMIM:616059,Subtype of disorder,[Disease subtype],Mirror movements 3,,,[616059],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:16056,Active,Orphanet+OMIM,OMIM:616063,Subtype of disorder,[Disease subtype],"Porokeratosis 8, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[616063],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:16057,Active,Orphanet+OMIM,OMIM:616080,Subtype of disorder,[Etiological subtype],"Microcephaly 12, primary, autosomal recessive",,,[616080],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16058,Active,Orphanet+OMIM,OMIM:616081,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1c",[Hypomyelination with spinal muscular atrophy and cerebellar hypoplasia],"Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by {1:Boczonadi et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[616081],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16059,Active,Orphanet+OMIM,OMIM:616106,Subtype of disorder,[Disease subtype],"Psoriasis 15, pustular, susceptibility to",,,[616106],[247353],[Generalized pustular psoriasis],[12819],,,,, +GARD:16060,Active,Orphanet+OMIM,OMIM:616111,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 9",,,[616111],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16061,Active,Orphanet+OMIM,OMIM:616115,Subtype of disorder,[Disease subtype],Familial cold autoinflammatory syndrome 4,,,[616115],[47045],[Familial cold urticaria],[9535],,,,, +GARD:16062,Active,Orphanet+OMIM,OMIM:616138,Subtype of disorder,[Disease subtype],Perrault syndrome 5,,,[616138],[2855],[Perrault syndrome],[2542],,,,, +GARD:16063,Active,Orphanet+OMIM,OMIM:616139,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 27,"[Epileptic encephalopathy, early infantile, 27]","Developmental and epileptic encephalopathy-27 (DEE27) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {2:Platzer et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616139],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16064,Active,Orphanet+OMIM,OMIM:616151,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 4",,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) ({4:Meunier et al., 2014}). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes ({3:Manes et al., 2013}; {1:Brandl et al., 2017}).\n\n{1:Brandl et al. (2017)} examined patients VMD4, caused by mutation in the IMPG1 gene, and VMD5 ({616152}), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).",[616151],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,,,, +GARD:16065,Active,Orphanet+OMIM,OMIM:616152,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 5",,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) ({4:Meunier et al., 2014}).\n\n{2:Brandl et al. (2017)} examined patients with IMPG2- and IMPG1 ({602870})-associated VMD (see VMD4; {616151}) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).",[616152],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,,,, +GARD:16066,Active,Orphanet+OMIM,OMIM:616165,Subtype of disorder,[Disease subtype],Nemaline myopathy 10,,"Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by {3:Yuen et al., 2014}). Patients with a stable and much milder disease course have been described ({2:Schatz et al., 2018}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[616165],"[171436, 171430]","[Severe congenital nemaline myopathy, Typical nemaline myopathy]","[12821, 12822]",,,,, +GARD:16067,Active,Orphanet+OMIM,OMIM:616166,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 9","[Aortic aneurysm, thoracic, with or without aortic dissection]",,[616166],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:16068,Active,Orphanet+OMIM,OMIM:616208,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia,,,[616208],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16069,Active,Orphanet+OMIM,OMIM:616211,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 28,"[Epileptic encephalopathy, early infantile, 28]","Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by {2:Mignot et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616211],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1607,Legacy,GARD,,,,,,,,,,,,Crawfurd syndrome,TRUE,FALSE,Active +GARD:16070,Active,Orphanet+OMIM,OMIM:616220,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 9,"[Glomerulosclerosis, focal segmental, 9]",,[616220],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16071,Active,Orphanet+OMIM,OMIM:616221,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ih",,"Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored ({2:Wang et al., 2014} and {1:Poulter et al., 2014}).",[616221],"[100031, 100032]","[Hypoplastic amelogenesis imperfecta, Hypocalcified amelogenesis imperfecta]","[16931, 645]",,,,, +GARD:16072,Active,Orphanet+OMIM,OMIM:616229,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xvi","[Oi, type xvi]","Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae ({2:Keller et al., 2018}; {3:Lindahl et al., 2018}).",[616229],[216812],[Osteogenesis imperfecta type 3],[8695],,,,, +GARD:16073,Active,Orphanet+OMIM,OMIM:616247,Subtype of disorder,[Disease subtype],Long qt syndrome 14,,"LQT14 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14, LQT15 ({616249}), or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1, CALM2 ({114182}), or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).",[616247],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:16074,Active,Orphanet+OMIM,OMIM:616249,Subtype of disorder,[Disease subtype],Long qt syndrome 15,,"LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14 ({616247}), LQT15, or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1 ({114180}), CALM2, or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).",[616249],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:16075,Active,Orphanet,ORPHA:562528,Disorder,[Malformation syndrome],Congenital limbs-face contractures-hypotonia-developmental delay syndrome,[CLIFAHDD syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.",[616266],,,,,,,, +GARD:16076,Active,Orphanet+OMIM,OMIM:616270,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type if","[Amelogenesis imperfecta, hypoplastic type if]","Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness ({1:Poulter et al. (2014)}).",[616270],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:16077,Active,Orphanet+OMIM,OMIM:616294,Subtype of disorder,[Malformation syndrome subtype],Cole-carpenter syndrome 2,,"Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by {3:Takeyari et al., 2018}).",[616294],[2050],[Cole-Carpenter syndrome],[1425],,,,, +GARD:16078,Active,Orphanet+OMIM,OMIM:616298,Subtype of disorder,[Malformation syndrome subtype],Singleton-merten syndrome 2,,"Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by {1:Jang et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 ({182250}).",[616298],[85191],[Singleton-Merten dysplasia],[122],,,,, +GARD:16079,Active,Orphanet+OMIM,OMIM:616300,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 13 with or without polydactyly,,,[616300],[474],[Jeune syndrome],[3049],,,,, +GARD:1608,Active,Orphanet,ORPHA:52503,Disorder,[Disease],X-linked creatine transporter deficiency,"[Creatine transporter deficiency, SLC6A8 deficiency]","X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.",[300352],,,,,X-linked creatine deficiency,TRUE,FALSE,Active +GARD:16080,Active,Orphanet+OMIM,OMIM:616304,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 17",,,[616304],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16081,Active,Orphanet+OMIM,OMIM:616307,Subtype of disorder,[Disease subtype],Senior-loken syndrome 8,,,[616307],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:16082,Active,Orphanet+OMIM,OMIM:616311,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 33","[Mental retardation, autosomal dominant 33]",,[616311],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16083,Active,Orphanet+OMIM,OMIM:616314,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616314],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16084,Active,Orphanet+OMIM,OMIM:616321,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3a, slow-channel",,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616321],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16085,Active,Orphanet+OMIM,OMIM:616322,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {5:Sine et al., 2003} and {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616322],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16086,Active,Orphanet+OMIM,OMIM:616323,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616323],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16087,Active,Orphanet+OMIM,OMIM:616324,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616324],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16088,Active,Orphanet+OMIM,OMIM:616325,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616325],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16089,Active,Orphanet+OMIM,OMIM:616326,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency","[Myasthenic syndrome, congenital, ie, formerly, cms ie, formerly]","Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616326],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:1609,Active,Orphanet,ORPHA:504,Disorder,[Disease],Creeping myiasis,[Migratory myiasis],"A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.",,,,,,Creeping myiasis,TRUE,FALSE,Active +GARD:16090,Active,Orphanet+OMIM,OMIM:616329,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 13","[Mody, type 13]",,[616329],[552],[MODY],[3697],,,,, +GARD:16091,Active,Orphanet+OMIM,OMIM:616330,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 18","[Myasthenic syndrome, congenital, 18, with intellectual disability and ataxia]","Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by {1:Shen et al., 2014}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616330],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16092,Active,Orphanet+OMIM,OMIM:616339,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 29,"[Epileptic encephalopathy, early infantile, 29]","Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by {2:Simons et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616339],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16093,Active,Orphanet+OMIM,OMIM:616341,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 30,"[Epileptic encephalopathy, early infantile, 30]","Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by {1:Hansen et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616341],"[1935, 1934, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome, Early myoclonic encephalopathy]","[16581, 7887, 9255]",,,,, +GARD:16094,Active,Orphanet+OMIM,OMIM:616346,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 31,"[Epileptic encephalopathy, early infantile, 31]","Developmental and epileptic encephalopathy-31 (DEE31) is a neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional syndromic features, including dysmorphic features or cortical visual impairment (summary by the {3:EuroEPINOMICS-RES Consortium et al., 2014} and {2:Deciphering Developmental Disorders Study, 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616346],"[2382, 442835]","[Non-specific early-onset epileptic encephalopathy, Lennox-Gastaut syndrome]","[15028, 9912]",,,,, +GARD:16095,Active,Orphanet+OMIM,OMIM:616353,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 6",,"Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by {2:Tummala et al., 2015}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[616353],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:16096,Active,Orphanet+OMIM,OMIM:616366,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 32,"[Epileptic encephalopathy, early infantile, 32]","Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by {2:Syrbe et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616366],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16097,Active,Orphanet+OMIM,OMIM:616371,Subtype of disorder,[Disease subtype],"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4",,,[616371],[2032],[Idiopathic pulmonary fibrosis],[8609],,,,, +GARD:16098,Active,Orphanet+OMIM,OMIM:616373,Subtype of disorder,[Disease subtype],"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3",,,[616373],[2032],[Idiopathic pulmonary fibrosis],[8609],,,,, +GARD:16099,Active,Orphanet+OMIM,OMIM:616389,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1g",,,[616389],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:161,Legacy,GARD,,,,,,,,,,,,Saul Wilkes Stevenson syndrome,TRUE,FALSE,Active +GARD:1610,Legacy,GARD,,,,,,,,,,,,Cretinism athyreotic,TRUE,FALSE,Active +GARD:16100,Active,Orphanet+OMIM,OMIM:616390,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 2, photosensitive",,"Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}.",[616390],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16101,Active,Orphanet+OMIM,OMIM:616394,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 71,,,[616394],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16102,Active,Orphanet+OMIM,OMIM:616395,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 3, photosensitive","[Trichothiodystrophy, complementation group a]","Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}.",[616395],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16103,Active,Orphanet+OMIM,OMIM:616398,Subtype of disorder,[Disease subtype],"Dystonia 26, myoclonic",,"Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by {1:Mencacci et al., 2015}).",[616398],[36899],[Myoclonus-dystonia syndrome],[7139],,,,, +GARD:16104,Active,Orphanet+OMIM,OMIM:616399,Subtype of disorder,[Disease subtype],Brugada syndrome 9,,"Brugada syndrome is characterized by ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[616399],[130],[Brugada syndrome],[1030],,,,, +GARD:16105,Active,Orphanet+OMIM,OMIM:616402,Subtype of disorder,[Etiological subtype],"Microcephaly 14, primary, autosomal recessive",,,[616402],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16106,Active,Orphanet+OMIM,OMIM:616409,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 33,"[Epileptic encephalopathy, early infantile, 33]","Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by {1:de Ligt et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616409],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16107,Active,Orphanet+OMIM,OMIM:616413,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 6",,"Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[616413],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:16108,Active,Orphanet+OMIM,OMIM:616421,Subtype of disorder,[Disease subtype],Myoclonic-atonic epilepsy,,"Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of impaired intellectual development following seizure onset (summary by {1:Carvill et al., 2015}).",[616421],[1942],[Myoclonic-astatic epilepsy],[2169],,,,, +GARD:16109,Active,Orphanet+OMIM,OMIM:616425,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 10",,"46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see {163950}) (summary by {5:Mann et al., 1983}).\n\nFor a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 ({400044}).",[616425],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:1611,Active,Orphanet,ORPHA:1545,Disorder,[Malformation syndrome],Crisponi syndrome,,"Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.",,,,,,Cold-induced sweating syndrome,TRUE,FALSE,Active +GARD:16110,Active,Orphanet+OMIM,OMIM:616428,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 10",,,[616428],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:16111,Active,Orphanet+OMIM,OMIM:616435,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group t",,"Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by {1:Hira et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Fanconi anemia, see FANCA ({227650}).",[616435],[84],[Fanconi anemia],[6425],,,,, +GARD:16112,Active,Orphanet+OMIM,OMIM:616436,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 7",,"Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by {1:Dazzo et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}.",[616436],[101046],[Autosomal dominant epilepsy with auditory features],[2257],,,,, +GARD:16113,Active,Orphanet+OMIM,OMIM:616437,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by {5:Rea et al., 2014}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[616437],"[275864, 275872, 803]","[Behavioral variant of frontotemporal dementia, Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[7392, 17273, 5786]",,,,, +GARD:16114,Active,Orphanet+OMIM,OMIM:616445,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 9",,,[616445],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:16115,Active,Orphanet+OMIM,OMIM:616455,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 2,,,[616455],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:16116,Active,Orphanet+OMIM,OMIM:616461,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 8",,,[616461],[101046],[Autosomal dominant epilepsy with auditory features],[2257],,,,, +GARD:16117,Active,Orphanet+OMIM,OMIM:616462,Subtype of disorder,[Malformation syndrome subtype],"Acrofacial dysostosis, cincinnati type",,"The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects ({1:Weaver et al., 2015}).",[616462],[1200],[Burn-McKeown syndrome],[10041],,,,, +GARD:16118,Active,Orphanet+OMIM,OMIM:616468,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 6,,,[616468],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:16119,Active,Orphanet+OMIM,OMIM:616469,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 72,,,[616469],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16120,Active,Orphanet+OMIM,OMIM:616470,Subtype of disorder,[Disease subtype],Ullrich congenital muscular dystrophy 2,,,[616470],[75840],"[Congenital muscular dystrophy, Ullrich type]",[4769],,,,, +GARD:16121,Active,Orphanet+OMIM,OMIM:616471,Subtype of disorder,[Disease subtype],Bethlem myopathy 2,"[Ehlers-danlos syndrome, myopathic type, eds, myopathic type]",,[616471],[610],[Bethlem myopathy],[873],,,,, +GARD:16122,Active,Orphanet+OMIM,OMIM:616481,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 32","[Ciliary dyskinesia, primary, 32, without situs inversus]","Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by {1:Jeanson et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[616481],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16123,Active,Orphanet+OMIM,OMIM:616486,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities","[Microcephaly 15, primary, autosomal recessive]","Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by {3:Harel et al., 2018}).",[616486],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16124,Active,Orphanet+OMIM,OMIM:616490,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 23,,"Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by {1:Bachmann-Gagescu et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616490],[475],[Joubert syndrome],[6802],,,,, +GARD:16125,Active,Orphanet+OMIM,OMIM:616502,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 21,[Retinal dystrophy with early macular involvement],,[616502],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16126,Active,Orphanet+OMIM,OMIM:616507,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xvii",,,[616507],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:16127,Active,Orphanet+OMIM,OMIM:616509,Subtype of disorder,[Clinical subtype],Cataract 44,[Cataract 44 and hypotrichosis],,[616509],[98994],[Total early-onset cataract],[1159],,,,, +GARD:16128,Active,Orphanet+OMIM,OMIM:616511,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 14",,,[616511],[552],[MODY],[3697],,,,, +GARD:16129,Active,Orphanet+OMIM,OMIM:616517,Subtype of disorder,[Disease subtype],Achromatopsia 7,,"Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by {2:Kohl et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 ({216900}).",[616517],[49382],[Achromatopsia],[15015],,,,, +GARD:1613,Active,Orphanet,ORPHA:891,Disorder,[Disease],Familial exudative vitreoretinopathy,"[Criswick-Schepens syndrome, FEVR]","Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.","[305390, 613310, 616468, 605750, 617572, 601813, 133780]",,,,,Familial exudative vitreoretinopathy,TRUE,FALSE,Active +GARD:16130,Active,Orphanet+OMIM,OMIM:616531,Subtype of disorder,[Clinical subtype],"Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities","[Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis]","Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) is a severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Affected individuals may have feeding difficulties with gastroesophageal reflux and poor overall growth, as well as microcephaly and nonspecific dysmorphic facial features. Additional features may include nystagmus, inability to walk, ataxia, abnormal movements, and seizures. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease (summary by {3:Verdura et al., 2021}, {2:Salter et al., 2021}).",[616531],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:16131,Active,Orphanet+OMIM,OMIM:616532,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7","[Herpes simplex encephalitis, susceptibility to, 5]",,[616532],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:16132,Active,Orphanet+OMIM,OMIM:616534,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 4",,"Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by {3:Pereira et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[616534],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:16133,Active,Orphanet+OMIM,OMIM:616535,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 5",,"Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by {1:Gara et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[616535],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:16134,Active,Orphanet+OMIM,OMIM:616538,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9","[Walker-warburg syndrome or muscle-eye brain disease, dag1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by {1:Geis et al., 2013} and {3:Riemersma et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[616538],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:16135,Active,Orphanet+OMIM,OMIM:616544,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 73,,,[616544],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16136,Active,Orphanet+OMIM,OMIM:616553,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 6",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by {2:Kocak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[616553],"[397692, 3322]","[Hoyeraal-Hreidarsson syndrome, Hereditary isolated aplastic anemia]","[17635, 346]",,,,, +GARD:16137,Active,Orphanet+OMIM,OMIM:616559,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 9,,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {1:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[616559],[648],[Noonan syndrome],[10955],,,,, +GARD:16138,Active,Orphanet+OMIM,OMIM:616562,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 74,,,[616562],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16139,Active,Orphanet+OMIM,OMIM:616564,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 10,,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {2:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[616564],[648],[Noonan syndrome],[10955],,,,, +GARD:1614,Active,Orphanet,ORPHA:1380,Disorder,[Malformation syndrome],Cataract-nephropathy-encephalopathy syndrome,[Crome syndrome],"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.",[218900],,,,,Crome syndrome,TRUE,FALSE,Active +GARD:16140,Active,Orphanet+OMIM,OMIM:616570,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 3,,"Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by {1:Drury et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 ({214150}).",[616570],[1466],[COFS syndrome],[6027],,,,, +GARD:16141,Active,Orphanet+OMIM,OMIM:616576,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 12, with autoimmunity",[Nfkb1 deficiency],"Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by {2:Fliegauf et al., 2015}; {3:Lorenzini et al., 2020}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594}).",[616576],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:16142,Active,Orphanet+OMIM,OMIM:616589,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 6,,"Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {2:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[616589],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:16143,Active,Orphanet+OMIM,OMIM:616603,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 3",,"Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes ({1:Fischer-Zirnsak et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 ({123700}).",[616603],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:16144,Active,Orphanet+OMIM,OMIM:616617,Subtype of disorder,[Malformation syndrome subtype],Heimler syndrome 2,[Peroxisome biogenesis disorder 4c],"Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities ({2:Ratbi et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 ({234580}).",[616617],[3220],[Deafness-enamel hypoplasia-nail defects syndrome],[1687],,,,, +GARD:16145,Active,Orphanet+OMIM,OMIM:616629,Subtype of disorder,[Disease subtype],Senior-loken syndrome 9,,"Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by {2:Bizet et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.",[616629],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:16146,Active,Orphanet+OMIM,OMIM:616631,Subtype of disorder,[Disease subtype],"Porokeratosis 9, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {174800}.",[616631],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:16147,Active,Orphanet+OMIM,OMIM:616645,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 34,"[Epileptic encephalopathy, early infantile, 34]","Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by {1:Stodberg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[616645],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:16148,Active,Orphanet+OMIM,OMIM:616648,Subtype of disorder,[Disease subtype],Optic atrophy 8,,"Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[616648],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,,,, +GARD:16149,Active,Orphanet+OMIM,OMIM:616649,Subtype of disorder,[Disease subtype],"Spherocytosis, type 2","[Spherocytosis, hereditary, 2]","Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by {6:Perrotta et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see {182900}.",[616649],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:16150,Active,Orphanet+OMIM,OMIM:616654,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 24,,"Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by {2:Huppke et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616654],[475],[Joubert syndrome],[6802],,,,, +GARD:16151,Active,Orphanet+OMIM,OMIM:616681,Subtype of disorder,[Etiological subtype],"Microcephaly 16, primary, autosomal recessive",,,[616681],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16152,Active,Orphanet+OMIM,OMIM:616689,Subtype of disorder,[Disease subtype],Dehydrated hereditary stomatocytosis 2,"[Xerocytosis gardos, desiccytosis gardos]","In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by {7:Rapetti-Mauss et al., 2015}).\n\nFor discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 ({194380}).",[616689],[3202],[Dehydrated hereditary stomatocytosis],[5623],,,,, +GARD:16153,Active,Orphanet+OMIM,OMIM:616720,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 19",,"Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by {4:Logan et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616720],"[98913, 98914]","[Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes]","[15022, 15023]",,,,, +GARD:16154,Active,Orphanet+OMIM,OMIM:616726,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 33","[Ciliary dyskinesia, primary, 33, without situs inversus]","Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by {2:Olbrich et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[616726],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16155,Active,Orphanet+OMIM,OMIM:616730,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 11",,"Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype ({3:Miyake et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[616730],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16156,Active,Orphanet+OMIM,OMIM:616734,Subtype of disorder,[Disease subtype],"Skin creases, congenital symmetric circumferential, 2",,"Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by {1:Isrie et al., 2015}).\n\nFor a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 ({156610}).",[616734],[2505],[Multiple benign circumferential skin creases on limbs],[3589],,,,, +GARD:16157,Active,Orphanet+OMIM,OMIM:616760,Subtype of disorder,[Disease subtype],"Woolly hair, autosomal recessive 3","[Woolly hair, autosomal recessive 3, with hypotrichosis]",,[616760],[170],[Woolly hair],[5597],,,,, +GARD:16158,Active,Orphanet+OMIM,OMIM:616777,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 9,,,[616777],[808],[Seckel syndrome],[8562],,,,, +GARD:16159,Active,Orphanet+OMIM,OMIM:616781,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 25,,"Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by {1:Srour et al., 2015})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616781],[475],[Joubert syndrome],[6802],,,,, +GARD:1616,Legacy,GARD,,,,,,,,,,,,Crossed polydactyly type 1,TRUE,FALSE,Active +GARD:16160,Active,Orphanet+OMIM,OMIM:616784,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 26,,"Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by {2:Sanders et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616784],[475],[Joubert syndrome],[6802],,,,, +GARD:16161,Active,Orphanet+OMIM,OMIM:616792,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 7",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[616792],[635],[Neuroblastoma],[7185],,,,, +GARD:16162,Active,Orphanet+OMIM,OMIM:616806,Subtype of disorder,[Disease subtype],Wilms tumor 6,,"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000. It is often described as an embryonal tumor, as it arises from embryonal cells in which growth and/or differentiation have become dysregulated during development (summary by {1:Mahamdallie et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[616806],[654],[Nephroblastoma],[7892],,,,, +GARD:16163,Active,Orphanet+OMIM,OMIM:616835,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 6,,,[616835],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:16164,Active,Orphanet+OMIM,OMIM:616849,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, d",,,[616849],[93388],[Brachydactyly type A1],[978],,,,, +GARD:16165,Active,Orphanet+OMIM,OMIM:616882,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 3",,"Advanced sleep phase syndrome is characterized by early sleep time (sleep onset) and early morning awakening (sleep offset) (summary by {1:Zhang et al., 2016}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348}).",[616882],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:16166,Active,Orphanet+OMIM,OMIM:616892,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 12",,"Nephrotic syndrome type 12 is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by {1:Braun et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[616892],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16167,Active,Orphanet+OMIM,OMIM:616893,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 13",,"Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis ({1:Braun et al., 2016}).",[616893],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16168,Active,Orphanet+OMIM,OMIM:616910,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 3,,"Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {3:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[616910],[2268],[ICF syndrome],[2945],,,,, +GARD:16169,Active,Orphanet+OMIM,OMIM:616911,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 4,,"Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {1:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[616911],[2268],[ICF syndrome],[2945],,,,, +GARD:1617,Active,Orphanet,ORPHA:2935,Disorder,[Malformation syndrome],Crossed polysyndactyly,,"A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.",[175690],,,,,Crossed polysyndactyly,TRUE,FALSE,Active +GARD:16170,Active,Orphanet+OMIM,OMIM:616938,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 5,,"Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by {3:Wieczorek et al., 2013}). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[616938],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16171,Active,Orphanet+OMIM,OMIM:616941,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 8a, autosomal dominant","[agammaglobulinemia, autosomal dominant, due to tcf3 defect, Agm8]",,[616941],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:16172,Active,Orphanet+OMIM,OMIM:616943,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 6, nonphotosensitive",,,[616943],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16173,Active,Orphanet+OMIM,OMIM:616950,Subtype of disorder,[Disease subtype],Spermatogenic failure 15,,,[616950],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16174,Active,Orphanet+OMIM,OMIM:617004,Subtype of disorder,[Malformation syndrome subtype],Polycystic liver disease 2 with or without kidney cysts,,"PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by {1:Cnossen and Drenth, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 ({174050}).",[617004],[2924],[Isolated polycystic liver disease],[9457],,,,, +GARD:16175,Active,Orphanet+OMIM,OMIM:617020,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 38,"[epileptic encephalopathy, early infantile, 38, Glycosylphosphatidylinositol biosynthesis defect 23]","Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by {3:Palmer et al., 2016}; {2:Davids et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[617020],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16176,Active,Orphanet+OMIM,OMIM:617023,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 75,,,[617023],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16177,Active,Orphanet+OMIM,OMIM:617024,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1h",,"Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia ({1:Vincent et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[617024],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:16178,Active,Orphanet+OMIM,OMIM:617026,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2f",,"Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by {2:Breuss et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[617026],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:16180,Active,Orphanet+OMIM,OMIM:617050,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 10,,"Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by {1:Ammann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[617050],[183678],[Hermansky-Pudlak syndrome due to AP-3 deficiency],[15026],,,,, +GARD:16181,Active,Orphanet+OMIM,OMIM:617063,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 7,,,[617063],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:16182,Active,Orphanet+OMIM,OMIM:617065,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 40,"[Epileptic encephalopathy, early infantile, 40]","Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by {1:Alfaiz et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617065],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16183,Active,Orphanet+OMIM,OMIM:617069,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3","[Progressive external ophthalmoplegia, autosomal recessive 3]",,[617069],[254886],[Autosomal recessive progressive external ophthalmoplegia],[1191],,,,, +GARD:16184,Active,Orphanet+OMIM,OMIM:617075,Subtype of disorder,[Disease subtype],"Nasopharyngeal carcinoma, susceptibility to, 3",,"Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by {1:Dai et al., 2016})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107}).",[617075],[150],[Nasopharyngeal carcinoma],[7163],,,,, +GARD:16185,Active,Orphanet+OMIM,OMIM:617088,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 15 with polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {7:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nSRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[617088],"[474, 289]","[Jeune syndrome, Ellis Van Creveld syndrome]","[1301, 3049]",,,,, +GARD:16186,Active,Orphanet+OMIM,OMIM:617090,Subtype of disorder,[Etiological subtype],"Microcephaly 17, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by {3:Harding et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[617090],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16187,Active,Orphanet+OMIM,OMIM:617091,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 34","[Ciliary dyskinesia, primary, 34, without situs inversus]","Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by {1:El Khouri et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[617091],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16188,Active,Orphanet+OMIM,OMIM:617092,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 35","[Ciliary dyskinesia, primary, 35, with or without situs inversus]","Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by {1:Wallmeier et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[617092],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16189,Active,Orphanet+OMIM,OMIM:617102,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 16 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[617102],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:16190,Active,Orphanet+OMIM,OMIM:617105,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 41,"[Epileptic encephalopathy, early infantile, 41]","Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the {2:EPI4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617105],"[1935, 442835]","[Non-specific early-onset epileptic encephalopathy, Early myoclonic encephalopathy]","[15028, 16581]",,,,, +GARD:16191,Active,Orphanet+OMIM,OMIM:617106,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 42,"[Epileptic encephalopathy, early infantile, 42]","Developmental and epileptic encephalopathy-42 (DEE42) is a neurologic disorder characterized by the onset of various types of seizures in the first hours or days of life, although rare patients may have onset in the first weeks of life. The seizures tend to be refractory and associated with EEG abnormalities, including multifocal spikes and generalized spike-wave complexes. Affected infants show global developmental delay with severely impaired intellectual development. Other features may include axial hypotonia, peripheral hypertonia with hyperreflexia, tremor, ataxia, and abnormal eye movements (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617106],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16192,Active,Orphanet+OMIM,OMIM:617113,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 43,"[Epileptic encephalopathy, early infantile, 43]","Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617113],[2382],[Lennox-Gastaut syndrome],[9912],,,,, +GARD:16193,Active,Orphanet+OMIM,OMIM:617119,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 22,"[Bardet-biedl syndrome 20, formerly]","Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability ({2:Lindstrand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[617119],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16194,Active,Orphanet+OMIM,OMIM:617120,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 27,,,[617120],[475],[Joubert syndrome],[6802],,,,, +GARD:16195,Active,Orphanet+OMIM,OMIM:617121,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 28,,,[617121],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:16196,Active,Orphanet+OMIM,OMIM:617123,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 76,,,[617123],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16197,Active,Orphanet+OMIM,OMIM:617127,Subtype of disorder,[Malformation syndrome subtype],Orofaciodigital syndrome xv,"[oral-facial-digital syndrome, type xv, Ofds xv]",,[617127],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16198,Active,Orphanet+OMIM,OMIM:617132,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 44,"[Epileptic encephalopathy, early infantile, 44]","Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood (summary by {2:Muona et al., 2016}; {1:Colin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617132],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16199,Active,Orphanet+OMIM,OMIM:617137,Subtype of disorder,[Disease subtype],Frontometaphyseal dysplasia 2,,"Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by {4:Wade et al., 2016}).\n\nFor a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 ({305620}).",[617137],[1826],[Frontometaphyseal dysplasia],[826],,,,, +GARD:162,Active,Orphanet,ORPHA:2013,Disorder,[Malformation syndrome],Cleft palate-large ears-small head syndrome,[Say-Barber-Hobbs syndrome],"Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.",[181180],,,,,Say syndrome,TRUE,FALSE,Active +GARD:1620,Active,Orphanet,ORPHA:1302,Disorder,[Disease],Cryptogenic organizing pneumonia,"[BOOP, Bronchiolitis obliterans organizing pneumonia, COP]","Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.",,,,,,Cryptogenic organizing pneumonia,TRUE,FALSE,Active +GARD:16200,Active,Orphanet+OMIM,OMIM:617141,Subtype of disorder,[Morphological anomaly subtype],Aniridia 2,,,[617141],[250923],[Isolated aniridia],[5816],,,,, +GARD:16201,Active,Orphanet+OMIM,OMIM:617142,Subtype of disorder,[Morphological anomaly subtype],Aniridia 3,,,[617142],[250923],[Isolated aniridia],[5816],,,,, +GARD:16202,Active,Orphanet+OMIM,OMIM:617143,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 20, presynaptic",,"Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by {1:Bauche et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[617143],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16203,Active,Orphanet+OMIM,OMIM:617153,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 45,"[Epileptic encephalopathy, early infantile, 45]","Developmental and epileptic encephalopathy-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by {1:Burgess et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617153],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16204,Active,Orphanet+OMIM,OMIM:617158,Subtype of disorder,[Disease subtype],"Myopathy, distal, with rimmed vacuoles",[Multisystem proteinopathy 4],"Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by {2:Bucelli et al., 2015}).",[617158],[602],[GNE myopathy],[9493],,,,, +GARD:16205,Active,Orphanet+OMIM,OMIM:617162,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 46,"[Epileptic encephalopathy, early infantile, 46]","Developmental and epileptic encephalopathy-46 (DEE46) is a neurologic disorder characterized by the onset of intractable seizures in the first months or years of life. Affected individuals show global developmental delay with failure to thrive, hypotonia, and hyperreflexia with variably impaired intellectual development. More severely affected individuals have almost no developmental progress and are unable to sit or speak, whereas others may achieve some milestones (summary by {2:Tsuchida et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617162],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16206,Active,Orphanet+OMIM,OMIM:617166,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 47,"[Epileptic encephalopathy, early infantile, 47]","Developmental and epileptic encephalopathy-47 (DEE47) is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by {2:Guella et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617166],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16207,Active,Orphanet+OMIM,OMIM:617168,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 10","[Aortic aneurysm, thoracic, with or without aortic dissection]",,[617168],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:16208,Active,Orphanet+OMIM,OMIM:617169,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal recessive 74","[Sotos syndrome 3, formerly]","MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported ({1:Almuriekhi et al., 2015}; {2:Mastrangelo et al., 2020}).",[617169],[821],[Sotos syndrome],[10091],,,,, +GARD:16209,Active,Orphanet+OMIM,OMIM:617174,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, periodontal type, 2",,,[617174],[75392],[Periodontal Ehlers-Danlos syndrome],[12474],,,,, +GARD:16210,Active,Orphanet+OMIM,OMIM:617201,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 7,,"Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by {1:Broix et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.",[617201],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16211,Active,Orphanet+OMIM,OMIM:617217,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia6",,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({2:Witkop, 1989}).",[617217],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:16212,Active,Orphanet+OMIM,OMIM:617239,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 21, presynaptic",,,[617239],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16213,Active,Orphanet+OMIM,OMIM:617243,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group v",,,[617243],[84],[Fanconi anemia],[6425],,,,, +GARD:16214,Active,Orphanet+OMIM,OMIM:617244,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group r",,,[617244],[84],[Fanconi anemia],[6425],,,,, +GARD:16215,Active,Orphanet+OMIM,OMIM:617247,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group u",,,[617247],[84],[Fanconi anemia],[6425],,,,, +GARD:16216,Active,Orphanet+OMIM,OMIM:617251,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 2,,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {2:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480}).",[617251],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:16217,Active,Orphanet+OMIM,OMIM:617252,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 3,,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {1:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480}).",[617252],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:16218,Active,Orphanet+OMIM,OMIM:617276,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 48,"[Epileptic encephalopathy, early infantile, 48]","Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by {2:Assoum et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617276],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16219,Active,Orphanet+OMIM,OMIM:617280,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 18",,,[617280],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:16220,Active,Orphanet+OMIM,OMIM:617297,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ij",,"Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({2:Witkop, 1988}).",[617297],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:16221,Active,Orphanet+OMIM,OMIM:617304,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 77,,,[617304],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16222,Active,Orphanet+OMIM,OMIM:617336,Subtype of disorder,[Disease subtype],"Nemaline myopathy 11, autosomal recessive",,"NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by {1:Miyatake et al., 2017}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[617336],[171439],[Childhood-onset nemaline myopathy],[7171],,,,, +GARD:16223,Active,Orphanet+OMIM,OMIM:617350,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 52,"[Epileptic encephalopathy, early infantile, 52]","Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by {4:Patino et al., 2009} and {5:Ramadan et al., 2017}). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome ({607208}), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by {4:Patino et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617350],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16224,Active,Orphanet+OMIM,OMIM:617389,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 53,"[Epileptic encephalopathy, early infantile, 53]","Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by {1:Hardies et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617389],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16225,Active,Orphanet+OMIM,OMIM:617391,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 54,"[Epileptic encephalopathy, early infantile, 54]","Developmental and epileptic encephalopathy-54 (DEE54) is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by {2:de Kovel et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617391],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16226,Active,Orphanet+OMIM,OMIM:617406,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 21,,"BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[617406],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16227,Active,Orphanet+OMIM,OMIM:617408,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 16,,,[617408],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16228,Active,Orphanet+OMIM,OMIM:617409,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 17,,,[617409],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16229,Active,Orphanet+OMIM,OMIM:617433,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 78,,,[617433],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1623,Legacy,GARD,,,,,,,,,,,,Cryptorchidism arachnodactyly mental retardation,TRUE,FALSE,Retired +GARD:16230,Active,Orphanet+OMIM,OMIM:617443,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 21",,"BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by {1:Saultier et al., 2017}).",[617443],[851],[Paris-Trousseau thrombocytopenia],[4224],,,,, +GARD:16231,Active,Orphanet+OMIM,OMIM:617460,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 79,,,[617460],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16232,Active,Orphanet+OMIM,OMIM:617493,Subtype of disorder,[Clinical syndrome subtype],Neurodevelopmental disorder with involuntary movements,,"NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by {1:Ananth et al., 2016} and {2:Danti et al., 2017}).",[617493],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16233,Active,Orphanet+OMIM,OMIM:617520,Subtype of disorder,[Etiological subtype],"Microcephaly 18, primary, autosomal dominant",,,[617520],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16234,Active,Orphanet+OMIM,OMIM:617542,Subtype of disorder,[Disease subtype],"Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development",[Developmental split-brain syndrome],,[617542],[2744],[Horizontal gaze palsy with progressive scoliosis],[12682],,,,, +GARD:16235,Active,Orphanet+OMIM,OMIM:617561,Subtype of disorder,[Malformation syndrome subtype],Cohen-gibson syndrome,,"Cohen-Gibson syndrome (COGIS) is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by {3:Cooney et al., 2017}).",[617561],[3447],[Weaver syndrome],[7878],,,,, +GARD:16236,Active,Orphanet+OMIM,OMIM:617562,Subtype of disorder,[Malformation syndrome subtype],Meckel syndrome 13,,,[617562],[564],[Meckel syndrome],[3436],,,,, +GARD:16237,Active,Orphanet+OMIM,OMIM:617565,Subtype of disorder,[Disease subtype],Perrault syndrome 6,,"Perrault syndrome-6 (PRTLS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by {1:Chatzispyrou et al., 2017}).",[617565],[2855],[Perrault syndrome],[2542],,,,, +GARD:16238,Active,Orphanet+OMIM,OMIM:617572,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 7,,,[617572],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:16239,Active,Orphanet+OMIM,OMIM:617577,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 37","[Ciliary dyskinesia, primary, 37, with or without situs inversus]",,[617577],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16240,Active,Orphanet+OMIM,OMIM:617598,Subtype of disorder,[Malformation syndrome subtype],Mosaic variegated aneuploidy syndrome 3,,"MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by {1:Yost et al., 2017}).\n\nFor a discussion of genetic heterogeneity of MVA, see MVA1 ({257300}).",[617598],[1052],[Mosaic variegated aneuploidy syndrome],[3007],,,,, +GARD:16241,Active,Orphanet+OMIM,OMIM:617599,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 55,"[glycosylphosphatidylinositol biosynthesis defect 14, Epileptic encephalopathy, early infantile, 55]","Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by {3:Vetro et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[617599],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16242,Active,Orphanet+OMIM,OMIM:617610,Subtype of disorder,[Disease subtype],Polycystic kidney disease 5,,"PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by {1:Lu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900}).",[617610],[731],[Autosomal recessive polycystic kidney disease],[8378],,,,, +GARD:16243,Active,Orphanet+OMIM,OMIM:617622,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 30,,,[617622],[475],[Joubert syndrome],[6802],,,,, +GARD:16244,Active,Orphanet+OMIM,OMIM:617681,Subtype of disorder,[Malformation syndrome subtype],Blepharocheilodontic syndrome 2,,,[617681],[1997],[Blepharo-cheilo-odontic syndrome],[2071],,,,, +GARD:16245,Active,Orphanet+OMIM,OMIM:617706,Subtype of disorder,[Disease subtype],Spermatogenic failure 22,,,[617706],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16246,Active,Orphanet+OMIM,OMIM:617707,Subtype of disorder,[Disease subtype],Spermatogenic failure 23,,,[617707],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16247,Active,Orphanet+OMIM,OMIM:617729,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 3,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {2:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617729],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16248,Active,Orphanet+OMIM,OMIM:617730,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 4,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617730],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16249,Active,Orphanet+OMIM,OMIM:617731,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 5,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617731],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16250,Active,Orphanet+OMIM,OMIM:617760,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 6, with fiber-type disproportion",,"CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150}).",[617760],[2020],[Congenital fiber-type disproportion myopathy],[6161],,,,, +GARD:16251,Active,Orphanet+OMIM,OMIM:617761,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 31,,,[617761],[475],[Joubert syndrome],[6802],,,,, +GARD:16252,Active,Orphanet+OMIM,OMIM:617781,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 80,,,[617781],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16253,Active,Orphanet+OMIM,OMIM:617800,Subtype of disorder,[Etiological subtype],"Microcephaly 19, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity ({1:DiStasio et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[617800],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16254,Active,Orphanet+OMIM,OMIM:617808,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 6,,"Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients ({2:Shang et al., 2015}; {3:Van Paemel et al., 2017}; {1:Bramswig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[617808],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16255,Active,Orphanet+OMIM,OMIM:617809,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 3,,,[617809],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:16256,Active,Orphanet+OMIM,OMIM:617821,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, arthrochalasia type, 2","[eds viib, Ehlers-danlos syndrome, type viib, autosomal dominant]","Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement ({1:Byers et al., 1997}; {4:Giunta et al., 2008}).\n\nFor a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.",[617821],[1899],[Arthrochalasia Ehlers-Danlos syndrome],[2084],,,,, +GARD:16257,Active,Orphanet+OMIM,OMIM:617825,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 5,,"Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation ({1:Prasad et al., 2014}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[617825],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:16258,Active,Orphanet+OMIM,OMIM:617829,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 92,"[Epileptic encephalopathy, infantile or early childhood, 2]","Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by {1:Hamdan et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617829],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16259,Active,Orphanet+OMIM,OMIM:617830,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 58,"[Epileptic encephalopathy, early infantile, 58]","Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by {1:Hamdan et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617830],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1626,Active,Orphanet,ORPHA:1552,Disorder,[Malformation syndrome],Currarino syndrome,[Currarino triad],"Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).",[176450],,,,,Currarino triad,TRUE,FALSE,Active +GARD:16260,Active,Orphanet+OMIM,OMIM:617831,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 55, with seizures","[Mental retardation, autosomal dominant 55, with seizures]",,[617831],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16261,Active,Orphanet+OMIM,OMIM:617836,Subtype of disorder,[Disease subtype],Developmental delay and seizures with or without movement abnormalities,,"DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).",[617836],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16262,Active,Orphanet+OMIM,OMIM:617839,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 23,,,[617839],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16263,Active,Orphanet+OMIM,OMIM:609265,Subtype of disorder,[Disease subtype],Li-fraumeni syndrome 2,,,[609265],[524],[Li-Fraumeni syndrome],[6902],,,,, +GARD:16264,Active,Orphanet+OMIM,OMIM:617883,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group s",,"Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by {2:Freire et al., 2018}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[617883],[84],[Fanconi anemia],[6425],,,,, +GARD:16265,Active,Orphanet+OMIM,OMIM:617892,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis, susceptibility to, 24",,"Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons ({1:Brenner et al., 2016}).",[617892],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16266,Active,Orphanet+OMIM,OMIM:617899,Subtype of disorder,[Disease subtype],"Leukodystrophy, hypomyelinating, 14",,"Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by {1:Hamilton et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[617899],[139441],[Hypomyelination with atrophy of basal ganglia and cerebellum],[10917],,,,, +GARD:16267,Active,Orphanet+OMIM,OMIM:617900,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8","[Herpes simplex encephalitis, susceptibility to, 6]",,[617900],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:16268,Active,Orphanet+OMIM,OMIM:617914,Subtype of disorder,[Etiological subtype],"Microcephaly 20, primary, autosomal recessive",,,[617914],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16269,Active,Orphanet+OMIM,OMIM:617924,Subtype of disorder,[Disease subtype],"Epilepsy, juvenile myoclonic, susceptibility to, 10",,"Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by {1:Bailey et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[617924],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:16270,Active,Orphanet+OMIM,OMIM:617929,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 60,"[Epileptic encephalopathy, early infantile, 60]","Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by {1:Mutoh et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617929],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16271,Active,Orphanet+OMIM,OMIM:617938,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 62,"[Epileptic encephalopathy, early infantile, 62]","Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities (summary by {1:Zaman et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617938],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16272,Active,Orphanet+OMIM,OMIM:617941,Subtype of disorder,[Disease subtype],Shwachman-diamond syndrome 2,,"Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({2:Stepensky et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 ({260400}).",[617941],[811],[Shwachman-Diamond syndrome],[4863],,,,, +GARD:16273,Active,Orphanet+OMIM,OMIM:617948,Subtype of disorder,[Disease subtype],Elliptocytosis 3,,"Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by {12:Qualtieri et al., 1997}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 ({611804}).",[617948],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:16274,Active,Orphanet+OMIM,OMIM:617960,Subtype of disorder,[Disease subtype],Spermatogenic failure 25,,"Spermatogenic failure-25 is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage ({2:Okutman et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617960],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16275,Active,Orphanet+OMIM,OMIM:617970,Subtype of disorder,[Disease subtype],"Rh-null, amorph type",,"The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type ({268150}) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene ({180297}). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD ({111680}) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by {2:Huang et al., 1998}, {3:Huang et al., 2000}).\n\nClinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion ({8:Silvy et al., 2015}).",[617970],[71275],[Rh deficiency syndrome],[12916],,,,, +GARD:16276,Active,Orphanet+OMIM,OMIM:617971,Subtype of disorder,[Disease subtype],"Methemoglobinemia, beta type",,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit ({141800}), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993}).",[617971],[330041],[Hemoglobin M disease],[13007],,,,, +GARD:16277,Active,Orphanet+OMIM,OMIM:617973,Subtype of disorder,[Disease subtype],"Methemoglobinemia, alpha type",,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain ({141900}) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993}).",[617973],[330041],[Hemoglobin M disease],[13007],,,,, +GARD:16278,Active,Orphanet+OMIM,OMIM:617983,Subtype of disorder,[Etiological subtype],"Microcephaly 21, primary, autosomal recessive",,,[617983],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16279,Active,Orphanet+OMIM,OMIM:617984,Subtype of disorder,[Etiological subtype],"Microcephaly 22, primary, autosomal recessive",,,[617984],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16280,Active,Orphanet+OMIM,OMIM:617985,Subtype of disorder,[Etiological subtype],"Microcephaly 23, primary, autosomal recessive",,,[617985],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16281,Active,Orphanet+OMIM,OMIM:617993,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 2",,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({3:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({4:Frishberg et al., 2005}), {5:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({3:Chefetz et al., 2005}; {6:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.",[617993],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:16282,Active,Orphanet+OMIM,OMIM:617994,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 3",,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({1:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({2:Frishberg et al., 2005}), {3:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({1:Chefetz et al., 2005}; {5:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.",[617994],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:16283,Active,Orphanet+OMIM,OMIM:618008,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 65,"[Epileptic encephalopathy, early infantile, 65]","Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by {1:Nakashima et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618008],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16284,Active,Orphanet+OMIM,OMIM:618011,Subtype of disorder,[Disease subtype],Hyperekplexia 4,,"Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 ({149400}).",[618011],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:16285,Active,Orphanet+OMIM,OMIM:618012,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 93,,"Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by {1:Fassio et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[618012],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16286,Active,Orphanet+OMIM,OMIM:618021,Subtype of disorder,[Malformation syndrome subtype],Tetraamelia syndrome 2,[Tetraamelia syndrome 2 with pulmonary agenesis],"Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia ({3:Szenker-Ravi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of TETAMS, see {273395}.",[618021],[3301],[Tetraamelia-multiple malformations syndrome],[386],,,,, +GARD:16287,Active,Orphanet+OMIM,OMIM:618027,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 7,,"Coffin-Siris syndrome-7 (CSS7) is a neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by {1:Vasileiou et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618027],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16288,Active,Orphanet+OMIM,OMIM:618063,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 38","[Ciliary dyskinesia, primary, 38, with or without situs inversus]","Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by {1:Fassad et al., 2018} and {2:Hoben et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618063],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16289,Active,Orphanet+OMIM,OMIM:618065,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1d",,"Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by {2:Burns et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[618065],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:1629,Active,Orphanet,ORPHA:423717,Disorder,[Disease],Cutaneous larva migrans,,"Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.",,,,,,Cutaneous larva migrans,TRUE,FALSE,Active +GARD:16290,Active,Orphanet+OMIM,OMIM:618086,Subtype of disorder,[Disease subtype],Spermatogenic failure 28,,"Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue ({1:Kasak et al., 2018}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618086],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16291,Active,Orphanet+OMIM,OMIM:618110,Subtype of disorder,[Disease subtype],Spermatogenic failure 30,,"Spermatogenic failure-30 is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas ({1:Arafat et al., 2017}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}.",[618110],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16292,Active,Orphanet+OMIM,OMIM:618115,Subtype of disorder,[Disease subtype],Spermatogenic failure 32,,"Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern ({1:Choi et al., 2010}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see {258150}.",[618115],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16293,Active,Orphanet+OMIM,OMIM:618123,Subtype of disorder,[Malformation syndrome subtype],"Polydactyly, postaxial, type a8",,"Postaxial polydactyly type A8 is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails ({1:Palencia-Campos et al., 2017}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618123],[289],[Ellis Van Creveld syndrome],[1301],,,,, +GARD:16294,Active,Orphanet+OMIM,OMIM:618135,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8","[muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related, Muscular dystrophy, limb-girdle, autosomal recessive 24]","MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase, and muscle biopsy often shows dystrophic features (summary by {1:Endo et al., 2015}). The disorder is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 ({609308}).",[618135],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:16295,Active,Orphanet+OMIM,OMIM:618141,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 67,"[Epileptic encephalopathy, early infantile, 67]","Developmental and epileptic encephalopathy-67 (DEE67) is characterized by the onset of various types of seizures in the first months of life, although later onset may occur in milder cases. The seizures tend to be resistant to treatment. Affected individuals have global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior (summary by {2:Chatron et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618141],[2382],[Lennox-Gastaut syndrome],[9912],,,,, +GARD:16296,Active,Orphanet+OMIM,OMIM:618154,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 3,,"Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity ({1:Brouillard et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510}).",[618154],[2136],[Hennekam syndrome],[3318],,,,, +GARD:16297,Active,Orphanet+OMIM,OMIM:618161,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 35,,"Joubert syndrome-35 is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement ({1:Alkanderi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[618161],[475],[Joubert syndrome],[6802],,,,, +GARD:16298,Active,Orphanet+OMIM,OMIM:618173,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 83,,"Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients ({1:Holtan et al., 2019}).",[618173],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16299,Active,Orphanet+OMIM,OMIM:618176,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 17",,"NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[618176],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:163,Legacy,GARD,,,,,,,,,,,,Schizophrenia mental retardation deafness retinitis,TRUE,FALSE,Retired +GARD:16300,Active,Orphanet+OMIM,OMIM:618177,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 18",,"NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[618177],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16301,Active,Orphanet+OMIM,OMIM:618178,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 19",,"NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by {1:Braun et al., 2018}).",[618178],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16302,Active,Orphanet+OMIM,OMIM:618179,Subtype of disorder,"[Etiological subtype, Disease subtype]","Microcephaly 24, primary, autosomal recessive",,,[618179],"[2512, 656]","[Genetic steroid-resistant nephrotic syndrome, Autosomal recessive primary microcephaly]","[12117, 3946]",,,,, +GARD:16303,Active,Orphanet+OMIM,OMIM:618185,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 8,,"Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported ({1:Ge et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 ({300049}).",[618185],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16304,Active,Orphanet+OMIM,OMIM:618188,Subtype of disorder,[Disease subtype],"Hyperparathyroidism, transient neonatal",,"Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age ({1:Suzuki et al., 2018}).",[618188],[417],[Neonatal severe primary hyperparathyroidism],[2838],,,,, +GARD:16305,Active,Orphanet+OMIM,OMIM:618189,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2c",,"CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life ({1:Iuso et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see {115200}.",[618189],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:16306,Active,Orphanet+OMIM,OMIM:618195,Subtype of disorder,[Disease subtype],Intellectual developmental disorder and retinitis pigmentosa,,"Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients ({1:Tatour et al., 2017}).",[618195],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16307,Active,Orphanet+OMIM,OMIM:618196,Subtype of disorder,[Morphological anomaly subtype],Capillary malformation-arteriovenous malformation 2,,"Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients ({1:Amyere et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMAVM, see {608354}.",[618196],[1053],[Vein of Galen aneurysmal malformation],[5467],,,,, +GARD:16308,Active,Orphanet+OMIM,OMIM:618197,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 23, presynaptic",,,[618197],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16309,Active,Orphanet+OMIM,OMIM:618198,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 24, presynaptic",,,[618198],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:1631,Legacy,GARD,,,,,,,,,,,,"Cushing syndrome, familial",TRUE,FALSE,Retired +GARD:16310,Active,Orphanet+OMIM,OMIM:618201,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 68,"[Epileptic encephalopathy, early infantile, 68]","Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by {2:Barel et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618201],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16311,Active,Orphanet+OMIM,OMIM:618220,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 84,,"RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception ({1:Ajmal et al., 2014}; {2:Latif et al., 2018}).",[618220],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16312,Active,Orphanet+OMIM,OMIM:618222,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 2",,,[618222],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16313,Active,Orphanet+OMIM,OMIM:618224,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 3",,,[618224],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16314,Active,Orphanet+OMIM,OMIM:618225,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 4",,,[618225],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16315,Active,Orphanet+OMIM,OMIM:618226,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 5",,,[618226],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16316,Active,Orphanet+OMIM,OMIM:618228,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 6",,,[618228],"[70474, 255241, 2609]","[Leigh syndrome with cardiomyopathy, Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908, 16685]",,,,, +GARD:16317,Active,Orphanet+OMIM,OMIM:618229,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 7",,,[618229],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16318,Active,Orphanet+OMIM,OMIM:618230,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 8",,,[618230],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16319,Active,Orphanet+OMIM,OMIM:618232,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 9",,,[618232],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16320,Active,Orphanet+OMIM,OMIM:618233,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 10",,,[618233],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16321,Active,Orphanet+OMIM,OMIM:618234,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 11",,,[618234],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16322,Active,Orphanet+OMIM,OMIM:618236,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 14",,,[618236],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16323,Active,Orphanet+OMIM,OMIM:618237,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 15",,,[618237],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16324,Active,Orphanet+OMIM,OMIM:618238,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 16",,,[618238],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16325,Active,Orphanet+OMIM,OMIM:618240,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 18",,,[618240],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16326,Active,Orphanet+OMIM,OMIM:618241,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 19",,,[618241],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16327,Active,Orphanet+OMIM,OMIM:618242,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 21",,,[618242],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16328,Active,Orphanet+OMIM,OMIM:618245,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 24",,,[618245],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16329,Active,Orphanet+OMIM,OMIM:618246,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 25",,,[618246],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:1633,Active,Orphanet,ORPHA:2881,Disorder,[Disease],Cutaneous photosensitivity-lethal colitis syndrome,,A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.,[219095],,,,,"Cutaneous photosensitivity and colitis, lethal",TRUE,FALSE,Active +GARD:16330,Active,Orphanet+OMIM,OMIM:618250,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 29",,,[618250],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16331,Active,Orphanet+OMIM,OMIM:618251,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 31",,,[618251],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16332,Active,Orphanet+OMIM,OMIM:618253,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 33",,,[618253],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16333,Active,Orphanet+OMIM,OMIM:618264,Subtype of disorder,[Disease subtype],Mirror movements 4,,"Congenital mirror movements-4 is an autosomal dominant condition characterized by involuntary movements on either side of the body that accompany and mirror intentional movements on the opposite side. Mirror movements usually involve the upper limb and hands, resulting in difficulty performing pure unimanual movements. The pathophysiology is probably related to developmental abnormalities of fiber decussation in the corticospinal tract (summary by {1:Meneret et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600}).",[618264],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:16334,Active,Orphanet+OMIM,OMIM:618267,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, susceptibility to, 3",,"Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs ({1:de Jong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400}).",[618267],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:16335,Active,Orphanet+OMIM,OMIM:618275,Subtype of disorder,[Disease subtype],Hypotrichosis 14,,"Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair ({2:Romano et al., 2018}).\n\nFor a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 ({605389}).",[618275],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:16336,Active,Orphanet+OMIM,OMIM:618298,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 70,"[Epileptic encephalopathy, early infantile, 70]","Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by {2:Hamada et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[618298],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16337,Active,Orphanet+OMIM,OMIM:618309,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, susceptibility to, 5",,"Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by {1:Horev et al., 2015}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400}).",[618309],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:16338,Active,Orphanet+OMIM,OMIM:618310,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 18,,,[618310],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16339,Active,Orphanet+OMIM,OMIM:618312,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 19,,,[618312],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16340,Active,Orphanet+OMIM,OMIM:618313,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 20,,,[618313],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16341,Active,Orphanet+OMIM,OMIM:618323,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 25, presynaptic",,"Congenital myasthenic syndrome-25 is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by {4:Shen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[618323],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16342,Active,Orphanet+OMIM,OMIM:618345,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 85,,,[618345],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16343,Active,Orphanet+OMIM,OMIM:618347,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 6,,"Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by {1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618347],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16344,Active,Orphanet+OMIM,OMIM:618348,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 7,,"Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by {4:Rosti et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618348],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16345,Active,Orphanet+OMIM,OMIM:618349,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 8,,"Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by {1:Fujita et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618349],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16346,Active,Orphanet+OMIM,OMIM:618351,Subtype of disorder,[Etiological subtype],"Microcephaly 25, primary, autosomal recessive",,,[618351],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16347,Active,Orphanet+OMIM,OMIM:618362,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 8,,"Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose ({1:Machol et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618362],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16348,Active,Orphanet+OMIM,OMIM:618395,Subtype of disorder,[Disease subtype],"Spondyloepimetaphyseal dysplasia with joint laxity, type 3",,"Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones ({2:Girisha et al., 2016}).\n\nFor a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 ({271640}).",[618395],[93359],[Spondyloepimetaphyseal dysplasia with joint laxity],[4982],,,,, +GARD:16349,Active,Orphanet+OMIM,OMIM:618396,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 74,"[Epileptic encephalopathy, early infantile, 74]","Developmental and epileptic encephalopathy-74 (DEE74) is neurologic disorder characterized by the onset of refractory seizures in the first months of life. Seizure types are variable and include infantile spasms, myoclonic, tonic, atonic, and absence, often with secondary generalization. Affected individuals have severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language (summary by {1:Shen et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618396],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1635,Legacy,GARD,,,,,,,,,,,,Cutis gyratum acanthosis nigricans craniosynostosis,TRUE,FALSE,Active +GARD:16350,Active,Orphanet+OMIM,OMIM:618415,Subtype of disorder,[Clinical subtype],Cataract 48,,"Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment ({1:Ansar et al., 2018}).",[618415],[98994],[Total early-onset cataract],[1159],,,,, +GARD:16351,Active,Orphanet+OMIM,OMIM:618435,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 2b2",,"Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by {1:Daly et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see {108120}.",[618435],"[1146, 1147]","[Sheldon-Hall syndrome, Distal arthrogryposis type 1]","[16556, 787]",,,,, +GARD:16352,Active,Orphanet+OMIM,OMIM:618437,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 75,"[Epileptic encephalopathy, early infantile, 75]","Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by {6:Yin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618437],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16353,Active,Orphanet+OMIM,OMIM:618449,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 41",,"Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis ({1:Bustamante-Marin et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618449],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16354,Active,Orphanet+OMIM,OMIM:618464,Subtype of disorder,[Disease subtype],Paragangliomas 6,,"Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by {1:Buffet et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000}).",[618464],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:16355,Active,Orphanet+OMIM,OMIM:618468,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 76,"[developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination, Epileptic encephalopathy, early infantile, 76]","Developmental and epileptic encephalopathy-76 (DEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by {1:Bell et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618468],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16356,Active,Orphanet+OMIM,OMIM:618475,Subtype of disorder,[Disease subtype],Paragangliomas 7,,"Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by {1:Remacha et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000}).",[618475],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:16357,Active,Orphanet+OMIM,OMIM:618499,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 11,,"Noonan syndrome-11 (NS11) is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy ({1:Higgins et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[618499],[648],[Noonan syndrome],[10955],,,,, +GARD:16358,Active,Orphanet+OMIM,OMIM:618506,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 10,,"Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present ({1:Zawerton et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618506],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16359,Active,Orphanet+OMIM,OMIM:618513,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 19,,"Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography ({2:Yi et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[618513],[65],[Leber congenital amaurosis],[634],,,,, +GARD:16360,Active,Orphanet+OMIM,OMIM:618534,Subtype of disorder,[Disease subtype],Immunodeficiency 64,,"Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by {4:Salzer et al., 2016}, {1:Mao et al., 2018}, and {5:Winter et al., 2018}).",[618534],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:16361,Active,Orphanet+OMIM,OMIM:618535,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 15, hypohidrotic/hair type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia ({1:van den Bogaard et al., 2019}).",[618535],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:16362,Active,Orphanet+OMIM,OMIM:618546,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 7, nonphotosensitive",,"Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis ({1:Theil et al., 2019}).\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.",[618546],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16363,Active,Orphanet+OMIM,OMIM:618548,Subtype of disorder,[Clinical syndrome subtype],Multiple congenital anomalies-hypotonia-seizures syndrome 4,"[developmental and epileptic encephalopathy 77, Glycosylphosphatidylinositol biosynthesis defect 19, epileptic encephalopathy, early infantile, 77]","Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by {4:Starr et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[618548],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16364,Active,Orphanet+OMIM,OMIM:618555,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type1i",,"Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration ({1:Stunkel et al., 2018}).",[618555],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16365,Active,Orphanet+OMIM,OMIM:618557,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 78,"[Epileptic encephalopathy, early infantile, 78]","Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by {1:Butler et al., 2018}). One family with an attenuated disease course has been reported ({2:Maljevic et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618557],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16366,Active,Orphanet+OMIM,OMIM:618559,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 79,"[Epileptic encephalopathy, early infantile, 79]","Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by {1:Butler et al., 2018} and {2:Hernandez et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618559],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16367,Active,Orphanet+OMIM,OMIM:618587,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 60, with seizures","[Mental retardation, autosomal dominant 60, with seizures]","Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by {1:Helbig et al., 2019}).",[618587],[1942],[Myoclonic-astatic epilepsy],[2169],,,,, +GARD:16368,Active,Orphanet+OMIM,OMIM:618613,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 86,,"Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation ({1:de Bruijn et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[618613],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16369,Active,Orphanet+OMIM,OMIM:618624,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 12,,"Noonan syndrome-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed ({1:Capri et al., 2019}; {2:Niihori et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[618624],[648],[Noonan syndrome],[10955],,,,, +GARD:1637,Legacy,GARD,,,,,,,,,,,,Cutis laxa osteoporosis,TRUE,FALSE,Active +GARD:16370,Active,Orphanet+OMIM,OMIM:618632,Subtype of disorder,[Clinical subtype],"Usher syndrome, type 1m",,"Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa ({1:Ahmed et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 ({276900}).",[618632],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:16371,Active,Orphanet+OMIM,OMIM:618658,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 3,,"Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia ({1:Bauer et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 ({135500}).",[618658],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:16372,Active,Orphanet+OMIM,OMIM:618666,Subtype of disorder,[Disease subtype],Sitosterolemia 2,,"Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {1:Berge et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see {210250}.",[618666],[2882],[Sitosterolemia],[7653],,,,, +GARD:16373,Active,Orphanet+OMIM,OMIM:618695,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 42","[Ciliary dyskinesia, primary, 42, without situs inversus]","Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by {1:Boon et al., 2014}).\n\nFor a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 ({244400}).",[618695],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16374,Active,Orphanet+OMIM,OMIM:618697,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 87 with choroidal involvement,,"Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected ({2:Hull et al., 2016}; {4:Li et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[618697],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16375,Active,Orphanet+OMIM,OMIM:618752,Subtype of disorder,[Disease subtype],"Neutropenia, severe congenital, 8, autosomal dominant","[Neutropenia, severe congenital, 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities, shwachman-diamond syndrome-like]","Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; {138970}) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, {260400}), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by {2:Carapito et al., 2017} and {1:Bellanne-Chantelot et al., 2018}).\n\nFor discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700}).",[618752],[486],[Autosomal dominant severe congenital neutropenia],[9558],,,,, +GARD:16376,Active,Orphanet+OMIM,OMIM:618763,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 36,,"Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; {277170}) (summary by {1:Shaheen et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[618763],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16377,Active,Orphanet+OMIM,OMIM:618775,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 10",,,[618775],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16378,Active,Orphanet+OMIM,OMIM:618776,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 34",,,[618776],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16379,Active,Orphanet+OMIM,OMIM:618779,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 11,,"Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by {1:Nixon et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618779],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:1638,Active,Orphanet,ORPHA:357058,Disorder,[Disease],Autosomal recessive cutis laxa type 2A,[ARCL2A],"A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.","[219200, 278250]",,,,,"Cutis laxa, autosomal recessive type 2A",TRUE,FALSE,Active +GARD:16380,Active,Orphanet+OMIM,OMIM:618781,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 44","[Ciliary dyskinesia, primary, 44, without situs inversus]","Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by {1:Chivukula et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618781],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16381,Active,Orphanet+OMIM,OMIM:618786,Subtype of disorder,[Malformation syndrome subtype],Imagawa-matsumoto syndrome,,"Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported ({1:Cyrus et al., 2019}).",[618786],[3447],[Weaver syndrome],[7878],,,,, +GARD:16382,Active,Orphanet+OMIM,OMIM:618795,Subtype of disorder,[Disease subtype],Juvenile arthritis,,"Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family ({2:Karacan et al., 2018}).",[618795],[85414],[Systemic-onset juvenile idiopathic arthritis],[10966],,,,, +GARD:16383,Active,Orphanet+OMIM,OMIM:618801,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 45","[Ciliary dyskinesia, primary, 45, without situs inversus]","Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by {1:Thomas et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618801],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16384,Active,Orphanet+OMIM,OMIM:618824,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 8, autosomal recessive",,"Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by {2:Schottlaender et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[618824],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:16385,Active,Orphanet+OMIM,OMIM:618826,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 88,,"Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium ({4:Zobor et al., 2018}; {3:Hu et al., 2019}; {1:Albarry et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[618826],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16386,Active,Orphanet+OMIM,OMIM:618840,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 4,[Alopecia-mental retardation syndrome 4],"Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees ({1:Besnard et al., 2019}).\n\nFor a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 ({203650}).",[618840],[2850],[Alopecia-intellectual disability syndrome],[612],,,,, +GARD:16387,Active,Orphanet+OMIM,OMIM:618841,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 25 with anosmia,,"Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed ({1:Messina et al., 2020}).\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[618841],[478],[Kallmann syndrome],[10771],,,,, +GARD:16388,Active,Orphanet+OMIM,OMIM:618856,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 2",,"Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy ({4:Gloyn et al., 2004}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND ({10:Shimomura et al., 2007}).\n\n{9:Proks et al. (2006)} stated that heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618856],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:16389,Active,Orphanet+OMIM,OMIM:618857,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 3",,"Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by {1:Babenko et al., 2006}). Some patients also have neurologic features, including developmental delay and epilepsy ({3:Proks et al., 2006}; {1:Babenko et al., 2006}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618857],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:1639,Active,Orphanet,ORPHA:90348,Disorder,[Disease],Autosomal dominant cutis laxa,[ADCL],"A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.","[616603, 123700, 614434]",,,,,"Cutis laxa, autosomal dominant",TRUE,FALSE,Active +GARD:16390,Active,Orphanet+OMIM,OMIM:618858,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 4",,"Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by {4:Polak et al., 2008}).\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618858],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:16391,Active,Orphanet+OMIM,OMIM:618910,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 86,"[Epileptic encephalopathy, early infantile, 86]",,[618910],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16392,Active,Orphanet+OMIM,OMIM:618913,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 5,"[Fanconi renotubular syndrome, acadian variant]","Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent ({1:Crocker et al., 1997} and {2:Hartmannova et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600}).",[618913],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:16393,Active,Orphanet+OMIM,OMIM:618916,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 87,"[Epileptic encephalopathy, early infantile, 87]","Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by {1:Chung et al., 2020}).",[618916],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16394,Active,Orphanet+OMIM,OMIM:618918,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 9,,"Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by {1:Heinzen et al., 2018}, {3:Walters et al., 2018}).\n\nFor a discussion of genetic heterogeneity of periventricular nodular heterotopia, see {300049}.",[618918],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16395,Active,Orphanet+OMIM,OMIM:618935,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 5","[Granulomatous disease, chronic, due to cybc1 deficiency]","Autosomal recessive chronic granulomatous disease-5 (CGD5) is a primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Hematopoietic bone marrow transplant is curative. The disorder results from impaired oxidative burst via the NAPDH oxidative complex in macrophages and neutrophils (summary by {1:Arnadottir et al., 2018} and {3:Thomas et al., 2019}).\n\nFor a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400}).",[618935],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:16396,Active,Orphanet+OMIM,OMIM:618939,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 4,,"Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed ({1:Sanchez et al., 2020}).",[618939],[861],[Treacher-Collins syndrome],[9124],,,,, +GARD:16397,Active,Orphanet+OMIM,OMIM:618940,Subtype of disorder,[Disease subtype],Oculopharyngodistal myopathy 2,,"Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by {1:Deng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OPDM, see OPDM1 ({164310}).",[618940],[98897],[Oculopharyngodistal myopathy],[12592],,,,, +GARD:16398,Active,Orphanet+OMIM,OMIM:618959,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 88,"[Epileptic encephalopathy, early infantile, 88]","Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons ({1:Broeks et al., 2019}).\n\nFor a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[618959],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16399,Active,Orphanet+OMIM,OMIM:618977,Subtype of disorder,[Disease subtype],Optic atrophy 12,,"Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by {2:Caporali et al., 2020}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[618977],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:164,Legacy,GARD,,,,,,,,,,,,"Sclerocornea, Syndactyly, ambiguous genitalia",TRUE,FALSE,Retired +GARD:16400,Active,Orphanet+OMIM,OMIM:618998,Subtype of disorder,[Disease subtype],Immune dysregulation and systemic hyperinflammation syndrome,"[Hemophagocytic lymphohistiocytosis, familial, 6, formerly]","Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) is an autosomal recessive immunologic disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. The phenotype is reminiscent of relapsing hemophagocytic lymphohistiocytosis (HLH; see FHL1, {267700}) (summary by {1:Tavernier et al., 2019}).",[618998],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,,,, +GARD:16401,Active,Orphanet+OMIM,OMIM:619003,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 35",,,[619003],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16402,Active,Orphanet+OMIM,OMIM:619016,Subtype of disorder,[Disease subtype],Ifap syndrome 2,"[Ichthyosis follicularis, atrichia, and photophobia syndrome 2]","Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 ({308205}).",[619016],[2273],[Ichthyosis follicularis-alopecia-photophobia syndrome],[2952],,,,, +GARD:16403,Active,Orphanet+OMIM,OMIM:619028,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 9",,"Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by {1:Malicdan et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).",[619028],[139485],[Autosomal recessive ataxia due to ubiquinone deficiency],[10294],,,,, +GARD:16404,Active,Orphanet+OMIM,OMIM:619046,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 3",,"Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by {3:Valnot et al., 2000} and {1:Antonicka et al., 2003}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619046],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16405,Active,Orphanet+OMIM,OMIM:619048,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 4",,"Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by {2:Valnot et al., 2000} and {1:Stiburek et al., 2009}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619048],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16406,Active,Orphanet+OMIM,OMIM:619051,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 7",,"Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Massa et al., 2008} and {1:Abdulhag et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619051],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16407,Active,Orphanet+OMIM,OMIM:619052,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 8",,"Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Seeger et al., 2010}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619052],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16408,Active,Orphanet+OMIM,OMIM:619053,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 10",,"Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Weraarpachai et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619053],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16409,Active,Orphanet+OMIM,OMIM:619054,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 11",,"Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by a childhood-onset sensory neuronopathy and additional features which may include hypotonia, cerebellar ataxia, tremor, dystonia, choreoathetosis, and/or dysarthria. Patients may have variable motor delay, speech delay, or impaired intellectual development (summary by {2:Doss et al., 2014}; {3:Otero et al., 2019}; {5:Xu et al., 2019}; {1:Dong et al., 2021}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619054],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:1641,Active,Orphanet,ORPHA:357064,Disorder,[Disease],Autosomal recessive cutis laxa type 2B,"[ARCL2, progeroid type, ARCL2B, Autosomal recessive cutis laxa type 2, progeroid type]","A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.",[612940],,,,,"Cutis laxa, autosomal recessive type 2B",TRUE,FALSE,Active +GARD:16410,Active,Orphanet+OMIM,OMIM:619055,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 12",,"Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see {256000}), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Lim et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619055],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16411,Active,Orphanet+OMIM,OMIM:619058,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 14",,"Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Ostergaard et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619058],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16412,Active,Orphanet+OMIM,OMIM:619059,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 15",,"Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see {256000}) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Hallmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619059],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16413,Active,Orphanet+OMIM,OMIM:619060,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 16",,"Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Pillai et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619060],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16414,Active,Orphanet+OMIM,OMIM:619061,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 17",,"Mitochondrial complex IV deficiency nuclear type 17 (MC4DN17) is an autosomal recessive neurometabolic disorder with somewhat variable clinical manifestations and severity. Most affected individuals present in early childhood with motor and gait difficulties after normal early development. These motor abnormalities progress to spastic tetraparesis, sometimes resulting in loss of ambulation. Many patients also show episodic developmental regression: some have impaired cognition and dysarthria, although others have normal speech and cognition. More variable features include seizures and sensorimotor polyneuropathy. The clinical features tend to stabilize over time. Brain imaging shows a cavitating leukodystrophy, and laboratory studies show variably decreased levels and activity of mitochondrial respiratory complex IV in patient tissues ({1:Melchionda et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619061],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16415,Active,Orphanet+OMIM,OMIM:619062,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 18",,"Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Inoue et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619062],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16416,Active,Orphanet+OMIM,OMIM:619063,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 19",,"Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV ({1:Renkema et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619063],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16417,Active,Orphanet+OMIM,OMIM:619064,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 20",,"Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Baertling et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619064],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16418,Active,Orphanet+OMIM,OMIM:619065,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 21",,"Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Pitceathly et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619065],[70472],"[Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type]",[8370],,,,, +GARD:16419,Active,Orphanet+OMIM,OMIM:619087,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 13,,"Noonan syndrome-13 (NS13) is a neurodevelopmental disorder characterized by developmental delay and impaired intellectual development of variable severity, associated with behavioral problems. Affected individuals also exhibit reduced postnatal growth and craniofacial anomalies, including ptosis, hypertelorism, low-set posteriorly rotated ears, and short webbed neck. Other features include congenital heart defects and mild skeletal defects ({1:Motta et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[619087],[648],[Noonan syndrome],[10955],,,,, +GARD:16420,Active,Orphanet+OMIM,OMIM:619108,Subtype of disorder,[Disease subtype],Spermatogenic failure 48,,"Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported ({2:Wyrwoll et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}.",[619108],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16421,Active,Orphanet+OMIM,OMIM:619110,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 1c",,"Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed ({1:Chong et al., 2020}).",[619110],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:16422,Active,Orphanet+OMIM,OMIM:619111,Subtype of disorder,[Disease subtype],Coach syndrome 2,,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({3:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}.",[619111],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:16423,Active,Orphanet+OMIM,OMIM:619113,Subtype of disorder,[Disease subtype],Coach syndrome 3,,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({2:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}.",[619113],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:16424,Active,Orphanet+OMIM,OMIM:619124,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 89,,"Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by {2:Chatron et al., 2020}).",[619124],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16425,Active,Orphanet+OMIM,OMIM:619133,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,,"Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 ({605078})-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by {2:Mackenzie et al., 2017}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[619133],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:16426,Active,Orphanet+OMIM,OMIM:619135,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 3,,"Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria ({1:Kato et al., 2020}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210}).",[619135],[7],[3C syndrome],[5666],,,,, +GARD:16427,Active,Orphanet+OMIM,OMIM:619141,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 5,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-5 (FTDALS5) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD symptoms in adulthood. The disease is progressive, and some patients may develop both diseases, although ALS seems to be more prevalent than FTD. The disorder usually results in premature death (summary by {1:Williams et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[619141],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:16428,Active,Orphanet+OMIM,OMIM:619155,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 22",,"Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant ({1:Majmundar et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[619155],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16429,Active,Orphanet+OMIM,OMIM:619166,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 2",,"Mitochondrial complex II deficiency nuclear type 2 (MC2DN2) is an autosomal recessive multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development. Features include loss of motor skills, spastic paresis, dystonia, and loss of speech associated with increased serum and CSF lactate. Some patients may have mental decline or visual loss. Skeletal muscle samples show isolated complex II deficiency, and proton MRS shows increased succinate levels in the CSF and brain white matter. Brain imaging usually shows progressive leukoencephalopathy. Although the pattern of brain involvement may not be characteristic of Leigh syndrome (see {256000}), postmortem examination in 1 patient showed multifocal spongiform encephalomyelopathy consistent with a diagnosis of Leigh syndrome. The most severely affected patients die of multiorgan failure and lactic acidosis, whereas others who survive may stabilize and regain some skills. Treatment with riboflavin may offer clinical improvement (summary by {1:Brockmann et al., 2002} and {2:Bugiani et al., 2006}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011}).",[619166],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:1643,Active,Orphanet,ORPHA:671,Group of disorders,[Clinical group],Primary cutis verticis gyrata,,"A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.",,,,,,Cutis verticis gyrata,TRUE,FALSE,Active +GARD:16430,Active,Orphanet+OMIM,OMIM:619167,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 3",,"Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by {2:Jackson et al., 2014} and {1:Alston et al., 2015}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011}).",[619167],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:16431,Active,Orphanet+OMIM,OMIM:619170,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 36",,"Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood ({1:Alahmad et al., 2020}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see {252010}.",[619170],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16432,Active,Orphanet+OMIM,OMIM:619179,Subtype of disorder,[Etiological subtype],"Microcephaly 26, primary, autosomal dominant",,"Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by {1:Cristofoli et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[619179],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16433,Active,Orphanet+OMIM,OMIM:619180,Subtype of disorder,[Etiological subtype],"Microcephaly 27, primary, autosomal dominant",,"Autosomal dominant primary microcephaly-27 (MCPH27) is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging ({1:Parry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[619180],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16434,Active,Orphanet+OMIM,OMIM:619185,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 37,,"Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by {2:Latour et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[619185],[475],[Joubert syndrome],[6802],,,,, +GARD:16435,Active,Orphanet+OMIM,OMIM:619201,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 23",,"Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by {2:Solanki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[619201],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16436,Active,Orphanet+OMIM,OMIM:619202,Subtype of disorder,[Disease subtype],Spermatogenic failure 52,,"Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage ({1:Fan et al., 2021}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[619202],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16437,Active,Orphanet+OMIM,OMIM:619208,Subtype of disorder,[Disease subtype],Olmsted syndrome 2,"[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2]","Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair ({2:Duchatelet et al., 2019}). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus as well as alopecia universalis have been observed ({1:Dai et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594}).",[619208],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:16438,Active,Orphanet+OMIM,OMIM:619224,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 4",,Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.,[619224],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:16439,Active,Orphanet+OMIM,OMIM:619267,Subtype of disorder,[Disease subtype],Glanzmann thrombasthenia 2,"[Bleeding disorder, platelet-type, 23]","Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb ({607759})/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene ({7:Rosenberg et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see {273800}.",[619267],[849],[Glanzmann thrombasthenia],[2478],,,,, +GARD:1644,Legacy,GARD,,,,,,,,,,,,Cutis verticis gyrata mental deficiency,TRUE,FALSE,Active +GARD:16440,Active,Orphanet+OMIM,OMIM:619272,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 37",,,[619272],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16441,Active,Orphanet+OMIM,OMIM:619303,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1e",,"Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by {3:Braunisch et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619303],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16442,Active,Orphanet+OMIM,OMIM:619304,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1f",,"Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by {1:Somashekar et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619304],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16443,Active,Orphanet+OMIM,OMIM:619325,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 12,,"Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS ({1:Barish et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[619325],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16444,Active,Orphanet+OMIM,OMIM:619339,Subtype of disorder,[Malformation syndrome subtype],Bartsocas-papas syndrome 2,"[Popliteal pterygium syndrome, bartsocas-papas type 2]","Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by {1:Leslie et al., 2015}).",[619339],[1234],[Bartsocas-Papas syndrome],[4436],,,,, +GARD:16445,Active,Orphanet+OMIM,OMIM:619340,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 96,,"Developmental and epileptic encephalopathy-96 (DEE96) is characterized by onset of seizures in the first days or weeks of life. Affected infants have tonic or myoclonic seizures associated with burst-suppression pattern on EEG. They also have hypotonia with respiratory insufficiency that may result in premature death. Those that survive have profound developmental delay and persistent seizures (summary by {2:Suzuki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[619340],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16446,Active,Orphanet+OMIM,OMIM:619350,Subtype of disorder,[Disease subtype],Visceral myopathy 2,,"Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth ({1:Dong et al., 2019}; {2:Gilbert et al. (2020)}).",[619350],[2604],[Familial visceral myopathy],[3443],,,,, +GARD:16447,Active,Orphanet+OMIM,OMIM:619351,Subtype of disorder,[Malformation syndrome subtype],Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by {4:Wang et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MMIHS, see {249210}.",[619351],[2241],[Megacystis-microcolon-intestinal hypoperistalsis syndrome],[3442],,,,, +GARD:16448,Active,Orphanet+OMIM,OMIM:619355,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 22",,"Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome ({1:Wintjes et al., 2021}).",[619355],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16449,Active,Orphanet+OMIM,OMIM:613093,Subtype of disorder,[Disease subtype],Cone dystrophy 4,,"Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by {2:Thiadens et al., 2009}).",[613093],[1871],[Progressive cone dystrophy],[11897],,,,, +GARD:16450,Active,Orphanet+OMIM,OMIM:158350,Subtype of disorder,[Disease subtype],Cowden syndrome 1,"[ruvalcaba-myhre-smith syndrome, macrocephaly, multiple lipomas, and hemangiomata, bannayan-riley-ruvalcaba syndrome, multiple hamartoma syndrome, riley-smith syndrome, pten hamartoma tumor syndrome with granular cell tumor, macrocephaly, pseudopapilledema, and multiple hemangiomata, Cs, bannayan-zonana syndrome, pten hamartoma tumor syndrome]","Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by {59:Marsh et al., 1999}, {48:Lachlan et al., 2007}, and {9:Blumenthal and Dennis, 2008}).\n\nApproximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations ({9:Blumenthal and Dennis, 2008}).\n\nSome patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by {11:Browning et al., 2015}).",[158350],[201],[Cowden syndrome],[6202],,,,, +GARD:16451,Active,Orphanet+OMIM,OMIM:251450,Subtype of disorder,[Malformation syndrome subtype],Desbuquois dysplasia 1,"[micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification, Desbuquois syndrome]","Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {15:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({9:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({13:Furuichi et al., 2011}). In addition, {16:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({13:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 ({615777}) is caused by mutation in the XYLT1 gene ({608124}) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; {615816}), due to mutation in the PGM3 gene ({172100}), were reported to have skeletal features reminiscent of DBQD.",[251450],[1425],[Desbuquois syndrome],[1818],,,,, +GARD:16452,Active,Orphanet+OMIM,OMIM:278730,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group d","[Xp, group d, xp, group h, formerly, xeroderma pigmentosum iv, xp4 xeroderma pigmentosum viii, formerly]","Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by {3:Flejter et al., 1992}).",[278730],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,,,, +GARD:16453,Active,Orphanet+OMIM,OMIM:611944,Subtype of disorder,[Disease subtype],Lymphatic malformation 2,,"Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {2:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}.",[611944],[79452],[Milroy disease],[7220],,,,, +GARD:16454,Active,Orphanet+OMIM,OMIM:612580,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 3","[Mental retardation, autosomal dominant 3]",,[612580],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16455,Active,Orphanet+OMIM,OMIM:612581,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 4",,,[612581],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16456,Active,Orphanet+OMIM,OMIM:613480,Subtype of disorder,[Disease subtype],Lymphatic malformation 3,"[Lymphedema, hereditary, ic, formerly]","Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {3:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}.",[613480],[79452],[Milroy disease],[7220],,,,, +GARD:16457,Active,Orphanet+OMIM,OMIM:613943,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 8","[Lamellar ichthyosis, late-onset, ichthyosis, lamellar, 4, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[613943],[313],[Lamellar ichthyosis],[10803],,,,, +GARD:16458,Active,Orphanet+OMIM,OMIM:614113,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 2",,,[614113],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16459,Active,Orphanet+OMIM,OMIM:614255,Subtype of disorder,[Etiological subtype],Nescav syndrome,"[Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment, mental retardation, autosomal dominant 9, formerly]","NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, and learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by {6:Nemani et al., 2020}).",[614255],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:1646,Active,Orphanet,ORPHA:3327,Disorder,[Malformation syndrome],Thyrocerebrorenal syndrome,[Cutler-Bass-Romshe syndrome],"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.",[274240],,,,,Cutler Bass Romshe syndrome,TRUE,FALSE,Active +GARD:16460,Active,Orphanet+OMIM,OMIM:614256,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 10","[Mental retardation, autosomal dominant 10]",,[614256],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16461,Active,Orphanet+OMIM,OMIM:614257,Subtype of disorder,[Etiological subtype],Chromosome 20q11-q12 deletion syndrome,"[mental retardation, autosomal dominant 11, included, Intellectual developmental disorder, autosomal dominant 11, included]","Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by {4:Loddo et al., 2018}).",[614257],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16462,Active,Orphanet+OMIM,OMIM:614563,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 13","[mental retardation, autosomal dominant 13, with neuronal migration defects, Mental retardation, autosomal dominant 13]","MRD13 is an autosomal dominant intellectual developmental disorder associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by {6:Willemsen et al., 2012} and {3:Poirier et al., 2013}).",[614563],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16463,Active,Orphanet+OMIM,OMIM:615107,Subtype of disorder,[Disease subtype],Cowden syndrome 4,,,[615107],[201],[Cowden syndrome],[6202],,,,, +GARD:16464,Active,Orphanet+OMIM,OMIM:615108,Subtype of disorder,[Disease subtype],Cowden syndrome 5,,,[615108],[201],[Cowden syndrome],[6202],,,,, +GARD:16465,Active,Orphanet+OMIM,OMIM:615109,Subtype of disorder,[Disease subtype],Cowden syndrome 6,,,[615109],[201],[Cowden syndrome],[6202],,,,, +GARD:16466,Active,Orphanet+OMIM,OMIM:615777,Subtype of disorder,[Malformation syndrome subtype],Desbuquois dysplasia 2,[Baratela-scott syndrome],"Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {2:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 ({251450}).",[615777],[1425],[Desbuquois syndrome],[1818],,,,, +GARD:16467,Active,Orphanet+OMIM,OMIM:615828,Subtype of disorder,[Etiological subtype],Vulto-van silfhout-de vries syndrome,"[Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures, mental retardation, autosomal dominant 24]","Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by {2:Nabais Sa et al., 2019}).",[615828],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16468,Active,Orphanet+OMIM,OMIM:615907,Subtype of disorder,[Disease subtype],Lymphatic malformation 4,"[Lymphedema, hereditary, id, formerly]",,[615907],[79452],[Milroy disease],[7220],,,,, +GARD:16469,Active,Orphanet+OMIM,OMIM:616393,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 38","[Mental retardation, autosomal dominant 38, psychomotor retardation, epilepsy, and language disability syndrome]",,[616393],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16470,Active,Orphanet+OMIM,OMIM:616858,Subtype of disorder,[Disease subtype],Cowden syndrome 7,,,[616858],[201],[Cowden syndrome],[6202],,,,, +GARD:16471,Active,Orphanet+OMIM,OMIM:617571,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 14",,,[617571],[313],[Lamellar ichthyosis],[10803],,,,, +GARD:16472,Active,Orphanet+OMIM,OMIM:617796,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 52","[Mental retardation, autosomal dominant 52]",,[617796],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16473,Active,Orphanet+OMIM,OMIM:617798,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 53","[Mental retardation, autosomal dominant 53]",,[617798],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16474,Active,Orphanet+OMIM,OMIM:617799,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 54","[Mental retardation, autosomal dominant 54]",,[617799],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16475,Active,Orphanet+OMIM,OMIM:618095,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 63","[Mental retardation, autosomal recessive 63]",,[618095],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16476,Active,Orphanet+OMIM,OMIM:618106,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 58","[Mental retardation, autosomal dominant 58]",,[618106],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16477,Active,Orphanet+OMIM,OMIM:618330,Subtype of disorder,[Etiological subtype],Global developmental delay with or without impaired intellectual development,,,[618330],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16478,Active,Orphanet+OMIM,OMIM:619188,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 64","[Mental retardation, autosomal dominant 64]","Autosomal dominant intellectual developmental disorder-64 (MRD64) is characterized by mildly to severely impaired intellectual development (ID) with speech delays. Most patients also have autism spectrum disorder (ASD). Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder (ADHD), and nonspecific dysmorphic features (summary by {1:Mirzaa et al., 2020}).",[619188],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16479,Active,Orphanet,ORPHA:663,Disorder,[Disease],Mitochondrial DNA-related progressive external ophthalmoplegia,"[Maternally-inherited CPEO, Maternally-inherited chronic progressive external ophthalmoplegia, mtDNA-related progressive external ophthalmoplegia]",,,,,,,,,, +GARD:16480,Active,Orphanet,ORPHA:59181,Disorder,[Disease],Sorsby pseudoinflammatory fundus dystrophy,,"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","[136900, 264420]",,,,,,,, +GARD:16481,Active,Orphanet,ORPHA:280183,Disorder,[Biological anomaly],Methylmalonic aciduria due to transcobalamin receptor defect,"[Methylmalonic acidemia, TCb1R type, Methylmalonic acidemia, TCbIR type]","Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.",[613646],,,,,,,, +GARD:16482,Active,Orphanet,ORPHA:91483,Disorder,[Morphological anomaly],Rieger anomaly,,"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).","[601631, 137600, 602482]",,,,,,,, +GARD:16483,Active,Orphanet+OMIM,OMIM:618641,Subtype of disorder,[Disease subtype],Infantile liver failure syndrome 3,,"Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by {1:Cousin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438}).",[618641],[464724],[Fever-associated acute infantile liver failure syndrome],[17820],,,,, +GARD:16484,Active,Orphanet,ORPHA:98634,Group of disorders,[Category],Anterior segment developmental anomaly without extraocular manifestations,,,,,,,,,,, +GARD:16485,Active,Orphanet,ORPHA:98978,Disorder,[Morphological anomaly],Axenfeld anomaly,,"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","[601631, 602482]",,,,,,,, +GARD:16486,Active,Orphanet,ORPHA:254892,Disorder,[Disease],Autosomal dominant progressive external ophthalmoplegia,[adPEO],"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.","[610131, 157640, 609286, 609283, 613077]",,,,,,,, +GARD:16487,Active,Orphanet,ORPHA:329931,Subtype of disorder,[Histopathological subtype],C3 glomerulonephritis,,"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.",[614809],,,,,,,, +GARD:16489,Active,Orphanet,ORPHA:280133,Disorder,[Disease],Complement component 3 deficiency,[C3 deficiency],"Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.",[613779],,,,,,,, +GARD:16490,Active,Orphanet,ORPHA:156005,Group of disorders,[Clinical group],Primary early-onset glaucoma,,,,,,,,,,, +GARD:16491,Active,Orphanet+OMIM,OMIM:100070,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 1",,"Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by {16:Kuivaniemi et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Abdominal Aortic Aneurysm\n\nMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 ({609782}) on chromosome 4q31; AAA3 ({611891}) on chromosome 9p21; and AAA4 ({614375}) on chromosome 12q13.",[100070],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16492,Active,Orphanet+OMIM,OMIM:609782,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070}).",[609782],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16493,Active,Orphanet+OMIM,OMIM:611891,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070}).",[611891],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16494,Active,Orphanet+OMIM,OMIM:614375,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 ({100070}).",[614375],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16495,Active,Orphanet+OMIM,OMIM:618388,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 2,,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({3:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618388],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16496,Active,Orphanet+OMIM,OMIM:618389,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 3,,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({2:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618389],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16497,Active,Orphanet+OMIM,OMIM:618393,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 4,,"Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by {1:Bonnin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618393],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16498,Active,Orphanet+OMIM,OMIM:609283,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2","[Progressive external ophthalmoplegia, autosomal dominant 2]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({1:Filosto et al., 2003}; {8:Luoma et al., 2004}).\n\nPEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).",[609283],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16499,Active,Orphanet+OMIM,OMIM:609286,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3","[Progressive external ophthalmoplegia, autosomal dominant 3]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by {3:Fratter et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).\n\nPEO caused by mutations in the POLG gene ({174763}) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 ({103220}) or C10ORF2 genes ({6:Lamantea et al., 2002}).",[609286],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16500,Active,Orphanet+OMIM,OMIM:610131,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4","[Progressive external ophthalmoplegia, autosomal dominant 4]","Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by {2:Young et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).",[610131],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16501,Active,Orphanet+OMIM,OMIM:613077,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5","[Progressive external ophthalmoplegia, autosomal dominant 5]",,[613077],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16502,Active,Orphanet+OMIM,OMIM:166780,Subtype of disorder,[Malformation syndrome subtype],Otofaciocervical syndrome 1,[Ofc],"Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {5:Pohl et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Otofaciocervical Syndrome\n\nOTFCS2 ({615560}) is caused by mutation in the PAX1 gene ({167411}) on chromosome 20p11.",[166780],[2792],[Otofaciocervical syndrome],[4169],,,,, +GARD:16503,Active,Orphanet+OMIM,OMIM:615560,Subtype of disorder,[Malformation syndrome subtype],"Otofaciocervical syndrome 2, with t-cell deficiency",[Ofc2],"Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {3:Pohl et al., 2013}). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections ({1:Paganini et al., 2017}; {4:Yamazaki et al., 2020}).\n\nFor a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 ({166780}).",[615560],[2792],[Otofaciocervical syndrome],[4169],,,,, +GARD:16504,Active,Orphanet+OMIM,OMIM:605751,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 2","[Convulsions, benign familial infantile, 2]","Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by {10:Weber et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).\n\nBenign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; {602066}) and paroxysmal kinesigenic choreoathetosis (EKD1; {128200}).",[605751],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16505,Active,Orphanet+OMIM,OMIM:612627,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[612627],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16506,Active,Orphanet+OMIM,OMIM:617080,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 5","[Convulsions, benign familial infantile, 5]","Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by {2:Gardella et al., 2016} and {1:Anand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[617080],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16507,Active,Orphanet+OMIM,OMIM:602096,Subtype of disorder,[Disease subtype],Alzheimer disease 5,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[602096],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16508,Active,Orphanet+OMIM,OMIM:605055,Subtype of disorder,[Disease subtype],"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",,,[605055],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16509,Active,Orphanet+OMIM,OMIM:605526,Subtype of disorder,[Disease subtype],Alzheimer disease 6,,"Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results from the combined effects of variation in a number of genes as well as from environmental factors (summary by {11:Grupe et al., 2006}).\n\nThe Alzheimer disease-6 (AD6) designation refers to a susceptibility locus on chromosome 10q. Although significant associations with several candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial ({11:Grupe et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[605526],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16510,Active,Orphanet+OMIM,OMIM:606187,Subtype of disorder,[Disease subtype],Alzheimer disease 7,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[606187],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16511,Active,Orphanet+OMIM,OMIM:606889,Subtype of disorder,[Disease subtype],Alzheimer disease 4,"[Ad4, alzheimer disease, familial, 4]",,[606889],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16512,Active,Orphanet+OMIM,OMIM:607116,Subtype of disorder,[Disease subtype],Alzheimer disease 8,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[607116],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16513,Active,Orphanet+OMIM,OMIM:607822,Subtype of disorder,[Disease subtype],Alzheimer disease 3,"[alzheimer disease, familial, 3, Alzheimer disease 3, early-onset]",,[607822],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16514,Active,Orphanet+OMIM,OMIM:609636,Subtype of disorder,[Disease subtype],Alzheimer disease 10,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[609636],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16515,Active,Orphanet+OMIM,OMIM:609790,Subtype of disorder,[Disease subtype],Alzheimer disease 11,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[609790],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16516,Active,Orphanet+OMIM,OMIM:611073,Subtype of disorder,[Disease subtype],Alzheimer disease 12,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[611073],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16517,Active,Orphanet+OMIM,OMIM:611152,Subtype of disorder,[Disease subtype],Alzheimer disease 13,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[611152],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16518,Active,Orphanet+OMIM,OMIM:611154,Subtype of disorder,[Disease subtype],Alzheimer disease 14,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[611154],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16519,Active,Orphanet+OMIM,OMIM:182230,Subtype of disorder,[Disease subtype],Septooptic dysplasia,[De morsier syndrome],"Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum ({8:Dattani et al., 1998}). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by {24:Webb and Dattani, 2010}).\n\nAlso see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.",[182230],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,,,, +GARD:16520,Active,Orphanet+OMIM,OMIM:613986,Subtype of disorder,[Disease subtype],"Pituitary hormone deficiency, combined, 6",,,[613986],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,,,, +GARD:16521,Active,Orphanet+OMIM,OMIM:607745,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 3","[seizures, benign familial neonatal-infantile, Convulsions, benign familial infantile, 3]","Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae ({7:Shevell et al., 1986}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[607745],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16522,Active,Orphanet,ORPHA:187,Group of disorders,[Category],Citrullinemia,,"Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).",,,,,,,,, +GARD:16523,Active,Orphanet,ORPHA:364,Disorder,[Disease],Glycogen storage disease due to glucose-6-phosphatase deficiency,"[G6P deficiency, GSD due to G6P deficiency, GSD type 1, GSD type I, Glycogen storage disease due to G6P deficiency, Glycogen storage disease type 1, Glycogen storage disease type I, Glycogenosis type 1, Glycogenosis type I, Hepatorenal glycogenosis, Von Gierke disease]","Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","[232240, 232200, 232220]",,,,,,,, +GARD:16524,Active,Orphanet,ORPHA:79133,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type I,"[Bitemporal aplasia cutis congenita, Brauer syndrome, FFDD type I, FFDD1, Focal facial dermal dysplasia 1, Brauer type, Focal facial dermal dysplasia type 1]","Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.",[136500],,,,,,,, +GARD:16526,Active,Orphanet,ORPHA:205,Disorder,[Disease],Crigler-Najjar syndrome,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency, Bilirubin-UGT deficiency]",A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.,"[606785, 218800]",,,,,,,, +GARD:16527,Active,Orphanet,ORPHA:301,Group of disorders,[Clinical group],Ependymal tumor,,"A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors).",[137800],,,,,,,, +GARD:16528,Active,Orphanet,ORPHA:317,Disorder,[Disease],Erythrokeratodermia variabilis,"[EKV, Erythrokeratodermia variabilis, Mendes da Costa type]",,"[617524, 617525, 617526, 133200]",,,,,,,, +GARD:16529,Active,Orphanet,ORPHA:391,Disorder,[Disease],Classic Hodgkin lymphoma,[Classic Hodgkin disease],Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.,"[236000, 300221, 400021]",,,,,,,, +GARD:1653,Legacy,GARD,,,,,,,,,,,,Cystic hygroma lethal cleft palate,TRUE,FALSE,Retired +GARD:16530,Active,Orphanet,ORPHA:416,Disorder,[Disease],Primary hyperoxaluria,,"A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.","[259900, 260000, 613616]",,,,,,,, +GARD:16531,Active,Orphanet,ORPHA:422,Disorder,[Disease],Idiopathic/heritable pulmonary arterial hypertension,[Idiopathic and/or familial pulmonary arterial hypertension],"A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.","[615342, 178600, 615343, 265400, 615344]",,,,,,,, +GARD:16532,Active,Orphanet,ORPHA:427,Disorder,[Disease],Familial hypoaldosteronism,,"A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.","[606984, 203400, 610600]",,,,,,,, +GARD:16533,Active,Orphanet,ORPHA:432,Subtype of disorder,[Clinical subtype],Normosmic congenital hypogonadotropic hypogonadism,"[Normosmic idiopathic hypogonadotropic hypogonadism, nIHH]",,"[308700, 614837, 612370, 614838, 610628, 614839, 614840, 146110, 614841, 615269, 615270, 244200, 614842, 614858, 612702, 147950, 614880, 615266]",,,,,,,, +GARD:16534,Active,Orphanet,ORPHA:557,Group of disorders,[Clinical group],Non-syndromic anorectal malformation,[Non-syndromic ARM],"A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.","[107100, 207500, 301800]",,,,,,,, +GARD:16535,Active,Orphanet,ORPHA:558,Disorder,[Disease],Marfan syndrome,[MFS],"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.","[154700, 610168]",,,,,,,, +GARD:16536,Active,Orphanet,ORPHA:598,Disorder,[Disease],Multiminicore myopathy,"[MmD, Multiminicore disease]",A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.,"[255320, 117000, 602771]",,,,,,,, +GARD:16537,Active,Orphanet,ORPHA:622,Disorder,[Disease],Homocystinuria without methylmalonic aciduria,"[Functional methionine synthase deficiency, Methylcobalamin deficiency]","Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).","[277410, 250940, 236270]",,,,,,,, +GARD:16538,Active,Orphanet,ORPHA:632,Subtype of disorder,[Clinical subtype],Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,,,[307200],,,,,,,, +GARD:16539,Active,Orphanet,ORPHA:650,Disorder,[Disease],LCAT deficiency,[Lecithin-cholesterol acyltransferase deficiency],"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.","[245900, 136120]",,,,,,,, +GARD:1654,Active,Orphanet,ORPHA:229,Disorder,[Disease],Familial aortic dissection,"[Annuloaortic ectasia, Cystic medial necrosis of aorta]","Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.",[607086],,,,,Cystic medial necrosis of aorta,TRUE,FALSE,Active +GARD:16540,Active,Orphanet,ORPHA:660,Disorder,[Morphological anomaly],Omphalocele,,"A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.","[164750, 310980]",,,,,,,, +GARD:16541,Active,Orphanet,ORPHA:712,Disorder,[Disease],Hemolytic anemia due to glucophosphate isomerase deficiency,,Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.,[613470],,,,,,,, +GARD:16542,Active,Orphanet,ORPHA:737,Disorder,[Disease],Porokeratosis plantaris palmaris et disseminata,"[Palmar, plantar and disseminated porokeratosis]","A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.",[175850],,,,,,,, +GARD:16543,Active,Orphanet,ORPHA:743,Disorder,[Disease],Severe hereditary thrombophilia due to congenital protein S deficiency,[Autosomal recessive thrombophilia due to congenital protein S deficiency],An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.,"[614514, 612336]",,,,,,,, +GARD:16544,Active,Orphanet,ORPHA:745,Disorder,[Disease],Severe hereditary thrombophilia due to congenital protein C deficiency,"[Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive thrombophilia due to congenital protein C deficiency]",Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.,"[612304, 176860]",,,,,,,, +GARD:16545,Active,Orphanet,ORPHA:756,Disorder,[Disease],Pseudohypoaldosteronism type 1,"[PHA type 1, PHA1]","A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.","[264350, 177735]",,,,,,,, +GARD:16546,Active,Orphanet,ORPHA:759,Disorder,[Disease],Central precocious puberty,"[CPP, Gonadotropin-dependant precocious puberty]","Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).","[615346, 176400]",,,,,,,, +GARD:16547,Active,Orphanet,ORPHA:768,Group of disorders,[Clinical group],Familial long QT syndrome,"[Congenital long QT syndrome, LQTS]","A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.","[220400, 611818, 616247, 611819, 618447, 611820, 616249, 613693, 601005, 613695, 600919, 603830, 612955, 613688, 613485, 192500, 612347]",,,,,,,, +GARD:16548,Active,Orphanet,ORPHA:785,Disorder,[Disease],Estrogen resistance syndrome,,"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.",[615363],,,,,,,, +GARD:16549,Active,Orphanet,ORPHA:833,Disorder,[Disease],Encephalopathy due to sulfite oxidase deficiency,,"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.","[272300, 252160, 615501, 252150]",,,,,,,, +GARD:16550,Active,Orphanet,ORPHA:844,Disorder,[Disease],Lown-Ganong-Levine syndrome,"[Atrial tachyarrhythmia with short PR interval, LGL syndrome]","Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).",[108950],,,,,,,, +GARD:16551,Active,Orphanet,ORPHA:959,Disorder,[Malformation syndrome],Acro-renal-ocular syndrome,,"A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.",[607323],,,,,,,, +GARD:16552,Active,Orphanet,ORPHA:983,Disorder,[Morphological anomaly],Testicular regression syndrome,"[ETRS, Embryonic testicular regression syndrome, TRS, Vanishing testes syndrome, Vanishing testis syndrome, XY gonadal agenesis syndrome]","Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.",[273250],,,,,,,, +GARD:16553,Active,Orphanet,ORPHA:1014,Disorder,[Disease],Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,[Devriendt-Vandenberghe-Fryns syndrome],"A rare syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal.",[601217],,,,,,,, +GARD:16554,Active,Orphanet,ORPHA:1027,Disorder,[Malformation syndrome],Autosomal recessive amelia,,"A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.",[601360],,,,,,,, +GARD:16555,Active,Orphanet,ORPHA:1083,Disorder,[Morphological anomaly],Microlissencephaly,,"Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.","[614019, 616212]",,,,,,,, +GARD:16556,Active,Orphanet,ORPHA:1147,Disorder,[Malformation syndrome],Sheldon-Hall syndrome,"[Distal arthrogryposis type 2B, Freeman-Sheldon syndrome variant]","Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.","[618435, 616266, 601680]",,,,,,,, +GARD:16557,Active,Orphanet,ORPHA:1166,Disorder,[Morphological anomaly],Congenital unilateral hypoplasia of depressor anguli oris,[Isolated asymmetric crying facies],"A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.",[125520],,,,,,,, +GARD:16558,Active,Orphanet,ORPHA:1175,Disorder,[Disease],X-linked progressive cerebellar ataxia,,"A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.",[302500],,,,,,,, +GARD:16559,Active,Orphanet,ORPHA:1178,Disorder,[Disease],Ataxia-tapetoretinal degeneration syndrome,,"A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.",[272600],,,,,,,, +GARD:16560,Active,Orphanet,ORPHA:1182,Disorder,[Disease],Spastic ataxia with congenital miosis,"[Autosomal dominant spastic ataxia type 7, SPAX7]","Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.",[108650],,,,,,,, +GARD:16561,Active,Orphanet,ORPHA:1194,Disorder,[Disease],TMEM70-related mitochondrial encephalo-cardio-myopathy,"[Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency]","Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.",[614052],,,,,,,, +GARD:16562,Active,Orphanet,ORPHA:1295,Disorder,[Malformation syndrome],Brachytelephalangy-dysmorphism-Kallmann syndrome,,"A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.",[113480],,,,,,,, +GARD:16563,Active,Orphanet,ORPHA:1336,Disorder,[Disease],Hyperkeratosis-hyperpigmentation syndrome,,"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.",[144190],,,,,,,, +GARD:16564,Active,Orphanet,ORPHA:1344,Disorder,[Disease],Atrial standstill,[Atrial cardiomyopathy with heart block],"A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.","[108770, 615745]",,,,,,,, +GARD:16565,Active,Orphanet,ORPHA:1422,Disorder,[Malformation syndrome],Chondrodysplasia-disorder of sex development syndrome,[Nivelon-Nivelon-Mabille syndrome],"A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.",[600092],,,,,,,, +GARD:16566,Active,Orphanet,ORPHA:1479,Disorder,[Malformation syndrome],Atrial septal defect-atrioventricular conduction defects syndrome,,"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.",[108900],,,,,,,, +GARD:16567,Active,Orphanet,ORPHA:1488,Disorder,[Malformation syndrome],Cooper-Jabs syndrome,[Aural atresia-multiple congenital anomalies-intellectual disability syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.",[209770],,,,,,,, +GARD:16568,Active,Orphanet,ORPHA:1507,Subtype of disorder,[Clinical subtype],Autosomal recessive Robinow syndrome,"[COVESDEM syndrome, Costovertebral segmentation defect-mesomelia syndrome, RRS]","Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.","[268310, 618529]",,,,,,,, +GARD:16569,Active,Orphanet,ORPHA:1561,Disorder,[Disease],Fatal infantile cytochrome C oxidase deficiency,"[Fatal infantile COX deficiency, Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency]",Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.,"[616500, 616501, 615119, 604377]",,,,,,,, +GARD:1657,Legacy,GARD,,,,,,,,,,,,Cytomegalic inclusion disease,TRUE,FALSE,Active +GARD:16570,Active,Orphanet,ORPHA:1587,Disorder,[Malformation syndrome],Monosomy 13q14,"[Del(13)(q14), Deletion 13q14]","Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.",[613884],,,,,,,, +GARD:16571,Active,Orphanet,ORPHA:1590,Disorder,[Malformation syndrome],Distal monosomy 13q,"[13q32 deletion, Deletion 13q32, Distal 13q deletion, Monosomy 13q32, Telomeric deletion13q]","Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.",[602553],,,,,,,, +GARD:16572,Active,Orphanet,ORPHA:1596,Disorder,[Malformation syndrome],Distal monosomy 15q,"[15q26 deletion syndrome, Distal 15q deletion syndrome, Monosomy 15q26, Telomeric 15q deletion syndrome]","Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.",[612626],,,,,,,, +GARD:16573,Active,Orphanet,ORPHA:1621,Disorder,[Malformation syndrome],3q13 microdeletion syndrome,"[Del(3)(q13), Monosomy 3q13]","3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.",[615433],,,,,,,, +GARD:16574,Active,Orphanet,ORPHA:1646,Disorder,[Malformation syndrome],Partial chromosome Y deletion,[Male sterility due to chromosome Y deletion],Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.,"[400042, 415000]",,,,,,,, +GARD:16575,Active,Orphanet,ORPHA:1653,Disorder,[Disease],Dentin dysplasia,[DD],Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).,"[125420, 125400]",,,,,,,, +GARD:16576,Active,Orphanet,ORPHA:1670,Disorder,[Disease],Chronic diarrhea with villous atrophy,,"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.","[618662, 520100]",,,,,,,, +GARD:16577,Active,Orphanet,ORPHA:1682,Disorder,[Malformation syndrome],Arterial dissection-lentiginosis syndrome,,"A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).",[600459],,,,,,,, +GARD:16578,Active,Orphanet,ORPHA:1812,Disorder,[Malformation syndrome],Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,,"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.",[225040],,,,,,,, +GARD:16579,Active,Orphanet,ORPHA:1848,Subtype of disorder,[Clinical subtype],"Renal agenesis, bilateral",,"A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.","[191830, 617805]",,,,,,,, +GARD:1658,Legacy,GARD,,,,,,,,,,,,Cytoplasmic body myopathy,TRUE,FALSE,Active +GARD:16580,Active,Orphanet,ORPHA:1926,Disorder,[Malformation syndrome],Diabetic embryopathy,,A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.,[601759],,,,,,,, +GARD:16581,Active,Orphanet,ORPHA:1935,Disorder,[Clinical syndrome],Early myoclonic encephalopathy,[Early myoclonic encephalopathy with suppression-bursts],"A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.","[616341, 609304, 617105]",,,,,,,, +GARD:16582,Active,Orphanet,ORPHA:2024,Disorder,[Malformation syndrome],Hereditary gingival fibromatosis,"[Autosomal dominant gingival fibromatosis, Autosomal dominant gingival hyperplasia, Hereditary gingival hyperplasia]","Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","[611010, 135300, 617626, 605544, 609955]",,,,,,,, +GARD:16583,Active,Orphanet,ORPHA:2028,Subtype of disorder,[Clinical subtype],Juvenile hyaline fibromatosis,"[Murray-Puretic-Drescher syndrome, Puretic syndrome]","A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.",[228600],,,,,,,, +GARD:16584,Active,Orphanet,ORPHA:2076,Group of disorders,[Clinical group],X-linked intellectual disability-epilepsy syndrome,,,"[300607, 300088, 300423]",,,,,,,, +GARD:16585,Active,Orphanet,ORPHA:2138,Disorder,[Malformation syndrome],"46,XX ovotesticular disorder of sex development","[46,XX ovotesticular DSD]","A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.",[400045],,,,,,,, +GARD:16586,Active,Orphanet,ORPHA:2149,Disorder,[Morphological anomaly],Nodular neuronal heterotopia,,"A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.","[612881, 300049, 617201, 608098, 608097, 615544]",,,,,,,, +GARD:16587,Active,Orphanet,ORPHA:2197,Disorder,[Disease],Idiopathic hypercalciuria,,"A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.","[143870, 607258]",,,,,,,, +GARD:16588,Active,Orphanet,ORPHA:2232,Disorder,[Disease],Primary hypergonadotropic hypogonadism-partial alopecia syndrome,[Al Awadi-Farag-Teebi syndrome],This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.,[241090],,,,,,,, +GARD:16589,Active,Orphanet,ORPHA:2239,Subtype of disorder,[Clinical subtype],Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,,"A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.","[146200, 307700]",,,,,,,, +GARD:16590,Active,Orphanet,ORPHA:2250,Disorder,[Disease],Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,"[Bosma arhinia-microphthalmia syndrome, Bosma-Henkin-Christiansen syndrome]","This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.",[603457],,,,,,,, +GARD:16591,Active,Orphanet,ORPHA:2257,Disorder,[Morphological anomaly],Primary pulmonary hypoplasia,,"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.",[265430],,,,,,,, +GARD:16592,Active,Orphanet,ORPHA:2301,Disorder,[Morphological anomaly],Congenital short bowel syndrome,,"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.","[300048, 615237]",,,,,,,, +GARD:16593,Active,Orphanet,ORPHA:2310,Disorder,[Malformation syndrome],Absence deformity of leg-cataract syndrome,,"A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.",[246000],,,,,,,, +GARD:16594,Active,Orphanet,ORPHA:2333,Disorder,[Malformation syndrome],Kenny-Caffey syndrome,[Kenny syndrome],"A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.","[244460, 127000]",,,,,,,, +GARD:16595,Active,Orphanet,ORPHA:2370,Disorder,[Malformation syndrome],Larsen-like osseous dysplasia-short stature syndrome,,"Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.",[608545],,,,,,,, +GARD:16596,Active,Orphanet,ORPHA:2374,Disorder,[Malformation syndrome],Congenital laryngeal web,,A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.,[150360],,,,,,,, +GARD:16597,Active,Orphanet,ORPHA:2375,Disorder,[Malformation syndrome],Laryngeal abductor paralysis-intellectual disability syndrome,[Plott syndrome],"A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.",[308850],,,,,,,, +GARD:16598,Active,Orphanet,ORPHA:2429,Disorder,[Malformation syndrome],Macrocephaly-spastic paraplegia-dysmorphism syndrome,[Fryns macrocephaly],"Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.",[600302],,,,,,,, +GARD:16599,Active,Orphanet,ORPHA:2430,Disorder,[Malformation syndrome],Congenital macroglossia,,"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.",[153630],,,,,,,, +GARD:166,Active,Orphanet,ORPHA:799,Disorder,[Disease],Schizencephaly,,"A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.",[269160],,,,,Schizencephaly,TRUE,FALSE,Active +GARD:16600,Active,Orphanet,ORPHA:2451,Disorder,[Malformation syndrome],Mucocutaneous venous malformations,"[Cutaneous and mucosal venous malformation, VMCM]","Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.",[600195],,,,,,,, +GARD:16601,Active,Orphanet,ORPHA:2477,Disorder,[Malformation syndrome],Megalencephaly,[Macroencephaly],"A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.","[155350, 248000]",,,,,,,, +GARD:16602,Active,Orphanet,ORPHA:2489,Disorder,[Malformation syndrome],Upper limb defect-eye and ear abnormalities syndrome,,"A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.",[274205],,,,,,,, +GARD:16603,Active,Orphanet,ORPHA:2518,Disorder,[Malformation syndrome],Autosomal recessive chorioretinopathy-microcephaly syndrome,[Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome],"A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.","[251270, 616335]",,,,,,,, +GARD:16604,Active,Orphanet,ORPHA:2680,Disorder,[Malformation syndrome],Hypomyelination neuropathy-arthrogryposis syndrome,,"Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.","[616287, 618186, 616286, 617468]",,,,,,,, +GARD:16605,Active,Orphanet,ORPHA:2688,Disorder,[Disease],Adult idiopathic neutropenia,[Adult chronic idiopathic neutropenia],"A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.",[607847],,,,,,,, +GARD:16606,Active,Orphanet,ORPHA:2714,Disorder,[Malformation syndrome],Oculo-palato-cerebral syndrome,[Oculo-palato-cerebral dwarfism],"Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.",[257910],,,,,,,, +GARD:16607,Active,Orphanet,ORPHA:2718,Disorder,[Malformation syndrome],Oculotrichodysplasia,[Cecato de Lima-Pinheiro syndrome],"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.",[257960],,,,,,,, +GARD:16608,Active,Orphanet,ORPHA:2733,Disorder,[Malformation syndrome],Omodysplasia,,"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","[258315, 164745]",,,,,,,, +GARD:16609,Active,Orphanet,ORPHA:2809,Disorder,[Disease],Familial recurrent peripheral facial palsy,[Familial recurrent Bell palsy],"Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.",[134200],,,,,,,, +GARD:16610,Active,Orphanet,ORPHA:2828,Disorder,[Disease],Young-onset Parkinson disease,"[Early-onset Parkinson disease, YOPD]","A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.","[606852, 610297, 615528, 606324, 602404, 616840, 300557, 600116, 605909, 613643]",,,,,,,, +GARD:16611,Active,Orphanet,ORPHA:2839,Disorder,[Malformation syndrome],Pelvis-shoulder dysplasia,"[Kosenow syndrome, Scapuloiliac dysostosis]",Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.,[169550],,,,,,,, +GARD:16612,Active,Orphanet,ORPHA:2868,Disorder,[Malformation syndrome],Short stature-valvular heart disease-characteristic facies syndrome,,"Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.",[126190],,,,,,,, +GARD:16613,Active,Orphanet,ORPHA:2880,Disorder,[Disease],Phosphoenolpyruvate carboxykinase deficiency,[PEPCK deficiency],"A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.","[261650, 261680]",,,,,,,, +GARD:16614,Active,Orphanet,ORPHA:2916,Disorder,[Malformation syndrome],Postaxial polydactyly-dental and vertebral anomalies syndrome,,"Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.",[263540],,,,,,,, +GARD:16615,Active,Orphanet,ORPHA:2951,Disorder,[Malformation syndrome],Absent thumb-short stature-immunodeficiency syndrome,,"An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.",[274190],,,,,,,, +GARD:16616,Active,Orphanet,ORPHA:2968,Disorder,[Disease],Leukocyte adhesion deficiency,[LAD],"Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.","[116920, 266265, 612840]",,,,,,,, +GARD:16617,Active,Orphanet,ORPHA:2975,Disorder,[Malformation syndrome],"46,XX disorder of sex development-skeletal anomalies syndrome",,"A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.",[264270],,,,,,,, +GARD:16618,Active,Orphanet,ORPHA:3047,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, SBBYS type","[Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, SBBYS variant of Ohdo syndrome, SBBYSS, Say-Barber-Biesecker-Young-Simpson syndrome]","A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.",[603736],,,,,,,, +GARD:16619,Active,Orphanet,ORPHA:3092,Disorder,[Morphological anomaly],Fixed subaortic stenosis,,"Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.",[271950],,,,,,,, +GARD:16620,Active,Orphanet,ORPHA:3107,Subtype of disorder,[Clinical subtype],Autosomal dominant Robinow syndrome,,"The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.","[616331, 616894, 180700]",,,,,,,, +GARD:16621,Active,Orphanet,ORPHA:3137,Disorder,[Disease],Alpha-N-acetylgalactosaminidase deficiency,"[NAGA deficiency, Schindler disease]",A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.,"[609241, 609242]",,,,,,,, +GARD:16622,Active,Orphanet,ORPHA:3175,Disorder,[Disease],X-linked spasticity-intellectual disability-epilepsy syndrome,,"A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.",[308350],,,,,,,, +GARD:16623,Active,Orphanet,ORPHA:3189,Disorder,[Morphological anomaly],Congenital pulmonary valvar stenosis,[Congenital stenosis of pulmonary valve],"A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).",[265500],,,,,,,, +GARD:16624,Active,Orphanet,ORPHA:3231,Group of disorders,[Clinical group],Deafness-onychodystrophy syndrome,[Hearing loss-onychodystrophy syndrome],"Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.","[124480, 220500]",,,,,,,, +GARD:16625,Active,Orphanet,ORPHA:3260,Disorder,[Disease],Idiopathic hypereosinophilic syndrome,,"A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.",[607685],,,,,,,, +GARD:16626,Active,Orphanet,ORPHA:3366,Disorder,[Morphological anomaly],Non-syndromic metopic craniosynostosis,"[Isolated metopic craniosynostosis, Isolated trigonocephaly, Non-syndromic metopic suture synostosis]",Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.,"[190440, 614485]",,,,,,,, +GARD:16627,Active,Orphanet,ORPHA:3384,Disorder,[Morphological anomaly],Truncus arteriosus,"[Common aorticopulmonary trunk, Common arterial trunk, TAC]",Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.,[217095],,,,,,,, +GARD:16628,Active,Orphanet,ORPHA:3467,Disorder,[Disease],Hereditary xanthinuria,"[Classic xanthinuria, Xanthic urolithiasis, Xanthine stone disease]","A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.","[278300, 603592]",,,,,,,, +GARD:16629,Active,Orphanet,ORPHA:30925,Subtype of disorder,[Clinical subtype],Hereditary central diabetes insipidus,"[Hereditary CDI, Hereditary neurogenic diabetes insipidus]","Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.","[125700, 304900]",,,,,,,, +GARD:16630,Active,Orphanet,ORPHA:33445,Disorder,[Malformation syndrome],Neuroectodermal melanolysosomal disease,[Elejalde disease],"Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.",[256710],,,,,,,, +GARD:16631,Active,Orphanet,ORPHA:33574,Disorder,[Disease],Glutamate-cysteine ligase deficiency,[Gamma-glutamylcysteine synthetase deficiency],"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.",[230450],,,,,,,, +GARD:16632,Active,Orphanet,ORPHA:35078,Disorder,[Disease],T-B+ severe combined immunodeficiency due to JAK3 deficiency,[T-B+ SCID due to JAK3 deficiency],"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.",[600802],,,,,,,, +GARD:16633,Active,Orphanet,ORPHA:35093,Disorder,[Morphological anomaly],Non-syndromic sagittal craniosynostosis,"[Isolated sagittal craniosynostosis, Isolated scaphocephaly, Non-syndromic sagittal suture synostosis]",Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.,"[123100, 615529, 600775]",,,,,,,, +GARD:16634,Active,Orphanet,ORPHA:35099,Disorder,[Morphological anomaly],Non-syndromic bicoronal craniosynostosis,"[Isolated bicoronal craniosynostosis, Isolated brachycephaly, Non-syndromic bilateral coronal suture synostosis]",Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.,"[123100, 616602, 615314]",,,,,,,, +GARD:16635,Active,Orphanet,ORPHA:35120,Disorder,[Disease],Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,"[P5N deficiency, UMPH1 deficiency, Uridine 5'-monophosphate hydrolase deficiency]","Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.",[266120],,,,,,,, +GARD:16636,Active,Orphanet,ORPHA:35121,Disorder,[Disease],Lysosomal acid phosphatase deficiency,,"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.",[200950],,,,,,,, +GARD:16637,Active,Orphanet,ORPHA:35612,Disorder,[Malformation syndrome],Nanophthalmos,[Nanophthalmia],"A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.","[611897, 613517, 615972, 600165, 609549]",,,,,,,, +GARD:16638,Active,Orphanet,ORPHA:35664,Subtype of disorder,[Etiological subtype],ALDH18A1-related De Barsy syndrome,"[Delta-1-pyrroline 5-carboxylate synthetase deficiency, Neurocutaneous syndrome, Bicknell type, P5CS deficiency]","A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.",[219150],,,,,,,, +GARD:16639,Active,Orphanet,ORPHA:35909,Disorder,[Disease],Combined deficiency of factor V and factor VIII,"[F5F8D, FV and FVIII combined deficiency]",A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.,"[227310, 227300, 613625]",,,,,,,, +GARD:16640,Active,Orphanet,ORPHA:36367,Disorder,[Malformation syndrome],Distal monosomy 1q,"[Distal deletion 1q, Monosomy 1qter, Telomeric deletion 1q]","A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.",[612337],,,,,,,, +GARD:16641,Active,Orphanet,ORPHA:37612,Disorder,[Disease],Episodic ataxia type 1,[Episodic ataxia with myokymia],"A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.",[160120],,,,,,,, +GARD:16642,Active,Orphanet,ORPHA:39812,Disorder,[Disease],Graft versus host disease,[GVH],A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.,[614395],,,,,,,, +GARD:16643,Active,Orphanet,ORPHA:43115,Disorder,[Disease],Hereditary myopathy with lactic acidosis due to ISCU deficiency,"[Aconitase deficiency, ISCU myopathy, Iron-sulfur cluster deficiency myopathy, Myopathy with exercise intolerance, Swedish type]",A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.,[255125],,,,,,,, +GARD:16644,Active,Orphanet,ORPHA:47159,Disorder,[Disease],Proximal renal tubular acidosis,"[Renal tubular acidosis type 2, pRTA]",A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.,"[604278, 179830]",,,,,,,, +GARD:16645,Active,Orphanet,ORPHA:48431,Disorder,[Malformation syndrome],Congenital cataracts-facial dysmorphism-neuropathy syndrome,[CCFDN],Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.,[604168],,,,,,,, +GARD:16646,Active,Orphanet,ORPHA:50811,Disorder,[Disease],Lipodystrophy-intellectual disability-deafness syndrome,"[Lipodystrophy-intellectual disability-hearing loss syndrome, Rajab-Spranger syndrome]","Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.",[608154],,,,,,,, +GARD:16647,Active,Orphanet,ORPHA:50814,Disorder,[Malformation syndrome],Craniolenticulosutural dysplasia,[Boyadjiev-Jabs syndrome],"Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.",[607812],,,,,,,, +GARD:16648,Active,Orphanet,ORPHA:50815,Disorder,[Malformation syndrome],Branchiogenic deafness syndrome,"[Branchiogenic hearing loss syndrome, Mégarbané-Loiselet syndrome]","Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.",[609166],,,,,,,, +GARD:16649,Active,Orphanet,ORPHA:50944,Disorder,[Disease],Schöpf-Schulz-Passarge syndrome,"[Eccrine tumors-ectodermal dysplasia, Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome, Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome, Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome, SSPS]","Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.",[224750],,,,,,,, +GARD:16650,Active,Orphanet,ORPHA:51083,Disorder,[Disease],Familial short QT syndrome,[SQTS],"A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.","[609622, 609620, 609621]",,,,,,,, +GARD:16651,Active,Orphanet,ORPHA:51084,Disorder,[Disease],Torsade-de-pointes syndrome with short coupling interval,,"A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.",[613600],,,,,,,, +GARD:16652,Active,Orphanet,ORPHA:52047,Disorder,[Malformation syndrome],Braddock syndrome,"[Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency]","Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.",[608406],,,,,,,, +GARD:16653,Active,Orphanet,ORPHA:52054,Disorder,[Malformation syndrome],Craniosynostosis-intracranial calcifications syndrome,[Longman-Tolmie syndrome],"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.",[608432],,,,,,,, +GARD:16654,Active,Orphanet,ORPHA:52056,Disorder,[Malformation syndrome],Ulnar/fibula ray defect-brachydactyly syndrome,[Morava-Mehes syndrome],"A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.",[608571],,,,,,,, +GARD:16655,Active,Orphanet,ORPHA:52427,Disorder,[Disease],Retinitis punctata albescens,[RPA],A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.,[136880],,,,,,,, +GARD:16656,Active,Orphanet,ORPHA:53583,Disorder,[Disease],Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,"[DYT9, Episodic choreoathetosis/spasticity]","A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.",[601042],,,,,,,, +GARD:16657,Active,Orphanet,ORPHA:53691,Disorder,[Morphological anomaly],Congenital cornea plana,,"A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.","[217300, 121400]",,,,,,,, +GARD:16658,Active,Orphanet,ORPHA:53696,Disorder,[Malformation syndrome],Arthrogryposis-anterior horn cell disease syndrome,"[AAHD, Vuopala disease]","A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.",[611890],,,,,,,, +GARD:16659,Active,Orphanet,ORPHA:54057,Disorder,[Disease],Thrombotic thrombocytopenic purpura,"[Moschcowitz disease, TTP]","An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.",[274150],,,,,,,, +GARD:1666,Active,Orphanet,ORPHA:2181,Disorder,[Malformation syndrome],Hydrocephaly-tall stature-joint laxity syndrome,[Daish-Hardman-Lamont syndrome],"Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.",[236660],,,,,Daish Hardman Lamont syndrome,TRUE,FALSE,Active +GARD:16660,Active,Orphanet,ORPHA:55881,Disorder,[Disease],Adamantinoma,[Adamantinoma of long bones],"A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.",[102660],,,,,,,, +GARD:16661,Active,Orphanet,ORPHA:59298,Disorder,[Disease],Schilder disease,[Myelinoclastic diffuse sclerosis],Schilder's disease is a progressive demyelinating disorder of the central nervous system.,[272100],,,,,,,, +GARD:16662,Active,Orphanet,ORPHA:60015,Disorder,[Malformation syndrome],Enlarged parietal foramina,"[Catlin marks, Fenestrae parietales symmetricae, Foramina parietalia permagna, Hereditary cranium bifidum, Symmetric parietal foramina]","Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.","[609597, 168500, 609566]",,,,,,,, +GARD:16663,Active,Orphanet,ORPHA:60026,Disorder,[Disease],Pulmonary nodular lymphoid hyperplasia,[Pulmonary pseudolymphoma],Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.,[178610],,,,,,,, +GARD:16664,Active,Orphanet,ORPHA:60033,Disorder,[Disease],Idiopathic bronchiectasis,,"Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","[613071, 613021, 211400]",,,,,,,, +GARD:16665,Active,Orphanet,ORPHA:63269,Subtype of disorder,[Clinical subtype],Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,[Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome],,[201750],,,,,,,, +GARD:16666,Active,Orphanet,ORPHA:63273,Disorder,[Disease],Distal myopathy with posterior leg and anterior hand involvement,[Distal ABD-filaminopathy],"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.",[614065],,,,,,,, +GARD:16667,Active,Orphanet,ORPHA:64280,Disorder,[Disease],Childhood absence epilepsy,[Pyknolepsy],"Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.","[611942, 607681, 612269, 611136, 600131]",,,,,,,, +GARD:16668,Active,Orphanet,ORPHA:64739,Disorder,[Disease],Ovarian hyperstimulation syndrome,[OHSS],"A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.",[608115],,,,,,,, +GARD:16669,Active,Orphanet,ORPHA:65287,Disorder,[Disease],Beta-ureidopropionase deficiency,[Beta-alanine synthase deficiency],"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).",[613161],,,,,,,, +GARD:1667,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with facial hemangioma,TRUE,FALSE,Retired +GARD:16670,Active,Orphanet,ORPHA:65288,Disorder,[Malformation syndrome],Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,[Pancreatic and cerebellar agenesis],Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.,[609069],,,,,,,, +GARD:16671,Active,Orphanet,ORPHA:65683,Disorder,[Disease],Isolated focal cortical dysplasia,[Epilepsy due to FCD],"Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.",[607341],,,,,,,, +GARD:16672,Active,Orphanet,ORPHA:65720,Disorder,[Malformation syndrome],Arthrogryposis-severe scoliosis syndrome,"[Distal arthrogryposis type 4, Distal arthrogryposis type IID]","Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.",[609128],,,,,,,, +GARD:16673,Active,Orphanet,ORPHA:66630,Disorder,[Disease],Congenital pseudoarthrosis of the clavicle,[Congenital pseudarthrosis of the clavicle],"Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.",[118980],,,,,,,, +GARD:16674,Active,Orphanet,ORPHA:66637,Disorder,[Malformation syndrome],Diaphanospondylodysostosis,,"Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.",[608022],,,,,,,, +GARD:16675,Active,Orphanet,ORPHA:67041,Disorder,[Disease],Hyaluronidase deficiency,"[MPS9, MPSIX, Mucopolysaccharidosis type 9, Mucopolysaccharidosis type IX]","A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).",[601492],,,,,,,, +GARD:16676,Active,Orphanet,ORPHA:67044,Disorder,[Disease],Thrombocytopenia with congenital dyserythropoietic anemia,"[Congenital dyserythropoietic anemia with thombocytopenia, X-linked congenital dyserythropoietic anemia with thrombocytopenia, XDAT]","Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.",[300367],,,,,,,, +GARD:16677,Active,Orphanet,ORPHA:67045,Subtype of disorder,[Clinical subtype],X-linked intellectual disability with isolated growth hormone deficiency,[MRGH],,[300123],,,,,,,, +GARD:16678,Active,Orphanet,ORPHA:69061,Disorder,[Clinical syndrome],Idiopathic steroid-sensitive nephrotic syndrome,,"A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks.",[615861],,,,,,,, +GARD:16679,Active,Orphanet,ORPHA:69082,Disorder,[Malformation syndrome],Odonto-tricho-ungual-digito-palmar syndrome,"[OTUDP syndrome, Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type]","A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.",[601957],,,,,,,, +GARD:16680,Active,Orphanet,ORPHA:69084,Disorder,[Malformation syndrome],Pure hair and nail ectodermal dysplasia,"[HNED, Hair-nail ectodermal dysplasia, PHNED]","Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.","[614929, 614927, 602032, 614931, 614928]",,,,,,,, +GARD:16681,Active,Orphanet,ORPHA:69088,Disorder,[Disease],Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,[OL-EDA-ID],"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.",[300291],,,,,,,, +GARD:16682,Active,Orphanet,ORPHA:69125,Disorder,[Malformation syndrome],Anonychia with flexural pigmentation,,"A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.",[106750],,,,,,,, +GARD:16683,Active,Orphanet,ORPHA:69663,Disorder,[Disease],Low phospholipid-associated cholelithiasis,"[ABCB4-related cholelithiasis, LPAC]",A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.,[600803],,,,,,,, +GARD:16684,Active,Orphanet,ORPHA:69737,Disorder,[Malformation syndrome],Bosley-Salih-Alorainy syndrome,,"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.",[601536],,,,,,,, +GARD:16685,Active,Orphanet,ORPHA:70474,Disorder,[Disease],Leigh syndrome with cardiomyopathy,"[Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency, Cardiomyopathy with myopathy due to COX deficiency, Leigh disease with myopathy]",,"[618228, 618252, 256000]",,,,,,,, +GARD:16686,Active,Orphanet,ORPHA:71271,Disorder,[Malformation syndrome],Split hand-split foot-deafness syndrome,[Split hand-split foot-hearing loss syndrome],"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.",[220600],,,,,,,, +GARD:16687,Active,Orphanet,ORPHA:71289,Disorder,[Malformation syndrome],Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,[ATRUS syndrome],Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).,"[616738, 605432]",,,,,,,, +GARD:16688,Active,Orphanet,ORPHA:71493,Disorder,[Disease],Familial thrombocytosis,"[Familial thrombocythemia, Hereditary thrombocythemia]","Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.","[614521, 187950, 601977]",,,,,,,, +GARD:16689,Active,Orphanet,ORPHA:71528,Subtype of disorder,[Etiological subtype],Obesity due to prohormone convertase I deficiency,[PCI deficiency],"A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.",[600955],,,,,,,, +GARD:1669,Active,Orphanet,ORPHA:1566,Disorder,[Malformation syndrome],Dandy-Walker malformation-postaxial polydactyly syndrome,"[DWM with postaxial polydactyly, Pierquin syndrome]","A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.",[220220],,,,,Dandy-Walker malformation with postaxial polydactyly,TRUE,FALSE,Active +GARD:16690,Active,Orphanet,ORPHA:71529,Subtype of disorder,[Etiological subtype],Obesity due to melanocortin 4 receptor deficiency,[MC4R deficiency],"Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.","[618406, 601665]",,,,,,,, +GARD:16691,Active,Orphanet,ORPHA:73271,Disorder,[Disease],Bleeding diathesis due to a collagen receptor defect,,"Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.","[614200, 614201]",,,,,,,, +GARD:16692,Active,Orphanet,ORPHA:75249,Disorder,[Disease],Familial isolated restrictive cardiomyopathy,[Familial or idiopathic restrictive cardiomyopathy],A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.,"[615248, 612422, 115210, 617047, 609578]",,,,,,,, +GARD:16693,Active,Orphanet,ORPHA:75326,Disorder,[Disease],Retinal arterial tortuosity,"[Familial isolated retinal arterial tortuosity, Retinal arteriolar tortuosity, Retinal hemorrhage with vascular tortuosity, Tortuosity of retinal arteries]","A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.",[180000],,,,,,,, +GARD:16694,Active,Orphanet,ORPHA:75381,Disorder,[Disease],Cystoid macular dystrophy,"[Autosomal dominant cystoid macular edema, DCMD, Familial macular edema]","Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.",[153880],,,,,,,, +GARD:16695,Active,Orphanet,ORPHA:75391,Disorder,[Disease],Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,[Primary immunodeficiency due to MCM4 deficiency],"A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.",[609981],,,,,,,, +GARD:16696,Active,Orphanet,ORPHA:79076,Subtype of disorder,[Clinical subtype],Juvenile polyposis of infancy,[Infantile juvenile polyposis syndrome],"Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.","[175050, 612242]",,,,,,,, +GARD:16697,Active,Orphanet,ORPHA:79094,Disorder,[Malformation syndrome],Grange syndrome,"[Grange occlusive arterial syndrome, Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome]","Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.",[602531],,,,,,,, +GARD:16698,Active,Orphanet,ORPHA:79106,Disorder,[Malformation syndrome],Eiken syndrome,,"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.",[600002],,,,,,,, +GARD:16699,Active,Orphanet,ORPHA:79118,Disorder,[Disease],Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,,"A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.",[610199],,,,,,,, +GARD:16700,Active,Orphanet,ORPHA:79128,Disorder,[Disease],Lymphoid interstitial pneumonia,[Lymphocytic interstitial pneumonia],"A rare idiopathic interstitial pneumonia characterized by a diffuse, dense, polyclonal lymphoid cell infiltration of the pulmonary interstitium and air spaces, with high prevalence in patients with immune dysregulation. Presenting symptoms are non-specific and include dyspnea and cough. The clinical course is highly variable, ranging from spontaneous resolution to progressive, fatal respiratory failure.",[247610],,,,,,,, +GARD:16701,Active,Orphanet,ORPHA:79134,Disorder,[Disease],DEND syndrome,[Developmental delay-epilepsy-neonatal diabetes syndrome],"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.",[606176],,,,,,,, +GARD:16702,Active,Orphanet,ORPHA:79135,Disorder,[Disease],Episodic ataxia type 3,[Episodic ataxia-vertigo-tinnitus-myokymia syndrome],"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.",[606554],,,,,,,, +GARD:16703,Active,Orphanet,ORPHA:79136,Disorder,[Disease],Episodic ataxia type 4,"[PATX, Periodic vestibulocerebellar ataxia]","Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.",[606552],,,,,,,, +GARD:16704,Active,Orphanet,ORPHA:79137,Disorder,[Disease],Generalized epilepsy-paroxysmal dyskinesia syndrome,[GEPD],"Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.",[609446],,,,,,,, +GARD:16705,Active,Orphanet,ORPHA:79141,Disorder,[Disease],Hereditary painful callosities,"[Keratosis palmoplantaris nummularis, PPK nummularis, Plamoplantar hyperkeratosis nummularis, Plamoplantar keratoderma nummularis]","A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.",[114140],,,,,,,, +GARD:16706,Active,Orphanet,ORPHA:79146,Disorder,[Disease],Familial progressive hyperpigmentation,"[Melanosis diffusa congenita, Melanosis universalis hereditaria, Universal melanosis]","Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.","[614233, 145250]",,,,,,,, +GARD:16707,Active,Orphanet,ORPHA:79151,Disorder,[Disease],Acrokeratosis verruciformis of Hopf,[AKV of Hopf],"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.",[101900],,,,,,,, +GARD:16708,Active,Orphanet,ORPHA:79154,Disorder,[Disease],2-aminoadipic 2-oxoadipic aciduria,[Alpha-aminoadipic aciduria],"2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.",[204750],,,,,,,, +GARD:16709,Active,Orphanet,ORPHA:79156,Disorder,[Disease],Seizures-intellectual disability due to hydroxylysinuria syndrome,,"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.",[236900],,,,,,,, +GARD:1671,Active,Orphanet,ORPHA:2091,Disorder,[Malformation syndrome],Multinodular goiter-cystic kidney-polydactyly syndrome,"[Daneman-Davy-Mancer syndrome, Thyroid-renal-digital anomalies]","Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.",[138790],,,,,Daneman Davy Mancer syndrome,TRUE,FALSE,Active +GARD:16710,Active,Orphanet,ORPHA:79233,Disorder,[Disease],Hypoxanthine guanine phosphoribosyltransferase partial deficiency,"[HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, Kelley-Seegmiller syndrome]","Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.",[300323],,,,,,,, +GARD:16711,Active,Orphanet,ORPHA:79240,Disorder,[Disease],Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,"[GSD due to liver and muscle phosphorylase kinase deficiency, GSD type 9B, GSD type IXb, Glycogen storage disease type 9B, Glycogen storage disease type IXb, Glycogenosis due to liver and muscle phosphorylase kinase deficiency, Glycogenosis type 9B, Glycogenosis type IXb]",A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.,[261750],,,,,,,, +GARD:16712,Active,Orphanet,ORPHA:79244,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E2 deficiency,"[Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex component E2 deficiency]","A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.",[245348],,,,,,,, +GARD:16713,Active,Orphanet,ORPHA:79302,Disorder,[Disease],Congenital bile acid synthesis defect type 3,"[BASD3, Oxysterol 7-alpha-hydroxylase deficiency]",Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.,[613812],,,,,,,, +GARD:16714,Active,Orphanet,ORPHA:79312,Subtype of disorder,[Clinical subtype],Vitamin B12-unresponsive methylmalonic acidemia type mut-,"[Partial deficiency of methylmalonyl-CoA mutase, Vitamin B12-unresponsive methylmalonic aciduria type mut-]","Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.",[251000],,,,,,,, +GARD:16715,Active,Orphanet,ORPHA:79346,Disorder,[Malformation syndrome],"Chondrodysplasia punctata, tibial-metacarpal type",,"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.",[118651],,,,,,,, +GARD:16716,Active,Orphanet,ORPHA:79347,Disorder,[Malformation syndrome],"Chondrodysplasia punctata, Toriello type",[Toriello-Higgins-Miller syndrome],"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.",[215105],,,,,,,, +GARD:16717,Active,Orphanet,ORPHA:79350,Subtype of disorder,[Etiological subtype],"3-phosphoserine phosphatase deficiency, infantile/juvenile form","[PSPH deficiency, infantile/juvenile form]","3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).",[614023],,,,,,,, +GARD:16718,Active,Orphanet,ORPHA:79351,Subtype of disorder,[Etiological subtype],"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","[PHGDH deficiency, infantile/juvenile form]","3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form",[601815],,,,,,,, +GARD:16719,Active,Orphanet,ORPHA:79395,Disorder,[Disease],Keratoderma hereditarium mutilans with ichthyosis,"[Camisa disease, Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome, Loricrin keratoderma, Vohwinkel syndrome with ichthyosis]","Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.",[604117],,,,,,,, +GARD:1672,Legacy,GARD,,,,,,,,,,,,Davenport Donlan syndrome,TRUE,FALSE,Active +GARD:16720,Active,Orphanet,ORPHA:79409,Disorder,[Disease],Recessive dystrophic epidermolysis bullosa inversa,"[RDEB inversa, RDEB-I]",A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.,[226600],,,,,,,, +GARD:16721,Active,Orphanet,ORPHA:79431,Subtype of disorder,[Clinical subtype],Oculocutaneous albinism type 1A,"[OCA1A, Tyrosinase-negative oculocutaneous albinism]","A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.",[203100],,,,,,,, +GARD:16722,Active,Orphanet,ORPHA:79435,Disorder,[Disease],Oculocutaneous albinism type 4,[OCA4],"A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.",[606574],,,,,,,, +GARD:16723,Active,Orphanet,ORPHA:79457,Disorder,[Disease],Maculopapular cutaneous mastocytosis,[Urticaria pigmentosa],"Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.",[154800],,,,,,,, +GARD:16724,Active,Orphanet,ORPHA:79506,Disorder,[Disease],Cholesterol-ester transfer protein deficiency,"[CEPT deficiency, Familial hyperalphalipoproteinemia]",,"[143470, 614028]",,,,,,,, +GARD:16725,Active,Orphanet,ORPHA:79507,Disorder,[Disease],Hypotonia-failure to thrive-microcephaly syndrome,"[LTC4 synthase deficiency, Leukotriene C4 synthase deficiency]","Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.",[614037],,,,,,,, +GARD:16726,Active,Orphanet,ORPHA:79643,Disorder,[Disease],Autosomal recessive hyperinsulinism due to SUR1 deficiency,[Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency],"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.",[256450],,,,,,,, +GARD:16727,Active,Orphanet,ORPHA:79644,Disorder,[Disease],Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,[Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency],"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.",[601820],,,,,,,, +GARD:16728,Active,Orphanet,ORPHA:83454,Disorder,[Malformation syndrome],Glomuvenous malformation,"[Glomangiomatosis, Hereditary multiple glomangiomas, Multiple glomus tumors, VMGLOM, Venous malformations with glomus cells]","A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.",[138000],,,,,,,, +GARD:16729,Active,Orphanet,ORPHA:83620,Disorder,[Disease],Enteric anendocrinosis,[Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells],"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.",[610370],,,,,,,, +GARD:16730,Active,Orphanet,ORPHA:84081,Disorder,[Disease],Senior-Boichis syndrome,"[Boichis disease, Nephronophthisis-hepatic fibrosis syndrome]","A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.","[616217, 613550]",,,,,,,, +GARD:16731,Active,Orphanet,ORPHA:84093,Disorder,[Disease],Hereditary thermosensitive neuropathy,,"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.",[602107],,,,,,,, +GARD:16732,Active,Orphanet,ORPHA:84132,Disorder,[Disease],Desmin-related myopathy with Mallory body-like inclusions,[Early-onset desmin-related myopathy],,[602771],,,,,,,, +GARD:16733,Active,Orphanet,ORPHA:85112,Disorder,[Disease],Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,[Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome],"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.",[610644],,,,,,,, +GARD:16734,Active,Orphanet,ORPHA:85128,Disorder,[Disease],Bothnia retinal dystrophy,[Västerbotten dystrophy],"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.",[607475],,,,,,,, +GARD:16735,Active,Orphanet,ORPHA:85169,Disorder,[Malformation syndrome],Familial digital arthropathy-brachydactyly,,"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.",[606835],,,,,,,, +GARD:16736,Active,Orphanet,ORPHA:85172,Disorder,[Disease],"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).",[618150],,,,,,,, +GARD:16737,Active,Orphanet,ORPHA:85184,Disorder,[Malformation syndrome],"Craniometadiaphyseal dysplasia, wormian bone type",,"Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.",[269300],,,,,,,, +GARD:16738,Active,Orphanet,ORPHA:85188,Disorder,[Malformation syndrome],"Metaphyseal dysplasia, Braun-Tinschert type",,"Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.",[605946],,,,,,,, +GARD:16739,Active,Orphanet,ORPHA:85192,Disorder,[Malformation syndrome],Calvarial doughnut lesions-bone fragility syndrome,[Familial doughnut lesions of skull],"A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic clavarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.",[126550],,,,,,,, +GARD:1674,Legacy,GARD,,,,,,,,,,,,Davis Lafer syndrome,TRUE,FALSE,Retired +GARD:16740,Active,Orphanet,ORPHA:85194,Disorder,[Malformation syndrome],Spondylo-ocular syndrome,,"Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.",[605822],,,,,,,, +GARD:16741,Active,Orphanet,ORPHA:85197,Disorder,[Disease],Genochondromatosis type 1,,"Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.",[137360],,,,,,,, +GARD:16742,Active,Orphanet,ORPHA:85276,Disorder,[Malformation syndrome],"X-linked intellectual disability, Armfield type",[Armfield syndrome],"X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.",[300261],,,,,,,, +GARD:16743,Active,Orphanet,ORPHA:85277,Disorder,[Malformation syndrome],"X-linked intellectual disability, Cantagrel type",,"A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.",[300912],,,,,,,, +GARD:16744,Active,Orphanet,ORPHA:85279,Disorder,[Malformation syndrome],KDM5C-related syndromic X-linked intellectual disability,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.",[300534],,,,,,,, +GARD:16745,Active,Orphanet,ORPHA:85280,Disorder,[Malformation syndrome],X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,,"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.",[300471],,,,,,,, +GARD:16746,Active,Orphanet,ORPHA:85284,Disorder,[Malformation syndrome],BRESEK syndrome,[BRESHECK syndrome],"X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).",[308205],,,,,,,, +GARD:16747,Active,Orphanet,ORPHA:85290,Disorder,[Malformation syndrome],"X-linked intellectual disability, Wilson type",,"X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.",[309545],,,,,,,, +GARD:16748,Active,Orphanet,ORPHA:85294,Disorder,[Disease],X-linked epilepsy-learning disabilities-behavior disorders syndrome,,"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).",[300491],,,,,,,, +GARD:16749,Active,Orphanet,ORPHA:85295,Subtype of disorder,[Clinical subtype],"HSD10 disease, atypical type","[HSD10 deficiency, atypical type, Syndromic X-linked intellectual disability type 10, X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome]",,[300438],,,,,,,, +GARD:16750,Active,Orphanet,ORPHA:85321,Disorder,[Malformation syndrome],"Deafness-intellectual disability syndrome, Martin-Probst type","[Hearing loss-intellectual disability syndrome, Martin-Probst type, Martin-Probst syndrome, X-linked deafness-intellectual disability syndrome syndrome, X-linked hearing loss-intellectual disability syndrome syndrome]","A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.",[300519],,,,,,,, +GARD:16751,Active,Orphanet,ORPHA:85324,Disorder,[Malformation syndrome],"X-linked intellectual disability, Shrimpton type",[MRXS9],"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.",[300709],,,,,,,, +GARD:16752,Active,Orphanet,ORPHA:85329,Disorder,[Malformation syndrome],X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,,"A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.",[304340],,,,,,,, +GARD:16753,Active,Orphanet,ORPHA:85335,Disorder,[Malformation syndrome],Fried syndrome,,"Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.",[304340],,,,,,,, +GARD:16754,Active,Orphanet,ORPHA:85447,Disorder,[Disease],ATTRV30M amyloidosis,"[ATTRV30M-related amyloidosis, Familial amyloid polyneuropathy type I, Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type, TTR amyloid neuropathy, Transthyretin amyloid neuropathy, Transthyretin amyloid polyneuropathy]",Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.,[105210],,,,,,,, +GARD:16755,Active,Orphanet,ORPHA:85451,Disorder,[Disease],ATTRV122I amyloidosis,"[ATTR cardiomyopathy, ATTRV122I-related amyloidosis, TTR-related amyloid cardiomyopathy, TTR-related cardiac amyloidosis, Transthyretin amyloid cardiopathy, Transthyretin-related familial amyloid cardiomyopathy]",Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.,[105210],,,,,,,, +GARD:16756,Active,Orphanet,ORPHA:85453,Disorder,[Disease],X-linked reticulate pigmentary disorder,"[Familial cutaneous amyloidosis, PDR, Partington disease, X-linked cutaneous amyloidosis, XLPDR]","X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.",[301220],,,,,,,, +GARD:16757,Active,Orphanet,ORPHA:86813,Disorder,[Disease],Helicoid peripapillary chorioretinal degeneration,"[Atrophia areata, SCRA, Sveinsson chorioretinal atrophy]","Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.",[108985],,,,,,,, +GARD:16758,Active,Orphanet,ORPHA:86814,Disorder,[Disease],Benign adult familial myoclonic epilepsy,"[ADCME, Autosomal dominant cortical myoclonus and epilepsy, BAFME, Benign adult familial myoclonus epilepsy, FAME, FCMTE, Familial adult myoclonic epilepsy, Familial cortical myoclonic tremor and epilepsy]","Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","[613608, 615400, 607876, 601068, 615127]",,,,,,,, +GARD:16759,Active,Orphanet,ORPHA:86815,Disorder,[Disease],Aplasia of lacrimal and salivary glands,"[ALSG, Congenital absence of lacrimal puncta and salivary glands]","A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.",[180920],,,,,,,, +GARD:16760,Active,Orphanet,ORPHA:86817,Disorder,[Disease],Hemolytic anemia due to adenylate kinase deficiency,,Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.,[612631],,,,,,,, +GARD:16761,Active,Orphanet,ORPHA:86818,Disorder,[Disease],Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,"[AMME complex, AMME syndrome, ATS-MR]","A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.","[300194, 300990]",,,,,,,, +GARD:16762,Active,Orphanet,ORPHA:86819,Disorder,[Disease],Atrichia with papular lesions,[Papular atrichia],"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.",[209500],,,,,,,, +GARD:16763,Active,Orphanet,ORPHA:86822,Disorder,[Malformation syndrome],Lissencephaly type 3-metacarpal bone dysplasia syndrome,,"This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).",[601160],,,,,,,, +GARD:16764,Active,Orphanet,ORPHA:86830,Disorder,[Disease],"Chronic myeloproliferative disease, unclassifiable","[CMPD-U, Undifferentiated myeloproliferative disease]","Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.",[131440],,,,,,,, +GARD:16765,Active,Orphanet,ORPHA:86900,Disorder,[Disease],Interdigitating dendritic cell sarcoma,"[Interdigitating cell sarcoma, Reticulum cell sarcoma]","A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive.",[267730],,,,,,,, +GARD:16766,Active,Orphanet,ORPHA:86919,Disorder,[Disease],Keratosis palmaris et plantaris-clinodactyly syndrome,[Palmoplantar keratoderma-clinodactyly syndrome],"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.",[148520],,,,,,,, +GARD:16767,Active,Orphanet,ORPHA:86923,Disorder,[Disease],"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","[Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type, PPK, Gamborg-Nielsen type]","Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.",[244850],,,,,,,, +GARD:16768,Active,Orphanet,ORPHA:88629,Disorder,[Disease],Tritanopia,"[Blue colour blindness, Congenital tritanopia, Tritan colour blindness]",Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.,[190900],,,,,,,, +GARD:16769,Active,Orphanet,ORPHA:88630,Disorder,[Malformation syndrome],Terminal osseous dysplasia-pigmentary defects syndrome,,"Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.",[300244],,,,,,,, +GARD:16770,Active,Orphanet,ORPHA:88635,Disorder,[Disease],Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,"[Myopathy due to calsequestrin and SERCA1 protein overload, Vacuolar aggregate myopathy]","A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.",[616231],,,,,,,, +GARD:16771,Active,Orphanet,ORPHA:88637,Subtype of disorder,[Clinical subtype],Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,[4H syndrome],,"[614381, 616494, 607694]",,,,,,,, +GARD:16772,Active,Orphanet,ORPHA:88659,Disorder,[Disease],Autosomal dominant progressive nephropathy with hypertension,,"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.",[161900],,,,,,,, +GARD:16773,Active,Orphanet,ORPHA:88673,Group of disorders,[Clinical group],Hepatocellular carcinoma,[HCC],"Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.",[114550],,,,,,,, +GARD:16774,Active,Orphanet,ORPHA:88917,Subtype of disorder,[Clinical subtype],X-linked Alport syndrome,,,[301050],,,,,,,, +GARD:16775,Active,Orphanet,ORPHA:88938,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2A,[PHA2A],,[145260],,,,,,,, +GARD:16776,Active,Orphanet,ORPHA:88939,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2B,[PHA2B],,[614491],,,,,,,, +GARD:16777,Active,Orphanet,ORPHA:88940,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2C,[PHA2C],,[614492],,,,,,,, +GARD:16778,Active,Orphanet,ORPHA:89838,Disorder,[Disease],Autosomal recessive generalized epidermolysis bullosa simplex,[Autosomal recessive generalized EBS],"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.",[601001],,,,,,,, +GARD:16779,Active,Orphanet,ORPHA:89843,Disorder,[Disease],Dystrophic epidermolysis bullosa pruriginosa,"[DEB pruriginosa, DEB-Pr, Pruriginous dystrophic epidermolysis bullosa]","A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.",[604129],,,,,,,, +GARD:16780,Active,Orphanet,ORPHA:89844,Subtype of disorder,[Clinical subtype],"Lissencephaly syndrome, Norman-Roberts type",[Microlissencephaly type A],"Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.",[257320],,,,,,,, +GARD:16781,Active,Orphanet,ORPHA:89937,Disorder,[Disease],Autosomal dominant hypophosphatemic rickets,"[ADHR, Autosomal dominant hypophosphatemia]","A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.",[193100],,,,,,,, +GARD:16782,Active,Orphanet,ORPHA:90001,Disorder,[Disease],X-linked cone dysfunction syndrome with myopia,[Bornholm eye disease],X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.,[300843],,,,,,,, +GARD:16783,Active,Orphanet,ORPHA:90023,Disorder,[Disease],Primary immunodeficiency syndrome due to LAMTOR2 deficiency,"[Primary immunodeficiency syndrome due to p14 deficiency, Primary immunodeficiency syndrome with short stature]","Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.",[610798],,,,,,,, +GARD:16784,Active,Orphanet,ORPHA:90030,Disorder,[Disease],Hemolytic anemia due to glutathione reductase deficiency,,Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.,"[618660, 618667]",,,,,,,, +GARD:16785,Active,Orphanet,ORPHA:90044,Disorder,[Disease],Familial pseudohyperkalemia,,"Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.",[609153],,,,,,,, +GARD:16786,Active,Orphanet,ORPHA:90103,Disorder,[Malformation syndrome],Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,"[CMT-deafness-intellectual disability syndrome, Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome, Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers, Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers]","Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.",[214370],,,,,,,, +GARD:16787,Active,Orphanet,ORPHA:90120,Disorder,[Disease],Hereditary motor and sensory neuropathy type 6,"[CMT6, Charcot-Marie-Tooth disease type 6, HMSN 6, HMSN VI, Hereditary motor and sensory neuropathy type VI, Peripheral neuropathy and optic atrophy]","A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","[616505, 601152]",,,,,,,, +GARD:16788,Active,Orphanet,ORPHA:90308,Disorder,[Disease],Klippel-Trénaunay syndrome,,,[149000],,,,,,,, +GARD:16789,Active,Orphanet,ORPHA:90368,Disorder,[Disease],Hypotrichosis simplex of the scalp,[Hereditary hypotrichosis simplex of the scalp],Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.,"[146520, 613981]",,,,,,,, +GARD:16790,Active,Orphanet,ORPHA:90625,Subtype of disorder,[Etiological subtype],X-linked non-syndromic sensorineural deafness type DFN,"[X-linked isolated neurosensory deafness type DFN, X-linked isolated neurosensory hearing loss type DFN, X-linked isolated sensorineural deafness type DFN, X-linked isolated sensorineural hearing loss type DFN, X-linked non-syndromic neurosensory deafness type DFN, X-linked non-syndromic neurosensory hearing loss type DFN, X-linked non-syndromic sensorineural hearing loss type DFN]",,"[300030, 300066, 300914, 304500]",,,,,,,, +GARD:16791,Active,Orphanet,ORPHA:90635,Subtype of disorder,[Etiological subtype],Autosomal dominant non-syndromic sensorineural deafness type DFNA,"[Autosomal dominant isolated neurosensory deafness type DFNA, Autosomal dominant isolated neurosensory hearing loss type DFNA, Autosomal dominant isolated sensorineural deafness type DFNA, Autosomal dominant isolated sensorineural hearing loss type DFNA, Autosomal dominant non-syndromic neurosensory deafness type DFNA, Autosomal dominant non-syndromic neurosensory hearing loss type DFNA, Autosomal dominant non-syndromic sensorineural hearing loss type DFNA]",,"[603964, 614614, 619274, 607841, 618410, 606346, 617606, 616357, 608372, 607683, 616969, 614152, 616707, 615649, 601543, 609965, 602459, 608645, 618787, 613074, 616697, 617663, 601316, 608641, 601868, 606282, 601412, 615654, 619081, 607017, 618094, 612643, 614211, 606705, 606451, 600652, 618140, 608652, 615629, 600994, 617605, 605583, 606012, 612431, 608394, 616968, 601317, 609129, 601369, 618915, 607453, 601544, 604717, 600965, 600101, 603622, 616044, 619086, 605192, 607197, 612642, 613558, 612644, 618778, 616340, 608224]",,,,,,,, +GARD:16792,Active,Orphanet,ORPHA:90641,Subtype of disorder,[Etiological subtype],Mitochondrial non-syndromic sensorineural deafness,"[Isolated mitochondrial neurosensory deafness, Isolated mitochondrial neurosensory hearing loss, Isolated mitochondrial sensorineural deafness, Isolated mitochondrial sensorineural hearing loss, Mitochondrial non-syndromic neurosensory deafness, Mitochondrial non-syndromic neurosensory hearing loss, Mitochondrial non-syndromic sensorineural hearing loss]",,"[221745, 304400, 500008, 580000]",,,,,,,, +GARD:16793,Active,Orphanet,ORPHA:90673,Disorder,[Disease],Hypothyroidism due to TSH receptor mutations,,"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.",[275200],,,,,,,, +GARD:16794,Active,Orphanet,ORPHA:90796,Disorder,[Disease],"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.",[202110],,,,,,,, +GARD:16795,Active,Orphanet,ORPHA:91130,Disorder,[Disease],Cardiomyopathy-hypotonia-lactic acidosis syndrome,,"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.",[610773],,,,,,,, +GARD:16796,Active,Orphanet,ORPHA:91135,Disorder,[Disease],Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,"[PXE-like syndrome, Pseudoxanthoma elasticum-like syndrome]",Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.,[610842],,,,,,,, +GARD:16797,Active,Orphanet,ORPHA:91396,Disorder,[Morphological anomaly],Isolated cryptophthalmia,,"Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.",[123570],,,,,,,, +GARD:16798,Active,Orphanet,ORPHA:91411,Disorder,[Disease],Congenital ptosis,,Congenital ptosis is characterized by superior eyelid drop present at birth.,"[178300, 300245, 616219]",,,,,,,, +GARD:16799,Active,Orphanet,ORPHA:91416,Disorder,[Disease],Isolated congenital alacrima,,Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.,"[103420, 601549]",,,,,,,, +GARD:1680,Active,Orphanet,ORPHA:1570,Disorder,[Malformation syndrome],Symbrachydactyly of hands and feet,[De Smet-Fabry-Fryns syndrome],"Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.",,,,,,Frints De Smet Fabry Fryns syndrome,TRUE,FALSE,Active +GARD:16800,Active,Orphanet,ORPHA:91490,Disorder,[Morphological anomaly],Isolated congenital sclerocornea,,"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.",[181700],,,,,,,, +GARD:16801,Active,Orphanet,ORPHA:91492,Disorder,[Disease],Early-onset non-syndromic cataract,,"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","[609741, 116200, 116700, 605387, 615274, 604219, 610425, 611391, 116600, 610019, 611544, 607304, 616509, 115665, 610202, 615188, 610623, 616279, 115660, 116800, 614422, 212500, 613763, 115800, 605749, 605728, 601547, 115700, 115650, 604307, 116100, 616851, 600881, 302200, 609376, 615277, 611597, 115900, 116400, 601202, 601885, 614691, 116300]",,,,,,,, +GARD:16802,Active,Orphanet,ORPHA:91494,Disorder,[Malformation syndrome],Macular coloboma-cleft palate-hallux valgus syndrome,,"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.",[216800],,,,,,,, +GARD:16803,Active,Orphanet,ORPHA:91495,Disorder,[Disease],Persistent hyperplastic primary vitreous,"[Congenital retinal detachment, NCRNA disease, Non-syndromic congenital retinal non-attachment, PFVS, PHPV, Persistent fetal vasculature syndrome]","A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","[221900, 611308]",,,,,,,, +GARD:16804,Active,Orphanet,ORPHA:93100,Subtype of disorder,[Clinical subtype],"Renal agenesis, unilateral",,A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.,[617805],,,,,,,, +GARD:16805,Active,Orphanet,ORPHA:93160,Disorder,[Disease],Hypocalcemic vitamin D-resistant rickets,"[HVDRR, Hereditary vitamin D-resistant rickets, VDDR II, VDRR II, Vitamin D-dependent rickets type II, Vitamin D-resistant rickets type II]","Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.","[600785, 277440, 619073]",,,,,,,, +GARD:16806,Active,Orphanet,ORPHA:93256,Disorder,[Malformation syndrome],Fragile X-associated tremor/ataxia syndrome,[FXTAS syndrome],Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.,[300623],,,,,,,, +GARD:16807,Active,Orphanet,ORPHA:93258,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 1,[Classic Pfeiffer syndrome],,[101600],,,,,,,, +GARD:16808,Active,Orphanet,ORPHA:93259,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 2,,,[101600],,,,,,,, +GARD:16809,Active,Orphanet,ORPHA:93260,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 3,,,[101600],,,,,,,, +GARD:16810,Active,Orphanet,ORPHA:93262,Disorder,[Malformation syndrome],Crouzon syndrome-acanthosis nigricans syndrome,[Crouzon-dermoskeletal syndrome],"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).",[612247],,,,,,,, +GARD:16811,Active,Orphanet,ORPHA:93267,Disorder,[Malformation syndrome],Cloverleaf skull-multiple congenital anomalies syndrome,,"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.",[607161],,,,,,,, +GARD:16812,Active,Orphanet,ORPHA:93279,Disorder,[Disease],Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,,"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.",[604864],,,,,,,, +GARD:16813,Active,Orphanet,ORPHA:93282,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, PAPSS2 type","[Spondyloepimetaphyseal dysplasia, Pakistani type]","Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.",[612847],,,,,,,, +GARD:16814,Active,Orphanet,ORPHA:93283,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Kimberley type",,"Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.",[608361],,,,,,,, +GARD:16815,Active,Orphanet,ORPHA:93297,Subtype of disorder,[Clinical subtype],Hypochondrogenesis,,,[200610],,,,,,,, +GARD:16816,Active,Orphanet,ORPHA:93302,Disorder,[Malformation syndrome],"Brachyolmia, Maroteaux type",[Brachyolmia type 2],"A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.",[613678],,,,,,,, +GARD:16817,Active,Orphanet,ORPHA:93334,Disorder,[Morphological anomaly],Postaxial polydactyly type A,,"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","[608562, 615226, 263450, 618219, 174200, 602085, 618498, 607324]",,,,,,,, +GARD:16818,Active,Orphanet,ORPHA:93335,Disorder,[Morphological anomaly],Postaxial polydactyly type B,,"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.",[174200],,,,,,,, +GARD:16819,Active,Orphanet,ORPHA:93351,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Irapa type","[SEMD, Irapa type]","Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.",[271650],,,,,,,, +GARD:16820,Active,Orphanet,ORPHA:93398,Disorder,[Disease],Genochondromatosis type 2,,"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.",[137360],,,,,,,, +GARD:16821,Active,Orphanet,ORPHA:93409,Disorder,[Malformation syndrome],"Brachydactyly-syndactyly, Zhao type",,"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.",[610713],,,,,,,, +GARD:16822,Active,Orphanet,ORPHA:93426,Group of disorders,[Category],Ciliopathies with major skeletal involvement,"[SRP, Short rib dysplasia]",,[617405],,,,,,,, +GARD:16823,Active,Orphanet,ORPHA:93581,Subtype of disorder,[Etiological subtype],Atypical hemolytic uremic syndrome with anti-factor H antibodies,"[Atypical HUS with anti-factor H antibodies, aHUS with anti-factor H antibodies, aHUS with neutralizing autoantibodies against factor H]",,[235400],,,,,,,, +GARD:16824,Active,Orphanet,ORPHA:93589,Subtype of disorder,[Clinical subtype],Late-onset nephronophthisis,,,"[617271, 613159, 604387]",,,,,,,, +GARD:16825,Active,Orphanet,ORPHA:93591,Subtype of disorder,[Clinical subtype],Infantile nephronophthisis,"[Autosomal recessive infantile NPHP, Autosomal recessive infantile nephronophthisis]","A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.","[615382, 602088]",,,,,,,, +GARD:16826,Active,Orphanet,ORPHA:93607,Subtype of disorder,[Clinical subtype],Autosomal recessive proximal renal tubular acidosis,"[AR pRTA, Proximal renal tubular acidosis with ocular abnormalities and intellectual disability]","A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.",[604278],,,,,,,, +GARD:16827,Active,Orphanet,ORPHA:93612,Subtype of disorder,[Etiological subtype],Cystinuria type A,,,[220100],,,,,,,, +GARD:16828,Active,Orphanet,ORPHA:93613,Subtype of disorder,[Etiological subtype],Cystinuria type B,,,[220100],,,,,,,, +GARD:16829,Active,Orphanet,ORPHA:93616,Subtype of disorder,[Clinical subtype],Hemoglobin H disease,"[Alpha-thalassemia intermedia, HbH disease]",An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia.,[613978],,,,,,,, +GARD:16830,Active,Orphanet,ORPHA:93924,Subtype of disorder,[Clinical subtype],Lobar holoprosencephaly,,"A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.","[609637, 610829, 157170]",,,,,,,, +GARD:16831,Active,Orphanet,ORPHA:93925,Subtype of disorder,[Clinical subtype],Alobar holoprosencephaly,,"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","[609637, 301043, 610829, 157170]",,,,,,,, +GARD:16832,Active,Orphanet,ORPHA:93926,Subtype of disorder,[Clinical subtype],Midline interhemispheric variant of holoprosencephaly,"[MIH, MIH type HPE, MIHF, MIHV, Middle interhemispheric fusion variant, Middle interhemispheric variant of holoprosencephaly, Syntelencephaly]","Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.","[609637, 610829, 157170]",,,,,,,, +GARD:16833,Active,Orphanet,ORPHA:93940,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 3,"[LTEC III, LTEC3, Laryngo-tracheo-esophageal cleft type 3]","A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.",[215800],,,,,,,, +GARD:16834,Active,Orphanet,ORPHA:93952,Disorder,[Disease],"X-linked intellectual disability, Hedera type",[MRXSH],"X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.",[300423],,,,,,,, +GARD:16835,Active,Orphanet,ORPHA:93976,Disorder,[Morphological anomaly],Anotia,,"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.",[600674],,,,,,,, +GARD:16836,Active,Orphanet,ORPHA:94122,Disorder,[Disease],"Cerebellar ataxia, Cayman type",[Cayman ataxia],"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.",[601238],,,,,,,, +GARD:16837,Active,Orphanet,ORPHA:94150,Subtype of disorder,[Clinical subtype],Anonychia congenita totalis,,,[206800],,,,,,,, +GARD:16838,Active,Orphanet,ORPHA:95232,Disorder,[Disease],Lissencephaly due to LIS1 mutation,[PAFAH1B1-related lissencephaly],"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.",[607432],,,,,,,, +GARD:16839,Active,Orphanet,ORPHA:95700,Disorder,[Disease],Familial adrenal hypoplasia with absent pituitary luteinizing hormone,"[Familial adrenal hypoplasia with absent pituitary LH, Familial adrenal hypoplasia, miniature type]","Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.",[202150],,,,,,,, +GARD:1684,Active,Orphanet,ORPHA:3232,Disorder,[Malformation syndrome],Deafness-ear malformation-facial palsy syndrome,"[Hearing loss-ear malformation-facial palsy syndrome, Sellars-Beighton syndrome]",Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.,[124490],,,,,Deafness conductive stapedial ear malformation facial palsy,TRUE,FALSE,Active +GARD:16840,Active,Orphanet,ORPHA:95706,Disorder,[Morphological anomaly],Non-syndromic posterior hypospadias,"[Hypospadias, severe form, Perineal, scrotal or penoscrotal hypospadias]","A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","[300633, 146450, 300856, 300758]",,,,,,,, +GARD:16841,Active,Orphanet,ORPHA:95712,Disorder,[Morphological anomaly],Thyroid ectopia,,"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,,,, +GARD:16842,Active,Orphanet,ORPHA:95713,Disorder,[Morphological anomaly],Athyreosis,,"A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,,,, +GARD:16843,Active,Orphanet,ORPHA:95716,Disorder,[Disease],Familial thyroid dyshormonogenesis,[Thyroid dyshormonogenesis],"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.","[274800, 274900, 274700, 274500, 607200, 274400]",,,,,,,, +GARD:16844,Active,Orphanet,ORPHA:95719,Disorder,[Morphological anomaly],Thyroid hemiagenesis,,"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.",[218700],,,,,,,, +GARD:16845,Active,Orphanet,ORPHA:96125,Disorder,[Malformation syndrome],Distal monosomy 6p,"[6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, Distal deletion 6p, Monosomy 6p25]","Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.",[612582],,,,,,,, +GARD:16846,Active,Orphanet,ORPHA:96147,Subtype of disorder,[Etiological subtype],Kleefstra syndrome due to 9q34 microdeletion,"[9q subtelomeric deletion syndrome, 9qSTDS, Kleefstra syndrome due to 9q subtelomeric deletion, Kleefstra syndrome due to del(9)(q34), Kleefstra syndrome due to monosomy 9q34]",,[610253],,,,,,,, +GARD:16847,Active,Orphanet,ORPHA:96168,Disorder,[Malformation syndrome],Monosomy 13q34,"[Del(13)(q34), Distal deletion 13q34, Subtelomeric deletion 13q34]","Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.",[619148],,,,,,,, +GARD:16848,Active,Orphanet,ORPHA:96184,Subtype of disorder,[Etiological subtype],Temple syndrome due to maternal uniparental disomy of chromosome 14,[UPD(14)mat],"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).",[616222],,,,,,,, +GARD:16849,Active,Orphanet,ORPHA:96186,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 20,"[Maternal UPD(20), UPD(20)mat]","Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.",[617352],,,,,,,, +GARD:1685,Active,Orphanet,ORPHA:79500,Disorder,[Malformation syndrome],DOORS syndrome,"[Autosomal recessive deafness-onychodystrophy syndrome, Autosomal recessive hearing loss-onychodystrophy syndrome, DOOR syndrome, Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome, Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, Deafness-onychoosteodystrophy-intellectual disability syndrome, Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome, Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, Hearing loss-onychoosteodystrophy-intellectual disability syndrome]","A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.",[220500],,,,,DOOR syndrome,TRUE,FALSE,Active +GARD:16850,Active,Orphanet,ORPHA:96256,Group of disorders,[Clinical group],Somatotropic adenoma,[Somatotropinoma],,[102200],,,,,,,, +GARD:16851,Active,Orphanet,ORPHA:96265,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to complete LH resistance,"[46,XY DSD due to complete LH receptor inactivation, 46,XY DSD due to complete LH resistance, 46,XY DSD due to complete luteinizing hormone receptor inactivation, 46,XY DSD due to complete luteinizing hormone resistance, 46,XY disorder of sex development due to complete LH receptor inactivation, 46,XY disorder of sex development due to complete LH resistance, 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation, 46,XY disorder of sex development due to complete luteinizing hormone resistance, Leydig cell hypoplasia due to complete LH receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone resistance]",,[238320],,,,,,,, +GARD:16852,Active,Orphanet,ORPHA:96266,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to partial LH resistance,"[46,XY DSD due to partial LH receptor inactivation, 46,XY DSD due to partial LH resistance, 46,XY DSD due to partial luteinizing hormone resistance, 46,XY disorder of sex developement due to partial LH receptor inactivation, 46,XY disorder of sex developement due to partial LH resistance, 46,XY disorder of sex developement due to partial luteinizing hormone resistance, Leydig cell hypoplasia due to partial LH receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone resistance]",,[238320],,,,,,,, +GARD:16853,Active,Orphanet,ORPHA:97290,Disorder,[Disease],Familial papillary thyroid carcinoma with renal papillary neoplasia,[PTC-RCC],An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group.,[605642],,,,,,,, +GARD:16854,Active,Orphanet,ORPHA:97369,Subtype of disorder,[Etiological subtype],Renal tubular dysgenesis of genetic origin,,,[267430],,,,,,,, +GARD:16855,Active,Orphanet,ORPHA:98291,Group of disorders,[Category],Lymphoproliferative disease associated with primary immune disease,,,[619126],,,,,,,, +GARD:16856,Active,Orphanet,ORPHA:98434,Disorder,[Disease],Hereditary combined deficiency of vitamin K-dependent clotting factors,"[Hereditary combined deficiency of factors II, VII, IX and X]","Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.","[277450, 607473]",,,,,,,, +GARD:16857,Active,Orphanet,ORPHA:98553,Group of disorders,[Category],Developmental defect of the eye,,,"[216820, 120200]",,,,,,,, +GARD:16858,Active,Orphanet,ORPHA:98606,Disorder,[Malformation syndrome],Syndromic orbital border hypoplasia,[Urrets-Zavalia syndrome],"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.",[165600],,,,,,,, +GARD:16859,Active,Orphanet,ORPHA:98619,Disorder,[Disease],Rare isolated myopia,,"Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.","[608908, 615431, 614292]",,,,,,,, +GARD:1686,Active,Orphanet,ORPHA:3241,Disorder,[Malformation syndrome],Deafness-craniofacial syndrome,[Hearing loss-craniofacial syndrome],"Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.",[125230],,,,,Deafness craniofacial syndrome,TRUE,FALSE,Active +GARD:16860,Active,Orphanet,ORPHA:98676,Disorder,[Disease],Autosomal recessive isolated optic atrophy,[Autosomal recessive non-syndromic optic atrophy],"A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.","[617302, 258500, 616289, 616732]",,,,,,,, +GARD:16861,Active,Orphanet,ORPHA:98754,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,[UPD(15)mat],,[176270],,,,,,,, +GARD:16862,Active,Orphanet,ORPHA:98791,Disorder,[Malformation syndrome],Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"[ATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 syndrome, Alpha thalassemia-intellectual disability syndrome, deletion type]","A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.",[141750],,,,,,,, +GARD:16863,Active,Orphanet,ORPHA:98835,Disorder,[Disease],Acute undifferentiated leukemia,"[Acute myeloid leukemia, minimal differentiation, FAB M0]","A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).",[601626],,,,,,,, +GARD:16864,Active,Orphanet,ORPHA:98852,Disorder,[Disease],Desquamative interstitial pneumonia,,"A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance.",[263000],,,,,,,, +GARD:16865,Active,Orphanet,ORPHA:98853,Subtype of disorder,[Etiological subtype],Autosomal dominant Emery-Dreifuss muscular dystrophy,[EDMD2],,"[612998, 612999, 181350, 614302]",,,,,,,, +GARD:16866,Active,Orphanet,ORPHA:98855,Subtype of disorder,[Etiological subtype],Autosomal recessive Emery-Dreifuss muscular dystrophy,[EDMD3],,[616516],,,,,,,, +GARD:16867,Active,Orphanet,ORPHA:98868,Disorder,[Disease],Southeast Asian ovalocytosis,"[Hereditary ovalocytosis, Melanesian elliptocytosis, Melanesian ovalocytosis, SAO, Stomatocytic elliptocytosis]","Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.",[166900],,,,,,,, +GARD:16868,Active,Orphanet,ORPHA:98886,Subtype of disorder,[Etiological subtype],Bleeding diathesis due to integrin alpha2-beta1 deficiency,,,[614200],,,,,,,, +GARD:16869,Active,Orphanet,ORPHA:98904,Disorder,[Disease],Congenital myopathy with excess of thin filaments,[Actin myopathy],"A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.",[161800],,,,,,,, +GARD:1687,Active,Orphanet,ORPHA:3220,Disorder,[Malformation syndrome],Deafness-enamel hypoplasia-nail defects syndrome,"[Hearing loss-enamel hypoplasia-nail defects syndrome, Heimler syndrome]","A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.","[616617, 234580]",,,,,Deafness enamel hypoplasia nail defects,TRUE,FALSE,Active +GARD:16870,Active,Orphanet,ORPHA:98909,Disorder,[Disease],Desminopathy,[Desmin-related myofibrillar myopathy],"A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.",[601419],,,,,,,, +GARD:16871,Active,Orphanet,ORPHA:98911,Disorder,[Disease],Distal myotilinopathy,,"A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.",[609200],,,,,,,, +GARD:16872,Active,Orphanet,ORPHA:98915,Subtype of disorder,[Etiological subtype],Synaptic congenital myasthenic syndromes,,,[603034],,,,,,,, +GARD:16873,Active,Orphanet,ORPHA:98916,Disorder,[Disease],Acute inflammatory demyelinating polyradiculoneuropathy,"[AIDP, Acute idiopathic demyelinating polyneuropathy, Acute inflammatory polyneuropathy, GBS, acute inflammatory demyelinating polyradiculoneuropathic form, Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form]",A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).,[139393],,,,,,,, +GARD:16874,Active,Orphanet,ORPHA:98934,Disorder,[Disease],Huntington disease-like 2,[HDL2],"A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).",[606438],,,,,,,, +GARD:16875,Active,Orphanet,ORPHA:98942,Disorder,[Morphological anomaly],Coloboma of choroid and retina,,"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.",[120200],,,,,,,, +GARD:16876,Active,Orphanet,ORPHA:98949,Subtype of disorder,[Clinical subtype],Complete cryptophthalmia,,,[123570],,,,,,,, +GARD:16877,Active,Orphanet,ORPHA:98955,Disorder,[Disease],Lisch epithelial corneal dystrophy,"[Band-shaped and whorled microcystic dystrophy of the corneal epithelium, LECD]","Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.",[300778],,,,,,,, +GARD:16878,Active,Orphanet,ORPHA:98959,Disorder,[Disease],Subepithelial mucinous corneal dystrophy,[SMCD],"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.",[612867],,,,,,,, +GARD:16879,Active,Orphanet,ORPHA:98970,Disorder,[Disease],Fleck corneal dystrophy,"[FCD, François-Neetens speckled corneal dystrophy]","Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.",[121850],,,,,,,, +GARD:1688,Active,Orphanet,ORPHA:3218,Disorder,[Malformation syndrome],Deafness-epiphyseal dysplasia-short stature syndrome,"[Chitty-Hall-Baraitser syndrome, Hearing loss-epiphyseal dysplasia-short stature syndrome]","A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.",[601351],,,,,"Deafness, epiphyseal dysplasia, short stature",TRUE,FALSE,Active +GARD:16880,Active,Orphanet,ORPHA:98971,Disorder,[Disease],Posterior amorphous corneal dystrophy,"[PACD, Posterior amorphous stromal dystrophy]",Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.,[612868],,,,,,,, +GARD:16881,Active,Orphanet,ORPHA:98972,Disorder,[Disease],Central cloudy dystrophy of François,"[CCDF, Central cloudy corneal dystrophy of François]","Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.",[217600],,,,,,,, +GARD:16882,Active,Orphanet,ORPHA:98973,Disorder,[Disease],Posterior polymorphous corneal dystrophy,"[PPCD, Posterior polymorphous dystrophy, Schlichting dystrophy]","A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","[618031, 609140, 122000, 609141]",,,,,,,, +GARD:16883,Active,Orphanet,ORPHA:98977,Disorder,[Disease],Juvenile glaucoma,,"A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","[611274, 137750, 231300, 608695, 610535, 608696]",,,,,,,, +GARD:16884,Active,Orphanet,ORPHA:98984,Subtype of disorder,[Clinical subtype],Pulverulent cataract,"[Coppock-like cataract, Dusty cataract]",,[116300],,,,,,,, +GARD:16885,Active,Orphanet,ORPHA:98985,Subtype of disorder,[Clinical subtype],Early-onset sutural cataract,[Early-onset cataract with Y-shaped suture opacities],,"[605728, 116100, 600881]",,,,,,,, +GARD:16886,Active,Orphanet,ORPHA:98990,Subtype of disorder,[Clinical subtype],Coralliform cataract,,,[115800],,,,,,,, +GARD:16887,Active,Orphanet,ORPHA:98991,Subtype of disorder,[Clinical subtype],Early-onset nuclear cataract,,,"[609376, 116400, 611391, 610019, 607304, 600881]",,,,,,,, +GARD:16888,Active,Orphanet,ORPHA:98992,Subtype of disorder,[Clinical subtype],Early-onset partial cataract,,,"[613763, 609376, 115800, 605728, 115660, 116400, 601202, 610019, 607304, 614422, 116300]",,,,,,,, +GARD:16889,Active,Orphanet,ORPHA:98993,Subtype of disorder,[Clinical subtype],Early-onset posterior polar cataract,,,"[613763, 600881]",,,,,,,, +GARD:1689,Legacy,GARD,,,,,,,,,,,,Deafness goiter stippled epiphyses,TRUE,FALSE,Active +GARD:16890,Active,Orphanet,ORPHA:99001,Disorder,[Disease],Butterfly-shaped pigment dystrophy,"[Butterfly-shaped pattern dystrophy, Butterfly-shaped pigmentary macular dystrophy]",A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.,"[169150, 608970, 610125]",,,,,,,, +GARD:16891,Active,Orphanet,ORPHA:99002,Disorder,[Disease],Reticular dystrophy of the retinal pigment epithelium,,"A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.","[267800, 179840, 617175]",,,,,,,, +GARD:16892,Active,Orphanet,ORPHA:99051,Subtype of disorder,[Clinical subtype],Discrete fixed membranous subaortic stenosis,,,[271950],,,,,,,, +GARD:16893,Active,Orphanet,ORPHA:99067,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect with ventricular hypoplasia,"[CAVC with ventricular hypoplasia, Complete AVSD with ventricular hypoplasia, Complete atrioventricular canal defect with ventricular hypoplasia, Complete atrioventricular septal defect with ventricular imbalance, Unbalanced complete atrioventricular canal]",,[615779],,,,,,,, +GARD:16894,Active,Orphanet,ORPHA:99068,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect-tetralogy of Fallot,"[CAVC-tetralogy of Fallot, Complete AVSD-tetralogy of Fallot, Complete atrioventricular canal defect-tetralogy of Fallot]",,[615779],,,,,,,, +GARD:16895,Active,Orphanet,ORPHA:99092,Disorder,[Morphological anomaly],Interventricular septum aneurysm,,"Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.",[105805],,,,,,,, +GARD:16896,Active,Orphanet,ORPHA:99125,Disorder,[Morphological anomaly],Congenital total pulmonary venous return anomaly,,"A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.",[106700],,,,,,,, +GARD:16897,Active,Orphanet,ORPHA:99135,Disorder,[Disease],6-phosphogluconate dehydrogenase deficiency,,"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.",[619199],,,,,,,, +GARD:16898,Active,Orphanet,ORPHA:99141,Disorder,[Malformation syndrome],Lymphedema-posterior choanal atresia syndrome,,"A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.",[613611],,,,,,,, +GARD:16899,Active,Orphanet,ORPHA:99177,Disorder,[Morphological anomaly],Isolated distichiasis,,"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.",[126300],,,,,,,, +GARD:169,Active,Orphanet,ORPHA:3144,Disorder,[Malformation syndrome],Schneckenbecken dysplasia,"[Chondrodysplasia with snail-like pelvis, SLC35D1-CDG]",Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.,[269250],,,,,Schneckenbecken dysplasia,TRUE,FALSE,Active +GARD:1690,Legacy,GARD,,,,,,,,,,,,Deafness hyperuricemia neurologic ataxia,TRUE,FALSE,Retired +GARD:16900,Active,Orphanet,ORPHA:99179,Disorder,[Malformation syndrome],Kandori fleck retina,,"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.",[228990],,,,,,,, +GARD:16901,Active,Orphanet,ORPHA:99361,Disorder,[Disease],Familial medullary thyroid carcinoma,[Familial MTC],,[155240],,,,,,,, +GARD:16902,Active,Orphanet,ORPHA:99646,Disorder,[Disease],Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,,"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.",[614875],,,,,,,, +GARD:16903,Active,Orphanet,ORPHA:99672,Disorder,[Malformation syndrome],Fried's tooth and nail syndrome,,"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.",[602401],,,,,,,, +GARD:16904,Active,Orphanet,ORPHA:99734,Disorder,[Disease],Myotonia fluctuans,"[Exercise-induced delayed-onset myotonia, Fluctuating myotonia]","A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.",[608390],,,,,,,, +GARD:16905,Active,Orphanet,ORPHA:99735,Disorder,[Disease],Myotonia permanens,,"A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).",[608390],,,,,,,, +GARD:16906,Active,Orphanet,ORPHA:99736,Disorder,[Disease],Acetazolamide-responsive myotonia,"[ACZ-responsive congenital myotonia, ACZ-responsive myotonia, Acetazolamide-responsive congenital myotonia, Myotonia-painful contractions syndrome, Painful congenital myotonia, Painful myotonia]",A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).,[608390],,,,,,,, +GARD:16907,Active,Orphanet,ORPHA:99772,Disorder,[Morphological anomaly],Cleft velum,"[Cleft soft palate, Cleft velum palatinum]",Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.,[119570],,,,,,,, +GARD:16908,Active,Orphanet,ORPHA:99798,Disorder,[Morphological anomaly],Oligodontia,[Selective tooth agenesis],Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.,"[106600, 610926, 604625, 150400, 313500, 616724, 617073]",,,,,,,, +GARD:16909,Active,Orphanet,ORPHA:99803,Disorder,[Malformation syndrome],Haddad syndrome,"[Congenital central alveolar hypoventilation-Hirschsprung disease syndrome, Ondine-Hirschsprung disease, Ondine-Hirschsprung syndrome]","Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).",[209880],,,,,,,, +GARD:1691,Active,Orphanet,ORPHA:90646,Disorder,[Malformation syndrome],Deafness-hypogonadism syndrome,[Hearing loss-hypogonadism syndrome],"This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.",[304350],,,,,Deafness hypogonadism syndrome,TRUE,FALSE,Active +GARD:16910,Active,Orphanet,ORPHA:99806,Disorder,[Malformation syndrome],Oculootodental syndrome,[OOD],"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.",[166750],,,,,,,, +GARD:16911,Active,Orphanet,ORPHA:99807,Disorder,[Disease],PEHO-like syndrome,,"PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.","[260565, 617507]",,,,,,,, +GARD:16912,Active,Orphanet,ORPHA:99818,Subtype of disorder,[Clinical subtype],Turcot syndrome with polyposis,,"Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.",[175100],,,,,,,, +GARD:16913,Active,Orphanet,ORPHA:99819,Disorder,[Disease],Familial gestational hyperthyroidism,,"A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.",[603373],,,,,,,, +GARD:16914,Active,Orphanet,ORPHA:99832,Disorder,[Disease],Resistance to thyrotropin-releasing hormone syndrome,"[Central hypothyroidism due to TRH receptor deficiency, TRH resistance syndrome]",Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.,[618573],,,,,,,, +GARD:16915,Active,Orphanet,ORPHA:99844,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type III,"[LAD-1 variant, LAD-III, Leukocyte adhesion deficiency-1 variant]",Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.,[612840],,,,,,,, +GARD:16916,Active,Orphanet,ORPHA:99845,Disorder,[Disease],Genetic recurrent myoglobinuria,,Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.,"[550500, 268200]",,,,,,,, +GARD:16917,Active,Orphanet,ORPHA:99846,Disorder,[Disease],Autosomal dominant myoglobinuria,,"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.",[160010],,,,,,,, +GARD:16918,Active,Orphanet,ORPHA:99853,Subtype of disorder,[Clinical subtype],Ovarioleukodystrophy,,,"[603896, 615889]",,,,,,,, +GARD:16919,Active,Orphanet,ORPHA:99854,Subtype of disorder,[Clinical subtype],Cree leukoencephalopathy,,,[603896],,,,,,,, +GARD:1692,Legacy,GARD,,,,,,,,,,,,Deafness hypospadias metacarpal and metatarsal syndrome,TRUE,FALSE,Active +GARD:16920,Active,Orphanet,ORPHA:99860,Disorder,[Disease],Precursor B-cell acute lymphoblastic leukemia,"[B-ALL, Precursor B-cell acute lymphoblastic leukemia/lymphoma, Precursor B-cell acute lymphocytic leukemia, Precursor B-cell acute lymphocytic leukemia/lymphoma]","A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias.",[615545],,,,,,,, +GARD:16921,Active,Orphanet,ORPHA:99865,Disorder,[Disease],Spermatocytic seminoma,,Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.,[273300],,,,,,,, +GARD:16922,Active,Orphanet,ORPHA:99867,Disorder,[Disease],Thymoma,"[Primary thymic epithelial neoplasm, Primary thymic epithelial tumor]","Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.",[274230],,,,,,,, +GARD:16923,Active,Orphanet,ORPHA:99879,Disorder,[Disease],Familial isolated hyperparathyroidism,[FIHPT],"A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.","[617343, 618883, 145000, 600166, 610071]",,,,,,,, +GARD:16924,Active,Orphanet,ORPHA:99908,Disorder,[Disease],Pigeon-breeder lung disease,[Bird fancier lung],"Pigeon-breeder's lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.",[145300],,,,,,,, +GARD:16925,Active,Orphanet,ORPHA:99947,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2A2,[CMT2A2],"A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.",[609260],,,,,,,, +GARD:16926,Active,Orphanet,ORPHA:99966,Subtype of disorder,[Clinical subtype],Atypical teratoid rhabdoid tumor,[ATRT],"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.",[609322],,,,,,,, +GARD:16927,Active,Orphanet,ORPHA:99976,Disorder,[Disease],Adenocarcinoma of the esophagus,[Esophageal adenocarcinoma],Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.,[614266],,,,,,,, +GARD:16928,Active,Orphanet,ORPHA:99995,Subtype of disorder,[Clinical subtype],Complex regional pain syndrome type 1,"[Algodystrophy, Reflex sympathetic dystrophy]","Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.",[604335],,,,,,,, +GARD:16929,Active,Orphanet,ORPHA:100006,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Dutch type","[ABetaE22Q amyloidosis, HCHWA, Dutch type, HCHWA-D, Hereditary cerebral hemorrhage with amyloidosis, Dutch type]","Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.",[605714],,,,,,,, +GARD:1693,Legacy,GARD,,,,,,,,,,,,Deafness mesenteric diverticula of small bowel neuropathy,TRUE,FALSE,Active +GARD:16930,Active,Orphanet,ORPHA:100008,Subtype of disorder,[Clinical subtype],ACys amyloidosis,"[CST3-related amyloidosis, Cystatin amyloidosis, HCHWA, Icelandic type, Hereditary cerebral hemorrhage with amyloidosis, Icelandic type, Hereditary cystatin C amyloid angiopathy]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.",[105150],,,,,,,, +GARD:16931,Active,Orphanet,ORPHA:100032,Subtype of disorder,[Clinical subtype],Hypocalcified amelogenesis imperfecta,[Amelogenesis imperfecta type 3],,"[616221, 617607, 130900]",,,,,,,, +GARD:16932,Active,Orphanet,ORPHA:100034,Subtype of disorder,[Clinical subtype],Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,[Amelogenesis imperfecta type 4],,[104510],,,,,,,, +GARD:16933,Active,Orphanet,ORPHA:100050,Subtype of disorder,[Etiological subtype],Hereditary angioedema type 1,"[HAE 1, HAE-I, Hereditary angioneurotic edema type 1]","A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[106100],,,,,,,, +GARD:16934,Active,Orphanet,ORPHA:100051,Subtype of disorder,[Etiological subtype],Hereditary angioedema type 2,"[HAE 2, HAE-II, Hereditary angioneurotic edema type 2]","Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[106100],,,,,,,, +GARD:16935,Active,Orphanet,ORPHA:100054,Subtype of disorder,[Clinical subtype],F12-related hereditary angioedema with normal C1Inh,"[F12-related HAE with normal C1 inhibitor, HAE 3, HAE-III, Hereditary angioedema type 3, Hereditary angioneurotic edema type 3, Inherited estrogen-associated angioedema, Inherited estrogen-associated angioneurotic edema, Inherited estrogen-dependent angioedema, Inherited estrogen-dependent angioneurotic edema]","Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[610618],,,,,,,, +GARD:16936,Active,Orphanet,ORPHA:100057,Disorder,[Disease],Renin-angiotensin-aldosterone system-blocker-induced angioedema,"[ACE inhibitor-related acquired angioedema, ACEI-related acquired angioedema, Acquired angioedema with normal C1 inhibitor, Acquired angioedema with normal C1INH, RAAS-blocker-induced angioedema, RAAS-blocker-induced angioneurotic edema, RAE, Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema]","Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[300909],,,,,,,, +GARD:16937,Active,Orphanet,ORPHA:100924,Disorder,[Disease],Porphyria due to ALA dehydratase deficiency,"[ALAD porphyria, Porphyria due to ALAD deficiency, Porphyria due to delta-aminolevulinate dehydratase deficiency, Porphyria of Doss]",Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.,[612740],,,,,,,, +GARD:16938,Active,Orphanet,ORPHA:100976,Disorder,[Disease],Bathing suit ichthyosis,[BSI],Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.,[242300],,,,,,,, +GARD:16939,Active,Orphanet,ORPHA:101001,Disorder,[Disease],Autosomal recessive spastic paraplegia type 21,"[Mast syndrome, SPG21]","Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.",[248900],,,,,,,, +GARD:1694,Legacy,GARD,,,,,,,,,,,,"Deafness mixed with perilymphatic Gusher, X-linked",TRUE,FALSE,Active +GARD:16940,Active,Orphanet,ORPHA:101007,Disorder,[Disease],Autosomal recessive spastic paraplegia type 27,[SPG27],"Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.",[609041],,,,,,,, +GARD:16941,Active,Orphanet,ORPHA:101008,Disorder,[Disease],Autosomal recessive spastic paraplegia type 28,[SPG28],"Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.",[609340],,,,,,,, +GARD:16942,Active,Orphanet,ORPHA:101010,Disorder,[Disease],Autosomal spastic paraplegia type 30,[SPG30],"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.",[610357],,,,,,,, +GARD:16943,Active,Orphanet,ORPHA:101068,Disorder,[Disease],Congenital stromal corneal dystrophy,"[CSCD, Congenital hereditary stromal dystrophy, Witschel dystrophy]","Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.",[610048],,,,,,,, +GARD:16944,Active,Orphanet,ORPHA:101351,Disorder,[Morphological anomaly],Familial isolated congenital asplenia,,"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.",[271400],,,,,,,, +GARD:16945,Active,Orphanet,ORPHA:103908,Disorder,[Disease],Congenital sodium diarrhea,"[Na-H exchange deficiency, Non-syndromic congenital sodium diarrhea]","A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","[270420, 616868]",,,,,,,, +GARD:16946,Active,Orphanet,ORPHA:103918,Disorder,[Disease],Tropical pancreatitis,"[TCP, Tropical calcific chronic pancreatitis]","A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.",[608189],,,,,,,, +GARD:16947,Active,Orphanet,ORPHA:137631,Disorder,[Disease],"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.",[611926],,,,,,,, +GARD:16948,Active,Orphanet,ORPHA:137639,Subtype of disorder,[Clinical subtype],Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,[Ataxia-delayed dentition-hypomyelination syndrome],,[607694],,,,,,,, +GARD:16949,Active,Orphanet,ORPHA:137681,Disorder,[Disease],Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,[Hepatoencephalopathy due to COXPD1],"A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.",[609060],,,,,,,, +GARD:1695,Active,Orphanet,ORPHA:2408,Disorder,[Malformation syndrome],Lowe-Kohn-Cohen syndrome,"[Deafness-nephritis-ano-rectal malformation syndrome, Hearing loss-nephritis-ano-rectal malformation syndrome]","Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.",,,,,,Deafness nephritis anorectal malformation,TRUE,FALSE,Active +GARD:16950,Active,Orphanet,ORPHA:137908,Disorder,[Disease],Hypotonia with lactic acidemia and hyperammonemia,"[COXPD5, Combined oxidative phosphorylation defect type 5]","This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.",[611719],,,,,,,, +GARD:16951,Active,Orphanet,ORPHA:137914,Disorder,[Morphological anomaly],Choanal atresia,,"Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.",[608911],,,,,,,, +GARD:16952,Active,Orphanet,ORPHA:139474,Disorder,[Malformation syndrome],17q11.2 microduplication syndrome,"[Dup(17)(q11.2), Grisart-Destrée syndrome, Trisomy 17q11.2]",17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.,[618874],,,,,,,, +GARD:16953,Active,Orphanet,ORPHA:139518,Disorder,[Disease],Distal hereditary motor neuropathy type 1,"[Autosomal dominant distal juvenile spinal muscular atrophy type 1, dHMN1]","Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.",[182960],,,,,,,, +GARD:16954,Active,Orphanet,ORPHA:139525,Disorder,[Disease],Distal hereditary motor neuropathy type 2,"[Distal spinal muscular atrophy type 2, dHMN2, dSMA2]","A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.","[615575, 158590, 613376, 608634]",,,,,,,, +GARD:16955,Active,Orphanet,ORPHA:139536,Disorder,[Disease],Distal hereditary motor neuropathy type 5,"[Distal HMN V, Distal hereditary motor neuropathy type V, Distal spinal muscular atrophy type 5, dHMN5]","A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.","[614751, 600794, 619112]",,,,,,,, +GARD:16956,Active,Orphanet,ORPHA:139547,Disorder,[Disease],Distal spinal muscular atrophy type 3,"[Autosomal recessive distal spinal muscular atrophy type 3, Distal hereditary motor neuropathy type 3 and type 4, dHMN3 and dHMN4, dSMA3]","Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.",[607088],,,,,,,, +GARD:16957,Active,Orphanet,ORPHA:139557,Disorder,[Disease],X-linked distal spinal muscular atrophy type 3,"[ATP7A-related distal motor neuropathy, DSMAX, SMAX3, X-linked dHMN3, X-linked dSMA3, X-linked distal hereditary motor neuropathy type 3]","X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.",[300489],,,,,,,, +GARD:16958,Active,Orphanet,ORPHA:139564,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 1B,"[HSAN with cough and gastroesophageal reflux, HSAN1B, Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux, Hereditary sensory and autonomic neuropathy type IB]","Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).",[608088],,,,,,,, +GARD:16959,Active,Orphanet,ORPHA:139578,Disorder,[Disease],Mutilating hereditary sensory neuropathy with spastic paraplegia,[Mutilating HSAN with spastic paraplegia],This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.,[256840],,,,,,,, +GARD:1696,Active,Orphanet,ORPHA:231679,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type II,"[Congenital IGHD type II, Congenital isolated GH deficiency type II, Congenital isolated growth hormone deficiency type II]",,[173100],,,,,Isolated growth hormone deficiency type 2,TRUE,FALSE,Active +GARD:16960,Active,Orphanet,ORPHA:139589,Disorder,[Disease],Distal hereditary motor neuropathy type 7,"[Distal spinal muscular atrophy with vocal cord paralysis, dHMN7]","A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","[158580, 607641]",,,,,,,, +GARD:16961,Active,Orphanet,ORPHA:140436,Disorder,[Disease],Primary intraosseous venous malformation,"[Intraosseous hemangioma, Osseous venous malformation]","Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.",[606893],,,,,,,, +GARD:16962,Active,Orphanet,ORPHA:140481,Disorder,[Disease],Autosomal dominant slowed nerve conduction velocity,,"A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.",[608236],,,,,,,, +GARD:16963,Active,Orphanet,ORPHA:140908,Subtype of disorder,[Clinical subtype],Brachydactyly type B2,,"A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.",[611377],,,,,,,, +GARD:16964,Active,Orphanet,ORPHA:140941,Disorder,[Disease],Short stature due to primary acid-labile subunit deficiency,,"Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.",[615961],,,,,,,, +GARD:16965,Active,Orphanet,ORPHA:140957,Disorder,[Disease],Autosomal dominant macrothrombocytopenia,,This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.,"[615193, 619271, 613112, 187800]",,,,,,,, +GARD:16966,Active,Orphanet,ORPHA:140963,Disorder,[Malformation syndrome],Bilateral microtia-deafness-cleft palate syndrome,[Bilateral microtia-hearing loss-cleft palate syndrome],"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.",[612290],,,,,,,, +GARD:16967,Active,Orphanet,ORPHA:140966,Disorder,[Disease],"Palmoplantar keratoderma, Nagashima type","[PPK, Nagashima type, Palmoplantar hyperkeratosis, Nagashima type]","A rare autosomal recessive, isolated diffuse palmoplantar keratoderma charactized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.",[615598],,,,,,,, +GARD:16968,Active,Orphanet,ORPHA:141022,Disorder,[Morphological anomaly],Second branchial cleft anomaly,"[Second branchial cleft cyst, Second branchial cleft fistula]","A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.",[113600],,,,,,,, +GARD:16969,Active,Orphanet,ORPHA:141074,Disorder,[Morphological anomaly],External auditory canal aplasia/hypoplasia,[External auditory canal stenosis/atresia],"A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.","[108760, 607842]",,,,,,,, +GARD:1697,Active,Orphanet+OMIM,OMIM:220290,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 1a",,,[220290],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,DFNB1,TRUE,FALSE,Active +GARD:16970,Active,Orphanet,ORPHA:141103,Disorder,[Morphological anomaly],Nasal dermoid cyst,[Nasal dermoid sinus cyst],"A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.",[600679],,,,,,,, +GARD:16971,Active,Orphanet,ORPHA:141145,Disorder,[Malformation syndrome],Hemifacial hyperplasia,[Hemifacial hypertrophy],"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.",[133900],,,,,,,, +GARD:16972,Active,Orphanet,ORPHA:141152,Disorder,[Morphological anomaly],Isolated congenital hypoglossia/aglossia,,"A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.",[612776],,,,,,,, +GARD:16973,Active,Orphanet,ORPHA:141242,Disorder,[Morphological anomaly],Paramedian nasal cleft,"[Alar cleft, Alar rim cleft, Cleft nose, Isolated cleft of the ala nasi, Isolated coloboma of the nose, Tessier number 1 cleft]","Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.",[614687],,,,,,,, +GARD:16974,Active,Orphanet,ORPHA:141258,Disorder,[Morphological anomaly],Tessier number 4 facial cleft,,"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.",[600251],,,,,,,, +GARD:16975,Active,Orphanet,ORPHA:141276,Disorder,[Morphological anomaly],Tessier number 7 facial cleft,"[Commissural facial cleft, Transverse facial cleft]","A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.",[613545],,,,,,,, +GARD:16976,Active,Orphanet,ORPHA:141291,Disorder,[Morphological anomaly],Cleft lip and alveolus,,"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","[608874, 225060, 602966, 608371, 600757, 612858, 119530, 610361, 129400]",,,,,,,, +GARD:16977,Active,Orphanet,ORPHA:157215,Disorder,[Disease],Hereditary hypophosphatemic rickets with hypercalciuria,[HHRH],"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.",[241530],,,,,,,, +GARD:16978,Active,Orphanet,ORPHA:157713,Subtype of disorder,[Clinical subtype],Congenital or early infantile CACH syndrome,,,[603896],,,,,,,, +GARD:16979,Active,Orphanet,ORPHA:157716,Subtype of disorder,[Clinical subtype],Late infantile CACH syndrome,,,[603896],,,,,,,, +GARD:1698,Active,Orphanet,ORPHA:3230,Disorder,[Malformation syndrome],Deafness-oligodontia syndrome,[Hearing loss-oligodontia syndrome],Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.,[221740],,,,,Deafness oligodontia syndrome,TRUE,FALSE,Active +GARD:16980,Active,Orphanet,ORPHA:157719,Subtype of disorder,[Clinical subtype],Juvenile or adult CACH syndrome,,,[603896],,,,,,,, +GARD:16981,Active,Orphanet,ORPHA:157794,Disorder,[Disease],Hereditary mixed polyposis syndrome,[HMPS],"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","[601228, 610069]",,,,,,,, +GARD:16982,Active,Orphanet,ORPHA:157798,Disorder,[Disease],Serrated polyposis syndrome,[Hyperplastic polyposis syndrome],"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.",[617108],,,,,,,, +GARD:16983,Active,Orphanet,ORPHA:157820,Disorder,[Disease],Cold-induced sweating syndrome,[CISS],"Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.","[272430, 610313, 617055]",,,,,,,, +GARD:16984,Active,Orphanet,ORPHA:157832,Disorder,[Malformation syndrome],Craniorhiny,,"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.",[123050],,,,,,,, +GARD:16985,Active,Orphanet,ORPHA:157941,Disorder,[Disease],Huntington disease-like 1,"[Early-onset prion disease with prominent psychiatric features, HDL1]","A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.",[603218],,,,,,,, +GARD:16986,Active,Orphanet,ORPHA:157946,Disorder,[Disease],Huntington disease-like 3,[HDL3],"Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.",[604802],,,,,,,, +GARD:16987,Active,Orphanet,ORPHA:157954,Disorder,[Disease],ANE syndrome,[Alopecia-progressive neurological defect-endocrinopathy syndrome],"A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.",[612079],,,,,,,, +GARD:16988,Active,Orphanet,ORPHA:157962,Disorder,[Malformation syndrome],"Oculoauricular syndrome, Schorderet type",,"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).",[612109],,,,,,,, +GARD:16989,Active,Orphanet,ORPHA:158025,Disorder,[Disease],Hereditary progressive mucinous histiocytosis,,"Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.",[142630],,,,,,,, +GARD:1699,Legacy,GARD,,,,,,,,,,,,Deafness onychodystrophy dominant form,TRUE,FALSE,Retired +GARD:16990,Active,Orphanet,ORPHA:158681,Disorder,[Disease],Epidermolysis bullosa simplex with circinate migratory erythema,"[EBS with circinate migratory erythema, EBS-migr]","A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.",[609352],,,,,,,, +GARD:16991,Active,Orphanet,ORPHA:158684,Disorder,[Disease],Epidermolysis bullosa simplex with pyloric atresia,"[EBS with pyloric atresia, EBS-PA]","A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.",[612138],,,,,,,, +GARD:16992,Active,Orphanet,ORPHA:163596,Subtype of disorder,[Clinical subtype],Hb Bart's hydrops fetalis,"[Alpha-thalassemia hydrops fetalis, Alpha-thalassemia major, Hemoglobin Bart's hydrops fetalis, Homozygous alpha0-thalassemia]","A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.",[236750],,,,,,,, +GARD:16993,Active,Orphanet,ORPHA:163649,Disorder,[Disease],Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,,"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.","[602611, 618618]",,,,,,,, +GARD:16994,Active,Orphanet,ORPHA:163662,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Reardon type",,"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.",[600561],,,,,,,, +GARD:16995,Active,Orphanet,ORPHA:163665,Disorder,[Disease],"Spondyloepiphyseal dysplasia tarda, Kohn type",,"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.",[271620],,,,,,,, +GARD:16996,Active,Orphanet,ORPHA:163668,Disorder,[Malformation syndrome],"Spondyloepiphyseal dysplasia, MacDermot type","[Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome, Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome]","Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.",[184000],,,,,,,, +GARD:16997,Active,Orphanet,ORPHA:163681,Disorder,[Disease],CNTNAP2-related developmental and epileptic encephalopathy,"[CDFE syndrome, CDFES, CNTNAP2-related DEE, Cortical dysplasia-focal epilepsy syndrome]","A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.",[610042],,,,,,,, +GARD:16998,Active,Orphanet,ORPHA:163690,Disorder,[Disease],Hypotonia-cystinuria syndrome,[HCS],"A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.",[606407],,,,,,,, +GARD:16999,Active,Orphanet,ORPHA:163693,Disorder,[Disease],2p21 microdeletion syndrome,"[2p21 deletion syndrome, Del(2)(p21), Monosomy 2p21]","The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.",[606407],,,,,,,, +GARD:17,Active,Orphanet,ORPHA:2356,Disorder,[Morphological anomaly],Arachnoid cyst,,"A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.","[182990, 207790]",,,,,Arachnoid cysts,TRUE,FALSE,Active +GARD:170,Legacy,GARD,,,,,,,,,,,,Macrocephaly mesodermal hamartoma spectrum,TRUE,FALSE,Retired +GARD:17000,Active,Orphanet,ORPHA:163696,Disorder,[Disease],Action myoclonus-renal failure syndrome,"[AMRF, EPM4, Myoclonus-nephropathy syndrome, Progressive myoclonic epilepsy type 4, Progressive myoclonus epilepsy type 4]","A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.",[254900],,,,,,,, +GARD:17001,Active,Orphanet,ORPHA:163717,Disorder,[Disease],Benign familial mesial temporal lobe epilepsy,[Benign FMTLE],"Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.","[614417, 611630, 615697]",,,,,,,, +GARD:17002,Active,Orphanet,ORPHA:163721,Disorder,[Disease],Rolandic epilepsy-speech dyspraxia syndrome,,"Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.","[300643, 245570]",,,,,,,, +GARD:17003,Active,Orphanet,ORPHA:163727,Disorder,[Disease],Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,[Rolandic epilepsy exercise-induced dystonia],"A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.",[608105],,,,,,,, +GARD:17004,Active,Orphanet,ORPHA:163746,Disorder,[Disease],Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,"[Neurologic Waardenburg-Shah syndrome, PCWH, WS4 plus]",Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.,[609136],,,,,,,, +GARD:17005,Active,Orphanet,ORPHA:163956,Disorder,[Disease],"X-linked intellectual disability, Nascimento type",[X-linked intellectual disability-nail dystrophy-seizures syndrome],"X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.",[300860],,,,,,,, +GARD:17006,Active,Orphanet,ORPHA:163961,Disorder,[Disease],X-linked cerebral-cerebellar-coloboma syndrome,"[X-linked intellectual disability, Kroes type]","X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.",[300864],,,,,,,, +GARD:17007,Active,Orphanet,ORPHA:163966,Disorder,[Disease],"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",[X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome],"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.",[300863],,,,,,,, +GARD:17008,Active,Orphanet,ORPHA:163976,Disorder,[Malformation syndrome],"X-linked intellectual disability, Van Esch type",,"A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.",[301030],,,,,,,, +GARD:17009,Active,Orphanet,ORPHA:163979,Disorder,[Disease],X-linked intellectual disability-craniofacioskeletal syndrome,,"X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.",[300712],,,,,,,, +GARD:1701,Legacy,GARD,,,,,,,,,,,,Deafness peripheral neuropathy arterial disease,TRUE,FALSE,Active +GARD:17010,Active,Orphanet,ORPHA:163985,Disorder,[Disease],Hyperekplexia-epilepsy syndrome,,"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.",[300607],,,,,,,, +GARD:17011,Active,Orphanet,ORPHA:165805,Disorder,[Disease],Familial mesial temporal lobe epilepsy with febrile seizures,,"A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedant history of febrile seizures, ocurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated.",[614418],,,,,,,, +GARD:17012,Active,Orphanet,ORPHA:166011,Disorder,[Disease],"Multiple epiphyseal dysplasia, Beighton type","[Multiple epiphyseal dysplasia-myopia-deafness syndrome, Multiple epiphyseal dysplasia-myopia-hearing loss syndrome]","A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.",[132450],,,,,,,, +GARD:17013,Active,Orphanet,ORPHA:166016,Disorder,[Disease],"Multiple epiphyseal dysplasia, Lowry type",[Multiple epiphyseal dysplasia with Robin phenotype],"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.",[601560],,,,,,,, +GARD:17014,Active,Orphanet,ORPHA:166024,Disorder,[Disease],"Multiple epiphyseal dysplasia, Al-Gazali type",[Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome],"A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.",[607131],,,,,,,, +GARD:17015,Active,Orphanet,ORPHA:166029,Disorder,[Disease],"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",,"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.",[609324],,,,,,,, +GARD:17016,Active,Orphanet,ORPHA:166032,Disorder,[Disease],"Multiple epiphyseal dysplasia, with miniepiphyses",,"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.",[609325],,,,,,,, +GARD:17017,Active,Orphanet,ORPHA:166035,Disorder,[Malformation syndrome],Brachydactyly-short stature-retinitis pigmentosa syndrome,,"Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.",[250410],,,,,,,, +GARD:17018,Active,Orphanet,ORPHA:166038,Disorder,[Disease],"Metaphyseal chondrodysplasia, Kaitila type",,"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.",[250230],,,,,,,, +GARD:17019,Active,Orphanet,ORPHA:166078,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 1,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).",[193400],,,,,,,, +GARD:1702,Legacy,GARD,,,,,,,,,,,,Deafness progressive cataract autosomal dominant,TRUE,FALSE,Active +GARD:17020,Active,Orphanet,ORPHA:166081,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.",[613554],,,,,,,, +GARD:17021,Active,Orphanet,ORPHA:166084,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2A,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17022,Active,Orphanet,ORPHA:166087,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2B,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17023,Active,Orphanet,ORPHA:166090,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2M,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17024,Active,Orphanet,ORPHA:166093,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2N,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).",[613554],,,,,,,, +GARD:17025,Active,Orphanet,ORPHA:166096,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 3,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.",[277480],,,,,,,, +GARD:17026,Active,Orphanet,ORPHA:166105,Disorder,[Disease],FASTKD2-related infantile mitochondrial encephalomyopathy,,"FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.",[618855],,,,,,,, +GARD:17027,Active,Orphanet,ORPHA:166119,Disorder,[Disease],Isolated osteopoikilosis,,"A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.",[166700],,,,,,,, +GARD:17028,Active,Orphanet,ORPHA:166412,Disorder,[Disease],Hot water reflex epilepsy,,"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","[613339, 613340]",,,,,,,, +GARD:17029,Active,Orphanet,ORPHA:166433,Disorder,[Disease],Reading seizures,,A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.,[132300],,,,,,,, +GARD:17030,Active,Orphanet,ORPHA:168451,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.,[601668],,,,,,,, +GARD:17031,Active,Orphanet,ORPHA:168486,Disorder,[Disease],Congenital neuronal ceroid lipofuscinosis,[Congenital NCL],"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.",[610127],,,,,,,, +GARD:17032,Active,Orphanet,ORPHA:168491,Disorder,[Disease],Late infantile neuronal ceroid lipofuscinosis,"[Jansky-Bielschowsky disease, LINCL, Late infantile NCL]","Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.","[610127, 610951, 600143, 601780, 256730, 204500, 256731]",,,,,,,, +GARD:17033,Active,Orphanet,ORPHA:168558,Disorder,[Disease],"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",[XY sex reversal-adrenal failure],"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.",[613743],,,,,,,, +GARD:17034,Active,Orphanet,ORPHA:168563,Disorder,[Malformation syndrome],"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.",[607080],,,,,,,, +GARD:17035,Active,Orphanet,ORPHA:168566,Disorder,[Disease],Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,[Fatal mitochondrial disease due to COXPD3],"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.",[610505],,,,,,,, +GARD:17036,Active,Orphanet,ORPHA:168577,Disorder,[Disease],Hereditary cryohydrocytosis with reduced stomatin,"[CHC type 2, Hereditary cryohydrocytosis type 2, Stomatin-deficient cryohydrocytosis, sdCHC]","Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.",[608885],,,,,,,, +GARD:17037,Active,Orphanet,ORPHA:168583,Subtype of disorder,[Clinical subtype],Hereditary North American Indian childhood cirrhosis,,"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.",[604901],,,,,,,, +GARD:17038,Active,Orphanet,ORPHA:168601,Disorder,[Disease],Congenital enteropathy due to enteropeptidase deficiency,[Congenital enterokinase deficiency],"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.",[226200],,,,,,,, +GARD:17039,Active,Orphanet,ORPHA:168606,Disorder,[Disease],Seborrhea-like dermatitis with psoriasiform elements,,"Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.",[610227],,,,,,,, +GARD:17040,Active,Orphanet,ORPHA:168612,Disorder,[Biological anomaly],Congenital deficiency in alpha-fetoprotein,,Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.,[615969],,,,,,,, +GARD:17041,Active,Orphanet,ORPHA:168629,Subtype of disorder,[Etiological subtype],Autosomal thrombocytopenia with normal platelets,,,"[273900, 612004, 188000]",,,,,,,, +GARD:17042,Active,Orphanet,ORPHA:168632,Disorder,[Disease],Generalized basaloid follicular hamartoma syndrome,,"Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.",[605827],,,,,,,, +GARD:17043,Active,Orphanet,ORPHA:168953,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,"[8p11 myeloproliferative syndrome, Stem cell leukemia/lymphoma]","A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.",[613523],,,,,,,, +GARD:17044,Active,Orphanet,ORPHA:168984,Disorder,[Malformation syndrome],CLAPO syndrome,,"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.",[613089],,,,,,,, +GARD:17045,Active,Orphanet,ORPHA:169079,Disorder,[Disease],Cernunnos-XLF deficiency,"[Cernunnos XLFD, Cernunnos deficiency, Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, NHEJ1 deficiency]","Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.",[611291],,,,,,,, +GARD:17046,Active,Orphanet,ORPHA:169082,Disorder,[Disease],Combined immunodeficiency due to CD3gamma deficiency,,"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.",[615607],,,,,,,, +GARD:17047,Active,Orphanet,ORPHA:169085,Disorder,[Disease],Susceptibility to respiratory infections associated with CD8alpha chain mutation,[Familial CD8 deficiency],A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.,[608957],,,,,,,, +GARD:17048,Active,Orphanet,ORPHA:169090,Disorder,[Disease],Combined immunodeficiency due to CRAC channel dysfunction,[Immune dysfunction due to T-cell inactivation due to calcium entry defect],"Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.","[612783, 612782]",,,,,,,, +GARD:17049,Active,Orphanet,ORPHA:169100,Disorder,[Disease],Immunodeficiency due to CD25 deficiency,[Interleukin-2 receptor alpha chain deficiency],"Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.",[606367],,,,,,,, +GARD:1705,Active,Orphanet,ORPHA:3239,Disorder,[Malformation syndrome],Deafness-vitiligo-achalasia syndrome,[Hearing loss-vitiligo-achalasia syndrome],"Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.",[221350],,,,,Congenital deafness with vitiligo and achalasia,TRUE,FALSE,Active +GARD:17050,Active,Orphanet,ORPHA:169150,Disorder,[Disease],Immunodeficiency due to a late component of complement deficiency,"[Immunodeficiency due to C5 to C9 component complement deficiency, Terminal complement pathway deficiency]","Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.","[612446, 613789, 609536, 610102, 613790, 613825]",,,,,,,, +GARD:17051,Active,Orphanet,ORPHA:169154,Disorder,[Disease],T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,[T-B+ SCID due to IL-7Ralpha deficiency],"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.",[608971],,,,,,,, +GARD:17052,Active,Orphanet,ORPHA:169157,Disorder,[Disease],T-B+ severe combined immunodeficiency due to CD45 deficiency,[T-B+ SCID due to CD45 deficiency],"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.",[608971],,,,,,,, +GARD:17053,Active,Orphanet,ORPHA:169160,Disorder,[Disease],T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,[T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta],"A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.","[610163, 615615, 608971, 615617]",,,,,,,, +GARD:17054,Active,Orphanet,ORPHA:169464,Disorder,[Disease],Primary CD59 deficiency,,"Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).",[612300],,,,,,,, +GARD:17055,Active,Orphanet,ORPHA:169467,Disorder,[Disease],Recurrent Neisseria infections due to factor D deficiency,,"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.",[613912],,,,,,,, +GARD:17056,Active,Orphanet,ORPHA:169793,Subtype of disorder,[Clinical subtype],Severe hemophilia B,"[Severe congenital F9 deficiency, Severe congenital factor IX deficiency]","A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17057,Active,Orphanet,ORPHA:169796,Subtype of disorder,[Clinical subtype],Moderate hemophilia B,"[Moderate congenital F9 deficiency, Moderate congenital factor IX deficiency]","A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17058,Active,Orphanet,ORPHA:169799,Subtype of disorder,[Clinical subtype],Mild hemophilia B,"[Mild congenital F9 deficiency, Mild congenital factor IX deficiency]","A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17059,Active,Orphanet,ORPHA:169802,Subtype of disorder,[Clinical subtype],Severe hemophilia A,"[Severe congenital F8 deficiency, Severe congenital factor VIII deficiency]","A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17060,Active,Orphanet,ORPHA:169805,Subtype of disorder,[Clinical subtype],Moderate hemophilia A,"[Moderate congenital F8 deficiency, Moderate congenital factor VIII deficiency]","A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17061,Active,Orphanet,ORPHA:169808,Subtype of disorder,[Clinical subtype],Mild hemophilia A,"[Mild congenital F8 deficiency, Mild congenital factor VIII deficiency]","A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17062,Active,Orphanet,ORPHA:171445,Disorder,[Disease],Muscle filaminopathy,,"Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.",[609524],,,,,,,, +GARD:17063,Active,Orphanet,ORPHA:171607,Disorder,[Disease],X-linked spastic paraplegia type 34,[SPG34],"X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.",[300750],,,,,,,, +GARD:17064,Active,Orphanet,ORPHA:171612,Disorder,[Disease],Autosomal dominant spastic paraplegia type 37,[SPG37],"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.",[611945],,,,,,,, +GARD:17065,Active,Orphanet,ORPHA:171617,Disorder,[Disease],Autosomal dominant spastic paraplegia type 38,[SPG38],"A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.",[612335],,,,,,,, +GARD:17066,Active,Orphanet,ORPHA:171680,Disorder,[Malformation syndrome],Lissencephaly due to TUBA1A mutation,,"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.",[611603],,,,,,,, +GARD:17067,Active,Orphanet,ORPHA:171690,Disorder,[Disease],Metabolic myopathy due to lactate transporter defect,[Erythrocyte lactate transporter defect],"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.",[245340],,,,,,,, +GARD:17068,Active,Orphanet,ORPHA:171706,Disorder,[Disease],Short stature-delayed bone age due to thyroid hormone metabolism deficiency,,"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.",[609698],,,,,,,, +GARD:17069,Active,Orphanet,ORPHA:171719,Disorder,[Malformation syndrome],Cutis laxa-Marfanoid syndrome,,"A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.",[614100],,,,,,,, +GARD:1707,Legacy,GARD,,,,,,,,,,,,"Deafness X-linked, DFN3",TRUE,FALSE,Active +GARD:17070,Active,Orphanet,ORPHA:171844,Disorder,[Malformation syndrome],Blindness-scoliosis-arachnodactyly syndrome,,This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.,[612445],,,,,,,, +GARD:17071,Active,Orphanet,ORPHA:171848,Disorder,[Disease],Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,"[PHARC syndrome, Peripheral neuropathy, Fiskerstrand type, Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome]","Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.",[612674],,,,,,,, +GARD:17072,Active,Orphanet,ORPHA:171851,Disorder,[Disease],MEDNIK syndrome,"[Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome]","A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.",[609313],,,,,,,, +GARD:17073,Active,Orphanet,ORPHA:171863,Disorder,[Disease],Autosomal dominant spastic paraplegia type 42,[SPG42],"A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.",[612539],,,,,,,, +GARD:17074,Active,Orphanet,ORPHA:177907,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to translocation,,,[176270],,,,,,,, +GARD:17075,Active,Orphanet,ORPHA:177910,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to imprinting mutation,,,[176270],,,,,,,, +GARD:17076,Active,Orphanet,ORPHA:177926,Subtype of disorder,[Clinical subtype],Bleeding disorder in hemophilia A carriers,,"A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.",[306700],,,,,,,, +GARD:17077,Active,Orphanet,ORPHA:177929,Subtype of disorder,[Clinical subtype],Bleeding disorder in hemophilia B carriers,,"A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.",[306900],,,,,,,, +GARD:17078,Active,Orphanet,ORPHA:178145,Subtype of disorder,[Clinical subtype],Moderate multiminicore disease with hand involvement,,,[117000],,,,,,,, +GARD:17079,Active,Orphanet,ORPHA:178307,Disorder,[Disease],Reticulate acropigmentation of Kitamura,[RAK],"A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.",[615537],,,,,,,, +GARD:1708,Active,Orphanet+OMIM,OMIM:605192,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 23",,,[605192],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 23",TRUE,FALSE,Active +GARD:17080,Active,Orphanet,ORPHA:178400,Disorder,[Disease],Distal myopathy with anterior tibial onset,[Distal anterior compartment myopathy],"Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.",[606768],,,,,,,, +GARD:17081,Active,Orphanet,ORPHA:178461,Disorder,[Disease],X-linked myopathy with postural muscle atrophy,[XMPMA],"X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.",[300696],,,,,,,, +GARD:17082,Active,Orphanet,ORPHA:178506,Disorder,[Disease],"Brain calcification, Rajab type",,"A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.","[619013, 613658]",,,,,,,, +GARD:17083,Active,Orphanet,ORPHA:179494,Subtype of disorder,[Etiological subtype],Obesity due to leptin receptor gene deficiency,,"A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.",[614963],,,,,,,, +GARD:17084,Active,Orphanet,ORPHA:183663,Disorder,[Disease],Hyper-IgM syndrome with susceptibility to opportunistic infections,[HIGM with susceptibility to opportunistic infections],"Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.","[308230, 606843]",,,,,,,, +GARD:17085,Active,Orphanet,ORPHA:183666,Disorder,[Disease],Hyper-IgM syndrome without susceptibility to opportunistic infections,[HIGM without susceptibility to opportunistic infections],"Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.","[608106, 605258, 608184]",,,,,,,, +GARD:17086,Active,Orphanet,ORPHA:183675,Disorder,[Disease],Recurrent infections associated with rare immunoglobulin isotypes deficiency,"[IgG subclass deficiency with IgA subclass deficiency, Isolated IgG subclass deficiency, Kappa-chain deficiency, Selective IgG subclass deficiency]","Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.",[614102],,,,,,,, +GARD:17087,Active,Orphanet,ORPHA:183707,Disorder,[Disease],Neutrophil immunodeficiency syndrome,,"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.","[618987, 608203]",,,,,,,, +GARD:17088,Active,Orphanet,ORPHA:189466,Subtype of disorder,[Clinical subtype],Familial isolated hypoparathyroidism due to impaired PTH secretion,,,[146200],,,,,,,, +GARD:17089,Active,Orphanet,ORPHA:199279,Disorder,[Disease],Familial angiolipomatosis,,"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.",[206550],,,,,,,, +GARD:1709,Legacy,GARD,,,,,,,,,,,,"Deafness, isolated, due to mitochondrial transmission",TRUE,FALSE,Active +GARD:17090,Active,Orphanet,ORPHA:199285,Disorder,[Disease],Hereditary hypercarotenemia and vitamin A deficiency,,"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.","[115300, 277350]",,,,,,,, +GARD:17091,Active,Orphanet,ORPHA:199302,Disorder,[Morphological anomaly],Isolated cleft lip,,Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.,"[608874, 225060, 602966, 608371, 600757, 612858, 119530, 610361, 129400]",,,,,,,, +GARD:17092,Active,Orphanet,ORPHA:199306,Disorder,[Morphological anomaly],Cleft lip/palate,"[Alveolar cleft lip and palate, Cleft lip and palate, Cleft lip-alveolus-palate syndrome, FLP]","Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","[225060, 618149, 608864, 600625, 608371, 600757, 612858, 610361, 129400, 608874, 616788, 602966, 119530, 613705]",,,,,,,, +GARD:17093,Active,Orphanet,ORPHA:199315,Disorder,[Malformation syndrome],Familial clubfoot with or without associated lower limb anomalies,,"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","[613618, 119800]",,,,,,,, +GARD:17094,Active,Orphanet,ORPHA:199332,Disorder,[Malformation syndrome],Endocrine-cerebro-osteodysplasia syndrome,[ECO syndrome],"Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.",[612651],,,,,,,, +GARD:17095,Active,Orphanet,ORPHA:199337,Disorder,[Disease],Pancreatic insufficiency-anemia-hyperostosis syndrome,,"This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.",[612714],,,,,,,, +GARD:17096,Active,Orphanet,ORPHA:199340,Disorder,[Disease],"Muscular dystrophy, Selcen type",,Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.,[612954],,,,,,,, +GARD:17097,Active,Orphanet,ORPHA:199348,Disorder,[Disease],Thiamine-responsive encephalopathy,,Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.,[607483],,,,,,,, +GARD:17098,Active,Orphanet,ORPHA:200418,Disorder,[Disease],Immunodeficiency with factor I anomaly,[Complete factor I deficiency],"Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.",[610984],,,,,,,, +GARD:17099,Active,Orphanet,ORPHA:200421,Disorder,[Disease],Immunodeficiency with factor H anomaly,,"Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.",[609814],,,,,,,, +GARD:171,Legacy,GARD,,,,,,,,,,,,Le Marec Bracq Picaud syndrome,TRUE,FALSE,Active +GARD:1710,Legacy,GARD,,,,,,,,,,,,"Deafness, neurosensory nonsyndromic recessive, DFN",TRUE,FALSE,Active +GARD:17100,Active,Orphanet,ORPHA:206484,Disorder,[Disease],Gonadoblastoma,,"Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.",[424500],,,,,,,, +GARD:17101,Active,Orphanet,ORPHA:206580,Disorder,[Disease],Autosomal recessive lower motor neuron disease with childhood onset,"[Autosomal recessive distal spinal muscular atrophy type 4, Distal spinal muscular atrophy type 4, dSMA4]","A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.",[611067],,,,,,,, +GARD:17102,Active,Orphanet,ORPHA:209335,Disorder,[Disease],Autosomal dominant adult-onset proximal spinal muscular atrophy,"[Autosomal dominant adult-onset proximal SMA, Autosomal dominant late-onset spinal muscular atrophy, Finkel type, Finkel disease, SMAFK]","A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.",[182980],,,,,,,, +GARD:17103,Active,Orphanet,ORPHA:209370,Disorder,[Disease],Severe neonatal-onset encephalopathy with microcephaly,[Severe congenital encephalopathy due to MECP2 mutation],"Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.",[300673],,,,,,,, +GARD:17104,Active,Orphanet,ORPHA:209867,Disorder,[Disease],Autosomal dominant rhegmatogenous retinal detachment,,"A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.",[609508],,,,,,,, +GARD:17105,Active,Orphanet,ORPHA:209916,Disorder,[Disease],Extraskeletal myxoid chondrosarcoma,,"A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.",[612237],,,,,,,, +GARD:17106,Active,Orphanet,ORPHA:209919,Disorder,[Disease],Idiopathic copper-associated cirrhosis,[Non-Wilsonian hepatic copper toxicosis of infancy and childhood],"Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.",[215600],,,,,,,, +GARD:17107,Active,Orphanet,ORPHA:209967,Disorder,[Disease],Episodic ataxia type 6,,"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.",[612656],,,,,,,, +GARD:17108,Active,Orphanet,ORPHA:209970,Disorder,[Disease],Episodic ataxia type 7,,"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.",[611907],,,,,,,, +GARD:17109,Active,Orphanet,ORPHA:210141,Disorder,[Disease],Inherited congenital spastic tetraplegia,[Inherited congenital spastic quadriplegia],"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.","[617008, 612900]",,,,,,,, +GARD:17110,Active,Orphanet,ORPHA:210144,Disorder,[Malformation syndrome],"Lethal polymalformative syndrome, Boissel type",,"Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.",[612938],,,,,,,, +GARD:17111,Active,Orphanet,ORPHA:210163,Disorder,[Disease],"Congenital lethal myopathy, Compton-North type",,"Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.",[612540],,,,,,,, +GARD:17112,Active,Orphanet,ORPHA:210548,Disorder,[Disease],Macrocephaly-intellectual disability-autism syndrome,,"A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.","[605309, 613926]",,,,,,,, +GARD:17113,Active,Orphanet,ORPHA:211067,Disorder,[Disease],Episodic ataxia type 5,,Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.,[613855],,,,,,,, +GARD:17114,Active,Orphanet,ORPHA:216866,Subtype of disorder,[Clinical subtype],Classic pantothenate kinase-associated neurodegeneration,"[NBIA1, classic form, Neurodegeneration with brain iron accumulation type 1, classic form, PKAN, classic form]",,[234200],,,,,,,, +GARD:17115,Active,Orphanet,ORPHA:216873,Subtype of disorder,[Clinical subtype],Atypical pantothenate kinase-associated neurodegeneration,"[NBIA1, atypical form, Neurodegeneration with brain iron accumulation type 1, atypical form, PKAN, atypical form]",,[234200],,,,,,,, +GARD:17116,Active,Orphanet,ORPHA:217026,Disorder,[Malformation syndrome],"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","[Hadziselimovic syndrome, Microcephaly-faciocardioskeletal syndrome]","Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.",[612946],,,,,,,, +GARD:17117,Active,Orphanet,ORPHA:217059,Disorder,[Morphological anomaly],Isolated congenital digital clubbing,"[Isolated congenital acropachy, Isolated congenital nail clubbing]",Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.,[119900],,,,,,,, +GARD:17118,Active,Orphanet,ORPHA:217085,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 2, severe form","[Hunter syndrome type A, Iduronate 2-sulfatase deficiency type A, MPS2A, MPSIIA, Mucopolysaccharidosis type 2A, Mucopolysaccharidosis type II, severe form, Mucopolysaccharidosis type IIA]","Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.",[309900],,,,,,,, +GARD:17119,Active,Orphanet,ORPHA:217093,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 2, attenuated form","[Hunter syndrome type B, Iduronate 2-sulfatase deficiency type B, MPS2B, MPSIIB, Mucopolysaccharidosis type 2B, Mucopolysaccharidosis type II, attenuated form, Mucopolysaccharidosis type IIB]","Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.",[309900],,,,,,,, +GARD:17120,Active,Orphanet,ORPHA:217335,Disorder,[Malformation syndrome],RIN2 syndrome,"[MACS syndrome, Macrocephaly-alopecia-cutis laxa-scoliosis syndrome, RIN2 deficiency, Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome]","RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.",[613075],,,,,,,, +GARD:17121,Active,Orphanet,ORPHA:217340,Disorder,[Malformation syndrome],17q21.31 microduplication syndrome,"[Dup(17)(q21.31), Trisomy 17q21.31]","The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.",[613533],,,,,,,, +GARD:17122,Active,Orphanet,ORPHA:217385,Disorder,[Malformation syndrome],17p13.3 microduplication syndrome,"[17p13.3 duplication syndrome, Dup(17)(p13.3), Trisomy 17p13.3]",17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.,[613215],,,,,,,, +GARD:17123,Active,Orphanet,ORPHA:217396,Disorder,[Disease],Progressive polyneuropathy with bilateral striatal necrosis,,"Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.",[613710],,,,,,,, +GARD:17124,Active,Orphanet,ORPHA:217407,Disorder,[Disease],Hereditary hypotrichosis with recurrent skin vesicles,,"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.",[613102],,,,,,,, +GARD:17125,Active,Orphanet,ORPHA:217467,Disorder,[Disease],Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,[Hereditary thrombophilia due to congenital HRG deficiency],"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.",[613116],,,,,,,, +GARD:17126,Active,Orphanet,ORPHA:217563,Disorder,[Disease],Neonatal acute respiratory distress due to SP-B deficiency,[Neonatal acute respiratory distress due to surfactant protein B deficiency],"A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.",[265120],,,,,,,, +GARD:17127,Active,Orphanet,ORPHA:217566,Disorder,[Disease],Chronic respiratory distress with surfactant metabolism deficiency,,"Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.",[610913],,,,,,,, +GARD:17128,Active,Orphanet,ORPHA:217622,Disorder,[Disease],Sensorineural deafness with dilated cardiomyopathy,"[Neurosensory deafness with dilated cardiomyopathy, Neurosensory hearing loss with dilated cardiomyopathy, Sensorineural hearing loss with dilated cardiomyopathy]","Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.",[605362],,,,,,,, +GARD:17129,Active,Orphanet,ORPHA:217656,Disorder,[Disease],Familial isolated arrhythmogenic right ventricular dysplasia,"[Familial isolated ARVC, Familial isolated ARVD, Familial isolated arrhythmogenic right ventricular cardiomyopathy, Familial isolated arrhythmogenic ventricular cardiomyopathy, Familial isolated arrhythmogenic ventricular dysplasia]","Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","[604400, 610193, 611528, 615616, 610476, 600996, 607450, 107970, 602086, 604401, 609040, 602087]",,,,,,,, +GARD:17130,Active,Orphanet,ORPHA:220295,Disorder,[Disease],Xeroderma pigmentosum-Cockayne syndrome complex,[XP/CS complex],Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).,"[610651, 278780, 278730, 278760]",,,,,,,, +GARD:17131,Active,Orphanet,ORPHA:220386,Subtype of disorder,[Clinical subtype],Semilobar holoprosencephaly,,"A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.","[609637, 301043, 610829, 157170]",,,,,,,, +GARD:17132,Active,Orphanet,ORPHA:220443,Disorder,[Disease],Bleeding diathesis due to thromboxane synthesis deficiency,,"Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).",[614009],,,,,,,, +GARD:17133,Active,Orphanet,ORPHA:220465,Disorder,[Disease],Laron syndrome with immunodeficiency,"[Laron-like syndrome, Short stature due to STAT5b deficiency]",This syndrome is characterized by severe growth retardation associated with immunodeficiency.,"[245590, 618985]",,,,,,,, +GARD:17134,Active,Orphanet,ORPHA:221008,Subtype of disorder,[Clinical subtype],Rothmund-Thomson syndrome type 1,"[Poikiloderma of Rothmund-Thomson type 1, RTS1]","Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.","[618625, 268400]",,,,,,,, +GARD:17135,Active,Orphanet,ORPHA:221016,Subtype of disorder,[Clinical subtype],Rothmund-Thomson syndrome type 2,"[Poikiloderma of Rothmund-Thomson type 2, RTS2]","Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.",[268400],,,,,,,, +GARD:17136,Active,Orphanet,ORPHA:221039,Disorder,[Disease],"Hereditary sclerosing poikiloderma, Weary type",,"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.",[173700],,,,,,,, +GARD:17137,Active,Orphanet,ORPHA:221083,Disorder,[Disease],Hemifacial spasm,"[Facial hemispasm, Focal myoclonus of face]","A rare acquired peripheral neuropathy characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.",[141405],,,,,,,, +GARD:17138,Active,Orphanet,ORPHA:221126,Disorder,[Malformation syndrome],Fowler vasculopaty,"[Cerebral proliferative glomeruloid vasculopathy, Encephaloclastic proliferative vasculopathy, Hydrocephaly/hydranencephaly due to cerebral vasculopathy, Proliferative vasculopathy and hydranencephaly/hydrocephaly]","A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.",[225790],,,,,,,, +GARD:17139,Active,Orphanet,ORPHA:221139,Disorder,[Disease],Combined immunodeficiency with faciooculoskeletal anomalies,[Roifman-Chitayat syndrome],"A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).",[613328],,,,,,,, +GARD:17140,Active,Orphanet,ORPHA:221145,Disorder,[Malformation syndrome],"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","[ARCL1C, Autosomal recessive cutis laxa type 1C, Urban-Rifkin-Davis syndrome]","A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).",[613177],,,,,,,, +GARD:17141,Active,Orphanet,ORPHA:225154,Disorder,[Disease],Familial infantile bilateral striatal necrosis,"[Familial IBSN, Familial infantile striatonigral degeneration, Familial infantile striatonigral necrosis]","Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.","[271930, 500003]",,,,,,,, +GARD:17142,Active,Orphanet,ORPHA:227535,Disorder,[Disease],Hereditary breast cancer,"[Familial breast cancer, Familial breast carcinoma, Hereditary breast carcinoma]","A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, BRCA2-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.","[612555, 604370, 114480, 613399]",,,,,,,, +GARD:17143,Active,Orphanet,ORPHA:227976,Disorder,[Disease],"Autosomal recessive optic atrophy, OPA7 type",,"A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.",[612989],,,,,,,, +GARD:17144,Active,Orphanet,ORPHA:228003,Disorder,[Disease],Severe combined immunodeficiency due to CORO1A deficiency,"[SCID due to CORO1A deficiency, SCID due to coronin-1A deficiency, Severe combined immunodeficiency due to coronin-1A deficiency]","A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).",[615401],,,,,,,, +GARD:17145,Active,Orphanet,ORPHA:228012,Disorder,[Disease],Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,"[Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome, Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome, Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome]","A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.",[606346],,,,,,,, +GARD:17146,Active,Orphanet,ORPHA:228169,Disorder,[Disease],Autosomal dominant striatal neurodegeneration,[ADSD],"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.",[609161],,,,,,,, +GARD:17147,Active,Orphanet,ORPHA:228179,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2M,[CMT2M],"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.",[606482],,,,,,,, +GARD:17148,Active,Orphanet,ORPHA:228190,Disorder,[Malformation syndrome],Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,[Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome],"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.",[604381],,,,,,,, +GARD:17149,Active,Orphanet,ORPHA:228302,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, myopathic form","[CPT2, adult-onset form, CPT2, myopathic form, CPTII, adult-onset form, CPTII, myopathic form, Carnitine palmitoyl transferase II deficiency, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, myopathic form]","The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).",[255110],,,,,,,, +GARD:1715,Legacy,GARD,,,,,,,,,,,,"Deafness, X-linked, DFN",TRUE,FALSE,Active +GARD:17150,Active,Orphanet,ORPHA:228305,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, severe infantile form","[CPT2, hepatocardiomuscular form, CPT2, severe infantile form, CPTII, hepatocardiomuscular form, CPTII, severe infantile form, Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, severe infantile form]","The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.",[600649],,,,,,,, +GARD:17151,Active,Orphanet,ORPHA:228308,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, neonatal form","[CPT2, lethal systemic form, CPT2, neonatal form, CPTII, lethal systemic form, CPTII, neonatal form, Carnitine palmitoyl transferase II deficiency, lethal systemic form, Carnitine palmitoyl transferase deficiency type 2, lethal systemic form, Carnitine palmitoyl transferase deficiency type 2, neonatal form]","The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.",[608836],,,,,,,, +GARD:17152,Active,Orphanet,ORPHA:228354,Subtype of disorder,[Etiological subtype],CLN8 disease,,,[600143],,,,,,,, +GARD:17153,Active,Orphanet,ORPHA:228374,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B5,"[AR-CMT2B5, Autosomal recessive Charcot-Marie-Tooth disease type 2B5, SEOAN due to NEFL deficiency, Severe early-onset axonal neuropathy due to NEFL deficiency, Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency]","A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.",[607734],,,,,,,, +GARD:17154,Active,Orphanet,ORPHA:228387,Disorder,[Disease],Spondylo-megaepiphyseal-metaphyseal dysplasia,,"Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.",[613330],,,,,,,, +GARD:17155,Active,Orphanet,ORPHA:229717,Disorder,[Disease],Isolated agammaglobulinemia,[Isolated hypogammaglobulinemia],"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.","[613506, 300310, 616941, 613500, 615214, 613501, 300755, 613502, 601495, 612692]",,,,,,,, +GARD:17156,Active,Orphanet,ORPHA:230857,Disorder,[Disease],Ehlers-Danlos/osteogenesis imperfecta syndrome,[EDS/OI syndrome],"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","[619115, 619120]",,,,,,,, +GARD:17157,Active,Orphanet,ORPHA:231031,Disorder,[Disease],Erythema palmare hereditarium,"[Lane disease, Red palms disease]","Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.",[133000],,,,,,,, +GARD:17158,Active,Orphanet,ORPHA:231040,Disorder,[Disease],Familial generalized lentiginosis,"[Familial lentigines profusa, Familial multiple lentigines syndrome without systemic involvement]","Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.",[151001],,,,,,,, +GARD:17159,Active,Orphanet,ORPHA:231108,Subtype of disorder,[Clinical subtype],Familial rhabdoid tumor,"[RTPS, Rhabdoid tumor predisposition syndrome]",,"[613325, 609322]",,,,,,,, +GARD:17160,Active,Orphanet,ORPHA:231120,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to CDKN1C mutation,,,[130650],,,,,,,, +GARD:17161,Active,Orphanet,ORPHA:231160,Disorder,[Disease],Familial cerebral saccular aneurysm,"[Familial berry aneurysm, Familial intracranial saccular aneurysm]","A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.","[609122, 300870, 618734, 608542, 611892, 612161, 612586, 105800, 614252, 612162, 612587, 610213]",,,,,,,, +GARD:17162,Active,Orphanet,ORPHA:231214,Subtype of disorder,[Clinical subtype],Beta-thalassemia major,"[Cooley anemia, Mediterranean anemia]",Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.,[613985],,,,,,,, +GARD:17163,Active,Orphanet,ORPHA:231222,Subtype of disorder,[Clinical subtype],Beta-thalassemia intermedia,,Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.,[613985],,,,,,,, +GARD:17164,Active,Orphanet,ORPHA:231226,Subtype of disorder,[Clinical subtype],Dominant beta-thalassemia,[Inclusion body beta-thalassemia],Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.,[603902],,,,,,,, +GARD:17165,Active,Orphanet,ORPHA:231237,Disorder,[Disease],Delta-beta-thalassemia,,Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.,[141749],,,,,,,, +GARD:17166,Active,Orphanet,ORPHA:231393,Disorder,[Disease],Beta-thalassemia-X-linked thrombocytopenia syndrome,[XLTT],"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.",[314050],,,,,,,, +GARD:17167,Active,Orphanet,ORPHA:231401,Disorder,[Disease],Alpha-thalassemia-myelodysplastic syndrome,"[ATMDS, Acquired HbH disease, Acquired hemoglobin H disease]",An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).,[300448],,,,,,,, +GARD:17168,Active,Orphanet,ORPHA:231500,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-3 deficiency,"[HPS with pulmonary fibrosis, Hermansky-Pudlak syndrome with pulmonary fibrosis]","Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.","[203300, 614073]",,,,,,,, +GARD:17169,Active,Orphanet,ORPHA:231512,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-2 deficiency,"[HPS without pulmonary fibrosis, Hermansky-Pudlak syndrome without pulmonary fibrosis]","Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.","[614072, 614074, 614075]",,,,,,,, +GARD:1717,Legacy,GARD,,,,,,,,,,,,Deal Barratt Dillon syndrome,TRUE,FALSE,Retired +GARD:17170,Active,Orphanet,ORPHA:231531,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-1 deficiency,,,"[614171, 619172, 614076, 614077]",,,,,,,, +GARD:17171,Active,Orphanet,ORPHA:238329,Disorder,[Disease],Severe X-linked mitochondrial encephalomyopathy,"[Mitochondrial encephalomyopathy due to COXPD6, Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6]","Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.",[300816],,,,,,,, +GARD:17172,Active,Orphanet,ORPHA:238446,Disorder,[Malformation syndrome],15q11q13 microduplication syndrome,"[15q11q13 duplication syndrome, Dup(15)(q11q13), Trisomy 15q11q13]","The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.",[608636],,,,,,,, +GARD:17173,Active,Orphanet,ORPHA:238475,Disorder,[Disease],Familial hypercholanemia,[Hereditary hypercholanemia],"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.","[619256, 607748]",,,,,,,, +GARD:17174,Active,Orphanet,ORPHA:238505,Disorder,[Disease],Combined immunodeficiency due to CD27 deficiency,"[Autosomal recessive lymphoproliferative disease due to CD27 deficiency, CD27 deficiency]","A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.",[615122],,,,,,,, +GARD:17175,Active,Orphanet,ORPHA:238523,Disorder,[Disease],Atypical hypotonia-cystinuria syndrome,[Atypical HCS],"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).",[606407],,,,,,,, +GARD:17176,Active,Orphanet,ORPHA:238557,Disorder,[Disease],Chuvash erythrocytosis,"[Chuvash polycythemia, Von Hippel-Lindau-dependent polycythemia]","Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.",[263400],,,,,,,, +GARD:17177,Active,Orphanet,ORPHA:238578,Subtype of disorder,[Etiological subtype],Familial clubfoot due to 17q23.1q23.2 microduplication,[Hereditary clubfoot due to 17q23.1-q23.2 microduplication],17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.,[613618],,,,,,,, +GARD:17178,Active,Orphanet,ORPHA:238613,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to NSD1 mutation,,,[130650],,,,,,,, +GARD:17179,Active,Orphanet,ORPHA:238670,Disorder,[Disease],Isolated thyrotropin-releasing hormone deficiency,"[Isolated TRF deficiency, Isolated TRH deficiency, Isolated TSH-releasing factor deficiency, Isolated prothyroliberin deficiency, Isolated protirelin deficiency, Isolated thyroliberin deficiency, Isolated thyrotropin-releasing factor deficiency]",,[275120],,,,,,,, +GARD:17180,Active,Orphanet,ORPHA:238744,Disorder,[Malformation syndrome],Mammary-digital-nail syndrome,"[MDN syndrome, Onycho-digito-mammary syndrome]","Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.",[613689],,,,,,,, +GARD:17181,Active,Orphanet,ORPHA:238750,Disorder,[Malformation syndrome],4q21 microdeletion syndrome,"[Del(4)(q21), Monosomy 4q21]","The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.",[613509],,,,,,,, +GARD:17182,Active,Orphanet,ORPHA:240071,Subtype of disorder,[Clinical subtype],Classic progressive supranuclear palsy syndrome,"[Classic PSP syndrome, Richardson syndrome, Steele-Richardson-Olszewski disease]","A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.","[601104, 610898, 609454]",,,,,,,, +GARD:17183,Active,Orphanet,ORPHA:240085,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-parkinsonism syndrome,"[PSP-p, PSP-parkinsonism]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.",[260540],,,,,,,, +GARD:17184,Active,Orphanet,ORPHA:240760,Disorder,[Malformation syndrome],Nijmegen breakage syndrome-like disorder,"[Microcephaly and chromosomal instability without immunodeficiency, NBS-like disorder, NBSLD, RAD50 deficiency]","Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.",[613078],,,,,,,, +GARD:17185,Active,Orphanet,ORPHA:243343,Disorder,[Disease],Dimethylglycine dehydrogenase deficiency,"[DMG dehydrogenase deficiency, DMGDH deficiency]",Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.,[605850],,,,,,,, +GARD:17186,Active,Orphanet,ORPHA:244305,Disorder,[Disease],Dominant hypophosphatemia with nephrolithiasis or osteoporosis,,"A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.","[612286, 612287]",,,,,,,, +GARD:17187,Active,Orphanet,ORPHA:247198,Disorder,[Disease],Progressive cerebello-cerebral atrophy,[PCCA],"A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.",[615851],,,,,,,, +GARD:17188,Active,Orphanet,ORPHA:247262,Disorder,[Disease],Hyperphosphatasia-intellectual disability syndrome,[Mabry syndrome],"A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.","[615716, 616025, 614207, 616809, 614749, 239300]",,,,,,,, +GARD:17189,Active,Orphanet,ORPHA:247511,Disorder,[Disease],Autosomal dominant secondary polycythemia,[Autosomal dominant secondary erythrocytosis],"A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.","[611783, 609820]",,,,,,,, +GARD:17190,Active,Orphanet,ORPHA:247522,Disorder,[Disease],Primary ciliary dyskinesia-retinitis pigmentosa syndrome,,"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.",[300455],,,,,,,, +GARD:17191,Active,Orphanet,ORPHA:247623,Subtype of disorder,[Clinical subtype],Perinatal lethal hypophosphatasia,"[Perinatal lethal Rathbun disease, Perinatal lethal phosphoethanolaminuria]","A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.",[241500],,,,,,,, +GARD:17192,Active,Orphanet,ORPHA:247651,Subtype of disorder,[Clinical subtype],Infantile hypophosphatasia,"[Infantile Rathbun disease, Infantile phosphoethanolaminuria]","A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.",[241500],,,,,,,, +GARD:17193,Active,Orphanet,ORPHA:247676,Subtype of disorder,[Clinical subtype],Adult hypophosphatasia,"[Adult Rathbun disease, Adult phosphoethanolaminuria]","A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.",[146300],,,,,,,, +GARD:17194,Active,Orphanet,ORPHA:247685,Subtype of disorder,[Clinical subtype],Odontohypophosphatasia,,"A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.",[146300],,,,,,,, +GARD:17195,Active,Orphanet,ORPHA:247768,Disorder,[Malformation syndrome],Müllerian aplasia and hyperandrogenism,"[Müllerian duct failure and hyperandrogenism, WNT4 deficiency]","A rare syndrome with 46,XX disorder of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.",[158330],,,,,,,, +GARD:17196,Active,Orphanet,ORPHA:247794,Disorder,[Disease],Juvenile cataract-microcornea-renal glucosuria syndrome,[Juvenile cataract-microcornea-renal glycosuria syndrome],"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.",[612018],,,,,,,, +GARD:17197,Active,Orphanet,ORPHA:247806,Subtype of disorder,[Clinical subtype],APC-related attenuated familial adenomatous polyposis,"[APC-related AFAP, APC-related attenuated FAP, APC-related attenuated familial polyposis coli]",,[175100],,,,,,,, +GARD:17198,Active,Orphanet,ORPHA:247820,Disorder,[Malformation syndrome],Ectodermal dysplasia-syndactyly syndrome,"[EDSS, EDSS1]","Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.",[613573],,,,,,,, +GARD:17199,Active,Orphanet,ORPHA:247827,Disorder,[Malformation syndrome],Ectodermal dysplasia-cutaneous syndactyly syndrome,"[EDCS, EDSS2]",,[613576],,,,,,,, +GARD:172,Active,Orphanet,ORPHA:2427,Disorder,[Malformation syndrome],Macrocephaly-short stature-paraplegia syndrome,[Volcke-Soekarman syndrome],"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.",,,,,,Macrocephaly-short stature-paraplegia syndrome,TRUE,FALSE,Active +GARD:1720,Legacy,GARD,,,,,,,,,,,,Defective apolipoprotein B-100,TRUE,FALSE,Active +GARD:17200,Active,Orphanet,ORPHA:247834,Disorder,[Disease],Occult macular dystrophy,"[OCMD, OMD]","Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.",[613587],,,,,,,, +GARD:17201,Active,Orphanet,ORPHA:247868,Disorder,[Disease],NLRP12-associated hereditary periodic fever syndrome,"[FCAS2, Familial cold autoinflammatory syndrome type 2, NAPS12]","NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.",[611762],,,,,,,, +GARD:17202,Active,Orphanet,ORPHA:248408,Subtype of disorder,[Clinical subtype],Familial hypodysfibrinogenemia,,,[616004],,,,,,,, +GARD:17203,Active,Orphanet,ORPHA:250984,Subtype of disorder,[Clinical subtype],Autosomal recessive Stickler syndrome,,"A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.","[614134, 614284]",,,,,,,, +GARD:17204,Active,Orphanet,ORPHA:251028,Subtype of disorder,[Etiological subtype],SATB2-associated syndrome due to a chromosomal rearrangement,"[2q33.1 microdeletion syndrome, Del(2)(q33.1), Monosomy 2q33.1]",,[612313],,,,,,,, +GARD:17205,Active,Orphanet,ORPHA:251279,Disorder,[Disease],Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,[Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome],"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.",[611040],,,,,,,, +GARD:17206,Active,Orphanet,ORPHA:251282,Disorder,[Disease],Autosomal dominant spastic ataxia type 1,[SPAX1],"A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.",[108600],,,,,,,, +GARD:17207,Active,Orphanet,ORPHA:251290,Disorder,[Malformation syndrome],Parietal foramina with clavicular hypoplasia,[Parietal foramina with cleidocranial dysplasia],"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.",[168550],,,,,,,, +GARD:17208,Active,Orphanet,ORPHA:251295,Disorder,[Disease],Pigmented paravenous retinochoroidal atrophy,[PPRCA],"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.",[172870],,,,,,,, +GARD:17209,Active,Orphanet,ORPHA:251347,Disorder,[Disease],Ataxia-telangiectasia-like disorder,[ATLD],"A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.",[604391],,,,,,,, +GARD:17210,Active,Orphanet,ORPHA:251383,Disorder,[Malformation syndrome],CK syndrome,[X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome],"CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.",[300831],,,,,,,, +GARD:17211,Active,Orphanet,ORPHA:251510,Disorder,[Malformation syndrome],"46,XY partial gonadal dysgenesis","[46,XY PGD, 46,XY partial testicular dysgenesis]","46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.","[300018, 612965, 616425, 616067, 154230, 613762, 615542]",,,,,,,, +GARD:17212,Active,Orphanet,ORPHA:251515,Disorder,[Malformation syndrome],Distal arthrogryposis type 10,"[DA10, Plantar flexion contracture, Short Achilles tendon, Short tendo calcaneus]","A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.",[187370],,,,,,,, +GARD:17213,Active,Orphanet,ORPHA:251523,Disorder,[Disease],Hyperzincemia and hypercalprotectinemia,"[Hz/Hc, PAMI syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome]","A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.",[194470],,,,,,,, +GARD:17214,Active,Orphanet,ORPHA:251858,Subtype of disorder,[Histopathological subtype],Medulloblastoma with extensive nodularity,[MBEN],"Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.",[155255],,,,,,,, +GARD:17215,Active,Orphanet,ORPHA:251863,Subtype of disorder,[Histopathological subtype],Desmoplastic/nodular medulloblastoma,,"Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.",[155255],,,,,,,, +GARD:17216,Active,Orphanet,ORPHA:251867,Subtype of disorder,[Histopathological subtype],Classic medulloblastoma,,"Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.",[155255],,,,,,,, +GARD:17217,Active,Orphanet,ORPHA:252202,Disorder,[Disease],Constitutional mismatch repair deficiency syndrome,[CMMR-D syndrome],"Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.","[276300, 619096, 619097, 619101]",,,,,,,, +GARD:17218,Active,Orphanet,ORPHA:254351,Disorder,[Malformation syndrome],Distal 7q11.23 microdeletion syndrome,"[Distal del(7)(q11.23), Distal monosomy 7q11.23]","Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).",[613729],,,,,,,, +GARD:17219,Active,Orphanet,ORPHA:254519,Disorder,[Malformation syndrome],Kagami-Ogata syndrome,[KOS],"Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.",[608149],,,,,,,, +GARD:1722,Active,Orphanet,ORPHA:315,Disorder,[Disease],Erythrokeratoderma ''en cocardes'',"[Degos genodermatosis ""en cocardes""]","A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.",,,,,,Erythrokeratoderma ''en cocardes'',TRUE,FALSE,Active +GARD:17220,Active,Orphanet,ORPHA:254525,Subtype of disorder,[Etiological subtype],Temple syndrome due to paternal 14q32.2 microdeletion,[Paternal del(14)(q32.2)],,[616222],,,,,,,, +GARD:17221,Active,Orphanet,ORPHA:254528,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,"[Maternal del(14)(q32.2), Maternal monosomy 14q32.2]",,[608149],,,,,,,, +GARD:17222,Active,Orphanet,ORPHA:254531,Subtype of disorder,[Etiological subtype],Temple syndrome due to paternal 14q32.2 hypomethylation,,,[616222],,,,,,,, +GARD:17223,Active,Orphanet,ORPHA:254534,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,,,[608149],,,,,,,, +GARD:17224,Active,Orphanet,ORPHA:254688,Subtype of disorder,[Clinical subtype],Complete hydatidiform mole,[Complete molar pregnancy],"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.","[614293, 618432, 231090, 618431]",,,,,,,, +GARD:17225,Active,Orphanet,ORPHA:254803,Group of disorders,[Clinical group],"Mitochondrial DNA depletion syndrome, encephalomyopathic form","[mtDNA depletion syndrome, encephalomyopathic form]","Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.","[612073, 612075]",,,,,,,, +GARD:17226,Active,Orphanet,ORPHA:254857,Disorder,[Disease],Lethal infantile mitochondrial myopathy,"[LIMD, LIMM, Lethal infantile mitochondrial disease]","Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.",[551000],,,,,,,, +GARD:17227,Active,Orphanet,ORPHA:254864,Disorder,[Disease],Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,"[Benign COX deficiency, Infantile reversible cytochrome C oxidase deficiency myopathy, Mitochondrial myopathy with reversible COX deficiency, Mitochondrial myopathy with reversible complex IV deficiency, Reversible infantile cytochrome C oxidase deficiency, Reversible infantile respiratory chain deficiency]","A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.",[500009],,,,,,,, +GARD:17228,Active,Orphanet,ORPHA:254875,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, myopathic form","[mtDNA depletion syndrome, myopathic form]","A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.","[609560, 618972]",,,,,,,, +GARD:17229,Active,Orphanet,ORPHA:254881,Disorder,[Disease],Spinocerebellar ataxia with epilepsy,"[MSCAE, Mitochondrial spinocerebellar ataxia with epilepsy, SCAE]","Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.",[607459],,,,,,,, +GARD:17230,Active,Orphanet,ORPHA:254898,Disorder,[Disease],Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,[Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome],"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.",[614651],,,,,,,, +GARD:17231,Active,Orphanet,ORPHA:254902,Disorder,[Disease],Renal tubulopathy-encephalopathy-liver failure syndrome,,Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.,[124000],,,,,,,, +GARD:17232,Active,Orphanet,ORPHA:254920,Disorder,[Disease],Combined oxidative phosphorylation defect type 2,[COXPD2],"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.",[610498],,,,,,,, +GARD:17233,Active,Orphanet,ORPHA:254925,Disorder,[Disease],Combined oxidative phosphorylation defect type 4,[COXPD4],"Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.",[610678],,,,,,,, +GARD:17234,Active,Orphanet,ORPHA:254930,Disorder,[Disease],Combined oxidative phosphorylation defect type 7,"[COXPD7, Severe C12ORF65-related COXPD, Severe C12ORF65-related combined oxidative phosphorylation defect]","Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.",[613559],,,,,,,, +GARD:17235,Active,Orphanet,ORPHA:255132,Disorder,[Disease],Adult-onset autosomal recessive sideroblastic anemia,[GLRX5-related sideroblastic anemia],A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.,[616860],,,,,,,, +GARD:17236,Active,Orphanet,ORPHA:255138,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E1-beta deficiency,"[PDHBD, Pyruvate dehydrogenase complex E1 component subunit beta deficiency]","Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.",[614111],,,,,,,, +GARD:17237,Active,Orphanet,ORPHA:255182,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E3-binding protein deficiency,"[2-oxoglutarate complex deficiency, Branched chain alpha-ketoacid dehydrogenase complex deficiency, Diaphorase deficiency, Dihydrolipoyl dehydrogenase deficiency, Glycine cleavage system L protein deficiency, Lipoamide dehydrogenase deficiency, Pyruvate dehydrogenase complex component E3 deficiency, Pyruvate dehydrogenase protein X component deficiency]","Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.",[245349],,,,,,,, +GARD:17238,Active,Orphanet,ORPHA:255241,Disorder,[Disease],Leigh syndrome with leukodystrophy,"[Infantile subacute necrotizing encephalopathy with leukodystrophy, Leigh disease with leukodystrophy]",,"[618249, 618228, 618243, 618235, 618229, 618222, 256000, 618244, 616277, 618230, 618224, 252010, 618239, 618233, 618225, 618240, 618226, 618241, 618248, 618257]",,,,,,,, +GARD:17239,Active,Orphanet,ORPHA:255249,Disorder,[Disease],Leigh syndrome with nephrotic syndrome,"[Infantile subacute necrotizing encephalopathy with nephrotic syndrome, Leigh disease with nephrotic syndrome]","A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.","[607426, 614652]",,,,,,,, +GARD:17240,Active,Orphanet,ORPHA:260305,Disorder,[Disease],Autosomal recessive sideroblastic anemia,"[ARSA, Congenital sideroblastic anemia]","Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.","[205950, 182170]",,,,,,,, +GARD:17241,Active,Orphanet,ORPHA:261120,Disorder,[Malformation syndrome],14q11.2 microdeletion syndrome,"[Del(14)(q11.2), Monosomy 14q11.2]","14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.",[613457],,,,,,,, +GARD:17242,Active,Orphanet,ORPHA:261190,Disorder,[Malformation syndrome],15q14 microdeletion syndrome,"[Del(15)(q14), Monosomy 15q14]","15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.",[616898],,,,,,,, +GARD:17243,Active,Orphanet,ORPHA:261211,Disorder,[Malformation syndrome],16p11.2p12.2 microdeletion syndrome,"[Del(16)(p11.2p12.2), Monosomy 16p11.2p12.2]",16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.,[613604],,,,,,,, +GARD:17244,Active,Orphanet,ORPHA:261222,Disorder,[Malformation syndrome],Distal 16p11.2 microdeletion syndrome,"[Distal del(16)(p11.2), Distal monosomy 16p11.2]","Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.",[613444],,,,,,,, +GARD:17245,Active,Orphanet,ORPHA:261330,Disorder,[Malformation syndrome],Distal 22q11.2 microdeletion syndrome,"[Distal del(22)(q11.2), Distal monosomy 22q11.2]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .",[611867],,,,,,,, +GARD:17246,Active,Orphanet,ORPHA:261476,Disorder,[Disease],Xp21 deletion syndrome,"[Complex GKD, Complex glycerol kinase deficiency, Del(X)(p21), Xp21 contiguous gene deletion syndrome, Xp21 microdeletion syndrome]","A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.",[300679],,,,,,,, +GARD:17247,Active,Orphanet,ORPHA:261483,Disorder,[Malformation syndrome],Xq27.3q28 duplication syndrome,"[Dup(X)(q27.3q28), Trisomy Xq27.3-q28, Trisomy Xq27.3q28, Xq27.3-q28 microduplication syndrome]","Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.",[300869],,,,,,,, +GARD:17248,Active,Orphanet,ORPHA:261537,Subtype of disorder,[Etiological subtype],Mowat-Wilson syndrome due to monosomy 2q22,"[Hirschsprung disease and intellectual disability due to 2q22 microdeletion, Hirschsprung disease and intellectual disability due to del(2)(q22), Hirschsprung disease and intellectual disability due to monosomy 2q22, Mowat-Wilson syndrome due to 2q22 microdeletion, Mowat-Wilson syndrome due to del(2)q(22)]",,[235730],,,,,,,, +GARD:17249,Active,Orphanet,ORPHA:261552,Subtype of disorder,[Etiological subtype],Mowat-Wilson syndrome due to a ZEB2 point mutation,[Hirschsprung disease and intellectual disability due to a ZEB2 point mutation],,[235730],,,,,,,, +GARD:17250,Active,Orphanet,ORPHA:261600,Subtype of disorder,[Etiological subtype],Alagille syndrome due to 20p12 microdeletion,"[Alagille syndrome due to del(20)(p12), Alagille syndrome due to monosomy 20p12, Alagille-Watson syndrome due to monosomy 20p12, Arteriohepatic dysplasia due to monosomy 20p12, Syndromic bile duct paucity due to monosomy 20p12]",,[118450],,,,,,,, +GARD:17251,Active,Orphanet,ORPHA:261619,Subtype of disorder,[Etiological subtype],Alagille syndrome due to a JAG1 point mutation,"[Alagille-Watson syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia due to a JAG1 point mutation, Syndromic bile duct paucity due to a JAG1 point mutation]",,[118450],,,,,,,, +GARD:17252,Active,Orphanet,ORPHA:261629,Subtype of disorder,[Etiological subtype],Alagille syndrome due to a NOTCH2 point mutation,"[Alagille-Watson syndrome due to a NOTCH2 point mutation, Arteriohepatic dysplasia due to a NOTCH2 point mutation, Syndromic bile duct paucity due to a NOTCH2 point mutation]",,[610205],,,,,,,, +GARD:17253,Active,Orphanet,ORPHA:261652,Subtype of disorder,[Etiological subtype],Kleefstra syndrome due to a point mutation,,,"[617768, 610253]",,,,,,,, +GARD:17254,Active,Orphanet,ORPHA:263297,Disorder,[Disease],Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,"[GSD type 15, GSD type XV, GSD with severe cardiomyopathy due to glycogenin deficiency, Glycogen storage disease type 15, Glycogen storage disease type XV, Glycogenosis type 15, Glycogenosis type XV, Glycogenosis with severe cardiomyopathy due to glycogenin deficiency]","Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.",[613507],,,,,,,, +GARD:17255,Active,Orphanet,ORPHA:263347,Disorder,[Disease],MRCS syndrome,[Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome],"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","[619082, 193220]",,,,,,,, +GARD:17256,Active,Orphanet,ORPHA:263458,Disorder,[Disease],Hyperinsulinism due to INSR deficiency,"[Hyperinsulinemic hypoglycemia due to INSR deficiency, Hyperinsulinemic hypoglycemia due to insulin receptor deficiency]","Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.",[609968],,,,,,,, +GARD:17257,Active,Orphanet,ORPHA:263524,Disorder,[Disease],Acute necrotizing encephalopathy of childhood,"[ANEC, Isolated ANE, Isolated acute necrotizing encephalopathy]","A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.",[614212],,,,,,,, +GARD:17258,Active,Orphanet,ORPHA:263548,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type A,"[Generalized deciduous skin type A, Generalized peeling skin syndrome type A, Non-inflammatory generalized peeling skin syndrome type A., Non-inflammatory peeling skin syndrome type A, PSS type A]","Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.","[616265, 618084]",,,,,,,, +GARD:17259,Active,Orphanet,ORPHA:263553,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type B,"[Generalized deciduous skin type B, Generalized peeling skin syndrome type B, Inflammatory peeling skin syndrome, PSS type B]","Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.",[270300],,,,,,,, +GARD:17260,Active,Orphanet,ORPHA:263662,Disorder,[Disease],Familial multiple meningioma,,"Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.",[607174],,,,,,,, +GARD:17261,Active,Orphanet,ORPHA:264580,Disorder,[Disease],Glycogen storage disease due to liver phosphorylase kinase deficiency,"[GSD due to liver phosphorylase kinase deficiency, GSD type 9A, GSD type 9C, GSD type IXa, GSD type IXc, Glycogen storage disease type 9A, Glycogen storage disease type 9C, Glycogen storage disease type IXa, Glycogen storage disease type IXc, Glycogenosis due to liver phosphorylase kinase deficiency, Glycogenosis type 9A, Glycogenosis type 9C, Glycogenosis type IXa, Glycogenosis type IXc, XLG]","Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.","[613027, 306000]",,,,,,,, +GARD:17262,Active,Orphanet,ORPHA:268114,Disorder,[Disease],RAS-associated autoimmune leukoproliferative disease,[RALD],"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.",[614470],,,,,,,, +GARD:17263,Active,Orphanet,ORPHA:268145,Subtype of disorder,[Clinical subtype],Classic maple syrup urine disease,"[Classic BCKD deficiency, Classic MSUD, Classic branched-chain alpha-ketoacid dehydrogenase deficiency, Classic branched-chain ketoaciduria]","Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.",[248600],,,,,,,, +GARD:17264,Active,Orphanet,ORPHA:268162,Subtype of disorder,[Clinical subtype],Intermediate maple syrup urine disease,"[Intermediate BCKD deficiency, Intermediate MSUD, Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency]","Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.","[248600, 615135]",,,,,,,, +GARD:17265,Active,Orphanet,ORPHA:268173,Subtype of disorder,[Clinical subtype],Intermittent maple syrup urine disease,"[Intermittent BCKD deficiency, Intermittent MSUD, Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency]","Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.",[248600],,,,,,,, +GARD:17266,Active,Orphanet,ORPHA:268184,Subtype of disorder,[Clinical subtype],Thiamine-responsive maple syrup urine disease,"[Thiamine-responsive BCKD deficiency, Thiamine-responsive MSUD, Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency]",Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.,[248600],,,,,,,, +GARD:17267,Active,Orphanet,ORPHA:268322,Disorder,[Disease],Hereditary thrombocytopenia with normal platelets,,"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.","[273900, 612004, 313900, 188000]",,,,,,,, +GARD:17268,Active,Orphanet,ORPHA:268357,Group of disorders,[Category],Neural tube closure defect,,,"[601634, 301410, 182940]",,,,,,,, +GARD:17269,Active,Orphanet,ORPHA:268940,Disorder,[Morphological anomaly],Bilateral polymicrogyria,,"Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.","[615752, 606854, 612691, 616531, 300388]",,,,,,,, +GARD:1727,Active,Orphanet,ORPHA:3034,Disorder,[Malformation syndrome],Delayed membranous cranial ossification,[Gonzales-del Angel syndrome],"Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.",[155980],,,,,Delayed membranous cranial ossification,TRUE,FALSE,Active +GARD:17270,Active,Orphanet,ORPHA:269001,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type IIa,[FCD type IIa],,[607341],,,,,,,, +GARD:17271,Active,Orphanet,ORPHA:269008,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type IIb,[FCD type IIb],,[607341],,,,,,,, +GARD:17272,Active,Orphanet,ORPHA:269510,Subtype of disorder,[Clinical subtype],Congenital non-communicating hydrocephalus,[Congenital obstructive hydrocephalus],,[236600],,,,,,,, +GARD:17273,Active,Orphanet,ORPHA:275872,Disorder,[Disease],Frontotemporal dementia with motor neuron disease,"[FTD-ALS, FTD-MND, Frontotemporal dementia with amyotrophic lateral sclerosis]","Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.","[612069, 619133, 616439, 613954, 608030, 616437, 619141, 615911, 105550]",,,,,,,, +GARD:17274,Active,Orphanet,ORPHA:276148,Disorder,[Disease],Benign epithelial tumor of salivary glands,,"Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.",[181030],,,,,,,, +GARD:17275,Active,Orphanet,ORPHA:276152,Disorder,[Disease],Multiple endocrine neoplasia type 4,[MEN4],"Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.",[610755],,,,,,,, +GARD:17276,Active,Orphanet,ORPHA:276183,Disorder,[Disease],Spinocerebellar ataxia type 32,"[Cerebellar ataxia with azoospermia and intellectual disability, SCA32]",An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.,[613909],,,,,,,, +GARD:17277,Active,Orphanet,ORPHA:276234,Disorder,[Disease],Non-syndromic male infertility due to sperm motility disorder,[Non-syndromic male infertility due asthenozoospermia],"Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.","[618751, 606766, 618664, 618643, 618745, 617576, 617592, 618433, 612997, 618152, 617593, 618153, 617965, 618429, 614822, 618670]",,,,,,,, +GARD:17278,Active,Orphanet,ORPHA:276399,Disorder,[Disease],Familial multinodular goiter,"[FMNG, Familial MNG, Familial multinodular goiter syndrome]",,[138800],,,,,,,, +GARD:17279,Active,Orphanet,ORPHA:276405,Disorder,[Disease],Hyperbiliverdinemia,[Green jaundice],"Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.",[614156],,,,,,,, +GARD:17280,Active,Orphanet,ORPHA:276413,Disorder,[Malformation syndrome],10q22.3q23.3 microdeletion syndrome,"[Del(10)(q22.3q23.3), Deletion 10q22.3q23.3, Monosomy 10q22.3q23.3]","10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.",[612242],,,,,,,, +GARD:17281,Active,Orphanet,ORPHA:276432,Disorder,[Malformation syndrome],Ogden syndrome,[Premature aging appearance-developmental delay-cardiac arrhythmia syndrome],"Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.",[300855],,,,,,,, +GARD:17282,Active,Orphanet,ORPHA:276435,Disorder,[Disease],Lower motor neuron syndrome with late-adult onset,"[LOSMoN, Late-onset spinal motor neuronopathy, SMAJ, Spinal muscular atrophy, Jokela type]","A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.",[615048],,,,,,,, +GARD:17283,Active,Orphanet,ORPHA:276575,Disorder,[Disease],Autosomal dominant hyperinsulinism due to SUR1 deficiency,[Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency],"A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.",[256450],,,,,,,, +GARD:17284,Active,Orphanet,ORPHA:276580,Disorder,[Disease],Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,"[Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, Dominant KATP hyperinsulinism due to Kir6.2 deficiency]","A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).",[601820],,,,,,,, +GARD:17285,Active,Orphanet,ORPHA:276598,Disorder,[Disease],Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,"[Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form]","A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.",[256450],,,,,,,, +GARD:17286,Active,Orphanet,ORPHA:276603,Disorder,[Disease],Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,"[Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form]","A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.",[601820],,,,,,,, +GARD:17287,Active,Orphanet,ORPHA:279943,Disorder,[Disease],Hereditary neutrophilia,,"A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.",[162830],,,,,,,, +GARD:17288,Active,Orphanet,ORPHA:280142,Disorder,[Disease],Severe combined immunodeficiency due to LCK deficiency,"[SCID due to LCK deficiency, SCID due to lymphocyte-specific protein tyrosine kinase deficiency, Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency]","A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.",[615758],,,,,,,, +GARD:17289,Active,Orphanet,ORPHA:280195,Subtype of disorder,[Clinical subtype],Septopreoptic holoprosencephaly,[Septopreoptic HPE],"A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.","[609637, 610829, 157170]",,,,,,,, +GARD:17290,Active,Orphanet,ORPHA:280200,Disorder,[Malformation syndrome],Microform holoprosencephaly,"[HPE, minor form, HPE-L, Holoprosencephaly, minor form, Holoprosencephaly-like, Microform HPE]","A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.","[609637, 610829, 147250, 157170]",,,,,,,, +GARD:17291,Active,Orphanet,ORPHA:280210,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, connatal form","[Connatal PMD, Pelizaeus-Merzbacher disease type II, Severe PMD]",The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).,[312080],,,,,,,, +GARD:17292,Active,Orphanet,ORPHA:280234,Subtype of disorder,[Clinical subtype],Null syndrome,"[PLP1 null syndrome, Pelizaeus-Merzbacher disease, null syndrome]",The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.,[312080],,,,,,,, +GARD:17293,Active,Orphanet,ORPHA:280282,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to GJC2 mutation,[PMLD1],,[608804],,,,,,,, +GARD:17294,Active,Orphanet,ORPHA:280288,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,[Mitochondrial HSP60 chaperonopathy],,[612233],,,,,,,, +GARD:17295,Active,Orphanet,ORPHA:280406,Disorder,[Disease],Familial steroid-resistant nephrotic syndrome with sensorineural deafness,[Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss],"Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.",[614650],,,,,,,, +GARD:17296,Active,Orphanet,ORPHA:280553,Disorder,[Disease],Fatal infantile hypertonic myofibrillar myopathy,,"Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.",[613869],,,,,,,, +GARD:17297,Active,Orphanet,ORPHA:280615,Disorder,[Disease],Hemoglobinopathy Toms River,[Transient neonatal cyanosis and anemia due to Toms River Hemoglobin],"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.",[613977],,,,,,,, +GARD:17298,Active,Orphanet,ORPHA:280628,Disorder,[Disease],Familial progressive hyper- and hypopigmentation,[FPHH],"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.",[145250],,,,,,,, +GARD:17299,Active,Orphanet,ORPHA:280640,Disorder,[Malformation syndrome],Occipital pachygyria and polymicrogyria,"[Occipital MCD, Occipital malformations of cortical development]","Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.",[614115],,,,,,,, +GARD:173,Legacy,GARD,,,,,,,,,,,,"Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance",TRUE,FALSE,Active +GARD:17300,Active,Orphanet,ORPHA:280651,Disorder,[Disease],Acrodysostosis with multiple hormone resistance,,,"[614613, 101800]",,,,,,,, +GARD:17301,Active,Orphanet,ORPHA:280679,Disorder,[Disease],Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,[Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism],"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.",[300845],,,,,,,, +GARD:17302,Active,Orphanet,ORPHA:281090,Disorder,[Disease],Syndromic recessive X-linked ichthyosis,"[Recessive X-linked ichthyosis with extracutaneous manifestations, Syndromic RXLI]",Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.,[308100],,,,,,,, +GARD:17303,Active,Orphanet,ORPHA:281122,Disorder,[Disease],Self-improving collodion baby,"[SHCB, SICI, Self-healing collodion baby, Self-improving congenital ichthyosis]",Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.,"[242300, 606545, 242100]",,,,,,,, +GARD:17304,Active,Orphanet,ORPHA:281139,Disorder,[Disease],Annular epidermolytic ichthyosis,[AEI],A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.,[607602],,,,,,,, +GARD:17305,Active,Orphanet,ORPHA:281190,Disorder,[Disease],Congenital reticular ichthyosiform erythroderma,"[CRIE, IWC, Ichthyosis variegata, Ichthyosis with confetti]",,[609165],,,,,,,, +GARD:17306,Active,Orphanet,ORPHA:281201,Disorder,[Disease],Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,[KLICK syndrome],"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.",[601952],,,,,,,, +GARD:17307,Active,Orphanet,ORPHA:282166,Disorder,[Disease],Inherited Creutzfeldt-Jakob disease,[Inherited CJD],"A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.",[123400],,,,,,,, +GARD:17308,Active,Orphanet,ORPHA:284139,Disorder,[Malformation syndrome],"Larsen-like syndrome, B3GAT3 type",[Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome],"Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.",[245600],,,,,,,, +GARD:17309,Active,Orphanet,ORPHA:284149,Disorder,[Malformation syndrome],Craniosynostosis-dental anomalies,[Kreiborg-Pakistani syndrome],"Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.",[614188],,,,,,,, +GARD:17310,Active,Orphanet,ORPHA:284160,Disorder,[Malformation syndrome],8q21.11 microdeletion syndrome,"[Del(8)(q21.11), Deletion 8q21.11, Monosomy 8q21.11]","8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.",[614230],,,,,,,, +GARD:17311,Active,Orphanet,ORPHA:284169,Subtype of disorder,[Clinical subtype],Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,"[10p12p11 microdeletion syndrome, Del(10)(p11.21p12.31), Deletion 10p11.21p12.31, Monosomy 10p11.21p12.31]","Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.",[616708],,,,,,,, +GARD:17312,Active,Orphanet,ORPHA:284271,Disorder,[Disease],Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,"[Autosomal recessive spinocerebellar ataxia type 11, SCAR11]","A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.",[614229],,,,,,,, +GARD:17313,Active,Orphanet,ORPHA:284282,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,"[Autosomal recessive spinocerebellar ataxia type 12, SCAR12]","A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.",[614322],,,,,,,, +GARD:17314,Active,Orphanet,ORPHA:284289,Disorder,[Disease],Adult-onset autosomal recessive cerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 10, SCAR10]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.",[613728],,,,,,,, +GARD:17315,Active,Orphanet,ORPHA:284339,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 7,"[PCH7, Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome]","Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.",[614969],,,,,,,, +GARD:17316,Active,Orphanet,ORPHA:284411,Subtype of disorder,[Clinical subtype],"Glycerol kinase deficiency, juvenile form",,"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.",[307030],,,,,,,, +GARD:17317,Active,Orphanet,ORPHA:284414,Subtype of disorder,[Clinical subtype],"Glycerol kinase deficiency, adult form",,A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.,[307030],,,,,,,, +GARD:17318,Active,Orphanet,ORPHA:284973,Subtype of disorder,[Clinical subtype],Marfan syndrome type 2,[MFS2],,[610168],,,,,,,, +GARD:17319,Active,Orphanet,ORPHA:289157,Disorder,[Disease],Hypocalcemic vitamin D-dependent rickets,"[1-alpha-hydroxylase deficiency, PDDRI, Pseudovitamin D-deficient rickets, VDDI, VDDR-I, Vitamin D dependent rickets type I, Vitamin D-dependency type I]","An early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.","[264700, 600081]",,,,,,,, +GARD:1732,Legacy,GARD,,,,,,,,,,,,Chromosome 11p deletion,TRUE,FALSE,Active +GARD:17320,Active,Orphanet,ORPHA:289176,Disorder,[Disease],Autosomal recessive hypophosphatemic rickets,[ARHR],"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","[241520, 613312]",,,,,,,, +GARD:17321,Active,Orphanet,ORPHA:289290,Disorder,[Disease],Hypermethioninemia encephalopathy due to adenosine kinase deficiency,"[ADK hypermethioninemia, Hypermethioninemia encephalopathy due to ADK deficiency]","Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.",[614300],,,,,,,, +GARD:17322,Active,Orphanet,ORPHA:289307,Disorder,[Disease],Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,"[Developmental delay due to ALDH6A1 deficiency, Developmental delay due to MMSDH deficiency]","Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.",[614105],,,,,,,, +GARD:17323,Active,Orphanet,ORPHA:289365,Disorder,[Malformation syndrome],Familial vesicoureteral reflux,[Familial VUR],"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","[614319, 615390, 610878, 193000, 613674, 614317, 614318, 615963]",,,,,,,, +GARD:17324,Active,Orphanet,ORPHA:289377,Disorder,[Disease],Early-onset myopathy with fatal cardiomyopathy,"[EOMFC, Salih myopathy]","A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.",[611705],,,,,,,, +GARD:17325,Active,Orphanet,ORPHA:289380,Disorder,[Disease],Myosclerosis,"[Congenital myosclerosis, Löwenthal type]","Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.",[255600],,,,,,,, +GARD:17326,Active,Orphanet,ORPHA:289483,Disorder,[Disease],Intellectual disability-alacrima-achalasia syndrome,,"Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.",[300858],,,,,,,, +GARD:17327,Active,Orphanet,ORPHA:289499,Disorder,[Malformation syndrome],Congenital cataract microcornea with corneal opacity,[CCMCO],,[269400],,,,,,,, +GARD:17328,Active,Orphanet,ORPHA:289553,Disorder,[Malformation syndrome],Dysmorphism-conductive hearing loss-heart defect syndrome,,"Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.",[615102],,,,,,,, +GARD:17329,Active,Orphanet,ORPHA:289586,Disorder,[Disease],Exfoliative ichthyosis,"[Autosomal recessive exfoliative ichthyosis, Ichthyosis exfoliativa]","Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","[617115, 607936]",,,,,,,, +GARD:17330,Active,Orphanet,ORPHA:289846,Subtype of disorder,[Clinical subtype],Glutathione synthetase deficiency with 5-oxoprolinuria,,,[266130],,,,,,,, +GARD:17331,Active,Orphanet,ORPHA:289849,Subtype of disorder,[Clinical subtype],Glutathione synthetase deficiency without 5-oxoprolinuria,,,[231900],,,,,,,, +GARD:17332,Active,Orphanet,ORPHA:289857,Subtype of disorder,[Clinical subtype],Neonatal glycine encephalopathy,"[Classic glycine encephalopathy, Neonatal NKH, Neonatal non-ketotic hyperglycinemia]","Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.",[605899],,,,,,,, +GARD:17333,Active,Orphanet,ORPHA:289860,Subtype of disorder,[Clinical subtype],Infantile glycine encephalopathy,"[Infantile NKH, Infantile non-ketotic hyperglycinemia]","Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.",[605899],,,,,,,, +GARD:17334,Active,Orphanet,ORPHA:289863,Subtype of disorder,[Clinical subtype],Atypical glycine encephalopathy,"[Atypical NKA, Atypical non-ketotic hyperglycinemia]",A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.,"[605899, 617301]",,,,,,,, +GARD:17335,Active,Orphanet,ORPHA:289916,Subtype of disorder,[Clinical subtype],Vitamin B12-unresponsive methylmalonic acidemia type mut0,"[Complete deficiency of methylmalonyl-CoA mutase, Vitamin B12-unresponsive methylmalonic aciduria type mut0]","Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.",[251000],,,,,,,, +GARD:17336,Active,Orphanet,ORPHA:293144,Subtype of disorder,[Etiological subtype],Familial clubfoot due to 5q31 microdeletion,[Hereditary clubfoot due to 5q31 microdeletion],,[119800],,,,,,,, +GARD:17337,Active,Orphanet,ORPHA:293150,Subtype of disorder,[Etiological subtype],Familial clubfoot due to PITX1 point mutation,[Hereditary clubfoot due to PITX1 point mutation],,[119800],,,,,,,, +GARD:17338,Active,Orphanet,ORPHA:293381,Disorder,[Disease],Epithelial recurrent erosion dystrophy,"[Dystrophia Helsinglandica, Dystrophia Smolandiensis, ERED, Recurrent hereditary corneal erosions]","Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.",[122400],,,,,,,, +GARD:17339,Active,Orphanet,ORPHA:293621,Disorder,[Disease],X-linked endothelial corneal dystrophy,[XECD],"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.",[300779],,,,,,,, +GARD:17340,Active,Orphanet,ORPHA:293633,Subtype of disorder,[Etiological subtype],PYCR1-related De Barsy syndrome,"[PYCR1 deficiency, Pyrroline-5-carboxylate reductase 1 deficiency]",,[614438],,,,,,,, +GARD:17341,Active,Orphanet,ORPHA:293707,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, MKB type","[BMRS, MKB type, BMRS, Maat-Kievit-Brunner type, Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type, X-linked Ohdo syndrome]","A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.",[300895],,,,,,,, +GARD:17342,Active,Orphanet,ORPHA:293725,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, Verloes type","[BMRS type V, BMRS, Verloes type, Blepharophimosis-intellectual disability syndrome type V]","Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.",[604314],,,,,,,, +GARD:17343,Active,Orphanet,ORPHA:293822,Disorder,[Disease],MITF-related melanoma and renal cell carcinoma predisposition syndrome,,"MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.",[614456],,,,,,,, +GARD:17344,Active,Orphanet,ORPHA:293825,Disorder,[Disease],Congenital dyserythropoietic anemia type IV,"[CDA IV, CDA due to KLF1 mutation, CDA type 4, CDA type IV, CDAN4, Congenital dyserythropoietic anemia due to KLF1 mutation, Congenital dyserythropoietic anemia type 4]",Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.,[613673],,,,,,,, +GARD:17345,Active,Orphanet,ORPHA:293888,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, left dominant form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form]",,"[610193, 107970]",,,,,,,, +GARD:17346,Active,Orphanet,ORPHA:293899,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, biventricular form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form]",,"[610193, 107970]",,,,,,,, +GARD:17347,Active,Orphanet,ORPHA:293910,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, right dominant form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form, Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, Familial isolated arrhythmogenic ventricular dysplasia, classic form]",,"[610193, 615616, 600996, 107970, 618920]",,,,,,,, +GARD:17348,Active,Orphanet,ORPHA:293925,Disorder,[Malformation syndrome],Lethal occipital encephalocele-skeletal dysplasia syndrome,,"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.",[614416],,,,,,,, +GARD:17349,Active,Orphanet,ORPHA:293936,Disorder,[Disease],EDICT syndrome,"[Autosomal dominant keratoconus with early-onset anterior polar cataracts, Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome, Familial keratoconus with cataract, KTCNCT]","A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.",[614303],,,,,,,, +GARD:1735,Legacy,GARD,,,,,,,,,,,,Chromosome 11q deletion,TRUE,FALSE,Active +GARD:17350,Active,Orphanet,ORPHA:293939,Disorder,[Malformation syndrome],Distal Xq28 microduplication syndrome,"[Distal dup(X)q(28), Distal trisomy Xq28, Int22h1/Int22h2 mediated-Xq28 microduplication syndrome]","A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.",[300815],,,,,,,, +GARD:17351,Active,Orphanet,ORPHA:293958,Disorder,[Malformation syndrome],Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,"[HPPD, Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome]","Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.",[614187],,,,,,,, +GARD:17352,Active,Orphanet,ORPHA:293964,Disorder,[Disease],Hypoinsulinemic hypoglycemia and body hemihypertrophy,,"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.",[240900],,,,,,,, +GARD:17353,Active,Orphanet,ORPHA:293978,Disorder,[Disease],Deficiency in anterior pituitary function-variable immunodeficiency syndrome,[DAVID syndrome],"Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.",[615577],,,,,,,, +GARD:17354,Active,Orphanet,ORPHA:294016,Disorder,[Malformation syndrome],Microcephaly-capillary malformation syndrome,"[MIC-CAP syndrome, MIC-CM syndrome, Microcephaly-cutaneous capillary malformation syndrome]","Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.",[614261],,,,,,,, +GARD:17355,Active,Orphanet,ORPHA:294023,Disorder,[Disease],Neonatal inflammatory skin and bowel disease,,"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","[616069, 614328]",,,,,,,, +GARD:17356,Active,Orphanet,ORPHA:294415,Disorder,[Malformation syndrome],Renal-hepatic-pancreatic dysplasia,"[Ivemark II syndrome, Renohepaticopancreatic dysplasia]","Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.","[615415, 208540]",,,,,,,, +GARD:17357,Active,Orphanet,ORPHA:295187,Subtype of disorder,[Clinical subtype],Zygodactyly type 1,"[SD1, Weidenreich type, SD1a, Syndactyly type 1, Weidenreich type, Syndactyly type 1a, Zygodactyly, Weidenreich type]",,[609815],,,,,,,, +GARD:17358,Active,Orphanet,ORPHA:295195,Subtype of disorder,[Clinical subtype],Synpolydactyly type 1,"[SD2, Vordingborg type, SD2a, SPD, Vordingborg type, SPD1, Synpolydactyly, Vordingborg type]",,[186000],,,,,,,, +GARD:17359,Active,Orphanet,ORPHA:295197,Subtype of disorder,[Clinical subtype],Synpolydactyly type 2,"[SD2, Debeer type, SD2b, SPD, Debeer type, SPD2, Synpolydactyly, Debeer type]",,[608180],,,,,,,, +GARD:17360,Active,Orphanet,ORPHA:295199,Subtype of disorder,[Clinical subtype],Synpolydactyly type 3,"[SD2, Malik type, SD2c, SPD, Malik type, SPD3, Synpolydactyly, Malik type]",,[610234],,,,,,,, +GARD:17361,Active,Orphanet,ORPHA:300179,Subtype of disorder,[Clinical subtype],Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,"[Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness, Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss, FKBP14-related EDS, FKBP22-deficient EDS, Kyphoscoliotic EDS due to FKBP22 deficiency, kEDS-FKBP14]","A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.",[614557],,,,,,,, +GARD:17362,Active,Orphanet,ORPHA:300284,Disorder,[Disease],Connective tissue disorder due to lysyl hydroxylase-3 deficiency,"[Bone fragility-contractures-arterial rupture-deafness syndrome, Bone fragility-contractures-arterial rupture-hearing loss syndrome, Connective tissue disorder due to LH3 deficiency]","Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.",[612394],,,,,,,, +GARD:17363,Active,Orphanet,ORPHA:300293,Disorder,[Disease],Transient infantile hypertriglyceridemia and hepatosteatosis,[Transient infantile hypertriglyceridemia and fatty liver],"Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.",[614480],,,,,,,, +GARD:17364,Active,Orphanet,ORPHA:300298,Disorder,[Disease],Severe congenital hypochromic anemia with ringed sideroblasts,[Severe congenital hypochromic sideroblastic anemia],"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.",[615234],,,,,,,, +GARD:17365,Active,Orphanet,ORPHA:300313,Disorder,[Disease],Congenital cataract-hearing loss-severe developmental delay syndrome,"[Congenital cataract-deafness-severe developmental delay syndrome, Huppke-Brendel syndrome, Lethal neurodegenerative disorder due to copper transport defect]","Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.",[614482],,,,,,,, +GARD:17366,Active,Orphanet,ORPHA:300324,Disorder,[Disease],Persistent polyclonal B-cell lymphocytosis,"[PPBL, Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes]","Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.",[606445],,,,,,,, +GARD:17367,Active,Orphanet,ORPHA:300333,Disorder,[Disease],Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,"[EBS with nephropathy, Epidermolysis bullosa simplex with nephropathy, Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome]","A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.",[609057],,,,,,,, +GARD:17368,Active,Orphanet,ORPHA:300345,Disorder,[Disease],Autosomal systemic lupus erythematosus,"[Autosomal SLE, Familial SLE, Familial systemic lupus erythematosus]","Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.",[614420],,,,,,,, +GARD:17369,Active,Orphanet,ORPHA:300359,Disorder,[Disease],PLCG2-associated antibody deficiency and immune dysregulation,"[FACU, Familial atypical cold urticaria, Familial cold urticaria with common variable immunodeficiency, PLAID]","PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.",[614468],,,,,,,, +GARD:17370,Active,Orphanet,ORPHA:300373,Disorder,[Disease],X-linked acrogigantism,"[Familial infantile gigantism, Hereditary infantile gigantism, Hereditary pituitary hyperplasia, Infantile gigantism due to pituitary hyperplasia, X-LAG]","A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.",[300942],,,,,,,, +GARD:17371,Active,Orphanet,ORPHA:300382,Disorder,[Disease],Progeroid and marfanoid aspect-lipodystrophy syndrome,,"Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.",[616914],,,,,,,, +GARD:17372,Active,Orphanet,ORPHA:300525,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2D,[PHA2D],,[614495],,,,,,,, +GARD:17373,Active,Orphanet,ORPHA:300530,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2E,[PHA2E],,[614496],,,,,,,, +GARD:17374,Active,Orphanet,ORPHA:300547,Disorder,[Disease],Autosomal recessive infantile hypercalcemia,[Familial infantile hypercalcemia with suppressed intact parathyroid hormone],"A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.","[143880, 616963]",,,,,,,, +GARD:17375,Active,Orphanet,ORPHA:300573,Disorder,[Malformation syndrome],Polymicrogyria due to TUBB2B mutation,,"A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).",[610031],,,,,,,, +GARD:17376,Active,Orphanet,ORPHA:300576,Disorder,[Disease],Oligodontia-cancer predisposition syndrome,[Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome],"Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.",[608615],,,,,,,, +GARD:17377,Active,Orphanet,ORPHA:306504,Disorder,[Disease],Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,"[ILNEB syndrome, JEB with interstitial lung disease and nephrotic syndrome, Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome]","A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.",[614748],,,,,,,, +GARD:17378,Active,Orphanet,ORPHA:306511,Disorder,[Disease],Autosomal recessive spastic paraplegia type 48,[SPG48],"A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.",[613647],,,,,,,, +GARD:17379,Active,Orphanet,ORPHA:306530,Disorder,[Morphological anomaly],Congenital hereditary facial paralysis-variable hearing loss syndrome,"[Congenital hereditary facial palsy with variable deafness, Congenital hereditary facial palsy with variable hearing loss, Congenital hereditary facial paralysis with variable deafness, Congenital hereditary facial paralysis-variable deafness syndrome]","Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","[614744, 604185]",,,,,,,, +GARD:1738,Legacy,GARD,,,,,,,,,,,,Chromosome 13q deletion,TRUE,FALSE,Active +GARD:17380,Active,Orphanet,ORPHA:306547,Disorder,[Malformation syndrome],Porencephaly-microcephaly-bilateral congenital cataract syndrome,,"Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.",[613730],,,,,,,, +GARD:17381,Active,Orphanet,ORPHA:306558,Disorder,[Disease],Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,,"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.","[619278, 614231]",,,,,,,, +GARD:17382,Active,Orphanet,ORPHA:306577,Disorder,[Disease],Sodium channelopathy-related small fiber neuropathy,,"Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.","[133020, 615551]",,,,,,,, +GARD:17383,Active,Orphanet,ORPHA:306734,Disorder,[Disease],"Primary dystonia, DYT21 type",[DYT21],"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.",[614588],,,,,,,, +GARD:17384,Active,Orphanet,ORPHA:307936,Disorder,[Disease],Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,"[HOPP syndrome, Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome, Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome, Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome]","Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.",[607658],,,,,,,, +GARD:17385,Active,Orphanet,ORPHA:308380,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblDv1,[Functional methionine synthase deficiency type cblDv1],,[277410],,,,,,,, +GARD:17386,Active,Orphanet,ORPHA:308386,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A, MOCOD type A]",,[252150],,,,,,,, +GARD:17387,Active,Orphanet,ORPHA:308393,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B, MOCOD type B]",,[252160],,,,,,,, +GARD:17388,Active,Orphanet,ORPHA:308400,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, MOCOD type C]",,[615501],,,,,,,, +GARD:17389,Active,Orphanet,ORPHA:308410,Disorder,[Disease],Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,,"A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.",[614923],,,,,,,, +GARD:17390,Active,Orphanet,ORPHA:308425,Disorder,[Disease],Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,"[MCEE deficiency, Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency]","Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.",[251120],,,,,,,, +GARD:17391,Active,Orphanet,ORPHA:308442,Subtype of disorder,[Clinical subtype],"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","[Vitamin B12-responsive methylmalonic aciduria, type cblDv2]",,[277410],,,,,,,, +GARD:17392,Active,Orphanet,ORPHA:308473,Subtype of disorder,[Clinical subtype],Erythrocyte galactose epimerase deficiency,"[Erythrocyte GALE deficiency, Erythrocyte GALE-D, Erythrocyte UDP-galactose-4-epimerase deficiency, Erythrocyte epimerase deficiency galactosemia, Erythrocyte uridine diphosphate galactose-4-epimerase deficiency]",,[230350],,,,,,,, +GARD:17393,Active,Orphanet,ORPHA:308487,Subtype of disorder,[Clinical subtype],Generalized galactose epimerase deficiency,"[Generalized GALE deficiency, Generalized GALE-D, Generalized UDP-galactose-4-epimerase deficiency, Generalized epimerase deficiency galactosemia, Generalized uridine diphosphate galactose-4-epimerase deficiency]",,[230350],,,,,,,, +GARD:17394,Active,Orphanet,ORPHA:308621,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","[GBE deficiency, progressive hepatic form, GSD due to glycogen branching enzyme deficiency, progressive hepatic form, GSD type 4, progressive hepatic form, GSDIV, progressive hepatic form, Glycogen storage disease type 4, progressive hepatic form, Glycogen storage disease type IV, progressive hepatic form, Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form, Glycogenosis type 4, progressive hepatic form, Glycogenosis type IV, progressive hepatic form]",,[232500],,,,,,,, +GARD:17395,Active,Orphanet,ORPHA:308638,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","[GBE deficiency, non progressive hepatic form, GSD due to glycogen branching enzyme deficiency, non progressive hepatic form, GSD type 4, non progressive hepatic form, GSDIV, non progressive hepatic form, Glycogen storage disease type 4, non progressive hepatic form, Glycogen storage disease type IV, non progressive hepatic form, Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form, Glycogenosis type 4, non progressive hepatic form, Glycogenosis type IV, non progressive hepatic form]",,[232500],,,,,,,, +GARD:17396,Active,Orphanet,ORPHA:308655,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","[GBE deficiency, fatal perinatal neuromuscular form, GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, GSD type 4, fatal perinatal neuromuscular form, GSDIV, fatal perinatal neuromuscular form, Glycogen storage disease type 4, fatal perinatal neuromuscular form, Glycogen storage disease type IV, fatal perinatal neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, Glycogenosis type 4, fatal perinatal neuromuscular form, Glycogenosis type IV, fatal perinatal neuromuscular form]",,[232500],,,,,,,, +GARD:17397,Active,Orphanet,ORPHA:308670,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","[GBE deficiency, congenital neuromuscular form, GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form, GSD type 4, congenital neuromuscular form, GSDIV, congenital neuromuscular form, Glycogen storage disease type 4, congenital neuromuscular form, Glycogen storage disease type IV, congenital neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form, Glycogenosis type 4, congenital neuromuscular form, Glycogenosis type IV, congenital neuromuscular form]",,[232500],,,,,,,, +GARD:17398,Active,Orphanet,ORPHA:308684,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","[GBE deficiency, childhood combined hepatic and myopathic form, GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form, GSD type 4, childhood combined hepatic and myopathic form, GSDIV, childhood combined hepatic and myopathic form, Glycogen storage disease type 4, childhood combined hepatic and myopathic form, Glycogen storage disease type IV, childhood combined hepatic and myopathic form, Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form, Glycogenosis type 4, childhood combined hepatic and myopathic form, Glycogenosis type IV, childhood combined hepatic and myopathic form]",,[232500],,,,,,,, +GARD:17399,Active,Orphanet,ORPHA:308698,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","[GBE deficiency, childhood neuromuscular form, GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form, GSD type 4, childhood neuromuscular form, GSDIV, childhood neuromuscular form, Glycogen storage disease type 4, childhood neuromuscular form, Glycogen storage disease type IV, childhood neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form, Glycogenosis type 4, childhood neuromuscular form, Glycogenosis type IV, childhood neuromuscular form]",,[232500],,,,,,,, +GARD:174,Legacy,GARD,,,,,,,,,,,,Kuzniecky Andermann syndrome,TRUE,FALSE,Active +GARD:17400,Active,Orphanet,ORPHA:308712,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","[GBE deficiency, adult neuromuscular form, GSD due to glycogen branching enzyme deficiency, adult neuromuscular form, GSD type 4, adult neuromuscular form, GSDIV, adult neuromuscular form, Glycogen storage disease type 4, adult neuromuscular form, Glycogen storage disease type IV, adult neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form, Glycogenosis type 4, adult neuromuscular form, Glycogenosis type IV, adult neuromuscular form]",,[232500],,,,,,,, +GARD:17401,Active,Orphanet,ORPHA:309031,Disorder,[Disease],Pancreatic triacylglycerol lipase deficiency,[Pancreatic triglyceride lipase deficiency],"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.",[614338],,,,,,,, +GARD:17402,Active,Orphanet,ORPHA:309108,Disorder,[Disease],Pancreatic colipase deficiency,,"A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.",[614338],,,,,,,, +GARD:17403,Active,Orphanet,ORPHA:309111,Disorder,[Disease],Combined pancreatic lipase-colipase deficiency,,"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.",[614338],,,,,,,, +GARD:17404,Active,Orphanet,ORPHA:309162,Subtype of disorder,[Clinical subtype],"Sandhoff disease, juvenile form","[Hexosaminidases A and B deficiency, juvenile form, Juvenile GM2 gangliosidosis 0 variant]",,[268800],,,,,,,, +GARD:17405,Active,Orphanet,ORPHA:309169,Subtype of disorder,[Clinical subtype],"Sandhoff disease, adult form","[Adult GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency, adult form]",,[268800],,,,,,,, +GARD:17406,Active,Orphanet,ORPHA:309246,Disorder,[Disease],"GM2 gangliosidosis, AB variant",[Hexosaminidase activator deficiency],"GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.",[272750],,,,,,,, +GARD:17407,Active,Orphanet,ORPHA:309282,Subtype of disorder,[Clinical subtype],"Alpha-mannosidosis, infantile form","[Lysosomal alpha-D-mannosidase deficiency, infantile form]",,[248500],,,,,,,, +GARD:17408,Active,Orphanet,ORPHA:309288,Subtype of disorder,[Clinical subtype],"Alpha-mannosidosis, adult form","[Lysosomal alpha-D-mannosidase deficiency, adult form]",,[248500],,,,,,,, +GARD:17409,Active,Orphanet,ORPHA:313772,Disorder,[Disease],Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,"[AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, Autosomal recessive spastic ataxia type 5, SPAX5]","Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.",[614487],,,,,,,, +GARD:17410,Active,Orphanet,ORPHA:313795,Disorder,[Malformation syndrome],Jawad syndrome,,"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.",[251255],,,,,,,, +GARD:17411,Active,Orphanet,ORPHA:313800,Disorder,[Disease],Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,"[Optic nerve edema-splenomegaly syndrome, ROSAH syndrome]","A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.",[614979],,,,,,,, +GARD:17412,Active,Orphanet,ORPHA:313838,Disorder,[Disease],Coats plus syndrome,"[CRMCC, Cerebroretinal microangiopathy with calcifications and cysts]","Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.","[612199, 617341]",,,,,,,, +GARD:17413,Active,Orphanet,ORPHA:313846,Disorder,[Disease],Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,,"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.",[614564],,,,,,,, +GARD:17414,Active,Orphanet,ORPHA:313884,Subtype of disorder,[Clinical subtype],12p12.1 microdeletion syndrome,"[Del(12)(p12.1), Monosomy 12p12.1]","12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.",[616803],,,,,,,, +GARD:17415,Active,Orphanet,ORPHA:313892,Subtype of disorder,[Clinical subtype],Developmental and speech delay due to SOX5 deficiency,,"Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).",[616803],,,,,,,, +GARD:17416,Active,Orphanet,ORPHA:314022,Disorder,[Disease],Gastric adenocarcinoma and proximal polyposis of the stomach,"[Familial fundic gland polyposis with gastric cancer, GAPPS]","Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.",[619182],,,,,,,, +GARD:17417,Active,Orphanet,ORPHA:314373,Disorder,[Disease],Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,,"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.",[614616],,,,,,,, +GARD:17418,Active,Orphanet,ORPHA:314376,Disorder,[Disease],Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,[Meconium ileus due to guanylate cyclase 2C deficiency],"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.",[614665],,,,,,,, +GARD:17419,Active,Orphanet,ORPHA:314394,Disorder,[Disease],Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,[SOFT syndrome],"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.",[614813],,,,,,,, +GARD:17420,Active,Orphanet,ORPHA:314399,Disorder,[Disease],Autosomal dominant aplasia and myelodysplasia,[Autosomal dominant aplastic anemia and myelodysplasia],"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.",[614675],,,,,,,, +GARD:17421,Active,Orphanet,ORPHA:314485,Disorder,[Disease],Young adult-onset distal hereditary motor neuropathy,"[Autosomal recessive distal spinal muscular atrophy type 5, Young adult-onset dHMN, dSMA5]","Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.","[619216, 614881]",,,,,,,, +GARD:17422,Active,Orphanet,ORPHA:314555,Disorder,[Malformation syndrome],Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,[Hamamy syndrome],"A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.",[611174],,,,,,,, +GARD:17423,Active,Orphanet,ORPHA:314585,Disorder,[Malformation syndrome],15q overgrowth syndrome,,"A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.",[614846],,,,,,,, +GARD:17424,Active,Orphanet,ORPHA:314588,Subtype of disorder,[Etiological subtype],Distal tetrasomy 15q,"[Tetrasomy 15(q25-qter), Tetrasomy 15q26]",,[614846],,,,,,,, +GARD:17425,Active,Orphanet,ORPHA:314603,Disorder,[Disease],Autosomal recessive spastic ataxia with leukoencephalopathy,"[ARSAL, Autosomal recessive spastic ataxia type 3, SPAX3]","A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.",[611390],,,,,,,, +GARD:17426,Active,Orphanet,ORPHA:314629,Subtype of disorder,[Etiological subtype],CLN11 disease,,,[614706],,,,,,,, +GARD:17427,Active,Orphanet,ORPHA:314632,Disorder,[Disease],ATP13A2-related juvenile neuronal ceroid lipofuscinosis,"[CLN12 disease, Juvenile parkinsonism-neuronal ceroid lipofuscinosis]","A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.",[606693],,,,,,,, +GARD:17428,Active,Orphanet,ORPHA:314637,Disorder,[Disease],Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,"[COXPD10, Combined oxidative phosphorylation defect type 10]","A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.",[614702],,,,,,,, +GARD:17429,Active,Orphanet,ORPHA:314647,Disorder,[Disease],Non-progressive cerebellar ataxia with intellectual disability,,"A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).",[614756],,,,,,,, +GARD:17430,Active,Orphanet,ORPHA:314689,Disorder,[Disease],Combined immunodeficiency due to STK4 deficiency,[CID due to STK4 deficiency],"A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).",[614868],,,,,,,, +GARD:17431,Active,Orphanet,ORPHA:314701,Subtype of disorder,[Clinical subtype],Primary systemic amyloidosis,[Systemic AL amyloidosis],,[254500],,,,,,,, +GARD:17432,Active,Orphanet,ORPHA:314718,Disorder,[Disease],Lethal arteriopathy syndrome due to fibulin-4 deficiency,,"Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.",[614437],,,,,,,, +GARD:17433,Active,Orphanet,ORPHA:314721,Subtype of disorder,[Clinical subtype],Atypical dentin dysplasia due to SMOC2 deficiency,[Dentin dysplasia type 1 with microdontia and shape anomalies],"A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.",[125400],,,,,,,, +GARD:17434,Active,Orphanet,ORPHA:314795,Disorder,[Disease],SHOX-related short stature,,"SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.",[300582],,,,,,,, +GARD:17435,Active,Orphanet,ORPHA:314802,Disorder,[Disease],Short stature due to partial GHR deficiency,[Short stature due to partial growth hormone receptor deficiency],"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.",[604271],,,,,,,, +GARD:17436,Active,Orphanet,ORPHA:314811,Disorder,[Disease],Short stature due to GHSR deficiency,"[Ghrelin receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency]","Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.",[615925],,,,,,,, +GARD:17437,Active,Orphanet,ORPHA:314911,Subtype of disorder,[Clinical subtype],Severe Canavan disease,"[Infantile Canavan disease, Neonatal Canavan disease]","Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.",[271900],,,,,,,, +GARD:17438,Active,Orphanet,ORPHA:314918,Subtype of disorder,[Clinical subtype],Mild Canavan disease,[Juvenile Canavan disease],Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.,[271900],,,,,,,, +GARD:17439,Active,Orphanet,ORPHA:314978,Disorder,[Disease],X-linked non progressive cerebellar ataxia,,"X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.",[300703],,,,,,,, +GARD:17440,Active,Orphanet,ORPHA:314993,Disorder,[Malformation syndrome],Cataract-congenital heart disease-neural tube defect syndrome,,"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.",[608227],,,,,,,, +GARD:17441,Active,Orphanet,ORPHA:317425,Disorder,[Disease],Severe combined immunodeficiency due to DNA-PKcs deficiency,[SCID due to DNA-PKcs deficiency],"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.",[615966],,,,,,,, +GARD:17442,Active,Orphanet,ORPHA:317473,Disorder,[Disease],Pancytopenia due to IKZF1 mutations,"[CID due to IKAROS deficiency, Combined immunodeficiency due to IKAROS deficiency]","A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.",[616873],,,,,,,, +GARD:17443,Active,Orphanet,ORPHA:319160,Disorder,[Disease],Congenital myopathy with internal nuclei and atypical cores,"[CNM4, Centronuclear myopathy type 4]","Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.",[614807],,,,,,,, +GARD:17444,Active,Orphanet,ORPHA:319189,Disorder,[Disease],Familial cortical myoclonus,,"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.",[614937],,,,,,,, +GARD:17445,Active,Orphanet,ORPHA:319199,Disorder,[Disease],Autosomal recessive spastic paraplegia type 53,[SPG53],"Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.",[614898],,,,,,,, +GARD:17446,Active,Orphanet,ORPHA:319308,Disorder,[Disease],MiT family translocation renal cell carcinoma,"[Carcinoma associated with MITF/TFE translocation, Translocation renal cell carcinoma]","MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.",[300854],,,,,,,, +GARD:17447,Active,Orphanet,ORPHA:319332,Disorder,[Disease],Autosomal recessive myogenic arthrogryposis multiplex congenita,"[Autosomal recessive myogenic AMC, SYNE1-related AMC, SYNE1-related arthrogryposis multiplex congenita]","Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.",[618484],,,,,,,, +GARD:17448,Active,Orphanet,ORPHA:319340,Disorder,[Disease],Carney complex-trismus-pseudocamptodactyly syndrome,[Carney complex variant],"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).",[608837],,,,,,,, +GARD:17449,Active,Orphanet,ORPHA:319462,Disorder,[Disease],Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,,"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",[605724],,,,,,,, +GARD:17450,Active,Orphanet,ORPHA:319465,Disorder,[Disease],Inherited acute myeloid leukemia,"[Familial AML, Inherited AML, Pure familial AML, Pure familial acute myeloid leukemia]","Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.",[601626],,,,,,,, +GARD:17451,Active,Orphanet,ORPHA:319480,Disorder,[Disease],Acute myeloid leukemia with CEBPA somatic mutations,[AML with CEBPA somatic mutations],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).",[601626],,,,,,,, +GARD:17452,Active,Orphanet,ORPHA:319504,Disorder,[Disease],Combined oxidative phosphorylation defect type 8,[COXPD8],"Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.",[614096],,,,,,,, +GARD:17453,Active,Orphanet,ORPHA:319509,Disorder,[Disease],Combined oxidative phosphorylation defect type 9,[COXPD9],"Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.",[614582],,,,,,,, +GARD:17454,Active,Orphanet,ORPHA:319514,Disorder,[Disease],Combined oxidative phosphorylation defect type 13,[COXPD13],"Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.",[614932],,,,,,,, +GARD:17455,Active,Orphanet,ORPHA:319519,Disorder,[Disease],Combined oxidative phosphorylation defect type 14,[COXPD14],"Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.",[614946],,,,,,,, +GARD:17456,Active,Orphanet,ORPHA:319524,Disorder,[Disease],Combined oxidative phosphorylation defect type 15,[COXPD15],"Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.",[614947],,,,,,,, +GARD:17457,Active,Orphanet,ORPHA:319547,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,"[MSMD due to complete IFNgammaR2 deficiency, MSMD due to complete interferon gamma receptor 2 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency]","Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[614889],,,,,,,, +GARD:17458,Active,Orphanet,ORPHA:319563,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,[MSMD due to complete ISG15 deficiency],Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.,[616126],,,,,,,, +GARD:17459,Active,Orphanet,ORPHA:319569,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,"[Autosomal recessive MSMD due to partial IFNgammaR1 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency]","A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[209950],,,,,,,, +GARD:1746,Legacy,GARD,,,,,,,,,,,,Chromosome 15q deletion,TRUE,FALSE,Active +GARD:17460,Active,Orphanet,ORPHA:319574,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,"[Autosomal recessive MSMD due to partial IFNgammaR2 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency]","Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[614889],,,,,,,, +GARD:17461,Active,Orphanet,ORPHA:319581,Disorder,[Disease],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,"[Autosomal dominant MSMD due to partial IFNgammaR1 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency]","A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[615978],,,,,,,, +GARD:17462,Active,Orphanet,ORPHA:319595,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,"[MSMD due to partial STAT1 deficiency, MSMD due to partial signal transducer and activator of transcription 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency]","Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.",[614892],,,,,,,, +GARD:17463,Active,Orphanet,ORPHA:319600,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,"[MSMD due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..,[614893],,,,,,,, +GARD:17464,Active,Orphanet,ORPHA:319605,Disorder,[Disease],X-linked mendelian susceptibility to mycobacterial diseases,[X-linked MSMD],"X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.","[300636, 300645]",,,,,,,, +GARD:17465,Active,Orphanet,ORPHA:319623,Subtype of disorder,[Etiological subtype],X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,[X-linked MSMD due to CYBB deficiency],,[300645],,,,,,,, +GARD:17466,Active,Orphanet,ORPHA:319635,Disorder,[Disease],Amyloidosis cutis dyschromia,[Amyloidosis cutis dyschromica],"A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.",[617920],,,,,,,, +GARD:17467,Active,Orphanet,ORPHA:319640,Disorder,[Disease],Retinal macular dystrophy type 2,[MCDR2],"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.",[608051],,,,,,,, +GARD:17468,Active,Orphanet,ORPHA:319671,Disorder,[Malformation syndrome],Alazami syndrome,"[Microcephalic primordial dwarfism, Alazami type]","A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).",[615071],,,,,,,, +GARD:17469,Active,Orphanet,ORPHA:319675,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Dauber type",,"Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.",[614851],,,,,,,, +GARD:17470,Active,Orphanet,ORPHA:319678,Disorder,[Disease],Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,,"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.",[614654],,,,,,,, +GARD:17471,Active,Orphanet,ORPHA:320355,Disorder,[Disease],Autosomal dominant spastic paraplegia type 41,[SPG41],"A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.",[613364],,,,,,,, +GARD:17472,Active,Orphanet,ORPHA:320365,Disorder,[Disease],Autosomal dominant spastic paraplegia type 36,[SPG36],"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.",[613096],,,,,,,, +GARD:17473,Active,Orphanet,ORPHA:320370,Disorder,[Disease],Autosomal recessive spastic paraplegia type 43,[SPG43],"Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.",[615043],,,,,,,, +GARD:17474,Active,Orphanet,ORPHA:320375,Disorder,[Disease],Autosomal recessive spastic paraplegia type 55,[SPG55],"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.",[615035],,,,,,,, +GARD:17475,Active,Orphanet,ORPHA:320380,Disorder,[Disease],Autosomal recessive spastic paraplegia type 54,[SPG54],"Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.",[615033],,,,,,,, +GARD:17476,Active,Orphanet,ORPHA:320391,Disorder,[Disease],Autosomal recessive spastic paraplegia type 46,[SPG46],"Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.",[614409],,,,,,,, +GARD:17477,Active,Orphanet,ORPHA:320396,Disorder,[Disease],Autosomal recessive spastic paraplegia type 45,"[Autosomal recessive spastic paraplegia type 65, SPG45, SPG65]","Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.",[613162],,,,,,,, +GARD:17478,Active,Orphanet,ORPHA:320401,Disorder,[Disease],Autosomal recessive spastic paraplegia type 44,[SPG44],"Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.",[613206],,,,,,,, +GARD:17479,Active,Orphanet,ORPHA:320406,Disorder,[Disease],Spastic paraplegia-optic atrophy-neuropathy syndrome,[SPOAN],"A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.",[609541],,,,,,,, +GARD:17480,Active,Orphanet,ORPHA:320411,Disorder,[Disease],Autosomal recessive spastic paraplegia type 56,[SPG56],"A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.",[615030],,,,,,,, +GARD:17481,Active,Orphanet,ORPHA:324262,Subtype of disorder,[Clinical subtype],Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,"[Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency, Autosomal recessive spinocerebellar ataxia type 13, SCAR13]","A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.",[614831],,,,,,,, +GARD:17482,Active,Orphanet,ORPHA:324290,Disorder,[Disease],Early-onset Lafora body disease,,"A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.",[616640],,,,,,,, +GARD:17483,Active,Orphanet,ORPHA:324294,Disorder,[Disease],T-cell immunodeficiency with epidermodysplasia verruciformis,[T-cell immunodeficiency due to RHOH deficiency],"A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.",[618307],,,,,,,, +GARD:17484,Active,Orphanet,ORPHA:324321,Disorder,[Disease],Sinoatrial node dysfunction and deafness,[Sinoatrial node dysfunction and hearing loss],"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.",[614896],,,,,,,, +GARD:17485,Active,Orphanet,ORPHA:324410,Disorder,[Disease],X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,,"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.",[300886],,,,,,,, +GARD:17486,Active,Orphanet,ORPHA:324530,Disorder,[Disease],Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,[APLAID],"A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.",[614878],,,,,,,, +GARD:17487,Active,Orphanet,ORPHA:324535,Disorder,[Disease],Combined oxidative phosphorylation defect type 11,[COXPD11],"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.",[614922],,,,,,,, +GARD:17488,Active,Orphanet,ORPHA:324569,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 8,"[PCH8, Pontocerebellar hypoplasia due to CHMP1A mutation]","Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.",[614961],,,,,,,, +GARD:17489,Active,Orphanet,ORPHA:324703,Subtype of disorder,[Clinical subtype],ABetaL34V amyloidosis,"[ABeta amyloidosis, Piedmont type, ABetaL34V-related amyloidosis, HCHWA, Piedmont type, Hereditary cerebral hemorrhage with amyloidosis, Piedmont type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17490,Active,Orphanet,ORPHA:324708,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Iowa type","[ABetaD23N amyloidosis, HCHWA, Iowa type, Hereditary cerebral hemorrhage with amyloidosis, Iowa type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17491,Active,Orphanet,ORPHA:324713,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Italian type","[ABetaE22K amyloidosis, HCHWA, Italian type, Hereditary cerebral hemorrhage with amyloidosis, Italian type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17492,Active,Orphanet,ORPHA:324718,Subtype of disorder,[Clinical subtype],ABetaA21G amyloidosis,"[ABeta amyloidosis, Flemish type, ABetaA21G-related amyloidosis, HCHWA, Flemish type, Hereditary cerebral hemorrhage with amyloidosis, Flemish type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17493,Active,Orphanet,ORPHA:324723,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Arctic type","[ABetaE22G amyloidosis, HCHWA, Arctic type, Hereditary cerebral hemorrhage with amyloidosis, Arctic type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years, progressive Alzheimer's disease-like dementia, and absence of intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17494,Active,Orphanet,ORPHA:329173,Disorder,[Disease],Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,,"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.",[615895],,,,,,,, +GARD:17495,Active,Orphanet,ORPHA:329191,Disorder,[Disease],Tall stature-long halluces-multiple extra-epiphyses syndrome,[Tall stature-scoliosis-macrodactyly of the halluces syndrome],"Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.",[615923],,,,,,,, +GARD:17496,Active,Orphanet,ORPHA:329195,Disorder,[Disease],Developmental delay with autism spectrum disorder and gait instability,[Developmental delay with ASD and gait instability],"Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.",[615516],,,,,,,, +GARD:17497,Active,Orphanet,ORPHA:329211,Disorder,[Disease],Autosomal dominant neovascular inflammatory vitreoretinopathy,[ADNIV],"A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.",[193235],,,,,,,, +GARD:17498,Active,Orphanet,ORPHA:329228,Disorder,[Malformation syndrome],Microcephalic primordial dwarfism due to ZNF335 deficiency,"[Microcephalic primordial dwarfism, Walsh type]","Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.",[615095],,,,,,,, +GARD:17499,Active,Orphanet,ORPHA:329235,Disorder,[Disease],X-linked central congenital hypothyroidism with late-onset testicular enlargement,"[IGSF1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism]","X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.",[300888],,,,,,,, +GARD:175,Active,Orphanet,ORPHA:309324,Subtype of disorder,[Clinical subtype],"Free sialic acid storage disease, infantile form",[ISSD],,[269920],,,,,Infantile free sialic acid storage disease,TRUE,FALSE,Active +GARD:17500,Active,Orphanet,ORPHA:329242,Disorder,[Disease],Congenital chronic diarrhea with protein-losing enteropathy,[Congenital chronic diarrhea with exudative enteropathy],"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","[618183, 615863]",,,,,,,, +GARD:17501,Active,Orphanet,ORPHA:329314,Disorder,[Disease],Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,[Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency],"An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.",[617070],,,,,,,, +GARD:17502,Active,Orphanet,ORPHA:329332,Disorder,[Malformation syndrome],Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,[Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome],"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.",[614407],,,,,,,, +GARD:17503,Active,Orphanet,ORPHA:329336,Disorder,[Disease],Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,[Adult-onset CPEO with mitochondrial myopathy],"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.",[616479],,,,,,,, +GARD:17504,Active,Orphanet,ORPHA:329481,Disorder,[Disease],Lipoprotein glomerulopathy,[LPG],"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.",[611771],,,,,,,, +GARD:17505,Active,Orphanet,ORPHA:329802,Disorder,[Malformation syndrome],5p13 microduplication syndrome,"[Dup(5)(p13), Trisomy 5p13]","A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).",[613174],,,,,,,, +GARD:17506,Active,Orphanet,ORPHA:329903,Subtype of disorder,[Clinical subtype],Immunoglobulin-mediated membranoproliferative glomerulonephritis,"[Ig-mediated MPGN, Ig-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated MPGN]","A primary form of membranoproliferative glomerulonephritis (MPGN) characterized by deposition in the renal glomeruli of immunoglobulin with complement fractions, especially C3. Clinical presentation may range from nephrotic syndrome and acute kidney injury to asymptomatic proteinuria and hematuria.",[615008],,,,,,,, +GARD:17507,Active,Orphanet,ORPHA:329918,Subtype of disorder,[Clinical subtype],C3 glomerulopathy,"[Non-Ig-mediated MPGN, Non-Ig-mediated membranoproliferative glomerulonephritis, Non-immunoglobulin-mediated MPGN, Non-immunoglobulin-mediated membranoproliferative glomerulonephritis]","A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).","[609814, 614809]",,,,,,,, +GARD:17508,Active,Orphanet,ORPHA:329971,Subtype of disorder,[Clinical subtype],Generalized juvenile polyposis/juvenile polyposis coli,,,"[175050, 174900]",,,,,,,, +GARD:17509,Active,Orphanet,ORPHA:330050,Subtype of disorder,[Etiological subtype],DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,,,[614388],,,,,,,, +GARD:17510,Active,Orphanet,ORPHA:330061,Disorder,[Disease],Actinic prurigo,"[Familial polymorphous light eruption of American Indians, Hereditary polymorphous light eruption of American Indians, Hutchinson summer prurigo, Hydroa aestivale]","A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.",[174770],,,,,,,, +GARD:17511,Active,Orphanet,ORPHA:331176,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,"[SCN4, Severe congenital neutropenia type 4, Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome]","Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.",[612541],,,,,,,, +GARD:17512,Active,Orphanet,ORPHA:331187,Disorder,[Disease],Immunodeficiency due to MASP-2 deficiency,,"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.",[613791],,,,,,,, +GARD:17513,Active,Orphanet,ORPHA:331190,Disorder,[Disease],Immunodeficiency due to ficolin3 deficiency,,"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.",[613860],,,,,,,, +GARD:17514,Active,Orphanet,ORPHA:331226,Disorder,[Disease],Susceptibility to infection due to TYK2 deficiency,[Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency],"Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.",[611521],,,,,,,, +GARD:17515,Active,Orphanet,ORPHA:352333,Disorder,[Disease],Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,"[Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome, ELOVL4-related neuro ichthyosis]","A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.",[614457],,,,,,,, +GARD:17516,Active,Orphanet,ORPHA:352403,Disorder,[Disease],Spectrin-associated autosomal recessive cerebellar ataxia,"[Ataxie spinocérébelleuse à début infantile avec retard psychomoteur, Autosomal recessive spinocerebellar ataxia type 14, Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome, SCAR14, SPARCA, SPARCA1, Spectrin-associated autosomal recessive cerebellar ataxia type 1]","Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).",[615386],,,,,,,, +GARD:17517,Active,Orphanet,ORPHA:352447,Disorder,[Disease],Progressive external ophthalmoplegia-myopathy-emaciation syndrome,"[Mitochondrial DNA maintenance syndrome due to MGME1 deficiency, PEO-myopathy-emaciation syndrome, mtDNA maintenance syndrome due to MGME1 deficiency]","Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.",[615084],,,,,,,, +GARD:17518,Active,Orphanet,ORPHA:352470,Disorder,[Disease],DNA2-related mitochondrial DNA deletion syndrome,"[Mitochondrial DNA deletion syndrome with limb-girdle weakness, Mitochondrial DNA deletion syndrome with progressive myopathy, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy]","A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.",[615156],,,,,,,, +GARD:17519,Active,Orphanet,ORPHA:352479,Disorder,[Disease],ISPD-related limb-girdle muscular dystrophy R20,"[Autosomal recessive limb-girdle muscular dystrophy type 2U, ISPD-related LGMD R20, LGMD type 2U, LGMD2U, Limb-girdle muscular dystrophy type 2U]","A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.",[616052],,,,,,,, +GARD:17520,Active,Orphanet,ORPHA:352490,Disorder,[Disease],Autism spectrum disorder due to AUTS2 deficiency,"[ASD due to AUTS2 deficiency, AUTS2 syndrome]","A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.",[615834],,,,,,,, +GARD:17521,Active,Orphanet,ORPHA:352582,Disorder,[Disease],Familial infantile myoclonic epilepsy,"[FIME, Familial infantile myoclonus epilepsy]","A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.",[605021],,,,,,,, +GARD:17522,Active,Orphanet,ORPHA:352596,Disorder,[Disease],Progressive myoclonic epilepsy with dystonia,"[PMED, Progressive myoclonus epilepsy with dystonia]","Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.",[615338],,,,,,,, +GARD:17523,Active,Orphanet,ORPHA:352654,Disorder,[Disease],Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,,"A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.",[615491],,,,,,,, +GARD:17524,Active,Orphanet,ORPHA:352657,Disorder,[Disease],Hereditary benign intraepithelial dyskeratosis,"[HBID, Hereditary benign corneal intraepithelial dyskeratosis]","A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.",[127600],,,,,,,, +GARD:17525,Active,Orphanet,ORPHA:352662,Disorder,[Disease],Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,,"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.",[615225],,,,,,,, +GARD:17526,Active,Orphanet,ORPHA:352682,Disorder,[Disease],Cobblestone lissencephaly without muscular or ocular involvement,"[Cobblestone lissencephaly without muscular or eye involvement, Lissencephaly type 2 without muscular or eye involvement, Lissencephaly type 2 without muscular or ocular involvement]","A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.",[615191],,,,,,,, +GARD:17527,Active,Orphanet,ORPHA:352709,Subtype of disorder,[Etiological subtype],CLN13 disease,,,[615362],,,,,,,, +GARD:17528,Active,Orphanet,ORPHA:352712,Disorder,[Disease],Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,[FILS syndrome],"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.",[615139],,,,,,,, +GARD:17529,Active,Orphanet,ORPHA:352718,Disorder,[Disease],Progressive retinal dystrophy due to retinol transport defect,[Retinol dystrophy-iris coloboma-comedogenic acne syndrome],"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.",[615147],,,,,,,, +GARD:17530,Active,Orphanet,ORPHA:352737,Subtype of disorder,[Clinical subtype],Temperature-sensitive oculocutaneous albinism type 1,"[OCA1-TS, TS OCA type 1]","An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.",[606952],,,,,,,, +GARD:17531,Active,Orphanet,ORPHA:352745,Disorder,[Disease],Oculocutaneous albinism type 7,[OCA7],"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.",[615179],,,,,,,, +GARD:17532,Active,Orphanet,ORPHA:353217,Disorder,[Disease],Epileptic encephalopathy with global cerebral demyelination,"[AGC1 deficiency, Mitochondrial aspartate-glutamate carrier 1 deficiency]","Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.",[612949],,,,,,,, +GARD:17533,Active,Orphanet,ORPHA:353220,Disorder,[Disease],Familial primary localized cutaneous amyloidosis,[FPLCA],"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","[105250, 613955]",,,,,,,, +GARD:17534,Active,Orphanet,ORPHA:353277,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to CREBBP mutations,,,[180849],,,,,,,, +GARD:17535,Active,Orphanet,ORPHA:353284,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,,,[613684],,,,,,,, +GARD:17536,Active,Orphanet,ORPHA:353308,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, infantile type",[Pyruvate carboxylase deficiency type A],"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.",[266150],,,,,,,, +GARD:17537,Active,Orphanet,ORPHA:353314,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, severe neonatal type",[Pyruvate carboxylase deficiency type B],"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.",[266150],,,,,,,, +GARD:17538,Active,Orphanet,ORPHA:353320,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, benign type",[Pyruvate carboxylase deficiency type C],"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.",[266150],,,,,,,, +GARD:17539,Active,Orphanet,ORPHA:353327,Subtype of disorder,[Etiological subtype],Congenital myasthenic syndromes with glycosylation defect,,,"[614750, 616228, 610542, 616227]",,,,,,,, +GARD:17540,Active,Orphanet,ORPHA:356978,Disorder,[Disease],"D,L-2-hydroxyglutaric aciduria","[Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia, Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria, D,L-2-HGA, D,L-2-hydroxyglutaric acidemia]","A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.",[615182],,,,,,,, +GARD:17541,Active,Orphanet,ORPHA:356996,Disorder,[Disease],ANK3-related intellectual disability-sleep disturbance syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.",[615493],,,,,,,, +GARD:17542,Active,Orphanet,ORPHA:357001,Disorder,[Malformation syndrome],19p13.13 microdeletion syndrome,"[Del(19)(p13.13), Monosomy 19p13.13]","A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).",[613638],,,,,,,, +GARD:17543,Active,Orphanet,ORPHA:357008,Disorder,[Disease],Hemolytic uremic syndrome with DGKE deficiency,[HUS with DGKE deficiency],,[615008],,,,,,,, +GARD:17544,Active,Orphanet,ORPHA:357027,Subtype of disorder,[Clinical subtype],Hereditary retinoblastoma,,,[180200],,,,,,,, +GARD:17545,Active,Orphanet,ORPHA:357034,Subtype of disorder,[Clinical subtype],Non-hereditary retinoblastoma,,,[180200],,,,,,,, +GARD:17546,Active,Orphanet,ORPHA:357074,Subtype of disorder,[Clinical subtype],"Autosomal recessive cutis laxa type 2, classic type","[ARCL2, Debré type, ARCL2, classic type, Autosomal recessive cutis laxa type 2, Debré type]",,"[617402, 219200, 617403]",,,,,,,, +GARD:17547,Active,Orphanet,ORPHA:357158,Disorder,[Disease],Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,[Macroblepharon-ectropion-hypertelorism-macrostomia syndrome],"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.",[602562],,,,,,,, +GARD:17548,Active,Orphanet,ORPHA:357175,Disorder,[Malformation syndrome],Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,,"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.",[615162],,,,,,,, +GARD:17549,Active,Orphanet,ORPHA:357237,Disorder,[Disease],Severe combined immunodeficiency due to CARD11 deficiency,[SCID due to CARD11 deficiency],"Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.",[615206],,,,,,,, +GARD:17550,Active,Orphanet,ORPHA:357329,Disorder,[Disease],Combined immunodeficiency due to IL21R deficiency,,"A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.",[615207],,,,,,,, +GARD:17551,Active,Orphanet,ORPHA:357332,Disorder,[Malformation syndrome],Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,"[Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome, Wahab syndrome]","A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.",[615170],,,,,,,, +GARD:17552,Active,Orphanet,ORPHA:363400,Disorder,[Disease],Severe neurodegenerative syndrome with lipodystrophy,[Severe neurodegenerative syndrome due to BSCL2 deficiency],"Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated.",[615924],,,,,,,, +GARD:17553,Active,Orphanet,ORPHA:363409,Disorder,[Disease],Fetal akinesia-cerebral and retinal hemorrhage syndrome,"[LCCS5, Lethal congenital contracture syndrome type 5]","Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.",[615368],,,,,,,, +GARD:17554,Active,Orphanet,ORPHA:363412,Disorder,[Disease],Hypomyelination with brain stem and spinal cord involvement and leg spasticity,[HBSL],"Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.",[615281],,,,,,,, +GARD:17555,Active,Orphanet,ORPHA:363424,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 3,"[IBA57 deficiency, MMDS3]","A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.",[615330],,,,,,,, +GARD:17556,Active,Orphanet,ORPHA:363429,Disorder,[Disease],Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,,"A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.","[614831, 616204]",,,,,,,, +GARD:17557,Active,Orphanet,ORPHA:363432,Subtype of disorder,[Clinical subtype],Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,"[Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, SCAR18]","A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.",[616204],,,,,,,, +GARD:17558,Active,Orphanet,ORPHA:363444,Disorder,[Malformation syndrome],THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,"[BBIS, Beaulieu-Boycott-Innes syndrome]","A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.",[613680],,,,,,,, +GARD:17559,Active,Orphanet,ORPHA:363447,Disorder,[Disease],Autosomal dominant childhood-onset proximal spinal muscular atrophy,"[Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED]","A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.","[615290, 158600]",,,,,,,, +GARD:17560,Active,Orphanet,ORPHA:363483,Disorder,[Disease],Testicular teratoma,[Teratoma of the testis],"A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.",[273300],,,,,,,, +GARD:17561,Active,Orphanet,ORPHA:363494,Disorder,[Disease],Non-seminomatous germ cell tumor of testis,"[Non-dysgerminomatous germ cell tumor of testis, Testicular non seminomatous germ cell tumor, Testicular non-dysgerminomatous germ cell tumor]","A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.",[273300],,,,,,,, +GARD:17562,Active,Orphanet,ORPHA:363523,Disorder,[Disease],Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,[Shaheen syndrome],"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.",[615328],,,,,,,, +GARD:17563,Active,Orphanet,ORPHA:363528,Disorder,[Disease],Intellectual disability-strabismus syndrome,,"Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.",[615286],,,,,,,, +GARD:17564,Active,Orphanet,ORPHA:363534,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","[mtDNA depletion syndrome, hepatocerebrorenal form]","Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.",[271245],,,,,,,, +GARD:17565,Active,Orphanet,ORPHA:363540,Disorder,[Disease],Leukoencephalopathy with mild cerebellar ataxia and white matter edema,,"A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.",[615651],,,,,,,, +GARD:17566,Active,Orphanet,ORPHA:363611,Disorder,[Disease],CTCF-related neurodevelopmental disorder,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.",[615502],,,,,,,, +GARD:17567,Active,Orphanet,ORPHA:363654,Disorder,[Disease],X-linked parkinsonism-spasticity syndrome,[XPDS],"A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.",[300911],,,,,,,, +GARD:17568,Active,Orphanet,ORPHA:363677,Disorder,[Disease],Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,,"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.",[605637],,,,,,,, +GARD:17569,Active,Orphanet,ORPHA:363694,Disorder,[Disease],Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,[HUPRA syndrome],"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.",[613845],,,,,,,, +GARD:17570,Active,Orphanet,ORPHA:363700,Subtype of disorder,[Etiological subtype],Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,[Von Recklinghausen disease due to NF1 mutation or intragenic deletion],,[162200],,,,,,,, +GARD:17571,Active,Orphanet,ORPHA:363705,Disorder,[Disease],Craniofaciofrontodigital syndrome,[Cantu craniofaciofrontodigital syndrome],"Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).",[114620],,,,,,,, +GARD:17572,Active,Orphanet,ORPHA:363717,Subtype of disorder,[Clinical subtype],Alexander disease type I,[AxD type I],"An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.",[203450],,,,,,,, +GARD:17573,Active,Orphanet,ORPHA:363722,Subtype of disorder,[Clinical subtype],Alexander disease type II,[AxD type II],"An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.",[203450],,,,,,,, +GARD:17574,Active,Orphanet,ORPHA:363727,Disorder,[Disease],X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,,"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.",[300835],,,,,,,, +GARD:17575,Active,Orphanet,ORPHA:363741,Disorder,[Disease],Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,,"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.",[601794],,,,,,,, +GARD:17576,Active,Orphanet,ORPHA:363958,Subtype of disorder,[Etiological subtype],17q21.31 microdeletion syndrome,"[Del(17)(q21.31), Monosomy 17q21.31]",,[610443],,,,,,,, +GARD:17577,Active,Orphanet,ORPHA:363972,Disorder,[Malformation syndrome],Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,"[CBL syndrome, Noonan syndrome-like disorder with JMML]","A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.",[613563],,,,,,,, +GARD:17578,Active,Orphanet,ORPHA:363981,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B3,"[CMT4B3, Charcot-Marie-Tooth disease with focally folded myelin]","Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).",[615284],,,,,,,, +GARD:17579,Active,Orphanet,ORPHA:363992,Disorder,[Disease],Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,[15q26.3 microdeletion syndrome],"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.",[613195],,,,,,,, +GARD:17580,Active,Orphanet,ORPHA:363999,Subtype of disorder,[Clinical subtype],Non-immune hydrops fetalis,"[NIHF, Non-immune HF, Non-immune fetal edema, Non-immune fetal hydrops]","Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.",[236750],,,,,,,, +GARD:17581,Active,Orphanet,ORPHA:364028,Disorder,[Disease],X-linked intellectual disability due to GRIA3 mutations,,"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.",[300699],,,,,,,, +GARD:17582,Active,Orphanet,ORPHA:364063,Disorder,[Disease],Infantile epileptic-dyskinetic encephalopathy,,"A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.",[308350],,,,,,,, +GARD:17583,Active,Orphanet,ORPHA:364577,Disorder,[Malformation syndrome],Intellectual disability-brachydactyly-Pierre Robin syndrome,,"Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.",[608670],,,,,,,, +GARD:17584,Active,Orphanet,ORPHA:369837,Disorder,[Malformation syndrome],Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,"[Congenital disorder of glycosylation due to PIGT deficiency, MCAHS type 3, Multiple congenital anomalies-hypotonia-seizures syndrome type 3, PIGT-CDG]","A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.",[615398],,,,,,,, +GARD:17585,Active,Orphanet,ORPHA:369852,Disorder,[Disease],Congenital neutropenia-myelofibrosis-nephromegaly syndrome,"[Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency]","Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).",[615285],,,,,,,, +GARD:17586,Active,Orphanet,ORPHA:369861,Disorder,[Disease],Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,[SIFD syndrome],"A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.",[616084],,,,,,,, +GARD:17587,Active,Orphanet,ORPHA:369867,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,[RI-CMT type C],"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.",[615376],,,,,,,, +GARD:17588,Active,Orphanet,ORPHA:369891,Disorder,[Malformation syndrome],Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,[MED13L-related intellectual disability syndrome],"A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.",[616789],,,,,,,, +GARD:17589,Active,Orphanet,ORPHA:369913,Disorder,[Disease],Combined oxidative phosphorylation defect type 17,[COXPD17],"Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.",[615440],,,,,,,, +GARD:17590,Active,Orphanet,ORPHA:369920,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 9,[PCH9],"Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.",[615809],,,,,,,, +GARD:17591,Active,Orphanet,ORPHA:369929,Disorder,[Disease],Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,,"A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).",[615474],,,,,,,, +GARD:17592,Active,Orphanet,ORPHA:369939,Disorder,[Malformation syndrome],Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,[Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome],"A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).",[300475],,,,,,,, +GARD:17593,Active,Orphanet,ORPHA:369970,Disorder,[Disease],Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,[MMCAT syndrome],"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.",[615458],,,,,,,, +GARD:17594,Active,Orphanet,ORPHA:369992,Disorder,[Disease],Severe dermatitis-multiple allergies-metabolic wasting syndrome,"[Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, SAM syndrome]","Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.",[615508],,,,,,,, +GARD:17595,Active,Orphanet,ORPHA:369999,Disorder,[Disease],Diffuse palmoplantar keratoderma with painful fissures,,"Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.",[148700],,,,,,,, +GARD:17596,Active,Orphanet,ORPHA:370002,Disorder,[Disease],Focal palmoplantar keratoderma with joint keratoses,,"Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.",[148700],,,,,,,, +GARD:17597,Active,Orphanet,ORPHA:370022,Disorder,[Disease],Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,[Poretti-Boltshauser syndrome],"A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.",[615960],,,,,,,, +GARD:17598,Active,Orphanet,ORPHA:370091,Disorder,[Disease],Oculocutaneous albinism type 5,[OCA5],"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.",[615312],,,,,,,, +GARD:17599,Active,Orphanet,ORPHA:370097,Disorder,[Disease],Oculocutaneous albinism type 6,[OCA6],"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.",[113750],,,,,,,, +GARD:176,Active,Orphanet,ORPHA:592,Disorder,[Disease],Macrophagic myofasciitis,[MMF],"A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.",,,,,,Macrophagic myofasciitis,TRUE,FALSE,Active +GARD:17600,Active,Orphanet,ORPHA:370334,Disorder,[Disease],Extraskeletal Ewing sarcoma,"[EOE, Extraosseous Ewing sarcoma, Extraosseous Ewing tumor, Extraskeletal Ewing tumor]","Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.",[612219],,,,,,,, +GARD:17601,Active,Orphanet,ORPHA:370348,Disorder,[Disease],Peripheral primitive neuroectodermal tumor,"[PPNET, Peripheral PNET, Peripheral neuroepithelioma]","A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.",[612219],,,,,,,, +GARD:17602,Active,Orphanet,ORPHA:370921,Disorder,[Disease],STT3A-CDG,"[CDG syndrome type Iw, CDG-Iw, CDG1W, Congenital disorder of glycosylation type 1w, Congenital disorder of glycosylation type Iw]","STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).",[615596],,,,,,,, +GARD:17603,Active,Orphanet,ORPHA:370924,Disorder,[Disease],STT3B-CDG,"[CDG syndrome type Ix, CDG-Ix, CDG1X, Carbohydrate deficient glycoprotein syndrome type Ix, Congenital disorder of glycosylation type 1x, Congenital disorder of glycosylation type Ix]","STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).",[615597],,,,,,,, +GARD:17604,Active,Orphanet,ORPHA:370943,Disorder,[Disease],Autism spectrum disorder-epilepsy-arthrogryposis syndrome,[SLC35A3-CDG],"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.",[615553],,,,,,,, +GARD:17605,Active,Orphanet,ORPHA:370959,Disorder,[Disease],Congenital muscular dystrophy with cerebellar involvement,"[CMD with cerebellar involvement, CMD-CRB]","Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.","[613151, 613155, 615351, 613156, 606612]",,,,,,,, +GARD:17606,Active,Orphanet,ORPHA:370968,Disorder,[Disease],Congenital muscular dystrophy with intellectual disability,"[CMD with intellectual disability, CMD-MR]","Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","[613155, 608840, 615351, 613156, 618992, 606612]",,,,,,,, +GARD:17607,Active,Orphanet,ORPHA:370980,Disorder,[Disease],Congenital muscular dystrophy without intellectual disability,"[CMD without intellectual disability, CMD-no MR, Congenital muscular dystrophy-dystroglycanopathy without intellectual disability]","Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","[613152, 606612]",,,,,,,, +GARD:17608,Active,Orphanet,ORPHA:370997,Disorder,[Disease],Muscle-eye-brain disease with bilateral multicystic leucodystrophy,[MEB disease with bilateral multicystic leucodystrophy],"A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.",[616538],,,,,,,, +GARD:17609,Active,Orphanet,ORPHA:371364,Disorder,[Disease],Hypotonia-speech impairment-severe cognitive delay syndrome,"[IHPRF syndrome, Infantile hypotonia-psychomotor retardation-characteristic facies syndrome]","Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).","[615419, 616801]",,,,,,,, +GARD:17610,Active,Orphanet,ORPHA:371428,Disorder,[Disease],Multicentric osteolysis-nodulosis-arthropathy spectrum,"[MONA spectrum, NAO syndrome, Nodulosis-arthropathy-osteolysis syndrome, Torg-Winchester syndrome]","A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.","[259600, 277950]",,,,,,,, +GARD:17611,Active,Orphanet,ORPHA:391307,Disorder,[Malformation syndrome],Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,,"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.",[615541],,,,,,,, +GARD:17612,Active,Orphanet,ORPHA:391311,Disorder,[Disease],Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,"[Predisposition to severe viral infection due to STAT1 deficiency, STAT1 deficiency]","A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.",[613796],,,,,,,, +GARD:17613,Active,Orphanet,ORPHA:391320,Subtype of disorder,[Etiological subtype],East Texas bleeding disorder,,"East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.",[605913],,,,,,,, +GARD:17614,Active,Orphanet,ORPHA:391330,Disorder,[Disease],X-linked osteoporosis with fractures,,"X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.",[300910],,,,,,,, +GARD:17615,Active,Orphanet,ORPHA:391348,Disorder,[Disease],Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,,"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.",[615578],,,,,,,, +GARD:17616,Active,Orphanet,ORPHA:391351,Disorder,[Disease],SURF1-related Charcot-Marie-Tooth disease type 4,"[CMT4K, Charcot-Marie-Tooth disease type 4K, SURF1-related CMT4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease]","A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).",[616684],,,,,,,, +GARD:17617,Active,Orphanet,ORPHA:391376,Disorder,[Disease],Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,[Asparagine synthetase deficiency],"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.",[615574],,,,,,,, +GARD:17618,Active,Orphanet,ORPHA:391389,Subtype of disorder,[Clinical subtype],Familial episodic pain syndrome with predominantly upper body involvement,,"Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.",[615040],,,,,,,, +GARD:17619,Active,Orphanet,ORPHA:391392,Subtype of disorder,[Clinical subtype],Familial episodic pain syndrome with predominantly lower limb involvement,,"Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.",[615552],,,,,,,, +GARD:17620,Active,Orphanet,ORPHA:391408,Disorder,[Disease],Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,,"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.","[616033, 616817]",,,,,,,, +GARD:17621,Active,Orphanet,ORPHA:391411,Disorder,[Disease],Atypical juvenile parkinsonism,,"A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.","[615528, 615530]",,,,,,,, +GARD:17622,Active,Orphanet,ORPHA:391428,Subtype of disorder,[Clinical subtype],"HSD10 disease, infantile type","[2-methyl-3-hydroxybutyric aciduria, classic type, 2-methyl-3-hydroxybutyric aciduria, infantile type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type, HSD10 deficiency, classic type, HSD10 deficiency, infantile type, HSD10 disease, classic type, MHBD deficiency, classic type, MHBD deficiency, infantile type]","HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.",[300438],,,,,,,, +GARD:17623,Active,Orphanet,ORPHA:391457,Subtype of disorder,[Clinical subtype],"HSD10 disease, neonatal type","[2-methyl-3-hydroxybutyric aciduria, neonatal type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type, HSD10 deficiency, neonatal type, MHBD deficiency, neonatal type]","HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.",[300438],,,,,,,, +GARD:17624,Active,Orphanet,ORPHA:391641,Subtype of disorder,[Clinical subtype],Feingold syndrome type 1,"[Brunner-Winter syndrome type 1, Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1, FGLDS1, FS1, MMT type 1, MODED syndrome type 1, Microcephaly-digital anomalies-normal intelligence syndrome type 1, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1, Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1, ODED syndrome type 1, Oculo-digito-esophageal-duodenal syndrome type 1]","A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.",[164280],,,,,,,, +GARD:17625,Active,Orphanet,ORPHA:391646,Subtype of disorder,[Clinical subtype],Feingold syndrome type 2,"[Brachydactyly-short stature-microcephaly syndrome, Brunner-Winter syndrome type 2, FGLDS2, FS2, MMT type 2, Microcephaly-digital anomalies-normal intelligence syndrome type 2, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2]","A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.",[614326],,,,,,,, +GARD:17626,Active,Orphanet,ORPHA:394529,Subtype of disorder,[Clinical subtype],"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","[Glutaric aciduria type 2, severe neonatal type, MAD deficiency, severe neonatal type, MADD, severe neonatal type]",,"[231680, 255100]",,,,,,,, +GARD:17627,Active,Orphanet,ORPHA:394532,Subtype of disorder,[Clinical subtype],"Multiple acyl-CoA dehydrogenase deficiency, mild type","[Glutaric aciduria type 2, mild type, MAD deficiency, mild type, MADD, mild type]",,"[231680, 255100]",,,,,,,, +GARD:17628,Active,Orphanet,ORPHA:397590,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to a point mutation,,,"[618907, 618908, 616489]",,,,,,,, +GARD:17629,Active,Orphanet,ORPHA:397593,Disorder,[Disease],Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,,"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.",[615595],,,,,,,, +GARD:17630,Active,Orphanet,ORPHA:397612,Disorder,[Malformation syndrome],Macrocephaly-developmental delay syndrome,,"Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.",[615637],,,,,,,, +GARD:17631,Active,Orphanet,ORPHA:397615,Subtype of disorder,[Etiological subtype],Obesity due to CEP19 deficiency,,"A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.",[615703],,,,,,,, +GARD:17632,Active,Orphanet,ORPHA:397618,Disorder,[Disease],Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,[FHONDA syndrome],"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.",[609218],,,,,,,, +GARD:17633,Active,Orphanet,ORPHA:397623,Disorder,[Malformation syndrome],Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,[SAMS syndrome],"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.",[602471],,,,,,,, +GARD:17634,Active,Orphanet,ORPHA:397685,Disorder,[Disease],Familial hyperprolactinemia,[Familial isolated prolactin receptor deficiency],"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.",[615555],,,,,,,, +GARD:17635,Active,Orphanet,ORPHA:397692,Disorder,[Disease],Hereditary isolated aplastic anemia,,"Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.",[616553],,,,,,,, +GARD:17636,Active,Orphanet,ORPHA:397709,Disorder,[Malformation syndrome],Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,"[Autosomal recessive spinocerebellar ataxia type 20, Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, SCAR20]","Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.",[616354],,,,,,,, +GARD:17637,Active,Orphanet,ORPHA:397715,Disorder,[Malformation syndrome],Joubert syndrome with Jeune asphyxiating thoracic dystrophy,"[JBTS with JATD, Joubert syndrome with JATD]","A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.","[615636, 616546]",,,,,,,, +GARD:17638,Active,Orphanet,ORPHA:397735,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2U,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation, CMT2U]","A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.",[616280],,,,,,,, +GARD:17639,Active,Orphanet,ORPHA:397744,Disorder,[Disease],Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,[Peripheral neuropathy-myopathy-hoarseness-deafness syndrome],"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.",[614369],,,,,,,, +GARD:17640,Active,Orphanet,ORPHA:397758,Disorder,[Disease],Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,[Retinal dystrophy with inner nuclear layer and ganglion cell anomalies],"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.",[616079],,,,,,,, +GARD:17641,Active,Orphanet,ORPHA:397787,Disorder,[Disease],Severe combined immunodeficiency due to IKK2 deficiency,[SCID due to IKK2 deficiency],"Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.","[618204, 615592]",,,,,,,, +GARD:17642,Active,Orphanet,ORPHA:397927,Disorder,[Malformation syndrome],Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,,"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.",[615709],,,,,,,, +GARD:17643,Active,Orphanet,ORPHA:397937,Disorder,[Disease],Polyglucosan body myopathy type 1,[PGBM1],"Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.",[615895],,,,,,,, +GARD:17644,Active,Orphanet,ORPHA:397946,Disorder,[Disease],Autosomal spastic paraplegia type 58,"[Autosomal spastic ataxia type 2, SPAX2, SPG58]","A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.",[611302],,,,,,,, +GARD:17645,Active,Orphanet,ORPHA:397951,Disorder,[Disease],Microcephaly-thin corpus callosum-intellectual disability syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.",[615599],,,,,,,, +GARD:17646,Active,Orphanet,ORPHA:397959,Disorder,[Disease],TCR-alpha-beta-positive T-cell deficiency,[TCR-alpha-beta+ T-cell deficiency],"TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.",[615387],,,,,,,, +GARD:17647,Active,Orphanet,ORPHA:397964,Disorder,[Disease],Combined immunodeficiency due to MALT1 deficiency,,"Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.",[615468],,,,,,,, +GARD:17648,Active,Orphanet,ORPHA:397973,Disorder,[Disease],Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,[MOMES syndrome],"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.",[606772],,,,,,,, +GARD:17649,Active,Orphanet,ORPHA:398173,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type II,"[FFDD type II, FFDD2, Focal facial dermal dysplasia 2, Brauer-Setleis type]","Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.",[614973],,,,,,,, +GARD:17650,Active,Orphanet,ORPHA:398189,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type IV,"[FFDD type IV, FFDD4, Focal facial dermal dysplasia 4, Focal facial preauricular dysplasia]","Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.",[614974],,,,,,,, +GARD:17651,Active,Orphanet,ORPHA:399058,Disorder,[Disease],Alpha-B crystallin-related late-onset myopathy,"[Alpha-B crystallin-related late-onset distal myopathy, Late-onset distal crystallinopathy]","A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.",[608810],,,,,,,, +GARD:17652,Active,Orphanet,ORPHA:399086,Disorder,[Disease],Finnish upper limb-onset distal myopathy,"[Distal myopathy type 3, MPD3]","Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.",[610099],,,,,,,, +GARD:17653,Active,Orphanet,ORPHA:399096,Disorder,[Disease],Distal anoctaminopathy,"[MMD3, Miyoshi muscular dystrophy type 3]","Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.",[613319],,,,,,,, +GARD:17654,Active,Orphanet,ORPHA:399808,Disorder,[Disease],Male infertility with teratozoospermia due to single gene mutation,,"Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","[102530, 619102, 243060, 615413, 301059, 619144, 619177, 613958, 619258, 619094, 619145, 619044, 619095]",,,,,,,, +GARD:17655,Active,Orphanet,ORPHA:401764,Disorder,[Disease],Pancytopenia-developmental delay syndrome,[Trilineage bone marrow failure-developmental delay syndrome],"Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.",[615715],,,,,,,, +GARD:17656,Active,Orphanet,ORPHA:401780,Disorder,[Disease],Autosomal recessive spastic paraplegia type 61,[SPG61],"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.",[615685],,,,,,,, +GARD:17657,Active,Orphanet,ORPHA:401785,Disorder,[Disease],Autosomal recessive spastic paraplegia type 62,[SPG62],"A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.",[615681],,,,,,,, +GARD:17658,Active,Orphanet,ORPHA:401805,Disorder,[Disease],Autosomal recessive spastic paraplegia type 63,[SPG63],"Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.",[615686],,,,,,,, +GARD:17659,Active,Orphanet,ORPHA:401810,Disorder,[Disease],Autosomal recessive spastic paraplegia type 64,[SPG64],"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.",[615683],,,,,,,, +GARD:17660,Active,Orphanet,ORPHA:401849,Disorder,[Disease],Autosomal spastic paraplegia type 72,[SPG72],"Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.",[615625],,,,,,,, +GARD:17661,Active,Orphanet,ORPHA:401869,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 1,"[MMDS1, NFU1 deficiency]","A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.",[605711],,,,,,,, +GARD:17662,Active,Orphanet,ORPHA:401874,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 2,"[BOLA3 deficiency, MMDS2]","A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.",[614299],,,,,,,, +GARD:17663,Active,Orphanet,ORPHA:401942,Disorder,[Malformation syndrome],Familial median cleft of the upper and lower lips,,"Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.",[615892],,,,,,,, +GARD:17664,Active,Orphanet,ORPHA:401945,Disorder,[Disease],Moyamoya disease with early-onset achalasia,,"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.",[615750],,,,,,,, +GARD:17665,Active,Orphanet,ORPHA:401953,Disorder,[Disease],Episodic ataxia with slurred speech,[Episodic ataxia type 8],"Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.",[616055],,,,,,,, +GARD:17666,Active,Orphanet,ORPHA:401973,Disorder,[Malformation syndrome],MEND syndrome,[Male EBP disorder with neurological defects],"MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.",[300960],,,,,,,, +GARD:17667,Active,Orphanet,ORPHA:401979,Disorder,[Malformation syndrome],"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.",[613320],,,,,,,, +GARD:17668,Active,Orphanet,ORPHA:401986,Disorder,[Malformation syndrome],1p31p32 microdeletion syndrome,"[Del(1)(p31p32), Monosomy 1p31p32]","1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.",[613735],,,,,,,, +GARD:17669,Active,Orphanet,ORPHA:402003,Disorder,[Disease],Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,,"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.",[615735],,,,,,,, +GARD:17670,Active,Orphanet,ORPHA:402075,Disorder,[Morphological anomaly],Familial bicuspid aortic valve,[Familial BAV],"Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).","[614823, 109730]",,,,,,,, +GARD:17671,Active,Orphanet,ORPHA:402082,Disorder,[Disease],Progressive myoclonic epilepsy type 5,"[EPM5, PME type 5, Progressive myoclonus epilepsy type 5]","A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.",[607459],,,,,,,, +GARD:17672,Active,Orphanet,ORPHA:404437,Disorder,[Malformation syndrome],Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,,"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.",[615760],,,,,,,, +GARD:17673,Active,Orphanet,ORPHA:404440,Disorder,[Malformation syndrome],Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,,"Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.",[615761],,,,,,,, +GARD:17674,Active,Orphanet,ORPHA:404443,Disorder,[Malformation syndrome],Tatton-Brown-Rahman syndrome,"[DNMT3A-related overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome]","A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.",[615879],,,,,,,, +GARD:17675,Active,Orphanet,ORPHA:404466,Disorder,[Disease],Female infertility due to zona pellucida defect,,"Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.","[615774, 618353, 617712]",,,,,,,, +GARD:17676,Active,Orphanet,ORPHA:404476,Disorder,[Malformation syndrome],Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,[GLOW syndrome],"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.",[618272],,,,,,,, +GARD:17677,Active,Orphanet,ORPHA:404493,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,"[SCAR23, Spinocerebellar ataxia autosomal recessive type 23]","A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.",[616949],,,,,,,, +GARD:17678,Active,Orphanet,ORPHA:404499,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,"[Autosomal recessive spinocerebellar ataxia type 15, SCAR15, Salih ataxia]","An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.",[615705],,,,,,,, +GARD:17679,Active,Orphanet,ORPHA:404546,Disorder,[Disease],DITRA,"[Deficiency of IL-36R antagonist, Deficiency of IL-36Ra]","A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.",[614204],,,,,,,, +GARD:17680,Active,Orphanet,ORPHA:411493,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 10,"[CLP1-related pontocerebellar hypoplasia, PCH10]","Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.",[615803],,,,,,,, +GARD:17681,Active,Orphanet,ORPHA:411536,Subtype of disorder,[Clinical subtype],Mild phosphoribosylpyrophosphate synthetase superactivity,"[Mild PRPP synthetase superactivity, Mild PRPS1 superactivity]","A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.",[300661],,,,,,,, +GARD:17682,Active,Orphanet,ORPHA:411543,Subtype of disorder,[Clinical subtype],Severe phosphoribosylpyrophosphate synthetase superactivity,"[Severe PRPP synthetase superactivity, Severe PRPS1 superactivity]","A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.",[300661],,,,,,,, +GARD:17683,Active,Orphanet,ORPHA:411590,Disorder,[Disease],Wolfram-like syndrome,,"Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.",[614296],,,,,,,, +GARD:17684,Active,Orphanet,ORPHA:411602,Disorder,[Disease],Hereditary late-onset Parkinson disease,"[Autosomal dominant late-onset Parkinson disease, LOPD]","Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).","[614203, 605543, 607060, 607688, 614251, 616361, 168601]",,,,,,,, +GARD:17685,Active,Orphanet,ORPHA:411634,Subtype of disorder,[Clinical subtype],Juvenile nephropathic cystinosis,"[Intermediate cystinosis, Juvenile cystinosis]","A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.",[219900],,,,,,,, +GARD:17686,Active,Orphanet,ORPHA:411712,Disorder,[Disease],Maternal riboflavin deficiency,,"Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.",[615026],,,,,,,, +GARD:17687,Active,Orphanet,ORPHA:411986,Disorder,[Malformation syndrome],Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,[Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome],"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.",[615859],,,,,,,, +GARD:17688,Active,Orphanet,ORPHA:412022,Disorder,[Malformation syndrome],Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,"[FDLAB syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome, Traboulsi syndrome]","Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.",[601552],,,,,,,, +GARD:17689,Active,Orphanet,ORPHA:412057,Disorder,[Disease],Autosomal recessive cerebellar ataxia due to STUB1 deficiency,"[SCAR16, Spinocerebellar ataxia autosomal recessive type 16]","A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.",[615768],,,,,,,, +GARD:17690,Active,Orphanet,ORPHA:412181,Disorder,[Disease],Epidermolysis bullosa simplex due to BP230 deficiency,"[DST-related epidermolysis bullosa simplex, EBS due to BP230 deficiency]","A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.",[615425],,,,,,,, +GARD:17691,Active,Orphanet,ORPHA:412189,Disorder,[Disease],Epidermolysis bullosa simplex due to exophilin 5 deficiency,[EBS due to exophilin 5 deficiency],"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.",[615028],,,,,,,, +GARD:17692,Active,Orphanet,ORPHA:412206,Disorder,[Disease],Primary failure of tooth eruption,"[PFE, Primary retention of teeth]","A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.",[125350],,,,,,,, +GARD:17693,Active,Orphanet,ORPHA:420485,Disorder,[Disease],Cranio-cervical dystonia with laryngeal and upper-limb involvement,"[DYT24, Dystonia 24]","Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.",[615034],,,,,,,, +GARD:17694,Active,Orphanet,ORPHA:420492,Disorder,[Disease],"Adult-onset cervical dystonia, DYT23 type","[DYT23, Dystonia 23]","A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.",[614860],,,,,,,, +GARD:17695,Active,Orphanet,ORPHA:420566,Disorder,[Disease],Bleeding disorder due to CalDAG-GEFI deficiency,[Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency],"Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.",[615888],,,,,,,, +GARD:17696,Active,Orphanet,ORPHA:420573,Disorder,[Disease],Severe combined immunodeficiency due to CTPS1 deficiency,[SCID due to CTPS1 deficiency],"A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.",[615897],,,,,,,, +GARD:17697,Active,Orphanet,ORPHA:420686,Disorder,[Disease],Woolly hair-palmoplantar keratoderma syndrome,"[KWWH type IV, Keratoderma with woolly hair type IV, Woolly hair-palmoplantar hyperkeratosis syndrome]","Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.",[616099],,,,,,,, +GARD:17698,Active,Orphanet,ORPHA:420702,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,,"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.",[617014],,,,,,,, +GARD:17699,Active,Orphanet,ORPHA:420728,Disorder,[Disease],Combined oxidative phosphorylation defect type 20,[COXPD20],"Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).",[615917],,,,,,,, +GARD:177,Active,Orphanet,ORPHA:2432,Disorder,[Malformation syndrome],Macrosomia-microphthalmia-cleft palate syndrome,[Teebi-Al Saleh-Hassoon syndrome],"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.",[248110],,,,,Macrosomia with lethal microphthalmia,TRUE,FALSE,Active +GARD:17700,Active,Orphanet,ORPHA:420733,Disorder,[Disease],Combined oxidative phosphorylation defect type 21,[COXPD21],"Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.",[615918],,,,,,,, +GARD:17701,Active,Orphanet,ORPHA:420741,Disorder,[Malformation syndrome],RIDDLE syndrome,"[RNF168 deficiency, Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome]","A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).",[611943],,,,,,,, +GARD:17702,Active,Orphanet,ORPHA:423384,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,,"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.",[616022],,,,,,,, +GARD:17703,Active,Orphanet,ORPHA:423454,Disorder,[Disease],Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,"[Ectodermal dysplasia-short stature syndrome, Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome]","Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.",[616029],,,,,,,, +GARD:17704,Active,Orphanet,ORPHA:423461,Subtype of disorder,[Clinical subtype],Mucolipidosis type III alpha/beta,"[ML 3 alpha/beta, ML III alpha/beta, Mucolipidosis type 3 alpha/beta]","Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.",[252600],,,,,,,, +GARD:17705,Active,Orphanet,ORPHA:423470,Subtype of disorder,[Clinical subtype],Mucolipidosis type III gamma,"[ML 3 gamma, ML III gamma, Mucolipidosis type 3 gamma]","Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.",[252605],,,,,,,, +GARD:17706,Active,Orphanet,ORPHA:424027,Disorder,[Disease],Progressive myoclonic epilepsy type 8,"[EPM8, PME type 8, Progressive myoclonic epilepsy due to CERS1 deficiency, Progressive myoclonus epilepsy type 8]","A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.",[616230],,,,,,,, +GARD:17707,Active,Orphanet,ORPHA:424099,Disorder,[Malformation syndrome],Colobomatous microphthalmia-rhizomelic dysplasia syndrome,[Microphthalmia-coloboma-rhizomelic skeletal dysplasia],"Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.",[615877],,,,,,,, +GARD:17708,Active,Orphanet,ORPHA:424261,Disorder,[Disease],TOR1AIP1-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive muscular dystrophy due to LAP1B deficiency, Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, LGMD type 2Y, LGMD2Y, Muscular dystrophy with progressive weakness, distal contractures and rigid spine, TOR1AIP1-related LGMD]","A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.",[617072],,,,,,,, +GARD:17709,Active,Orphanet,ORPHA:431140,Disorder,[Malformation syndrome],X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,[X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome],"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.",[300915],,,,,,,, +GARD:17710,Active,Orphanet,ORPHA:431149,Disorder,[Disease],Combined immunodeficiency due to OX40 deficiency,"[Combined immunodeficiency with childhood-onset Kaposi sarcoma, Combined immunodeficiency with impaired immunity to HHV-8, Combined immunodeficiency with impaired immunity to human herpes virus 8]","Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.",[615593],,,,,,,, +GARD:17711,Active,Orphanet,ORPHA:431166,Disorder,[Disease],Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,[Primary immunodeficiency with post-MMR vaccine viral infection],"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","[616636, 616669]",,,,,,,, +GARD:17712,Active,Orphanet,ORPHA:431329,Disorder,[Disease],Autosomal recessive spastic paraplegia type 57,"[SPG57, Spastic paraplegia due to partial TFG deficiency]","Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.",[615658],,,,,,,, +GARD:17713,Active,Orphanet,ORPHA:435329,Disorder,[Disease],Familial ossifying fibroma,[Multiple ossifying fibroma],"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.",[137575],,,,,,,, +GARD:17714,Active,Orphanet,ORPHA:435387,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Y,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, CMT2 due to VCP mutation, CMT2Y]","A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.",[616687],,,,,,,, +GARD:17715,Active,Orphanet,ORPHA:435438,Disorder,[Disease],Progressive myoclonic epilepsy type 7,"[EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7]","A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.",[616187],,,,,,,, +GARD:17716,Active,Orphanet,ORPHA:435628,Disorder,[Malformation syndrome],Keppen-Lubinsky syndrome,[Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome],"A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.",[614098],,,,,,,, +GARD:17717,Active,Orphanet,ORPHA:435804,Disorder,[Disease],Short stature-advanced bone age-early-onset osteoarthritis syndrome,,"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.",[165800],,,,,,,, +GARD:17718,Active,Orphanet,ORPHA:435845,Disorder,[Malformation syndrome],Lethal neonatal spasticity-epileptic encephalopathy syndrome,[Lethal neonatal rigidity-multifocal seizure syndrome],"A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.","[614498, 618056]",,,,,,,, +GARD:17719,Active,Orphanet,ORPHA:435930,Disorder,[Disease],Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,,"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.",[212550],,,,,,,, +GARD:17720,Active,Orphanet,ORPHA:435934,Disorder,[Disease],COG2-CDG,[COG2-related congenital disorder of glycosylation],"A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.",[617395],,,,,,,, +GARD:17721,Active,Orphanet,ORPHA:435938,Disorder,[Malformation syndrome],X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,,"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.",[300998],,,,,,,, +GARD:17722,Active,Orphanet,ORPHA:435953,Disorder,[Disease],Progeroid features-hepatocellular carcinoma predisposition syndrome,[Ruijs-Aalfs syndrome],"A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.",[616200],,,,,,,, +GARD:17723,Active,Orphanet,ORPHA:435998,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,[RI-CMT type D],"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.",[616039],,,,,,,, +GARD:17724,Active,Orphanet,ORPHA:436151,Disorder,[Disease],Intellectual disability-expressive aphasia-facial dysmorphism syndrome,[Intellectual disability-loss of expressive language-facial dysmorphism syndrome],"A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.","[616078, 616083]",,,,,,,, +GARD:17725,Active,Orphanet,ORPHA:436166,Disorder,[Disease],Periodic fever-infantile enterocolitis-autoinflammatory syndrome,"[NLRC4-related MAS, NLRC4-related autoinflammatory syndrome with MAS, NLRC4-related autoinflammatory syndrome with macrophage activation syndrome, NLRC4-related infantile enterocolitis-autoinflammatory syndrome, NLRC4-related macrophage activation syndrome]","A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.",[616050],,,,,,,, +GARD:17726,Active,Orphanet,ORPHA:436169,Disorder,[Disease],Thrombomodulin-related bleeding disorder,"[THBD-related bleeding disorder, THBD-related coagulopathy, Thrombomodulin-related coagulopathy]","A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.",[614486],,,,,,,, +GARD:17727,Active,Orphanet,ORPHA:436174,Disorder,[Disease],Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,[CAGSSS],"A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.",[616007],,,,,,,, +GARD:17728,Active,Orphanet,ORPHA:436182,Disorder,[Malformation syndrome],Microcephalic primordial dwarfism-insulin resistance syndrome,,"A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.","[616541, 617253]",,,,,,,, +GARD:17729,Active,Orphanet,ORPHA:436242,Disorder,[Disease],Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,,"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.",[616117],,,,,,,, +GARD:17730,Active,Orphanet,ORPHA:436245,Disorder,[Disease],Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,[Retinal dystrophy-juvenile cataract-short stature syndrome],"A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).",[616108],,,,,,,, +GARD:17731,Active,Orphanet,ORPHA:436252,Disorder,[Disease],Combined immunodeficiency-enteropathy spectrum,[CID-MIA/early-onset IBD],"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.",[243150],,,,,,,, +GARD:17732,Active,Orphanet,ORPHA:437552,Disorder,[Disease],Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,"[Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, CD16 deficiency]","A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.",[615707],,,,,,,, +GARD:17733,Active,Orphanet,ORPHA:438075,Disorder,[Disease],Ketoacidosis due to monocarboxylate transporter-1 deficiency,,"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.",[616095],,,,,,,, +GARD:17734,Active,Orphanet,ORPHA:438114,Disorder,[Disease],RARS-related autosomal recessive hypomyelinating leukodystrophy,,"A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.",[616140],,,,,,,, +GARD:17735,Active,Orphanet,ORPHA:438117,Disorder,[Disease],Steel syndrome,[Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome],"A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.",[615155],,,,,,,, +GARD:17736,Active,Orphanet,ORPHA:438134,Disorder,[Disease],PCNA-related progressive neurodegenerative photosensitivity syndrome,,"PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.",[615919],,,,,,,, +GARD:17737,Active,Orphanet,ORPHA:438159,Disorder,[Disease],STAT3-related early-onset multisystem autoimmune disease,,"A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.",[615952],,,,,,,, +GARD:17738,Active,Orphanet,ORPHA:438207,Disorder,[Disease],Severe autosomal recessive macrothrombocytopenia,,"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.",[616176],,,,,,,, +GARD:17739,Active,Orphanet,ORPHA:438213,Disorder,[Disease],PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,,"A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.",[616158],,,,,,,, +GARD:17740,Active,Orphanet,ORPHA:438216,Subtype of disorder,[Etiological subtype],PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,,,[616158],,,,,,,, +GARD:17741,Active,Orphanet,ORPHA:439254,Disorder,[Disease],ITM2B amyloidosis,"[Familial cerebral amyloid angiopathy, ITM2B-related amyloidosis, ITM2B-related cerebral amyloid angiopathy]","A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.","[117300, 176500]",,,,,,,, +GARD:17742,Active,Orphanet,ORPHA:439822,Disorder,[Malformation syndrome],PDE4D haploinsufficiency syndrome,,"PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.",[615668],,,,,,,, +GARD:17743,Active,Orphanet,ORPHA:439897,Disorder,[Malformation syndrome],Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,,"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.",[616258],,,,,,,, +GARD:17744,Active,Orphanet,ORPHA:440392,Disorder,[Disease],Interstitial lung disease due to SP-C deficiency,[Interstitial lung disease due to surfactant protein C deficiency],"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.",[610913],,,,,,,, +GARD:17745,Active,Orphanet,ORPHA:440402,Disorder,[Disease],Interstitial lung disease due to ABCA3 deficiency,[Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency],"Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.",[610921],,,,,,,, +GARD:17746,Active,Orphanet,ORPHA:440427,Disorder,[Disease],Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,"[Hereditary pulmonary alveolar proteinosis with hepatic involvement, Interstitial lung and liver disease, PAP, Reunion island type, Pulmonary alveolar proteinosis, Reunion island type]","A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.",[615486],,,,,,,, +GARD:17747,Active,Orphanet,ORPHA:440706,Disorder,[Disease],Ribose-5-P isomerase deficiency,,"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.",[608611],,,,,,,, +GARD:17748,Active,Orphanet,ORPHA:440731,Disorder,[Biological anomaly],L-ferritin deficiency,,"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.",[615604],,,,,,,, +GARD:17749,Active,Orphanet,ORPHA:443057,Subtype of disorder,[Clinical subtype],Sporadic porphyria cutanea tarda,[Porphyria cutanea tarda type I],,[176090],,,,,,,, +GARD:17750,Active,Orphanet,ORPHA:443062,Subtype of disorder,[Clinical subtype],Familial porphyria cutanea tarda,[Porphyria cutanea tarda type II],,[176100],,,,,,,, +GARD:17751,Active,Orphanet,ORPHA:443073,Disorder,[Disease],Charcot-Marie-Tooth disease type 2S,[CMT2S],"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.",[616155],,,,,,,, +GARD:17752,Active,Orphanet,ORPHA:443087,Disorder,[Disease],"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",,,[614279],,,,,,,, +GARD:17753,Active,Orphanet,ORPHA:443098,Disorder,[Disease],Hyperostosis cranialis interna,,"A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.",[144755],,,,,,,, +GARD:17754,Active,Orphanet,ORPHA:443192,Subtype of disorder,[Clinical subtype],Classic stiff person syndrome,[Classic SPS],,[184850],,,,,,,, +GARD:17755,Active,Orphanet,ORPHA:443197,Disorder,[Disease],X-linked erythropoietic protoporphyria,"[X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLPP]","A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc- and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.",[300752],,,,,,,, +GARD:17756,Active,Orphanet,ORPHA:443804,Subtype of disorder,[Clinical subtype],Focal stiff limb syndrome,"[Focal stiff-person syndrome, Stiff leg syndrome]",,[184850],,,,,,,, +GARD:17757,Active,Orphanet,ORPHA:443988,Disorder,[Disease],Ventriculomegaly-cystic kidney disease,"[Congenital nephrosis-cerebral ventriculomegaly syndrome, VMCKD]","A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.",[219730],,,,,,,, +GARD:17758,Active,Orphanet,ORPHA:443995,Disorder,[Malformation syndrome],Mandibulofacial dysostosis with alopecia,[MFDA],"A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.",[616367],,,,,,,, +GARD:17759,Active,Orphanet,ORPHA:444013,Disorder,[Disease],Combined oxidative phosphorylation defect type 23,[COXPD23],"A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.",[616198],,,,,,,, +GARD:17760,Active,Orphanet,ORPHA:444048,Disorder,[Disease],"46,XX ovarian dysgenesis-short stature syndrome",,"A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.",[616185],,,,,,,, +GARD:17761,Active,Orphanet,ORPHA:444072,Disorder,[Malformation syndrome],Cerebellar-facial-dental syndrome,[Cerebellofaciodental syndrome],"A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.",[616202],,,,,,,, +GARD:17762,Active,Orphanet,ORPHA:444092,Disorder,[Disease],Autoimmune interstitial lung disease-arthritis syndrome,[COPA syndrome],"A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.",[616414],,,,,,,, +GARD:17763,Active,Orphanet,ORPHA:444099,Disorder,[Disease],Autosomal dominant spastic paraplegia type 73,[SPG73],"A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.",[616282],,,,,,,, +GARD:17764,Active,Orphanet,ORPHA:444138,Disorder,[Disease],Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,[PLACK syndrome],"A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis, and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.",[616295],,,,,,,, +GARD:17765,Active,Orphanet,ORPHA:444458,Disorder,[Disease],Combined oxidative phosphorylation defect type 24,[COXPD24],"Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.",[616239],,,,,,,, +GARD:17766,Active,Orphanet,ORPHA:444463,Disorder,[Disease],Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,"[Evans syndrome associated with primary immunodeficiency, TPPII deficiency, TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, TRIANGLE disease, Tripeptidyl-peptidase II deficiency]","A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.",[619220],,,,,,,, +GARD:17767,Active,Orphanet,ORPHA:445038,Disorder,[Disease],3-methylglutaconic aciduria type 7,"[3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, MGA7]","A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.",[616271],,,,,,,, +GARD:17768,Active,Orphanet,ORPHA:445062,Disorder,[Disease],Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,"[Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome, Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome]","A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.",[616192],,,,,,,, +GARD:17769,Active,Orphanet,ORPHA:445110,Disorder,[Disease],Limb-girdle muscular dystrophy due to POMK deficiency,[LGMD due to POMK deficiency],"Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.",[616094],,,,,,,, +GARD:17770,Active,Orphanet,ORPHA:447760,Disorder,[Disease],Autosomal recessive spastic paraplegia type 9B,[AR-SPG9B],"A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.",[616586],,,,,,,, +GARD:17771,Active,Orphanet,ORPHA:447784,Disorder,[Disease],Mitochondrial pyruvate carrier deficiency,,"A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).",[614741],,,,,,,, +GARD:17772,Active,Orphanet,ORPHA:447877,Subtype of disorder,[Clinical subtype],Polymerase proofreading-related adenomatous polyposis,[PPAP],,"[612591, 615083]",,,,,,,, +GARD:17773,Active,Orphanet,ORPHA:447893,Subtype of disorder,[Clinical subtype],Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,,,[607694],,,,,,,, +GARD:17774,Active,Orphanet,ORPHA:447896,Subtype of disorder,[Clinical subtype],Tremor-ataxia-central hypomyelination syndrome,[TACH syndrome],,[607694],,,,,,,, +GARD:17775,Active,Orphanet,ORPHA:447954,Disorder,[Disease],Combined oxidative phosphorylation defect type 25,[COXPD25],"Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.",[616430],,,,,,,, +GARD:17776,Active,Orphanet,ORPHA:447961,Disorder,[Disease],Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,,"A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.",[618373],,,,,,,, +GARD:17777,Active,Orphanet,ORPHA:447964,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2V,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation, CMT2V, Hereditary adult-onset painful axonal polyneuropathy]","A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.",[616491],,,,,,,, +GARD:17778,Active,Orphanet,ORPHA:447974,Disorder,[Malformation syndrome],Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,,"A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.",[616549],,,,,,,, +GARD:17779,Active,Orphanet,ORPHA:447977,Disorder,[Disease],Progressive scapulohumeroperoneal distal myopathy,,"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.",[616852],,,,,,,, +GARD:17780,Active,Orphanet,ORPHA:448251,Disorder,[Disease],Progressive autosomal recessive ataxia-deafness syndrome,"[Lichtenstein-Knorr syndrome, Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, SCAR19]","A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.",[616291],,,,,,,, +GARD:17781,Active,Orphanet,ORPHA:448264,Disorder,[Disease],Isolated focal non-epidermolytic palmoplantar keratoderma,,"A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.","[616400, 613000]",,,,,,,, +GARD:17782,Active,Orphanet,ORPHA:448267,Disorder,[Malformation syndrome],Regressive spondylometaphyseal dysplasia,,"Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.",[618019],,,,,,,, +GARD:17783,Active,Orphanet,ORPHA:449291,Disorder,[Disease],Symptomatic form of fragile X syndrome in female carriers,,"A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).",[300624],,,,,,,, +GARD:17784,Active,Orphanet,ORPHA:451612,Disorder,[Morphological anomaly],Familial congenital nasolacrimal duct obstruction,,"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.",[149700],,,,,,,, +GARD:17785,Active,Orphanet,ORPHA:453499,Disorder,[Malformation syndrome],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,[Au-Kline syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.",[616580],,,,,,,, +GARD:17786,Active,Orphanet,ORPHA:453521,Disorder,[Disease],Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,"[SCAR17, Spinocerebellar ataxia autosomal recessive type 17]","A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.",[616127],,,,,,,, +GARD:17787,Active,Orphanet,ORPHA:453533,Disorder,[Disease],Polyendocrine-polyneuropathy syndrome,,"A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.",[616113],,,,,,,, +GARD:17788,Active,Orphanet,ORPHA:454700,Group of disorders,[Clinical group],Acquired Creutzfeldt-Jakob disease,,"A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).",[123400],,,,,,,, +GARD:17789,Active,Orphanet,ORPHA:454821,Subtype of disorder,[Histopathological subtype],Pleomorphic salivary gland adenoma,,"A rare tumor of salivary glands characterized by a benign, well-circumscribed, slow-growing, painless mass most commonly occurring in the parotid gland (but also the palate, submandibular gland, or nasal septal mucosa), histopathologically composed of epithelial and myoepithelial / stromal components. Possible signs and symptoms depend on the location of the tumor and include facial nerve weakness, mild dysphagia, or unilateral nasal obstruction. Recurrence rates are low, although tumor rupture and spillage have been reported. Malignant transformation may occur in a small percentage of cases.",[181030],,,,,,,, +GARD:17790,Active,Orphanet,ORPHA:454840,Subtype of disorder,[Clinical subtype],NTHL1-related attenuated familial adenomatous polyposis,"[NTHL1-related AFAP, NTHL1-related attenuated FAP]",,[616415],,,,,,,, +GARD:17791,Active,Orphanet,ORPHA:456312,Disorder,[Disease],Infantile multisystem neurologic-endocrine-pancreatic disease,[IMNEPD],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.",[616263],,,,,,,, +GARD:17792,Active,Orphanet,ORPHA:456328,Disorder,[Disease],X-linked myotubular myopathy-abnormal genitalia syndrome,[Xq28 contiguous gene deletion syndrome],"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.",[300219],,,,,,,, +GARD:17793,Active,Orphanet,ORPHA:456369,Disorder,[Disease],Polyglucosan body myopathy type 2,,A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.,[616199],,,,,,,, +GARD:17794,Active,Orphanet,ORPHA:457050,Disorder,[Disease],Autosomal dominant mitochondrial myopathy with exercise intolerance,,"A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.",[616209],,,,,,,, +GARD:17795,Active,Orphanet,ORPHA:457088,Disorder,[Disease],Predisposition to invasive fungal disease due to CARD9 deficiency,[Invasive candidiasis-deep dermatophytosis syndrome],"A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.",[212050],,,,,,,, +GARD:17796,Active,Orphanet,ORPHA:457185,Disorder,[Disease],Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,[COQ4-related neonatal encephalomyopathy],"A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.",[616276],,,,,,,, +GARD:17797,Active,Orphanet,ORPHA:457193,Disorder,[Malformation syndrome],Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,,"A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.",[616268],,,,,,,, +GARD:17798,Active,Orphanet,ORPHA:457212,Disorder,[Disease],Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,,"A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.",[616269],,,,,,,, +GARD:17799,Active,Orphanet,ORPHA:457223,Disorder,[Disease],Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,"[Syndromic sensorineural deafness due to COXPD, Syndromic sensorineural hearing loss due to COXPD]","A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.",[617872],,,,,,,, +GARD:178,Active,Orphanet,ORPHA:2563,Disorder,[Malformation syndrome],MOMO syndrome,"[Macrocephaly-obesity-mental disability-ocular abnormalities syndrome, Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome]","MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.",[157980],,,,,MOMO syndrome,TRUE,FALSE,Active +GARD:17800,Active,Orphanet,ORPHA:457240,Disorder,[Malformation syndrome],X-linked intellectual disability-short stature-overweight syndrome,,"X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.",[300957],,,,,,,, +GARD:17801,Active,Orphanet,ORPHA:457265,Disorder,[Disease],Progressive myoclonic epilepsy type 9,"[EPM9, PME type 9, Progressive myoclonic epilepsy due to LMNB2 deficiency, Progressive myoclonus epilepsy type 9]","A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).",[616540],,,,,,,, +GARD:17802,Active,Orphanet,ORPHA:457279,Disorder,[Malformation syndrome],Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,,"A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.",[616355],,,,,,,, +GARD:17803,Active,Orphanet,ORPHA:457284,Disorder,[Malformation syndrome],Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.",[616362],,,,,,,, +GARD:17804,Active,Orphanet,ORPHA:457351,Disorder,[Malformation syndrome],Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,[Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome],"A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.",[616577],,,,,,,, +GARD:17805,Active,Orphanet,ORPHA:457359,Disorder,[Malformation syndrome],Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.",[617011],,,,,,,, +GARD:17806,Active,Orphanet,ORPHA:457375,Disorder,[Disease],ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,[Martsolf-like syndrome],"A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.",[616647],,,,,,,, +GARD:17807,Active,Orphanet,ORPHA:457378,Disorder,[Malformation syndrome],Complex lethal osteochondrodysplasia,"[Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type]","A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.",[616897],,,,,,,, +GARD:17808,Active,Orphanet,ORPHA:457395,Disorder,[Malformation syndrome],Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.",[616723],,,,,,,, +GARD:17809,Active,Orphanet,ORPHA:457406,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 4,[MMDS4],"A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.",[616370],,,,,,,, +GARD:17810,Active,Orphanet,ORPHA:458798,Disorder,[Disease],Spinocerebellar ataxia type 41,[SCA41],Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.,[616410],,,,,,,, +GARD:17811,Active,Orphanet,ORPHA:458803,Disorder,[Disease],Spinocerebellar ataxia type 42,[SCA42],"Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.",[616795],,,,,,,, +GARD:17812,Active,Orphanet,ORPHA:459051,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Stanescu type","[SED, Stanescu type]","A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.",[616583],,,,,,,, +GARD:17813,Active,Orphanet,ORPHA:459056,Disorder,[Disease],Autosomal recessive spastic paraplegia type 75,[SPG75],"Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.",[616680],,,,,,,, +GARD:17814,Active,Orphanet,ORPHA:459061,Disorder,[Malformation syndrome],Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,"[Developmental delay-short stature-dysmorphic features-sparse hair syndrome, Loucks-Innes syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.",[616901],,,,,,,, +GARD:17815,Active,Orphanet,ORPHA:459070,Disorder,[Malformation syndrome],X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.",[300998],,,,,,,, +GARD:17816,Active,Orphanet,ORPHA:464282,Disorder,[Disease],Spastic paraplegia-severe developmental delay-epilepsy syndrome,"[SPPRS syndrome, Spastic paraplegia-psychomotor retardation-seizures syndrome]","Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.",[616756],,,,,,,, +GARD:17817,Active,Orphanet,ORPHA:464288,Disorder,[Malformation syndrome],Short stature-brachydactyly-obesity-global developmental delay syndrome,[SBIDDS],"A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.",[617157],,,,,,,, +GARD:17818,Active,Orphanet,ORPHA:464366,Disorder,[Malformation syndrome],NEK9-related lethal skeletal dysplasia,[Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome],"NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.",[617022],,,,,,,, +GARD:17819,Active,Orphanet,ORPHA:464440,Disorder,[Disease],"Primary dystonia, DYT27 type",,"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.",[616411],,,,,,,, +GARD:17820,Active,Orphanet,ORPHA:464724,Disorder,[Disease],Fever-associated acute infantile liver failure syndrome,,"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","[618641, 616483]",,,,,,,, +GARD:17821,Active,Orphanet,ORPHA:464738,Disorder,[Malformation syndrome],Basel-Vanagaite-Smirin-Yosef syndrome,,"A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.",[616449],,,,,,,, +GARD:17822,Active,Orphanet,ORPHA:464760,Disorder,[Morphological anomaly],Familial cavitary optic disc anomaly,[Familial CODA],"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.",[611543],,,,,,,, +GARD:17823,Active,Orphanet,ORPHA:465824,Disorder,[Malformation syndrome],Fetal encasement syndrome,,"Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.",[613630],,,,,,,, +GARD:17824,Active,Orphanet,ORPHA:466688,Disorder,[Malformation syndrome],Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,,"A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.",[616819],,,,,,,, +GARD:17825,Active,Orphanet,ORPHA:466703,Disorder,[Disease],TMEM199-CDG,"[CDG syndrome type IIp, CDG-IIp, CDG2P, Carbohydrate deficient glycoprotein syndrome type IIp, Congenital disorder of glycosylation type 2p, Congenital disorder of glycosylation type IIp]","A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.",[616829],,,,,,,, +GARD:17826,Active,Orphanet,ORPHA:466718,Disorder,[Disease],Martinique crinkled retinal pigment epitheliopathy,[MCRPE],"A rare, genetic retinal disease characterized by characteristic ""dried-out soil"" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.",[617111],,,,,,,, +GARD:17827,Active,Orphanet,ORPHA:466722,Disorder,[Disease],Autosomal recessive spastic paraplegia type 77,[SPG77],"Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.",[617046],,,,,,,, +GARD:17828,Active,Orphanet,ORPHA:466729,Disorder,[Morphological anomaly],Familial patent arterial duct,,"Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.","[607411, 617035, 617039]",,,,,,,, +GARD:17829,Active,Orphanet,ORPHA:466768,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Z,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation, CMT2Z]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.",[616688],,,,,,,, +GARD:17830,Active,Orphanet,ORPHA:466775,Disorder,[Disease],Autosomal recessive Charcot-Marie-Tooth disease type 2X,"[ARCMT2X, Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation, CMT2X]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.",[616668],,,,,,,, +GARD:17831,Active,Orphanet,ORPHA:466784,Disorder,[Disease],Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,"[COXPD28, Combined oxidative phosphorylation defect type 28]","A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.",[616794],,,,,,,, +GARD:17832,Active,Orphanet,ORPHA:466791,Disorder,[Malformation syndrome],Macrocephaly-intellectual disability-left ventricular non compaction syndrome,,"Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.",[300967],,,,,,,, +GARD:17833,Active,Orphanet,ORPHA:466794,Disorder,[Disease],Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,"[Autosomal recessive spinocerebellar ataxia type 21, SCAR21]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.",[616719],,,,,,,, +GARD:17834,Active,Orphanet,ORPHA:466801,Disorder,[Disease],LIMS2-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy type 2W, LGMD type 2W, LGMD2W, LIMS2-related LGM, Limb-girdle muscular dystrophy type 2W]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.",[616827],,,,,,,, +GARD:17835,Active,Orphanet,ORPHA:466806,Disorder,[Disease],Autosomal dominant thrombocytopenia with platelet secretion defect,,"A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.","[616913, 619130]",,,,,,,, +GARD:17836,Active,Orphanet,ORPHA:466926,Disorder,[Disease],Seizures-scoliosis-macrocephaly syndrome,[SSM syndrome],"Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.",[616682],,,,,,,, +GARD:17837,Active,Orphanet,ORPHA:466934,Disorder,[Disease],VPS11-related autosomal recessive hypomyelinating leukodystrophy,[VPS11-related autosomal recessive hypomyelinating leukoencephalopathy],"A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.",[616683],,,,,,,, +GARD:17838,Active,Orphanet,ORPHA:466943,Disorder,[Malformation syndrome],WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,,"A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.",[616708],,,,,,,, +GARD:17839,Active,Orphanet,ORPHA:466950,Subtype of disorder,[Clinical subtype],Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,,,[616708],,,,,,,, +GARD:17840,Active,Orphanet,ORPHA:467176,Disorder,[Disease],Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,,"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.",[616816],,,,,,,, +GARD:17841,Active,Orphanet,ORPHA:468631,Disorder,[Malformation syndrome],Microcephalic cortical malformations-short stature due to RTTN deficiency,,"A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.",[614833],,,,,,,, +GARD:17842,Active,Orphanet,ORPHA:468661,Disorder,[Disease],Autosomal recessive spastic paraplegia type 74,[SPG74],"Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.",[616451],,,,,,,, +GARD:17843,Active,Orphanet,ORPHA:468666,Disorder,[Disease],Isolated generalized anhidrosis with normal sweat glands,,"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.",[106190],,,,,,,, +GARD:17844,Active,Orphanet,ORPHA:468672,Disorder,[Disease],Colobomatous macrophthalmia-microcornea syndrome,[MACOM syndrome],"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.",[602499],,,,,,,, +GARD:17845,Active,Orphanet,ORPHA:468684,Disorder,[Disease],CCDC115-CDG,"[CDG syndrome type IIo, CDG-IIo, CDG2O, Carbohydrate deficient glycoprotein syndrome type IIo, Congenital disorder of glycosylation type 2o, Congenital disorder of glycosylation type IIo]","A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.",[616828],,,,,,,, +GARD:17846,Active,Orphanet,ORPHA:468699,Disorder,[Disease],SLC39A8-CDG,"[CDG syndrome type IIn, CDG-IIn, CDG2N, Carbohydrate deficient glycoprotein syndrome type IIn, Congenital disorder of glycosylation type 2n, Congenital disorder of glycosylation type IIn, SLC39A8 deficiency]","A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.",[616721],,,,,,,, +GARD:17847,Active,Orphanet,ORPHA:476084,Disorder,[Disease],BVES-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, BVES-related LGMD, LGMD type 2X, LGMD2X, Limb-girdle muscular dystrophy 2X]","A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.",[616812],,,,,,,, +GARD:17848,Active,Orphanet,ORPHA:476102,Disorder,[Disease],Hereditary pediatric Behçet-like disease,"[Behçet-like disease due to HA20, Behçet-like disease due to haploinsufficiency of A20]","A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).",[616744],,,,,,,, +GARD:17849,Active,Orphanet,ORPHA:476113,Disorder,[Disease],Combined immunodeficiency due to TFRC deficiency,"[CID due to TFRC deficiency, TFRC-related combined immunodeficiency]","A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.",[616740],,,,,,,, +GARD:17850,Active,Orphanet,ORPHA:476126,Disorder,[Malformation syndrome],Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.",[617061],,,,,,,, +GARD:17851,Active,Orphanet,ORPHA:476394,Disorder,[Disease],PMP2-related Charcot-Marie-Tooth disease type 1,"[PMP2-related CMT1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related hereditary motor and sensory neuropathy type 1]","A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.",[618279],,,,,,,, +GARD:17852,Active,Orphanet,ORPHA:477661,Disorder,[Disease],IL21-related infantile inflammatory bowel disease,[IL21-related infantile IBD],"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.",[615767],,,,,,,, +GARD:17853,Active,Orphanet,ORPHA:477673,Disorder,[Disease],Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,,"A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.",[616281],,,,,,,, +GARD:17854,Active,Orphanet,ORPHA:477684,Disorder,[Disease],Combined oxidative phosphorylation defect type 26,[COXPD26],"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.",[616539],,,,,,,, +GARD:17855,Active,Orphanet,ORPHA:477749,Disorder,[Disease],Pontine autosomal dominant microangiopathy with leukoencephalopathy,[PADMAL],"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.",[618564],,,,,,,, +GARD:17856,Active,Orphanet,ORPHA:477774,Disorder,[Disease],Combined oxidative phosphorylation defect type 27,[COXPD27],"A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.",[616672],,,,,,,, +GARD:17857,Active,Orphanet,ORPHA:477787,Disorder,[Disease],Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,"[PLA2G4A-related platelet dysfunction, Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency]","A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.",[618372],,,,,,,, +GARD:17858,Active,Orphanet,ORPHA:477814,Disorder,[Malformation syndrome],Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,,"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.",[616632],,,,,,,, +GARD:17859,Active,Orphanet,ORPHA:477817,Disorder,[Malformation syndrome],PMP22-RAI1 contiguous gene duplication syndrome,"[17p11.2p12 microduplication syndrome, Dup(17)(p11.2p12), Trisomy 17p11.2-p12, Trisomy 17p11.2p12, Yuan-Harel-Lupski syndrome]","A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.",[616652],,,,,,,, +GARD:17860,Active,Orphanet,ORPHA:477831,Disorder,[Malformation syndrome],Kosaki overgrowth syndrome,[Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.",[616592],,,,,,,, +GARD:17861,Active,Orphanet,ORPHA:477857,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,"[Autosomal recessive MSMD due to complete RORgamma receptor defiency, Autosomal recessive primary immunodeficiency due to RORC mutation]","A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.",[616622],,,,,,,, +GARD:17862,Active,Orphanet,ORPHA:477993,Disorder,[Malformation syndrome],Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,[Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome],"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.",[616728],,,,,,,, +GARD:17863,Active,Orphanet,ORPHA:478029,Disorder,[Disease],Combined oxidative phosphorylation defect type 29,[COXPD29],"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.",[616811],,,,,,,, +GARD:17864,Active,Orphanet,ORPHA:478042,Disorder,[Disease],Combined oxidative phosphorylation defect type 30,[COXPD30],"A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.",[616974],,,,,,,, +GARD:17865,Active,Orphanet,ORPHA:478049,Disorder,[Disease],Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,,"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.",[617228],,,,,,,, +GARD:17866,Active,Orphanet,ORPHA:478664,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 8,"[HSAN8, Hereditary sensory and autonomic neuropathy type VIII]","A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.",[616488],,,,,,,, +GARD:17867,Active,Orphanet,ORPHA:480476,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 5,"[NR1H4 deficiency, PFIC5]",,[617049],,,,,,,, +GARD:17868,Active,Orphanet,ORPHA:480536,Subtype of disorder,[Clinical subtype],MSH3-related attenuated familial adenomatous polyposis,"[MSH3-related AFAP, MSH3-related attenuated FAP, MSH3-related attenuated familial polyposis coli]",,[617100],,,,,,,, +GARD:17869,Active,Orphanet,ORPHA:480682,Disorder,[Disease],POGLUT1-related limb-girdle muscular dystrophy R21,"[Autosomal recessive limb-girdle muscular dystrophy type 2Z, LGMD type 2Z, LGMD2Z, Limb-girdle muscular dystrophy type 2Z, POGLUT1-related LGMD R21]","A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.",[617232],,,,,,,, +GARD:17870,Active,Orphanet,ORPHA:480851,Disorder,[Disease],Hereditary thrombocytopenia with early-onset myelofibrosis,,"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.",[616937],,,,,,,, +GARD:17871,Active,Orphanet,ORPHA:480898,Disorder,[Disease],Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,,"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).",[616875],,,,,,,, +GARD:17872,Active,Orphanet,ORPHA:480907,Disorder,[Malformation syndrome],X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.",[300966],,,,,,,, +GARD:17873,Active,Orphanet,ORPHA:481152,Disorder,[Malformation syndrome],PYCR2-related microcephaly-progressive leukoencephalopathy,,"PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.",[616420],,,,,,,, +GARD:17874,Active,Orphanet,ORPHA:481662,Disorder,[Disease],Familial Chilblain lupus,,"A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.","[614415, 610448]",,,,,,,, +GARD:17875,Active,Orphanet,ORPHA:481665,Disorder,[Disease],USP18 deficiency,,"A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.",[617397],,,,,,,, +GARD:17876,Active,Orphanet,ORPHA:481986,Subtype of disorder,[Etiological subtype],Familial schizencephaly,,,[269160],,,,,,,, +GARD:17877,Active,Orphanet,ORPHA:482077,Disorder,[Disease],HTRA1-related autosomal dominant cerebral small vessel disease,[HTRA1-related autosomal dominant cerebral angiopathy],"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.",[616779],,,,,,,, +GARD:17878,Active,Orphanet,ORPHA:482601,Disorder,[Disease],Adenylosuccinate synthetase-like 1-related distal myopathy,[ADSSL1-related distal myopathy],"A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.",[617030],,,,,,,, +GARD:17879,Active,Orphanet,ORPHA:485275,Subtype of disorder,[Etiological subtype],Acquired schizencephaly,,,[269160],,,,,,,, +GARD:17880,Active,Orphanet,ORPHA:485350,Disorder,[Disease],CLCN4-related X-linked intellectual disability syndrome,[Raynaud-Claes syndrome],"A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.",[300114],,,,,,,, +GARD:17881,Active,Orphanet,ORPHA:485421,Subtype of disorder,[Etiological subtype],MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,"[Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome, Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome]",,[617086],,,,,,,, +GARD:17882,Active,Orphanet,ORPHA:486811,Disorder,[Disease],Prenatal-onset spinal muscular atrophy with congenital bone fractures,[SMABF],"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","[616867, 616866]",,,,,,,, +GARD:17883,Active,Orphanet,ORPHA:486815,Disorder,[Disease],Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,"[Congenital muscular dystrophy, Davignon-Chauveau type]","A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.",[617066],,,,,,,, +GARD:17884,Active,Orphanet,ORPHA:487796,Disorder,[Malformation syndrome],Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,[Takenouchi-Kosaki syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.",[616737],,,,,,,, +GARD:17885,Active,Orphanet,ORPHA:487825,Disorder,[Malformation syndrome],Pierpont syndrome,"[Plantar lipomatosis-facial dysmorphism-developmental delay syndrome, Plantar lipomatosis-unusual facies-developmental delay syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.",[602342],,,,,,,, +GARD:17886,Active,Orphanet,ORPHA:488168,Disorder,[Malformation syndrome],Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,"[SMO deficiency, Sterol-C4-methyl oxidase deficiency]","A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.",[616834],,,,,,,, +GARD:17887,Active,Orphanet,ORPHA:488191,Disorder,[Disease],Female infertility due to oocyte meiotic arrest,,"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.","[619009, 617743, 619176, 619011, 616780]",,,,,,,, +GARD:17888,Active,Orphanet,ORPHA:488197,Disorder,[Disease],Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,,"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.",[616722],,,,,,,, +GARD:17889,Active,Orphanet,ORPHA:488232,Disorder,[Malformation syndrome],Split-foot malformation-mesoaxial polydactyly syndrome,"[SFMMP, Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome]","A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.",[616890],,,,,,,, +GARD:17890,Active,Orphanet,ORPHA:488280,Disorder,[Disease],14q32 duplication syndrome,"[Dup(14)q(32), Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, Trisomy 14q32]","14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.",[616604],,,,,,,, +GARD:17891,Active,Orphanet,ORPHA:488333,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2W,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation, CMT2W]","A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.",[616625],,,,,,,, +GARD:17892,Active,Orphanet,ORPHA:488594,Disorder,[Disease],Autosomal recessive spastic paraplegia type 76,[SPG76],"Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.",[616907],,,,,,,, +GARD:17893,Active,Orphanet,ORPHA:488613,Disorder,[Malformation syndrome],Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,,"A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.",[616973],,,,,,,, +GARD:17894,Active,Orphanet,ORPHA:488618,Disorder,[Malformation syndrome],Transketolase deficiency,"[Short stature-developmental delay-congenital heart defect syndrome, TKT deficiency]","A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).",[617044],,,,,,,, +GARD:17895,Active,Orphanet,ORPHA:488627,Disorder,[Malformation syndrome],Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.",[617051],,,,,,,, +GARD:17896,Active,Orphanet,ORPHA:488632,Disorder,[Malformation syndrome],TBCK-related intellectual disability syndrome,,"TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.",[616900],,,,,,,, +GARD:17897,Active,Orphanet,ORPHA:488635,Disorder,[Disease],Early-onset epilepsy-intellectual disability-brain anomalies syndrome,"[Congenital disorder of glycosylation due to PIGG deficiency, PIGG-CDG]","A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.",[616917],,,,,,,, +GARD:17898,Active,Orphanet,ORPHA:488642,Disorder,[Malformation syndrome],TELO2-related intellectual disability-neurodevelopmental disorder,[You-Hoover-Fong syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.",[616954],,,,,,,, +GARD:17899,Active,Orphanet,ORPHA:488647,Disorder,[Disease],DDX41-related hematologic malignancy predisposition syndrome,,"A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.",[616871],,,,,,,, +GARD:179,Legacy,GARD,,,,,,,,,,,,Macrothrombocytopenia progressive deafness,TRUE,FALSE,Active +GARD:17900,Active,Orphanet,ORPHA:488650,Disorder,[Disease],"Distal myopathy, Tateyama type",,"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.",[614321],,,,,,,, +GARD:17901,Active,Orphanet,ORPHA:493348,Disorder,[Disease],Vibratory angioedema,,"Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.",[125630],,,,,,,, +GARD:17902,Active,Orphanet,ORPHA:494344,Disorder,[Malformation syndrome],RERE-related neurodevelopmental syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.",[616975],,,,,,,, +GARD:17903,Active,Orphanet,ORPHA:494439,Disorder,[Malformation syndrome],Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,[Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.",[617763],,,,,,,, +GARD:17904,Active,Orphanet,ORPHA:494444,Disorder,[Disease],DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,[DIAPH1-related sensorineural deafness-thrombocytopenia syndrome],"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.",[124900],,,,,,,, +GARD:17905,Active,Orphanet,ORPHA:494526,Disorder,[Disease],Infantile-onset generalized dyskinesia with orofacial involvement,[Infantile-onset orofacial-trunk-limbs dyskinesia],"A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.",[616921],,,,,,,, +GARD:17906,Active,Orphanet,ORPHA:494541,Disorder,[Disease],Childhood-onset benign chorea with striatal involvement,,"A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.",[616922],,,,,,,, +GARD:17907,Active,Orphanet,ORPHA:494547,Disorder,[Disease],Squamous cell carcinoma of the hypopharynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.",[275355],,,,,,,, +GARD:17908,Active,Orphanet,ORPHA:494550,Disorder,[Disease],Squamous cell carcinoma of the larynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.",[275355],,,,,,,, +GARD:17909,Active,Orphanet,ORPHA:495274,Disorder,[Disease],Charcot-Marie-Tooth disease type 2T,"[AR-CMT2T, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T, CMT2T]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.",[617017],,,,,,,, +GARD:17910,Active,Orphanet,ORPHA:495844,Disorder,[Disease],C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,"[C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy, Hypomyelinating leukodystrophy due to hikeshi deficiency]","A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.",[616881],,,,,,,, +GARD:17911,Active,Orphanet,ORPHA:496641,Disorder,[Malformation syndrome],Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,,"A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.",[617193],,,,,,,, +GARD:17912,Active,Orphanet,ORPHA:496686,Disorder,[Disease],Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,,"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.",[617114],,,,,,,, +GARD:17913,Active,Orphanet,ORPHA:496751,Disorder,[Malformation syndrome],EVEN-plus syndrome,[Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.",[616854],,,,,,,, +GARD:17914,Active,Orphanet,ORPHA:496756,Disorder,[Disease],Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,,"A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.",[617207],,,,,,,, +GARD:17915,Active,Orphanet,ORPHA:496790,Disorder,[Disease],Ocular anomalies-axonal neuropathy-developmental delay syndrome,[Harel-Yoon syndrome],"A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.",[617183],,,,,,,, +GARD:17916,Active,Orphanet,ORPHA:497757,Disorder,[Disease],MME-related autosomal dominant Charcot Marie Tooth disease type 2,"[MME-related autosomal dominant CMT2, MME-related autosomal dominant hereditary motor and sensory neuropathy type 2]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.",[617017],,,,,,,, +GARD:17917,Active,Orphanet,ORPHA:497764,Disorder,[Disease],Spinocerebellar ataxia type 43,[SCA43],"Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.",[617017],,,,,,,, +GARD:17918,Active,Orphanet,ORPHA:497906,Disorder,[Disease],Childhood-onset basal ganglia degeneration syndrome,[Lenk-Ploski syndrome],"A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.",[617054],,,,,,,, +GARD:17919,Active,Orphanet,ORPHA:498497,Disorder,[Malformation syndrome],Short rib-polydactyly syndrome type 5,,,[614091],,,,,,,, +GARD:17920,Active,Orphanet,ORPHA:500055,Disorder,[Malformation syndrome],16p13.2 microdeletion syndrome,"[Del(16)(p13.2), Monosomy 16p13.2]","A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.",[616863],,,,,,,, +GARD:17921,Active,Orphanet,ORPHA:500095,Disorder,[Malformation syndrome],Tall stature-intellectual disability-renal anomalies syndrome,[Thauvin-Robinet-Faivre syndrome],"A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.",[617107],,,,,,,, +GARD:17922,Active,Orphanet,ORPHA:500135,Disorder,[Malformation syndrome],Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,[MARCH syndrome],"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.",[236500],,,,,,,, +GARD:17923,Active,Orphanet,ORPHA:500144,Disorder,[Malformation syndrome],Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,,"A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.",[617669],,,,,,,, +GARD:17924,Active,Orphanet,ORPHA:500159,Disorder,[Malformation syndrome],Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.",[617751],,,,,,,, +GARD:17925,Active,Orphanet,ORPHA:500166,Subtype of disorder,[Etiological subtype],SIN3A-related intellectual disability syndrome due to a point mutation,,,[613406],,,,,,,, +GARD:17926,Active,Orphanet,ORPHA:500188,Disorder,[Malformation syndrome],X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,,"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.",[301018],,,,,,,, +GARD:17927,Active,Orphanet,ORPHA:500464,Disorder,[Disease],Squamous cell carcinoma of the nasal cavity and paranasal sinuses,[Squamous cell carcinoma of the nasal cavity and sinuses],"A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.",[275355],,,,,,,, +GARD:17928,Active,Orphanet,ORPHA:500478,Disorder,[Disease],Squamous cell carcinoma of the oropharynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.",[275355],,,,,,,, +GARD:17929,Active,Orphanet,ORPHA:500481,Subtype of disorder,[Histopathological subtype],Squamous cell carcinoma of salivary glands,,,[275355],,,,,,,, +GARD:17930,Active,Orphanet,ORPHA:500545,Disorder,[Disease],Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,,"A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.",[617393],,,,,,,, +GARD:17931,Active,Orphanet,ORPHA:500548,Disorder,[Malformation syndrome],Osteosclerotic metaphyseal dysplasia,,"A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.",[615198],,,,,,,, +GARD:17932,Active,Orphanet,ORPHA:502363,Disorder,[Disease],Squamous cell carcinoma of the oral cavity,,"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.",[275355],,,,,,,, +GARD:17933,Active,Orphanet,ORPHA:502366,Disorder,[Disease],Squamous cell carcinoma of the lip,,"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.",[275355],,,,,,,, +GARD:17934,Active,Orphanet,ORPHA:502423,Disorder,[Disease],Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,[Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome],"A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.",[617675],,,,,,,, +GARD:17935,Active,Orphanet,ORPHA:502434,Disorder,[Malformation syndrome],STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).",[617635],,,,,,,, +GARD:17936,Active,Orphanet,ORPHA:502444,Disorder,[Disease],Alkaline ceramidase 3 deficiency,"[ACER3-related early childhood-onset progressive leukodystrophy, Leukodystrophy due to alkaline ceramidase 3 deficiency]","A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.",[617762],,,,,,,, +GARD:17937,Active,Orphanet,ORPHA:504476,Disorder,[Disease],Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,"[CABV syndrome, CANVAS, Cerebellar ataxia with bilateral vestibulopathy syndrome]","A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.",[614575],,,,,,,, +GARD:17938,Active,Orphanet,ORPHA:504523,Disorder,[Disease],Severe combined immunodeficiency due to LAT deficiency,[SCID due to LAT deficiency],"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.",[617514],,,,,,,, +GARD:17939,Active,Orphanet,ORPHA:504530,Disorder,[Disease],Combined immunodeficiency due to Moesin deficiency,"[CID due to Moesin deficiency, MSN-related combined immunodeficiency, X-linked Moesin-associated immunodeficiency]","A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.",[300988],,,,,,,, +GARD:17940,Active,Orphanet,ORPHA:505216,Disorder,[Disease],3-methylglutaconic aciduria type 9,"[3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, MGA9]","A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.",[617698],,,,,,,, +GARD:17941,Active,Orphanet,ORPHA:505227,Disorder,[Disease],Combined immunodeficiency due to GINS1 deficiency,"[CID due to GINS1 deficiency, Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia, Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia]","A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.",[617827],,,,,,,, +GARD:17942,Active,Orphanet,ORPHA:505237,Disorder,[Malformation syndrome],Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy.",[617452],,,,,,,, +GARD:17943,Active,Orphanet,ORPHA:505242,Disorder,[Disease],Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,"[Cerebrorenal syndrome, Perez type]","A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.",[617595],,,,,,,, +GARD:17944,Active,Orphanet,ORPHA:505248,Disorder,[Malformation syndrome],Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,[Mucopolysaccharidosis-like plus disease],"A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.",[617303],,,,,,,, +GARD:17945,Active,Orphanet,ORPHA:506307,Disorder,[Malformation syndrome],Stromme syndrome,"[Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, Jejunal atresia-microcephaly-ocular anomalies syndrome]","A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.",[243605],,,,,,,, +GARD:17946,Active,Orphanet,ORPHA:506353,Disorder,[Disease],Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,[Autosomal recessive complex SPG due to Kennedy pathway dysfunction],"A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.",[618768],,,,,,,, +GARD:17947,Active,Orphanet,ORPHA:506358,Disorder,[Malformation syndrome],Gabriele-de Vries syndrome,[YY1 haploinsufficiency syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).",[617557],,,,,,,, +GARD:17948,Active,Orphanet,ORPHA:508498,Disorder,[Malformation syndrome],Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.",[615583],,,,,,,, +GARD:17949,Active,Orphanet,ORPHA:508512,Disorder,[Disease],Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,,"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.",[618097],,,,,,,, +GARD:17950,Active,Orphanet,ORPHA:508523,Disorder,[Disease],Hyperphenylalaninemia due to DNAJC12 deficiency,[Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia],"A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.",[617384],,,,,,,, +GARD:17951,Active,Orphanet,ORPHA:508529,Disorder,[Disease],Intermediate epidermolysis bullosa simplex with cardiomyopathy,[Intermediate EBS with cardiomyopathy],"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.",[617294],,,,,,,, +GARD:17952,Active,Orphanet,ORPHA:513436,Disorder,[Disease],Autosomal recessive spastic paraplegia type 78,[SPG78],"A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.",[617225],,,,,,,, +GARD:17953,Active,Orphanet,ORPHA:513456,Disorder,[Disease],Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,[Skraban-Deardorff syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.",[617616],,,,,,,, +GARD:17954,Active,Orphanet,ORPHA:519388,Disorder,[Malformation syndrome],Autosomal recessive anterior segment dysgenesis,,"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.",[617319],,,,,,,, +GARD:17955,Active,Orphanet,ORPHA:521258,Disorder,[Malformation syndrome],Xq25 microduplication syndrome,"[Dup(X)(q25), Xq25 microtriplication]","A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.",[300979],,,,,,,, +GARD:17956,Active,Orphanet,ORPHA:521305,Disorder,[Disease],Proximal myopathy with focal depletion of mitochondria,,"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.",[600706],,,,,,,, +GARD:17957,Active,Orphanet,ORPHA:521390,Disorder,[Malformation syndrome],Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,[SINO syndrome],"A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.",[617296],,,,,,,, +GARD:17958,Active,Orphanet,ORPHA:521406,Disorder,[Disease],Dystonia-parkinsonism-hypermanganesemia syndrome,,"A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.",[617013],,,,,,,, +GARD:17959,Active,Orphanet,ORPHA:521414,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2DD,"[ATP1A1-related CMT2, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, CMT2DD]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.",[618036],,,,,,,, +GARD:17960,Active,Orphanet,ORPHA:521426,Disorder,[Malformation syndrome],PLAA-associated neurodevelopmental disorder,[PLAAND],"A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.",[617527],,,,,,,, +GARD:17961,Active,Orphanet,ORPHA:521438,Disorder,[Malformation syndrome],Congenital vertebral-cardiac-renal anomalies syndrome,[Congenital NAD deficiency disorder],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","[618845, 617660, 617661]",,,,,,,, +GARD:17962,Active,Orphanet,ORPHA:522077,Disorder,[Disease],Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,[SYT1-related neurodevelopmental disorder],"A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.",[618218],,,,,,,, +GARD:17963,Active,Orphanet,ORPHA:527450,Disorder,[Malformation syndrome],Severe myopia-generalized joint laxity-short stature syndrome,,"A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.",[617662],,,,,,,, +GARD:17964,Active,Orphanet,ORPHA:527497,Disorder,[Disease],NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,"[Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia, SPAX8]","A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.",[617560],,,,,,,, +GARD:17965,Active,Orphanet,ORPHA:528084,Disorder,[Disease],Non-specific syndromic intellectual disability,[Complex neurodevelopmental disorder],"A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.","[618569, 619099, 619072, 619000, 618971, 309590, 618659, 619320, 618914, 619264, 619243, 618430, 619091, 619244, 606053, 619092, 619005, 619056, 619268, 301029, 619239, 618906, 618470, 618653, 619314, 619306, 619031, 619125, 619083, 618922, 618342, 618292, 618974, 619076, 618009, 619157, 617755, 619149]",,,,,,,, +GARD:17966,Active,Orphanet,ORPHA:528091,Disorder,[Disease],Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,,"A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.",[617021],,,,,,,, +GARD:17967,Active,Orphanet,ORPHA:528105,Disorder,[Disease],Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,[HELIX syndrome],"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.",[617671],,,,,,,, +GARD:17968,Active,Orphanet,ORPHA:529574,Disorder,[Malformation syndrome],Duane retraction syndrome with congenital deafness,"[DRS with deafness, DRS with hearing loss, DURS with deafness, DURS with hearing loss, Duane retraction syndrome with congenital hearing loss]","A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.",[617041],,,,,,,, +GARD:17969,Active,Orphanet,ORPHA:529665,Disorder,[Malformation syndrome],Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,[GPAA1-related biosynthesis defect],"A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.",[617810],,,,,,,, +GARD:17970,Active,Orphanet,ORPHA:529965,Disorder,[Malformation syndrome],Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,[Pilarowski-Bjornsson syndrome],"A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.",[617682],,,,,,,, +GARD:17971,Active,Orphanet,ORPHA:529970,Subtype of disorder,[Clinical subtype],Male infertility due to acephalic spermatozoa,[Acephalic spermatozoa syndrome],,"[618112, 617187]",,,,,,,, +GARD:17972,Active,Orphanet,ORPHA:530995,Disorder,[Disease],Mixed phenotype acute leukemia,[MPAL],"A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.",[601626],,,,,,,, +GARD:17973,Active,Orphanet,ORPHA:535458,Subtype of disorder,[Etiological subtype],Familial GPIHBP1 deficiency,[Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency],,[615947],,,,,,,, +GARD:17974,Active,Orphanet,ORPHA:536467,Subtype of disorder,[Clinical subtype],B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,"[B3GALT6-related spEDS, B3GALT6-related spondylodysplastic EDS, Beta3GalT6-deficient EDS, Ehlers-Danlos syndrome progeroid type 2, spEDS-B3GALT6]","A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.",[615349],,,,,,,, +GARD:17975,Active,Orphanet,ORPHA:536532,Disorder,[Disease],Classical-like Ehlers-Danlos syndrome type 2,"[AEBP1-related EDS, AEBP1-related Ehlers-Danlos syndrome, Classical-like EDS type 2, clEDS type 2]","A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.",[618000],,,,,,,, +GARD:17976,Active,Orphanet,ORPHA:538096,Disorder,[Disease],Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,,"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.",[604431],,,,,,,, +GARD:17977,Active,Orphanet,ORPHA:538574,Disorder,[Disease],Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,[Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome],"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.",[148360],,,,,,,, +GARD:17978,Active,Orphanet,ORPHA:538958,Disorder,[Disease],Combined immunodeficiency due to CD70 deficiency,[CID due to CD70 deficiency],"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.",[618261],,,,,,,, +GARD:17979,Active,Orphanet,ORPHA:538963,Disorder,[Disease],Combined immunodeficiency due to ITK deficiency,"[Autosomal recessive lymphoproliferative disease due to ITK deficiency, ITK deficiency]","A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.",[613011],,,,,,,, +GARD:1798,Legacy,GARD,,,,,,,,,,,,Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:17980,Active,Orphanet,ORPHA:541423,Disorder,[Disease],Growth delay-intellectual disability-hepatopathy syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.",[617093],,,,,,,, +GARD:17981,Active,Orphanet,ORPHA:542301,Disorder,[Disease],Combined immunodeficiency due to CARMIL2 deficiency,[Combined immunodeficiency due to RLTPR deficiency],"A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.",[618131],,,,,,,, +GARD:17982,Active,Orphanet,ORPHA:542306,Disorder,[Disease],GNB5-related intellectual disability-cardiac arrhythmia syndrome,,"A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.",[617173],,,,,,,, +GARD:17983,Active,Orphanet,ORPHA:542585,Disorder,[Disease],Auditory neuropathy-optic atrophy syndrome,,"A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.",[617717],,,,,,,, +GARD:17984,Active,Orphanet,ORPHA:542657,Disorder,[Disease],Isolated hyperchlorhidrosis,[Carbonic anhydrase XII deficiency],"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.",[143860],,,,,,,, +GARD:17985,Active,Orphanet,ORPHA:544469,Disorder,[Malformation syndrome],PRUNE1-related neurological syndrome,,"A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.",[617481],,,,,,,, +GARD:17986,Active,Orphanet,ORPHA:544472,Subtype of disorder,[Etiological subtype],Atypical hemolytic uremic syndrome with complement gene abnormality,"[Atypical HUS with complement gene abnormality, aHUS with complement gene abnormality]",,"[235400, 615008, 612922, 612926, 612923, 612924, 609814, 612925]",,,,,,,, +GARD:17987,Active,Orphanet,ORPHA:544488,Disorder,[Disease],Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,"[Bachmann-Bupp syndrome, Ornithine decarboxylase deficiency]","A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.",[619075],,,,,,,, +GARD:17988,Active,Orphanet,ORPHA:544503,Disorder,[Disease],RNF13-related severe early-onset epileptic encephalopathy,[RNF13-related severe EOEE],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.",[618379],,,,,,,, +GARD:17989,Active,Orphanet,ORPHA:544602,Disorder,[Disease],Congenital myopathy with reduced type 2 muscle fibers,"[Congenital myopathy with fast-twitch fiber atrophy, Congenital myopathy with reduced type II muscle fibers, Congenital myopathy with type 2 muscle fiber atrophy, Congenital myopathy with type II fiber atrophy]","A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.",[618414],,,,,,,, +GARD:1799,Legacy,GARD,,,,,,,,,,,,Delta-sarcoglycanopathy,TRUE,FALSE,Active +GARD:17990,Active,Orphanet,ORPHA:555402,Disorder,[Disease],NAD(P)HX dehydratase deficiency,[CARKD deficiency],"A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.",[618321],,,,,,,, +GARD:17991,Active,Orphanet,ORPHA:555407,Disorder,[Disease],NAD(P)HX epimerase deficiency,[Apolipoprotein A-I binding protein deficiency],"A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.",[617186],,,,,,,, +GARD:17992,Active,Orphanet,ORPHA:556955,Disorder,[Disease],Pancreatic agenesis-holoprosencephaly syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.",[618500],,,,,,,, +GARD:17993,Active,Orphanet,ORPHA:557003,Disorder,[Disease],Oculocerebrodental syndrome,[Oculo-cerebro-dental syndrome],"A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.",[618440],,,,,,,, +GARD:17994,Active,Orphanet,ORPHA:557064,Disorder,[Disease],Neonatal epileptic encephalopathy due to glutaminase deficiency,,"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.",[618328],,,,,,,, +GARD:17995,Active,Orphanet,ORPHA:562509,Disorder,[Disease],Heme oxygenase-1 deficiency,[HO-1 deficiency],"A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.",[614034],,,,,,,, +GARD:17996,Active,Orphanet,ORPHA:562538,Disorder,[Disease],Autosomal recessive extra-oral halitosis,"[MTO-deficiency, Methanethiol oxidase deficiency]",,[618148],,,,,,,, +GARD:17997,Active,Orphanet,ORPHA:562559,Disorder,[Malformation syndrome],Anterior maxillary protrusion-strabismus-intellectual disability syndrome,[MRAMS syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.",[613671],,,,,,,, +GARD:17998,Active,Orphanet,ORPHA:562569,Disorder,[Malformation syndrome],TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.",[618316],,,,,,,, +GARD:17999,Active,Orphanet,ORPHA:565624,Disorder,[Disease],Combined oxidative phosphorylation defect type 39,"[COXPD39, GFM2-related combined oxidative phosphorylation defect]",,[618397],,,,,,,, +GARD:180,Active,Orphanet,ORPHA:182050,Disorder,[Disease],MYH9-related disease,"[MYH9-RD, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia]","MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.",[155100],,,,,MYH9 related thrombocytopenia,TRUE,FALSE,Active +GARD:18000,Active,Orphanet,ORPHA:565788,Disorder,[Disease],Infantile inflammatory bowel disease with neurological involvement,,"A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.",[618213],,,,,,,, +GARD:18001,Active,Orphanet,ORPHA:565858,Disorder,[Malformation syndrome],Craniosynostosis-microretrognathia-severe intellectual disability syndrome,,,[618265],,,,,,,, +GARD:18002,Active,Orphanet,ORPHA:566243,Disorder,[Disease],Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,"[RTHb, Resistance to thyroid hormone beta, Resistance to thyroid hormone due to a mutation in TRb]","A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.","[188570, 274300, 145650]",,,,,,,, +GARD:18003,Active,Orphanet,ORPHA:567548,Disorder,[Clinical syndrome],Idiopathic steroid-resistant nephrotic syndrome,[Idiopathic SRNS],"A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.",[619263],,,,,,,, +GARD:18004,Active,Orphanet,ORPHA:569290,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 6,[PMPCB deficiency],,[617954],,,,,,,, +GARD:18005,Active,Orphanet,ORPHA:570422,Disorder,[Disease],Galactose mutarotase deficiency,"[GALM deficiency, Galactosemia type 4]","A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.",[618881],,,,,,,, +GARD:18006,Active,Orphanet,ORPHA:570491,Disorder,[Disease],QRSL1-related combined oxidative phosphorylation defect,[QRSL1-related COXPD],"A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.",[618835],,,,,,,, +GARD:18007,Active,Orphanet,ORPHA:572013,Disorder,[Malformation syndrome],Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,,,[618325],,,,,,,, +GARD:18008,Active,Orphanet,ORPHA:572354,Subtype of disorder,[Clinical subtype],Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,"[BPES type 1, Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure]",,[110100],,,,,,,, +GARD:18009,Active,Orphanet,ORPHA:572385,Subtype of disorder,[Clinical subtype],Brachydactyly type B1,,"A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.",[113000],,,,,,,, +GARD:18010,Active,Orphanet,ORPHA:572543,Subtype of disorder,[Clinical subtype],RFVT2-related riboflavin transporter deficiency,"[RTD2, Riboflavin transporter deficiency 2]",,[211530],,,,,,,, +GARD:18011,Active,Orphanet,ORPHA:572768,Subtype of disorder,[Clinical subtype],Microcephaly-micromelia syndrome,[MIMIS],,[251230],,,,,,,, +GARD:18012,Active,Orphanet,ORPHA:572798,Disorder,[Disease],WARS2-related combined oxidative phosphorylation defect,[Mitochondrial tryptophanyl-tRNA synthetase deficiency],,[617710],,,,,,,, +GARD:18013,Active,Orphanet,ORPHA:576283,Subtype of disorder,[Etiological subtype],SATB2-associated syndrome due to a pathogenic variant,[SATB2-associated syndrome due to a point mutation],,[612313],,,,,,,, +GARD:18014,Active,Orphanet,ORPHA:576349,Disorder,[Disease],NLRC4-related familial cold autoinflammatory syndrome,"[FCAS4, Familial cold autoinflammatory syndrome 4, NLRC4-related familial cold urticaria]",,[616115],,,,,,,, +GARD:18015,Active,Orphanet,ORPHA:580940,Disorder,[Malformation syndrome],QRICH1-related intellectual disability-chondrodysplasia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.",[617982],,,,,,,, +GARD:18016,Active,Orphanet,ORPHA:589435,Disorder,[Malformation syndrome],Spondylometaphyseal dysplasia-corneal dystrophy syndrome,[SMD-corneal dystrophy syndrome],,[618961],,,,,,,, +GARD:18017,Active,Orphanet,ORPHA:597733,Disorder,[Disease],Oculocutaneous albinism type 8,[OCA8],,[619165],,,,,,,, +GARD:18018,Active,Orphanet,ORPHA:597874,Disorder,[Disease],MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,,,[618367],,,,,,,, +GARD:18019,Active,Orphanet,ORPHA:598603,Disorder,[Malformation syndrome],Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,[FHEIG syndrome],,[618381],,,,,,,, +GARD:1802,Active,Orphanet,ORPHA:283,Disorder,[Disease],Demodicidosis,[Demodicosis],"Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.",,,,,,Demodicidosis,TRUE,FALSE,Active +GARD:18020,Active,Orphanet,ORPHA:603448,Disorder,[Malformation syndrome],Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,[CIMDAG syndrome],,[619273],,,,,,,, +GARD:18021,Active,Orphanet,ORPHA:603494,Disorder,[Malformation syndrome],Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,[COMMAD syndrome],,[617306],,,,,,,, +GARD:18022,Active,Orphanet,ORPHA:610569,Disorder,[Disease],KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,[Alkuraya-Kucinskas syndrome],,[617822],,,,,,,, +GARD:18023,Active,Orphanet,ORPHA:610573,Disorder,[Disease],CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,,,[619173],,,,,,,, +GARD:18024,Active,Orphanet,ORPHA:611201,Disorder,[Malformation syndrome],Oculogastrointestinal-neurodevelopmental syndrome,[OGIN Syndrome],,[619318],,,,,,,, +GARD:18025,Active,Orphanet,ORPHA:611207,Disorder,[Clinical syndrome],Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome,[SHILCA syndrome],,[619260],,,,,,,, +GARD:18026,Active,Orphanet,ORPHA:611216,Disorder,[Disease],Aplastic anemia-intellectual disability-dwarfism syndrome,[AMeD syndrome],,[619151],,,,,,,, +GARD:18027,Active,Orphanet,ORPHA:611223,Disorder,[Malformation syndrome],EN1-related dorsoventral syndrome,"[ENDOVE syndrome, ENDOVES]",,"[619218, 619217]",,,,,,,, +GARD:18028,Active,Orphanet,ORPHA:611237,Disorder,[Disease],Parkinsonism with polyneuropathy,,,[619279],,,,,,,, +GARD:18029,Active,Orphanet,ORPHA:611247,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 11,"[PCH11, Pontocerebellar hypoplasia due to TBC1D23]",,[617695],,,,,,,, +GARD:18030,Active,Orphanet,ORPHA:611256,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 12,"[COASY-related pontocerebellar hypoplasia, PCH12]",,[618266],,,,,,,, +GARD:18031,Active,Orphanet,ORPHA:613267,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 13,[PCH13],,[618606],,,,,,,, +GARD:18032,Active,Orphanet,ORPHA:613274,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 14,[PCH14],,"[619302, 619301]",,,,,,,, +GARD:18033,Active,Orphanet,ORPHA:615938,Disorder,[Clinical syndrome],Spastic paraparesis-cataracts-speech delay syndrome,[Fatty acyl-CoA reductase 1 superactivity],,[619338],,,,,,,, +GARD:18034,Active,Orphanet,ORPHA:615954,Disorder,[Clinical syndrome],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,"[Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome, Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome]",,[618810],,,,,,,, +GARD:18035,Active,Orphanet,ORPHA:615964,Disorder,[Disease],Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,"[Acute reversible leukoencephalopathy due to SLC13A3 deficiency, Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency]",,[618384],,,,,,,, +GARD:18036,Active,Orphanet,ORPHA:615983,Subtype of disorder,[Etiological subtype],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,,,[618810],,,,,,,, +GARD:18037,Active,Orphanet,ORPHA:615986,Subtype of disorder,[Etiological subtype],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,[Lethal 1p36.33 deletion syndrome],,[618810],,,,,,,, +GARD:18038,Active,Orphanet+OMIM,OMIM:606721,Subtype of disorder,[Disease subtype],"Lipodystrophy, familial partial, type 7","[Partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome]","Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by {3:Garg et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see {151660}.",[606721],[528],[Congenital generalized lipodystrophy],[13388],,,,, +GARD:18039,Active,Orphanet+OMIM,OMIM:233300,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 1,"[gonadal dysgenesis, xx type, xx gonadal dysgenesis, ovarian failure, hypergonadotropic, Ovarian dysgenesis, hypergonadotropic, autosomal recessive, ovarian dysgenesis, hypergonadotropic, with normal karyotype]","Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({16:Timmreck and Reindollar, 2003}).\n\n<Subhead> Genetic Heterogeneity of Ovarian Dysgenesis\n\nEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 ({300510}), caused by mutation in the BMP15 gene ({300247}); ODG3 ({614324}), caused by mutation in the PSMC3IP gene ({608665}); ODG4 ({616185}), caused by mutation in the MCMDC1 gene ({610098}); ODG5 ({617690}), caused by mutation in the SOHLH1 gene ({610224}); ODG6 ({618078}), caused by mutation in the NUP107 gene ({607617}); ODG7 ({618117}), caused by mutation in the MRPS22 gene ({605810}); ODG8 ({618187}), caused by mutation in the ESR2 gene ({601663}); ODG9 ({619665}), caused by mutation in the SPIDR gene ({615384}); and ODG10 ({619834}), caused by mutation in the ZSWIM7 gene ({614535}).\n\nSee also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome ({233400}).",[233300],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:1804,Active,Orphanet,ORPHA:93622,Subtype of disorder,[Clinical subtype],Dent disease type 1,,"A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent.","[310468, 300009, 308990, 300554]",,,,,Dent disease 1,TRUE,FALSE,Retired +GARD:18040,Active,Orphanet+OMIM,OMIM:300510,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 2,"[Ovarian dysgenesis, hypergonadotropic, x-linked, ovarian failure, hypergonadotropic, due to ovarian dysgenesis]","Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({8:Timmreck and Reindollar, 2003}). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development ({9:Zinn et al., 1998}; {7:Simpson and Rajkovic, 1999}; {5:Marozzi et al., 2000}).",[300510],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18041,Active,Orphanet+OMIM,OMIM:614324,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 3,,,[614324],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18042,Active,Orphanet+OMIM,OMIM:618078,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 6,,"Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected ({1:Weinberg-Shukron et al., 2015}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300}).",[618078],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18043,Active,Orphanet+OMIM,OMIM:618117,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 7,,"Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles ({1:Chen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300}).",[618117],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18044,Active,Orphanet+OMIM,OMIM:618723,Subtype of disorder,[Malformation syndrome subtype],Premature ovarian failure 16,,"Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see {136530}) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle ({1:Zhang et al., 2018}).",[618723],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18045,Active,Orphanet+OMIM,OMIM:123100,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 1,"[craniostenosis, Crs]","Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {8:Fitzpatrick, 2013}). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis.\n\n<Subhead> Genetic Heterogeneity of Craniosynostosis\n\nCraniosynostosis-2 (CRS2; {604757}) is caused by mutation in the MSX2 gene ({123101}) on chromosome 5q35. Craniosynostosis-3 (CRS3; {615314}) is caused by mutation in the TCF12 gene ({600480}) on chromosome 15q21. Craniosynostosis-4 (CRS4; {600775}) is caused by mutation in the ERF gene ({611888}) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; {615529}) is conferred by variation in the ALX4 gene ({605420}) on chromosome 11p11. Craniosynostosis-6 (CRS6; {616602}) is caused by mutation in the ZIC1 gene ({600470}) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; {617439}) is conferred by variation in the SMAD6 gene ({602931}) on chromosome 15q22.",[123100],"[35093, 35099]","[Non-syndromic sagittal craniosynostosis, Non-syndromic bicoronal craniosynostosis]","[16633, 16634]",,,,, +GARD:18046,Active,Orphanet+OMIM,OMIM:615529,Subtype of disorder,[Morphological anomaly subtype],"Craniosynostosis 5, susceptibility to",,"Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by {2:Yagnik et al., 2012}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).",[615529],[35093],[Non-syndromic sagittal craniosynostosis],[16633],,,,, +GARD:18047,Active,Orphanet+OMIM,OMIM:615314,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 3,,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {2:Fitzpatrick, 2013}). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms ({4:Sharma et al., 2013}).\n\nFor discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).",[615314],[35099],[Non-syndromic bicoronal craniosynostosis],[16634],,,,, +GARD:18048,Active,Orphanet+OMIM,OMIM:616602,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 6,,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures ({2:Twigg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).\n\nStructural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS; {618736}) is an allelic disorder.",[616602],[35099],[Non-syndromic bicoronal craniosynostosis],[16634],,,,, +GARD:18049,Active,Orphanet+OMIM,OMIM:121400,Subtype of disorder,[Morphological anomaly subtype],"Cornea plana 1, autosomal dominant",,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by {5:Tahvanainen et al., 1996}).\n\n<Subhead> Genetic Heterogeneity of Cornea Plana\n\nAlso see CNA2 ({217300}), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations.",[121400],[53691],[Congenital cornea plana],[16657],,,,, +GARD:18050,Active,Orphanet+OMIM,OMIM:217300,Subtype of disorder,[Morphological anomaly subtype],"Cornea plana 2, autosomal recessive",,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by {11:Tahvanainen et al., 1996}).\n\nFor discussion of genetic heterogeneity of CNA, see CNA1 ({121400}).",[217300],[53691],[Congenital cornea plana],[16657],,,,, +GARD:18051,Active,Orphanet+OMIM,OMIM:168500,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 1,"[parietal foramina, symmetric, Pfm, cranium bifidum, hereditary, catlin marks, cranium bifidum occultum, foramina parietalia permagna]","Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by {12:Spruijt et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Parietal Foramina\n\nSee also PFM2 ({609597}) and the 11p11.2 deletion syndrome ({601224}), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene ({605420}) on chromosome 11p.\n\nA third locus for PFM (PFM3; {609566}) has been mapped to chromosome 4q21-q23.",[168500],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18052,Active,Orphanet+OMIM,OMIM:609566,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 3,,"Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone ({1:Chen et al., 2003}).\n\nFor a discussion of genetic heterogeneity of parietal foramina, see {168500}.",[609566],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18053,Active,Orphanet+OMIM,OMIM:609597,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 2,,"Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by {1:Altunoglu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 ({168500}).",[609597],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18054,Active,Orphanet+OMIM,OMIM:211400,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 1,[Cystic fibrosis-like syndrome],,[211400],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18055,Active,Orphanet+OMIM,OMIM:613021,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 2,[Cystic fibrosis-like syndrome],,[613021],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18056,Active,Orphanet+OMIM,OMIM:613071,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 3,[Cystic fibrosis-like syndrome],,[613071],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18057,Active,Orphanet+OMIM,OMIM:600131,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 1",,"Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; {600669}), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA ({3:Crunelli and Leresche, 2002}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy\n\nThe ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see {600669}), which also maps to 8q24.\n\nSusceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see {607681}), conferred by variation in the GABRG2 gene ({137164}) on chromosome 5q31.1; ECA4 ({611136}), conferred by variation in the GABRA1 gene ({137160}) on chromosome 5q34; ECA5 ({612269}), conferred by variation in the GABRB3 gene ({137192}) on chromosome 15q12; and ECA6 (see {611942}), conferred by variation in the CACNA1H gene ({607904}) on chromosome 16p13.\n\nSee EIG11 ({607628}) for discussion of a locus previously designated ECA3 on chromosome 3q26.",[600131],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18058,Active,Orphanet+OMIM,OMIM:607681,Subtype of disorder,[Disease subtype],"Febrile seizures, familial, 8",,"Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by {9:Singh et al., 1999} and {7:Marini et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see {600131}.",[607681],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18059,Active,Orphanet+OMIM,OMIM:611136,Subtype of disorder,[Disease subtype],"Epilepsy, idiopathic generalized, susceptibility to, 13",,"Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 ({600131}) and JME ({254770}), respectively.",[611136],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:1806,Active,Orphanet,ORPHA:99791,Subtype of disorder,[Clinical subtype],Dentin dysplasia type II,"[DD-II, DTDP2]","Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.",[125420],,,,,"Dentin dysplasia, coronal",TRUE,FALSE,Active +GARD:18060,Active,Orphanet+OMIM,OMIM:611942,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 6",,"Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 ({600131}) and ({600669}), respectively.",[611942],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18061,Active,Orphanet+OMIM,OMIM:612269,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 5",,,[612269],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18062,Active,Orphanet+OMIM,OMIM:602032,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 4, hair/nail type","[Ectodermal dysplasia, 'pure' hair/nail type]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[602032],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18063,Active,Orphanet+OMIM,OMIM:614927,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 5, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614927],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18064,Active,Orphanet+OMIM,OMIM:614928,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 6, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614928],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18065,Active,Orphanet+OMIM,OMIM:614929,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 7, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614929],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18066,Active,Orphanet+OMIM,OMIM:614931,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 9, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by {2:Lin et al., 2012}).",[614931],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18067,Active,Orphanet+OMIM,OMIM:618252,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 32",,,[618252],[70474],[Leigh syndrome with cardiomyopathy],[16685],,,,, +GARD:18068,Active,Orphanet+OMIM,OMIM:605432,Subtype of disorder,[Malformation syndrome subtype],Radioulnar synostosis with amegakaryocytic thrombocytopenia 1,"[thrombocytopenia, congenital, with radioulnar synostosis, Rusat]","Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia\n\nRadioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; {616738}) is caused by heterozygous mutation in the MECOM gene ({165215}) on chromosome 3q26.",[605432],[71289],[Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome],[16687],,,,, +GARD:18069,Active,Orphanet+OMIM,OMIM:616738,Subtype of disorder,[Malformation syndrome subtype],Radioulnar synostosis with amegakaryocytic thrombocytopenia 2,,"Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\nFor a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 ({605432}).",[616738],[71289],[Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome],[16687],,,,, +GARD:1807,Active,Orphanet,ORPHA:99789,Subtype of disorder,[Clinical subtype],Dentin dysplasia type I,"[DD-I, DTDP1, Radicular dentin dysplasia]","Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.",,,,,,"Dentin dysplasia, type 1",TRUE,FALSE,Active +GARD:18070,Active,Orphanet+OMIM,OMIM:115210,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 1",[Rcm],"Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation ({9:Mogensen et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Familial Restrictive Cardiomyopathy\n\nOther forms of familial restrictive cardiomyopathy include RCM2 ({609578}), mapped to chromosome 10q23; RCM3 ({612422}), caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32; RCM4 (see {615248}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21; RCM5 (see {617047}), caused by mutation in the FLNC gene ({102565}) on chromosome 7q32; and RCM6 ({619433}), caused by mutation in the KIF20A gene ({605664}) on chromosome 5q31.",[115210],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18071,Active,Orphanet+OMIM,OMIM:609578,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see {115210}.",[609578],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18072,Active,Orphanet+OMIM,OMIM:612422,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 3",,,[612422],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18073,Active,Orphanet+OMIM,OMIM:145250,Subtype of disorder,[Disease subtype],"Hyperpigmentation with or without hypopigmentation, familial progressive","[hyperpigmentation, familial progressive, 2, formerly, Melanosis universalis hereditaria]","Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by {11:Wang et al., 2009} and {1:Amyere et al., 2011}).\n\nAlso see familial progressive hyperpigmentation (FPH1; {614233}).",[145250],[79146],[Familial progressive hyperpigmentation],[16706],,,,, +GARD:18074,Active,Orphanet+OMIM,OMIM:614233,Subtype of disorder,[Disease subtype],"Hyperpigmentation, familial progressive, 1",,"Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by {1:Zhang et al., 2006}).\n\nAlso see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; {145250}).",[614233],[79146],[Familial progressive hyperpigmentation],[16706],,,,, +GARD:18075,Active,Orphanet+OMIM,OMIM:143470,Subtype of disorder,[Disease subtype],Hyperalphalipoproteinemia 1,"[Cholesterol ester transfer protein deficiency, cetp deficiency]",,[143470],[79506],[Cholesterol-ester transfer protein deficiency],[16724],,,,, +GARD:18076,Active,Orphanet+OMIM,OMIM:614028,Subtype of disorder,[Disease subtype],Apolipoprotein c-iii deficiency,[Hyperalphalipoproteinemia 2],,[614028],[79506],[Cholesterol-ester transfer protein deficiency],[16724],,,,, +GARD:18077,Active,Orphanet+OMIM,OMIM:603387,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,"[meg-pmg-megacc syndrome, Megalencephaly, polymicrogyria, mega corpus callosum syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development]","This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {3:Gripp et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome\n\nSee also MPPH2 ({615937}), caused by mutation in the AKT3 gene ({611223}) on chromosome 1q43-q44; and MPPH3 ({615938}), caused by mutation in the CCND2 gene ({123833}) on chromosome 12p13.",[603387],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:18078,Active,Orphanet+OMIM,OMIM:615937,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2,,"MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {1:Gripp et al., 2009}).\n\nFor a discussion of genetic heterogeneity of MPPH, see {603387}.",[615937],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:18079,Active,Orphanet+OMIM,OMIM:615938,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3,,"This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by {2:Mirzaa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of MPPH, see MPPH1 ({603387}).",[615938],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:1808,Active,Orphanet,ORPHA:99792,Disorder,[Disease],Dentin dysplasia-sclerotic bones syndrome,,"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.",[125440],,,,,Dentin dysplasia sclerotic bones,TRUE,FALSE,Active +GARD:18080,Active,Orphanet+OMIM,OMIM:613550,Subtype of disorder,[Disease subtype],Nephronophthisis 11,,,[613550],[84081],[Senior-Boichis syndrome],[16730],,,,, +GARD:18081,Active,Orphanet+OMIM,OMIM:616217,Subtype of disorder,[Disease subtype],Nephronophthisis 19,,,[616217],[84081],[Senior-Boichis syndrome],[16730],,,,, +GARD:18082,Active,Orphanet+OMIM,OMIM:601068,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 1","[Benign adult familial myoclonic epilepsy 1, cortical myoclonic tremor with epilepsy, familial, 1]","Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by {3:Depienne et al., 2010}). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by {2:Cen et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy\n\nSee also FAME2 ({607876}), caused by mutation in the STARD7 gene ({616712}) on chromosome 2q11; FAME3 ({613608}), caused by mutation in the MARCHF6 gene ({613297}) on chromosome 5p15; FAME4 ({615127}), which maps to chromosome 3q26.32-q28; FAME5 ({615400}), caused by mutation in the CNTN2 gene ({190197}) on chromosome 1q32; FAME6 ({618074}), caused by mutation in the TNRC6A gene ({610739}) on chromosome 16p12; and FAME7 ({618075}), caused by mutation in the RAPGEF2 gene ({609530}) on chromosome 4.\n\nProgressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, {254800}).",[601068],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18083,Active,Orphanet+OMIM,OMIM:607876,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 2","[cortical myoclonus and epilepsy, autosomal dominant, Benign adult familial myoclonic epilepsy 2, cortical myoclonic tremor with epilepsy, familial, 2]","Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by {4:De Fusco et al., 2014}; {2:Crompton et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068}).",[607876],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18084,Active,Orphanet+OMIM,OMIM:613608,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 3","[Cortical myoclonic tremor with epilepsy, familial, 3]","Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by {2:Florian et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068}).",[613608],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18085,Active,Orphanet+OMIM,OMIM:615127,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 4","[Cortical myoclonic tremor with epilepsy, familial, 4]",,[615127],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18086,Active,Orphanet+OMIM,OMIM:615400,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 5","[Cortical myoclonic tremor with epilepsy, familial, 5]","Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by {1:Stogmann et al., 2013}).",[615400],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18087,Active,Orphanet+OMIM,OMIM:607694,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","[Leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition, ataxia, delayed dentition, and hypomyelination, 4h leukodystrophy 1, leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism, 4h syndrome]","Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by {2:Bernard et al., 2011}).\n\nSee also HLD8 ({614381}), which has similar features and is caused by mutation in the POLR3B gene ({614366}) on chromosome 12q23. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[607694],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18088,Active,Orphanet+OMIM,OMIM:616494,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 11",[4h leukodystrophy 3],"Hypomyelinating leukodystrophy-11 (HLD11) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by {2:Thiffault et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.",[616494],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18089,Active,Orphanet+OMIM,OMIM:618660,Subtype of disorder,[Disease subtype],Hemolytic anemia due to glutathione reductase deficiency,,,[618660],[90030],[Hemolytic anemia due to glutathione reductase deficiency],[16784],,,,, +GARD:18090,Active,Orphanet+OMIM,OMIM:618667,Subtype of disorder,[Disease subtype],"Hydrocephalus, congenital communicating, 1",,,[618667],[90030],[Hemolytic anemia due to glutathione reductase deficiency],[16784],,,,, +GARD:18091,Active,Orphanet+OMIM,OMIM:601152,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor and sensory, type via, with optic atrophy","[neuropathy, hereditary motor and sensory, type vi, charcot-marie-tooth disease, type 6a, charcot-marie-tooth disease, type 6, Hmsn via, peripheral neuropathy and optic atrophy]","Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by {12:Voo et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI\n\nSee also HMSN6B ({616505}), caused by mutation in the SLC25A46 gene ({610826}) on chromosome 5q22, and HMSN6C ({618511}), caused by mutation in the PDXK gene ({179020}) on chromosome 21q22.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B ({118200}).",[601152],[90120],[Hereditary motor and sensory neuropathy type 6],[16787],,,,, +GARD:18092,Active,Orphanet+OMIM,OMIM:616505,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor and sensory, type vib, with optic atrophy","[charcot-marie-tooth disease, type 6b, Hmsn vib]","Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by {1:Abrams et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A ({601152}).",[616505],[90120],[Hereditary motor and sensory neuropathy type 6],[16787],,,,, +GARD:18093,Active,Orphanet+OMIM,OMIM:146520,Subtype of disorder,[Disease subtype],Hypotrichosis 2,"[hypotrichosis, spanish type, Hypotrichosis simplex of the scalp 1, htss]","Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[146520],[90368],[Hypotrichosis simplex of the scalp],[16789],,,,, +GARD:18094,Active,Orphanet+OMIM,OMIM:613981,Subtype of disorder,[Disease subtype],Hypotrichosis 3,[Hypotrichosis simplex of the scalp 2],"Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).",[613981],[90368],[Hypotrichosis simplex of the scalp],[16789],,,,, +GARD:18095,Active,Orphanet+OMIM,OMIM:300030,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 3",,,[300030],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18096,Active,Orphanet+OMIM,OMIM:300066,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 4","[Deafness, x-linked 6, progressive, deafness, nonsyndromic sensorineural progressive 6]","X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by {2:del Castillo et al., 1996}).",[300066],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18097,Active,Orphanet+OMIM,OMIM:300914,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 6",,,[300914],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18098,Active,Orphanet+OMIM,OMIM:304500,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 1","[Deafness, x-linked 2, sensorineural congenital]",,[304500],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18099,Active,Orphanet+OMIM,OMIM:600101,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 2a",,,[600101],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:181,Active,Orphanet,ORPHA:827,Disorder,[Disease],Stargardt disease,"[Fundus flavimaculatus, Stargardt 1]","A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.","[603786, 600110, 248200]",,,,,Stargardt disease,TRUE,FALSE,Active +GARD:1810,Active,Orphanet,ORPHA:3270,Disorder,[Malformation syndrome],Radioulnar synostosis-developmental delay-hypotonia syndrome,[Der Kaloustian-McIntosh-Silver syndrome],"Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).",[266255],,,,,Radioulnar synostosis-developmental delay-hypotonia syndrome,TRUE,FALSE,Active +GARD:18100,Active,Orphanet+OMIM,OMIM:600652,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 4a","[Deafness, autosomal dominant 4]",,[600652],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18101,Active,Orphanet+OMIM,OMIM:600965,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 6","[Deafness, autosomal dominant 14, deafness, autosomal dominant 38]","Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 ({124900}), caused by mutations in the DIAPH1 gene ({602121}), is associated with progression to profound deafness by the fourth decade of life (summary by {1:Bespalova et al., 2001}).",[600965],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18102,Active,Orphanet+OMIM,OMIM:600994,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 5",,,[600994],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18103,Active,Orphanet+OMIM,OMIM:601316,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 10",,,[601316],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18104,Active,Orphanet+OMIM,OMIM:601317,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 11",,"Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by {3:Sun et al., 2011}).",[601317],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18105,Active,Orphanet+OMIM,OMIM:601369,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 9",,"DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by {9:Robertson et al., 2006}).",[601369],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18106,Active,Orphanet+OMIM,OMIM:601412,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 7",,"Autosomal dominant deafness-7 (DFNA7) is a form of progressive sensorineural hearing loss with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. Some patients may have associated vertigo (summary by {5:Wesdorp et al., 2018}).",[601412],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18107,Active,Orphanet+OMIM,OMIM:601543,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 12","[Deafness, autosomal dominant 8]",,[601543],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18108,Active,Orphanet+OMIM,OMIM:601868,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 13",,,[601868],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18109,Active,Orphanet+OMIM,OMIM:602459,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 15",,"Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by {3:Kim et al., 2013}).",[602459],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18110,Active,Orphanet+OMIM,OMIM:603964,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 16",,,[603964],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18111,Active,Orphanet+OMIM,OMIM:604717,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 20",[Dfna26],,[604717],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18112,Active,Orphanet+OMIM,OMIM:605583,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 25",,,[605583],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18113,Active,Orphanet+OMIM,OMIM:606012,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 18",,,[606012],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18114,Active,Orphanet+OMIM,OMIM:606451,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 30",,,[606451],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18115,Active,Orphanet+OMIM,OMIM:606705,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 36",,,[606705],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18116,Active,Orphanet+OMIM,OMIM:607017,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 21",,"Autosomal dominant deafness-21 (DFNA21) is characterized by nonsyndromic progressive sensorineural hearing loss. The mean age at onset is 30.6 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness in the Dutch population (summary by {3:de Bruijn et al., 2021}).",[607017],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18117,Active,Orphanet+OMIM,OMIM:607197,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive",,"{2:Liu et al. (2001)} screened 26 African American probands with congenital deafness (21 from simplex and 5 from multiplex families) for mutations in connexins 26, 30, and 31 and found no mutations. The affected individuals exhibited profound bilateral congenital deafness. Individuals demonstrated audiograms consistent with sensorineural deafness, the most common pattern in nonsyndromic recessive deafness ({1:Liu and Xu, 1994}), and did not exhibit any craniofacial abnormalities or history of vestibular dysfunction. Although {2:Liu et al. (2001)} reported that they had identified 2 homozygous mutations (leu11 to phe and val24 to ala) in the connexin-43 gene (GJA1; {121014}) in 4 of the 26 African American probands, {3:Paznekas et al. (2003)} cited a personal communication from the senior author of the report by {2:Liu et al. (2001)} stating that the 2 mutations had been found to involve the pseudogene of connexin-43 located on chromosome 5.",[607197],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18118,Active,Orphanet+OMIM,OMIM:607453,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 44",,,[607453],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18119,Active,Orphanet+OMIM,OMIM:607683,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 52",,,[607683],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1812,Legacy,GARD,,,,,,,,,,,,Dermatocardioskeletal syndrome Boronne type,TRUE,FALSE,Active +GARD:18120,Active,Orphanet+OMIM,OMIM:607841,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 48",,,[607841],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18121,Active,Orphanet+OMIM,OMIM:608224,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 41",,"Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by {4:Yan et al., 2013}).",[608224],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18122,Active,Orphanet+OMIM,OMIM:608372,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 49",,,[608372],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18123,Active,Orphanet+OMIM,OMIM:608394,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 43",,,[608394],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18124,Active,Orphanet+OMIM,OMIM:608641,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 28",,,[608641],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18125,Active,Orphanet+OMIM,OMIM:608645,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 31",,,[608645],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18126,Active,Orphanet+OMIM,OMIM:608652,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 47",,,[608652],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18127,Active,Orphanet+OMIM,OMIM:609129,Subtype of disorder,[Etiological subtype],"Auditory neuropathy, autosomal dominant 1","[Auditory neuropathy, nonsyndromic dominant]","Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease ({4:Satya-Murti et al., 1979}) and has been observed in Friedreich ataxia ({3:Satya-Murti et al., 1980}). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy\n\nSee also AUNA3 ({619832}), caused by mutation in the TMEM43 gene ({612048}) on chromosome 3p25.",[609129],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18128,Active,Orphanet+OMIM,OMIM:612431,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 27",,"DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss ({3:Peters et al., 2008}).",[612431],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18129,Active,Orphanet+OMIM,OMIM:612642,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 59",,,[612642],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1813,Active,Orphanet,ORPHA:1659,Disorder,[Disease],Dermatoleukodystrophy,[Cutis laxa-leukodystrophy],"A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.",[221790],,,,,Dermatoleukodystrophy,TRUE,FALSE,Active +GARD:18130,Active,Orphanet+OMIM,OMIM:612643,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 3b",,,[612643],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18131,Active,Orphanet+OMIM,OMIM:612644,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 2b",,,[612644],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18132,Active,Orphanet+OMIM,OMIM:613074,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 50",,"Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Mencia et al., 2009}).",[613074],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18133,Active,Orphanet+OMIM,OMIM:613558,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 51",,,[613558],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18134,Active,Orphanet+OMIM,OMIM:614152,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 64",,,[614152],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18135,Active,Orphanet+OMIM,OMIM:614211,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 33",,,[614211],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18136,Active,Orphanet+OMIM,OMIM:614614,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 4b",,"Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by {2:Wang et al., 2015})",[614614],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18137,Active,Orphanet+OMIM,OMIM:615629,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 56",,"Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Zhao et al., 2013}).",[615629],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18138,Active,Orphanet+OMIM,OMIM:615649,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 54",,,[615649],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18139,Active,Orphanet+OMIM,OMIM:615654,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 58",,,[615654],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1814,Active,Orphanet,ORPHA:1657,Disorder,[Malformation syndrome],"Dermatoosteolysis, Kirghizian type",,"A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.",[221810],,,,,Dermatoosteolysis Kirghizian type,TRUE,FALSE,Active +GARD:18140,Active,Orphanet+OMIM,OMIM:616044,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 65",,"Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal ({2:Zhang et al., 2014}).",[616044],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18141,Active,Orphanet+OMIM,OMIM:616340,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 67",,"DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms ({2:Xing et al., 2015}; {1:Thoenes et al., 2015}).",[616340],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18142,Active,Orphanet+OMIM,OMIM:616357,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 40",,,[616357],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18143,Active,Orphanet+OMIM,OMIM:616697,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 69","[Deafness, congenital, unilateral or asymmetric]",,[616697],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18144,Active,Orphanet+OMIM,OMIM:616707,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 68",,,[616707],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18145,Active,Orphanet+OMIM,OMIM:616968,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 70",,"Autosomal dominant deafness-70 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive ({1:Gao et al., 2015}).",[616968],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18146,Active,Orphanet+OMIM,OMIM:616969,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 66",,"Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset ({1:Nyegaard et al., 2015}).",[616969],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18147,Active,Orphanet+OMIM,OMIM:617605,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 71",,,[617605],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18148,Active,Orphanet+OMIM,OMIM:617606,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 72",,,[617606],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18149,Active,Orphanet+OMIM,OMIM:617663,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 73",,,[617663],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1815,Active,Orphanet,ORPHA:79149,Disorder,[Disease],Dermochondrocorneal dystrophy,[François syndrome],"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.",[221800],,,,,Dermochondrocorneal dystrophy of François,TRUE,FALSE,Active +GARD:18150,Active,Orphanet+OMIM,OMIM:618094,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 110",,,[618094],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18151,Active,Orphanet+OMIM,OMIM:618140,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 74",,"Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals ({1:Wang et al., 2018}).",[618140],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18152,Active,Orphanet+OMIM,OMIM:618410,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 113",,"DFNB113 is characterized by postlingual progressive hearing impairment ({1:Booth et al., 2018}).",[618410],"[90635, 90636]","[Autosomal dominant non-syndromic sensorineural deafness type DFNA, Autosomal recessive non-syndromic sensorineural deafness type DFNB]","[18644, 16791]",,,,, +GARD:18153,Active,Orphanet+OMIM,OMIM:618778,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 75",,"DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies ({2:Xia et al., 2019}).",[618778],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18154,Active,Orphanet+OMIM,OMIM:618787,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 76",,"Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients ({3:Schrauwen et al., 2019}; {2:Morgan et al., 2019}; {1:Diaz-Horta et al., 2019}).",[618787],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18155,Active,Orphanet+OMIM,OMIM:618915,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 77",,"Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades ({1:Li et al., 2019}).",[618915],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18156,Active,Orphanet+OMIM,OMIM:619081,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 78",,"Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by {3:Mutai et al., 2020}).",[619081],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18157,Active,Orphanet+OMIM,OMIM:619086,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 79",,"Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males ({1:Lu et al., 2020}).",[619086],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18158,Active,Orphanet+OMIM,OMIM:619274,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 80",,"DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves ({1:Schrauwen et al., 2018}; {2:Schrauwen et al., 2020}).",[619274],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18159,Active,Orphanet+OMIM,OMIM:221745,Subtype of disorder,[Etiological subtype],"Deafness, sensorineural, autosomal-mitochondrial type",,,[221745],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:1816,Active,Orphanet,ORPHA:1660,Disorder,[Malformation syndrome],Dermoodontodysplasia,,"A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.",[125640],,,,,Dermoodontodysplasia,TRUE,FALSE,Active +GARD:18160,Active,Orphanet+OMIM,OMIM:500008,Subtype of disorder,[Etiological subtype],"Deafness, nonsyndromic sensorineural, mitochondrial",,"Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by {10:Tang et al., 2007}).",[500008],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:18161,Active,Orphanet+OMIM,OMIM:580000,Subtype of disorder,[Etiological subtype],"Deafness, aminoglycoside-induced","[streptomycin ototoxicity, Deafness, streptomycin-induced]","The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea ({1:Akiyoshoi et al., 1976}). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.",[580000],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:18162,Active,Orphanet+OMIM,OMIM:178300,Subtype of disorder,[Disease subtype],"Ptosis, hereditary congenital 1",,Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.\n\nSee PTOS2 ({300245}) for description of an X-linked form of congenital bilateral isolated ptosis.,[178300],[91411],[Congenital ptosis],[16798],,,,, +GARD:18163,Active,Orphanet+OMIM,OMIM:300245,Subtype of disorder,[Disease subtype],"Ptosis, hereditary congenital 2",,See PTOS1 ({178300}) for a form of ptosis that has been linked to chromosome 1p.,[300245],[91411],[Congenital ptosis],[16798],,,,, +GARD:18164,Active,Orphanet+OMIM,OMIM:616219,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 5",,,[616219],[91411],[Congenital ptosis],[16798],,,,, +GARD:18165,Active,Orphanet+OMIM,OMIM:103420,Subtype of disorder,[Disease subtype],"Alacrima, congenital, autosomal dominant","[Alacrimia congenita, autosomal dominant]",,[103420],[91416],[Isolated congenital alacrima],[16799],,,,, +GARD:18166,Active,Orphanet+OMIM,OMIM:601549,Subtype of disorder,[Disease subtype],"Alacrima, congenital, autosomal recessive",,,[601549],[91416],[Isolated congenital alacrima],[16799],,,,, +GARD:18167,Active,Orphanet+OMIM,OMIM:221900,Subtype of disorder,[Disease subtype],"Persistent hyperplastic primary vitreous, autosomal recessive","[Retinal nonattachment, nonsyndromic congenital, retinal nonattachment and falciform detachment, persistent fetal vasculature]","Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see {5:Haddad et al., 1978}; {7:Khaliq et al., 2001}; {15:Prasov et al., 2012}).\n\nPHPV shares phenotypic overlap with Norrie disease ({310600}).\n\n<Subhead> Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous\n\nA dominant form of PHPV has been described (PHPVAD; {611308}).",[221900],[91495],[Persistent hyperplastic primary vitreous],[16803],,,,, +GARD:18168,Active,Orphanet+OMIM,OMIM:611308,Subtype of disorder,[Disease subtype],"Persistent hyperplastic primary vitreous, autosomal dominant",,"Persistent hyperplastic primary vitreous (PHPV) is a developmental malformation of the eye due to the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmos, cataract, and glaucoma ({2:Haddad et al., 1978}).\n\nFor a discussion of genetic heterogeneity of PHPV, see {221900}.",[611308],[91495],[Persistent hyperplastic primary vitreous],[16803],,,,, +GARD:18169,Active,Orphanet+OMIM,OMIM:277440,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 2a","[Vitamin d-dependent rickets, type 2a, with or without alopecia, rickets-alopecia syndrome, pddr iia, generalized resistance to 1,25-dihydroxyvitamin d, pseudovitamin d-deficiency, type iia, hypocalcemic vitamin d-resistant rickets, vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol, rickets, hereditary vitamin d-resistant]","Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.\n\nVDDR2B ({600785}) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).",[277440],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18170,Active,Orphanet+OMIM,OMIM:600785,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor",,"Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.\n\nVitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; {601769}), and most patients have alopecia in addition to rickets.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).",[600785],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18171,Active,Orphanet+OMIM,OMIM:619073,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 3",,"Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D ({1:Roizen et al., 2018}).\n\nFor discussion of genetic heterogeneity of vitamin D-dependent rickets, see {264700}.",[619073],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18172,Active,Orphanet+OMIM,OMIM:263450,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a5",,"For a general phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly (PAP), see PAPA1 ({174200}).",[263450],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18173,Active,Orphanet+OMIM,OMIM:602085,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a2",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[602085],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18174,Active,Orphanet+OMIM,OMIM:607324,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a3",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[607324],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18175,Active,Orphanet+OMIM,OMIM:608562,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a4",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.\n\n{1:Galjaard et al. (2003)} described an autosomal dominant postaxial polydactyly and partial cutaneous syndactyly syndrome in a 31-member, 6-generation Dutch kindred with 11 affected individuals. Although the PAPA phenotype predominated, the expression of the polydactyly and syndactyly phenotypes was variable with respect to involvement of upper/lower limbs, right/left sides, PAPA and/or PAPB phenotype expression, interdigital space (IDS), and extent of syndactyly, especially in 2 branches of the family. No other associated anomalies were observed. {1:Galjaard et al. (2003)} performed a whole-genome screen in this family and detected positive lod scores for markers on chromosome 7q, with a maximum 2-point lod score of 3.18 at theta = 0 with D7S1799. Individuals with PAPA/B and one with partial cutaneous syndactyly of IDS2 shared a common haplotype between markers D7S1799 and D7S495 (50 cM). They also shared a haplotype between GATA63F08 and D7S2513 (3.7 cM) with 2 clinically normal individuals and a patient with only syndactyly. {1:Galjaard et al. (2003)} concluded that PAP and syndactyly in this family are genetically heterogeneous with high penetrance, the only nonpenetrant individual being the patient with the PAPB-only phenotype.",[608562],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18176,Active,Orphanet+OMIM,OMIM:615226,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a6",,,[615226],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18177,Active,Orphanet+OMIM,OMIM:618219,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a9",,"Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability ({1:Schrauwen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618219],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18178,Active,Orphanet+OMIM,OMIM:618498,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a10",,"Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed ({1:Ullah et al., 2019}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618498],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18179,Active,Orphanet+OMIM,OMIM:604387,Subtype of disorder,[Clinical subtype],Nephronophthisis 3,[Nph3],,[604387],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:1818,Active,Orphanet,ORPHA:1425,Disorder,[Malformation syndrome],Desbuquois syndrome,"[DBQD, Desbuquois dysplasia]","Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.","[615777, 251450]",,,,,Desbuquois syndrome,TRUE,FALSE,Active +GARD:18180,Active,Orphanet+OMIM,OMIM:613159,Subtype of disorder,[Clinical subtype],Nephronophthisis-like nephropathy 1,,"Nephronophthisis-like nephropathy-1 (NPHPL1) is an autosomal recessive cystic kidney disease characterized by the onset of progressive renal insufficiency in childhood. End-stage renal disease occurs in the first 3 decades of life. The disorder may be associated with extrarenal manifestations, including hepatic and central nervous system involvement (summary by {2:O'Toole et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100}).",[613159],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:18181,Active,Orphanet+OMIM,OMIM:617271,Subtype of disorder,[Clinical subtype],Nephronophthisis 20,,"Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by {1:Macia et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100}).",[617271],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:18182,Active,Orphanet+OMIM,OMIM:602088,Subtype of disorder,[Clinical subtype],Nephronophthisis 2,[Nph2],,[602088],[93591],[Infantile nephronophthisis],[16825],,,,, +GARD:18183,Active,Orphanet+OMIM,OMIM:615382,Subtype of disorder,[Clinical subtype],Nephronophthisis 16,,,[615382],"[93591, 93592]","[Infantile nephronophthisis, Juvenile nephronophthisis]","[16825, 18645]",,,,, +GARD:18184,Active,Orphanet+OMIM,OMIM:146450,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 3, autosomal",,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see {300633}.",[146450],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18185,Active,Orphanet+OMIM,OMIM:300633,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 1, x-linked",,"Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by {8:van der Zanden et al., 2011}). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome ({300068}) and Opitz syndrome ({300000}).\n\n<Subhead> Genetic Heterogeneity of Hypospadias\n\nSee also HYSP2 ({300758}), caused by mutation in the MAMLD1 gene ({300120}) on chromosome Xq28; HYSP3 ({146450}), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 ({300856}), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene ({300837}).",[300633],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18186,Active,Orphanet+OMIM,OMIM:300758,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 2, x-linked",,,[300758],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18187,Active,Orphanet+OMIM,OMIM:300856,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 4, x-linked, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see HYSP1 ({300633}).",[300856],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18188,Active,Orphanet+OMIM,OMIM:274400,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 1,"[hypothyroidism, congenital, due to dyshormonogenesis, 1, iodine accumulation, transport, or trapping defect, Thyroid hormonogenesis, genetic defect in, 1]","Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({11:Vono-Toniolo et al., 2005}). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see {188540}) stimulation.\n\n{7:Park and Chatterjee (2005)} reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.\n\n<Subhead> Genetic Heterogeneity of Thyroid Dyshormonogenesis\n\nOther forms of thyroid hormone dysgenesis include TDH2A ({274500}), caused by mutation in the thyroid peroxidase gene (TPO; {606765}) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B; {274600}) and caused by mutation in the SLC26A4 gene ({605646}) on 7q31; TDH3 ({274700}), caused by mutation in the thyroglobulin gene (TG; {188450}) on 8q24; TDH4 ({274800}), caused by mutation in the iodotyrosine deiodinase gene (IYD; {612025}) on 6q25; TDH5 ({274900}), caused by mutation in the DUOXA2 gene ({612772}) on 15q21; and TDH6 ({607200}), caused by mutation in the DUOX2 gene ({606759}) on 15q21.",[274400],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18189,Active,Orphanet+OMIM,OMIM:274500,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 2a,"[Thyroid hormonogenesis, genetic defect in, 2a, hypothyroidism, congenital, due to dyshormonogenesis, 2a, iodide peroxidase deficiency, thyroid peroxidase deficiency]","Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({29:Vono-Toniolo et al., 2005}). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency ({22:Park and Chatterjee, 2005}). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration ({4:Bakker et al., 2000}). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; {188450}) to form iodotyrosine.",[274500],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18190,Active,Orphanet+OMIM,OMIM:274700,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 3,"[hypothyroidism, congenital, due to dyshormonogenesis, 3, Thyroid hormonogenesis, genetic defect in, 3]","{10:Kanou et al. (2007)} reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.",[274700],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18191,Active,Orphanet+OMIM,OMIM:274800,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 4,"[iodotyrosine dehalogenase deficiency, deiodinase deficiency, Thyroid hormonogenesis, genetic defect in, 4, hypothyroidism, congenital, due to dyshormonogenesis, 4]",,[274800],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18192,Active,Orphanet+OMIM,OMIM:274900,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 5,"[Thyroid hormonogenesis, genetic defect in, 5, hypothyroidism, congenital, due to dyshormonogenesis, 5]",,[274900],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18193,Active,Orphanet+OMIM,OMIM:607200,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 6,"[Thyroid hormonogenesis, genetic defect in, 6, hypothyroidism, congenital, due to dyshormonogenesis, 6]",,[607200],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18194,Active,Orphanet+OMIM,OMIM:619126,Disorder,[Disease],Immunodeficiency 75,,"Immunodeficiency-75 (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS ({601859}), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by {2:Stremenova Spegarova et al., 2020}).",[619126],[98291],[Lymphoproliferative disease associated with primary immune disease],[16855],,,,, +GARD:18195,Active,Orphanet+OMIM,OMIM:277450,Subtype of disorder,[Disease subtype],"Vitamin k-dependent clotting factors, combined deficiency of, 1","[multiple coagulation factor deficiency iii, fmfd iii, factors ii, vii, ix, and x, combined deficiency of, familial multiple coagulation factor deficiency iii, glutamic acid, deficient gamma-carboxylation of, Vkcfd, vitamin k-dependent coagulation defect]","Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C ({612283}) and protein S ({176880}). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX.\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors\n\nCombined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; {607473}) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; {608547}) on chromosome 16p11.",[277450],[98434],[Hereditary combined deficiency of vitamin K-dependent clotting factors],[16856],,,,, +GARD:18196,Active,Orphanet+OMIM,OMIM:607473,Subtype of disorder,[Disease subtype],"Vitamin k-dependent clotting factors, combined deficiency of, 2",,"Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome ({1:Fregin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clotting factors, see VKCFD1 ({277450}).",[607473],[98434],[Hereditary combined deficiency of vitamin K-dependent clotting factors],[16856],,,,, +GARD:18197,Active,Orphanet+OMIM,OMIM:614292,Subtype of disorder,[Disease subtype],"Myopia, high, with cataract and vitreoretinal degeneration",,,[614292],[98619],[Rare isolated myopia],[16859],,,,, +GARD:18198,Active,Orphanet+OMIM,OMIM:615431,Subtype of disorder,[Disease subtype],"Myopia 23, autosomal recessive",,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {3:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}.",[615431],[98619],[Rare isolated myopia],[16859],,,,, +GARD:18199,Active,Orphanet+OMIM,OMIM:616289,Subtype of disorder,[Disease subtype],Optic atrophy 9,,,[616289],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:182,Active,Orphanet,ORPHA:1243,Disorder,[Disease],Best vitelliform macular dystrophy,"[BMD, BVMD, Best disease, Best macular dystrophy, Early-onset vitelliform macular dystrophy, Juvenile-onset vitelliform macular dystrophy, Polymorphic vitelline macular degeneration, Vitelliform macular dystrophy type 2]","Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.",[153700],,,,,Best vitelliform macular dystrophy,TRUE,FALSE,Active +GARD:1820,Active,Orphanet,ORPHA:873,Disorder,[Disease],Desmoid tumor,"[Aggressive fibromatosis, Desmoid type fibromatosis]","A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.",[135290],,,,,Desmoid tumor,TRUE,FALSE,Active +GARD:18200,Active,Orphanet+OMIM,OMIM:616732,Subtype of disorder,[Disease subtype],"Optic atrophy 10 with or without ataxia, mental retardation, and seizures",,,[616732],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:18201,Active,Orphanet+OMIM,OMIM:617302,Subtype of disorder,[Disease subtype],Optic atrophy 11,,"OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by {1:Hartmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[617302],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:18202,Active,Orphanet+OMIM,OMIM:604364,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 1","[Epilepsy, familial focal, with variable foci, epilepsy, partial, with variable foci]","Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by {7:Klein et al., 2012}). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) ({1:Baulac et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Focal Epilepsy With Variable Foci\n\nSee also FFEVF2 ({617116}), caused by mutation in the NPRL2 gene ({607072}) on chromosome 3p21, FFEVF3 ({617118}), caused by mutation in the NPRL3 gene ({600928}) on chromosome 16p13, and FFEVF4 ({617935}), caused by mutation in the SCN3A gene ({182391}) on chromosome 2q24.",[604364],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18203,Active,Orphanet+OMIM,OMIM:617116,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 2",,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364}).",[617116],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18204,Active,Orphanet+OMIM,OMIM:617118,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 3",,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364}).",[617118],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18205,Active,Orphanet+OMIM,OMIM:263000,Subtype of disorder,[Disease subtype],"Interstitial pneumonitis, desquamative, familial","[Pneumonitis, desquamative interstitial, familial, interstitial lung disease, desquamative, ild, desquamative, pneumonia, desquamative interstitial, familial]","Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases ({12:Visscher and Myers, 2006}). See also interstitial lung disease-1 (ILD1; {619611}).\n\nDesquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by {7:Liebow et al. (1965)}. Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which {7:Liebow et al. (1965)} speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts ({12:Visscher and Myers, 2006}).\n\nAlthough DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking ({3:Carrington et al., 1978}), reports of a familial form with onset in infancy and early death suggest a genetic basis ({9:Sharief et al., 1994}).\n\nCases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults ({8:Nogee et al., 2001}).",[263000],[98852],[Desquamative interstitial pneumonia],[16864],,,,, +GARD:18206,Active,Orphanet+OMIM,OMIM:612998,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 4, autosomal dominant",[Emery-dreifuss muscular dystrophy 4 with variable features],,[612998],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18207,Active,Orphanet+OMIM,OMIM:612999,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 5, autosomal dominant",,,[612999],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18208,Active,Orphanet+OMIM,OMIM:614302,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 7, autosomal dominant",,"Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by {1:Liang et al., 2011}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[614302],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18209,Active,Orphanet+OMIM,OMIM:616516,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 3, autosomal recessive",,"Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by {1:Jimenez-Escrig et al., 2012}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[616516],[98855],[Autosomal recessive Emery-Dreifuss muscular dystrophy],[16866],,,,, +GARD:18210,Active,Orphanet+OMIM,OMIM:603034,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 5","[engel congenital myasthenic syndrome, cms ic, formerly, Endplate acetylcholinesterase deficiency, myasthenic syndrome, congenital, engel type, congenital myasthenic syndrome type ic, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[603034],[98915],[Synaptic congenital myasthenic syndromes],[16872],,,,, +GARD:18211,Active,Orphanet+OMIM,OMIM:139393,Subtype of disorder,[Disease subtype],"Guillain-barre syndrome, familial","[Polyneuropathy, inflammatory demyelinating, acute]","Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis ({13:Yuki and Tsujino, 1995}; {5:Koga et al., 2005}). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection ({9:Nachamkin, 2001}).\n\nAlthough rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance ({3:Geleijns et al., 2004}).",[139393],[98916],[Acute inflammatory demyelinating polyradiculoneuropathy],[16873],,,,, +GARD:18212,Active,Orphanet+OMIM,OMIM:122000,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 1","[maumenee corneal dystrophy, corneal dystrophy, hereditary polymorphous posterior, Posterior polymorphous corneal dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly]","Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells ({17:Krafchak et al., 2005}). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.\n\nClinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by {19:Liskova et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy\n\nOther forms of PPCD include PPCD2 ({609140}), caused by mutation in the COL8A2 gene ({120252}) on chromosome 1p34.3; PPCD3 ({609141}), caused by mutation in the ZEB1 gene ({189909}) on chromosome 10p; and PPCD4 ({618031}), caused by mutation in the GRHL2 gene ({608576}) on chromosome 8q22.",[122000],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18213,Active,Orphanet+OMIM,OMIM:609140,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 2",,,[609140],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18214,Active,Orphanet+OMIM,OMIM:609141,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 3",,,[609141],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18215,Active,Orphanet+OMIM,OMIM:618031,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 4",,"PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye ({1:Liskova et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PPCD, see {122000}.",[618031],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18216,Active,Orphanet+OMIM,OMIM:136800,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 1","[Corneal dystrophy, fuchs endothelial, early-onset]","Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by {2:Baratz et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy\n\nMore common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene ({610206}) on chromosome 20p13 (FECD4; {613268}), in the ZEB1 gene ({189909}) on chromosome 10p11.2 (FECD6; {613270}), and in the AGBL1 gene ({615496}) on chromosome 15q25 (FECD8; {615523}).\n\nOther loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; {610158}), 18q21.2-q21.32 (FECD3; {613267}), 5q33.1-q35.2 (FECD5; {613269}), and 9p (FECD7; {613271}).",[136800],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18217,Active,Orphanet+OMIM,OMIM:610158,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 2",,"Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[610158],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18218,Active,Orphanet+OMIM,OMIM:613267,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 3","[corneal dystrophy, fuchs endothelial, late-onset, Fcd2 locus]","Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613267],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18219,Active,Orphanet+OMIM,OMIM:613268,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 4","[Corneal dystrophy, fuchs endothelial, late-onset]","Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613268],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18220,Active,Orphanet+OMIM,OMIM:613269,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 5",,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 ({136800}).",[613269],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18221,Active,Orphanet+OMIM,OMIM:613270,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 6","[Corneal dystrophy, fuchs endothelial, late-onset]","Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613270],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18222,Active,Orphanet+OMIM,OMIM:613271,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 7",,"For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613271],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18223,Active,Orphanet+OMIM,OMIM:615523,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 8",,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of FECD, see FECD1 ({136800}).",[615523],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18224,Active,Orphanet+OMIM,OMIM:231300,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, a","[buphthalmos, Glaucoma, congenital]","Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by {1:Azmanov et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Primary Congenital Glaucoma\n\nPrimary congenital glaucoma-3B (GLC3B; {600975}) maps to chromosome 1p36.2-p36.1. GLC3C ({613085}) maps to chromosome 14q24.3. GLC3D ({613086}) is caused by mutation in the LTBP2 gene ({602091}) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E ({617272}) is caused by mutation in the TEK gene ({600221}) on chromosome 9p21.",[231300],"[98977, 98976]","[Juvenile glaucoma, Congenital glaucoma]","[16883, 2485]",,,,, +GARD:18225,Active,Orphanet+OMIM,OMIM:613085,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, c",,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).",[613085],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18226,Active,Orphanet+OMIM,OMIM:613086,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, d",,,[613086],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18227,Active,Orphanet+OMIM,OMIM:617272,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, e",,,[617272],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18228,Active,Orphanet+OMIM,OMIM:608695,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, j",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.\n\n{1:Wiggs et al. (2004)} identified 25 pedigrees with typical juvenile-onset primary open angle glaucoma (JOAG), demonstrating autosomal dominant inheritance. They sequenced the myocilin gene (MYOC; {601652}) in probands from each family and found mutations in 8%. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutations for a genomewide screen. Multipoint linkage analysis of chromosome 9 markers achieved a peak hlod score of 4.0 between markers D9S1803 and D9S196 on chromosome 9q22. Critical recombinants identified a 9-cM region between markers D9S1841 and D9S271.",[608695],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18229,Active,Orphanet+OMIM,OMIM:608696,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, k",,"For a general phenotypic description and a discussion of genetic heterogeneity of open angle glaucoma (POAG), see {137760}.",[608696],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:1823,Active,Orphanet,ORPHA:1799,Disorder,[Clinical syndrome],Familial developmental dysphasia,"[Billard-Toutain-Maheut syndrome, FOXP2-associated dysphasia]","Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.",[600117],,,,,Developmental dysphasia familial,TRUE,FALSE,Active +GARD:18230,Active,Orphanet+OMIM,OMIM:610535,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, m",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.",[610535],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18231,Active,Orphanet+OMIM,OMIM:611274,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, n",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.",[611274],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18232,Active,Orphanet+OMIM,OMIM:605728,Subtype of disorder,[Clinical subtype],Cataract 25,,,[605728],[98985],[Early-onset sutural cataract],[16885],,,,, +GARD:18233,Active,Orphanet+OMIM,OMIM:115800,Subtype of disorder,[Clinical subtype],Cataract 29,,"Coralliform cataracts are characterized by multiple coral-like white opacities that radiate out bilaterally in an axial direction from the center of the lens in a fusiform or spindle-shaped fashion but never actually reach the capsule (summary by {1:Gao et al., 2005}).",[115800],[98990],[Coralliform cataract],[16886],,,,, +GARD:18234,Active,Orphanet+OMIM,OMIM:116400,Subtype of disorder,[Clinical subtype],Cataract 41,"[Cataract 41, congenital nuclear type]","Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by {1:Berry et al., 2013}).",[116400],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18235,Active,Orphanet+OMIM,OMIM:607304,Subtype of disorder,[Clinical subtype],Cataract 27,,,[607304],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18236,Active,Orphanet+OMIM,OMIM:611391,Subtype of disorder,[Clinical subtype],"Cataract 33, multiple types",,"Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.",[611391],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18237,Active,Orphanet+OMIM,OMIM:169150,Subtype of disorder,[Disease subtype],"Macular dystrophy, patterned, 1","[butterfly dystrophy of retinal pigment epithelium, Patterned dystrophy of retinal pigment epithelium, macular dystrophy, butterfly-shaped pigmentary]","Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by {10:Vaclavik et al., 2012}).\n\nThree main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.\n\n<Subhead> Genetic Heterogeneity of Patterned Macular Dystrophy\n\nAlso see MDPT2 ({608970}), caused by mutation in the CTNNA1 gene ({116805}) on chromosome 5q31; and MDPT3 ({617111}), caused by mutation in the MAPKAPK3 gene ({602130}) on chromosome 3p21.",[169150],[99001],[Butterfly-shaped pigment dystrophy],[16890],,,,, +GARD:18238,Active,Orphanet+OMIM,OMIM:608970,Subtype of disorder,[Disease subtype],"Macular dystrophy, patterned, 2","[Macular dystrophy, butterfly-shaped pigmentary, 2]","Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by {4:van Lith-Verhoeven et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see {169150}.",[608970],[99001],[Butterfly-shaped pigment dystrophy],[16890],,,,, +GARD:18239,Active,Orphanet+OMIM,OMIM:179840,Subtype of disorder,[Disease subtype],Reticular dystrophy of retinal pigment epithelium,,"Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormalities of dark adaptation and nyctalopia may develop with time. Electrophysiologic testing may show a normal electroretinogram (ERG), subnormal electrooculogram (EOG), and subnormal results of dark adaptation studies (summary by {2:Kingham et al., 1978}).",[179840],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18240,Active,Orphanet+OMIM,OMIM:267800,Subtype of disorder,[Disease subtype],"Retinal dystrophy, reticular pigmentary, of posterior pole",,"Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, {169150}) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by {2:Schauwvlieghe et al., 2013}).",[267800],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18241,Active,Orphanet+OMIM,OMIM:617175,Subtype of disorder,[Disease subtype],Retinal dystrophy with or without extraocular anomalies,,,[617175],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18242,Active,Orphanet+OMIM,OMIM:271950,Subtype of disorder,[Clinical subtype],"Subaortic stenosis, membranous",,{1:Gale et al. (1974)} reported this anomaly in a brother and sister. No familial cases had been reported previously. {2:Richardson et al. (1991)} described one family in which a mother and daughter were affected and a second family in which a boy was found to have a subaortic ridge after repair of aortic coarctation and a maternal uncle likewise had 'fixed' subaortic stenosis.,[271950],[99051],[Discrete fixed membranous subaortic stenosis],[16892],,,,, +GARD:18243,Active,Orphanet+OMIM,OMIM:119570,Subtype of disorder,[Morphological anomaly subtype],Cleft soft palate,,{1:Jenkins and Stady (1980)} described a family with simple cleft palate (cleft of the soft palate) in 7 males of 5 sibships in 4 generations.,[119570],[99772],[Cleft velum],[16907],,,,, +GARD:18244,Active,Orphanet+OMIM,OMIM:106600,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 1","[Hypodontia/oligodontia 1, tooth agenesis, familial, second premolars and third molars, absence of]","Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by {3:Gorlin et al. (1990)}. The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.\n\nSelective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete ({8:Salinas, 1978}).\n\n<Subhead> Genetic Heterogeneity of Selective Tooth Agenesis\n\nOther forms of selective tooth agenesis include STHAG2 ({602639}), mapped to chromosome 16q12; STHAG3 ({604625}), caused by mutation in the PAX9 gene ({167416}) on chromosome 14q12; STHAG4 ({150400}), caused by mutation in the WNT10A gene ({606268}) on chromosome 2q35; STHAG5 ({610926}), mapped to chromosome 10q11; STHAG7 ({616724}), caused by mutation in the LRP6 gene ({603507}) on chromosome 12p13; STHAG8 ({617073}), caused by mutation in the WNT10B gene ({601906}) on chromosome 12q13; STHAG9 ({617275}), caused by mutation in the GREM2 gene ({608832}) on chromosome 1q43; and STHAGX1 ({313500}), caused by mutation in the EDA gene ({300451}) on chromosome Xq13.\n\nA type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; {601216}).\n\nOf 34 unrelated patients with nonsyndromic tooth agenesis, {9:van den Boogaard et al. (2012)} found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.\n\n<Subhead> Genotype-Phenotype Correlations\n\n{12:Yu et al. (2016)} observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.",[106600],[99798],[Oligodontia],[16908],,,,, +GARD:18245,Active,Orphanet+OMIM,OMIM:150400,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 4","[lateral incisors, absence of, Tooth agenesis, selective, 4, with or without ectodermal dysplasia, lateral incisors, pegged or missing, succedaneous teeth, agenesis of]",,[150400],[99798],[Oligodontia],[16908],,,,, +GARD:18246,Active,Orphanet+OMIM,OMIM:313500,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, x-linked, 1","[Hypodontia/oligodontia, x-linked, 1]",,[313500],[99798],[Oligodontia],[16908],,,,, +GARD:18247,Active,Orphanet+OMIM,OMIM:604625,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 3",[Hypodontia/oligodontia 3],,[604625],[99798],[Oligodontia],[16908],,,,, +GARD:18248,Active,Orphanet+OMIM,OMIM:610926,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 5",,"For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 ({106600}).",[610926],[99798],[Oligodontia],[16908],,,,, +GARD:18249,Active,Orphanet+OMIM,OMIM:616724,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 7",,,[616724],[99798],[Oligodontia],[16908],,,,, +GARD:18250,Active,Orphanet+OMIM,OMIM:617073,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 8",,,[617073],[99798],[Oligodontia],[16908],,,,, +GARD:18251,Active,Orphanet+OMIM,OMIM:268200,Subtype of disorder,[Disease subtype],"Myoglobinuria, acute recurrent, autosomal recessive","[rhabdomyolysis, acute recurrent, Myoglobinuria, familial paroxysmal paralytic]","Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome ({232600}), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency ({311800}), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. ({6:Ramesh and Gardner-Medwin, 1992}).\n\nSee {160010} for discussion of a possible autosomal dominant form of myglobinuria.\n\nSevere rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia ({145600}), an autosomal dominant disorder.",[268200],[99845],[Genetic recurrent myoglobinuria],[16916],,,,, +GARD:18252,Active,Orphanet+OMIM,OMIM:615889,Subtype of disorder,[Clinical subtype],"Leukoencephalopathy, progressive, with ovarian failure",,"Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by {1:Dallabona et al., 2014}).",[615889],[99853],[Ovarioleukodystrophy],[16918],,,,, +GARD:18253,Active,Orphanet+OMIM,OMIM:145000,Subtype of disorder,[Disease subtype],Hyperparathyroidism 1,"[Hyperparathyroidism, familial isolated primary]","Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by {28:Shibata et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Hyperparathyroidism\n\nHyperparathyroidism-2 with jaw tumors (HRPT2; {145001}), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3; {610071}) has been mapped to chromosome 2p14-p13.3. HRPT4 ({617343}) is caused by mutation in the GCM2 gene ({603716}) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT; {239200}) is caused by mutation in the CASR gene ({601199}) on chromosome 3q.\n\nFamilial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).\n\nFamilial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.",[145000],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18254,Active,Orphanet+OMIM,OMIM:600166,Subtype of disorder,[Disease subtype],"Hyperparathyroidism, primary, caused by water clear cell hyperplasia",,"Primary hyperparathyroidism due to water clear cell hyperplasia (WCCH) shows a strong association with blood group O ({2:Tisell et al., 1981}). {1:Hedbaeck and Oden (1994)} compared the blood groups of 32 cases of WCCH with those of 2 control groups, one with primary hyperparathyroidism due to other causes and the other with the population in a geographically defined area of Sweden. The blood group distribution differed between the 2 control groups, but the findings in the patients with WCCH differed with high significance (P = 0.00040). This association was thought to be by far the strongest association with the ABO system demonstrated to date.",[600166],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18255,Active,Orphanet+OMIM,OMIM:610071,Subtype of disorder,[Disease subtype],Hyperparathyroidism 3,,"For a phenotypic description and a discussion of genetic heterogeneity of familial primary hyperparathyroidism, see HRPT1 ({145000}).",[610071],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18256,Active,Orphanet+OMIM,OMIM:617343,Subtype of disorder,[Disease subtype],Hyperparathyroidism 4,,,[617343],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18257,Active,Orphanet+OMIM,OMIM:618883,Subtype of disorder,[Disease subtype],"Hypoparathyroidism, familial isolated, 2",,"Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; {168450}) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation ({5:Ding et al., 2001}). Some patients have been found to lack parathyroid glands ({8:Thomee et al., 2005}).\n\nFor a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 ({146200}).",[618883],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18258,Active,Orphanet+OMIM,OMIM:617607,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type iiib",,"Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places ({1:Smith et al., 2016}).",[617607],[100032],[Hypocalcified amelogenesis imperfecta],[16931],,,,, +GARD:18259,Active,Orphanet+OMIM,OMIM:300909,Subtype of disorder,[Disease subtype],"Angioedema induced by ace inhibitors, susceptibility to",,"Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) ({7:Israili and Hall, 1992}; {8:Vleeming et al., 1998}), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans ({3:Brown et al., 1996}; {5:Coats, 2002}). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies. The pathophysiology of ACEi-associated angioedema is thought to be related to increased circulating bradykinin, which is normally degraded by ACE. During pharmacologic ACE inhibition, bradykinin is primarily degraded by aminopeptidase P (summary by {6:Duan et al., 2005} and {9:Woodard-Grice et al., 2010}). Aminopeptidase P is encoded by 3 genes: XPNPEP1 ({602443}) on chromosome 10q25, XPNPEP2 ({300145}) on chromosome Xq25, and XPNPEP3 ({613553}) on chromosome 22q13.",[300909],[100057],[Renin-angiotensin-aldosterone system-blocker-induced angioedema],[16936],,,,, +GARD:18260,Active,Orphanet+OMIM,OMIM:270420,Subtype of disorder,[Disease subtype],"Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies","[Sodium diarrhea, congenital, diarrhea 3, secretory sodium, congenital, syndromic]",,[270420],[103908],[Congenital sodium diarrhea],[16945],,,,, +GARD:18261,Active,Orphanet+OMIM,OMIM:616868,Subtype of disorder,[Disease subtype],"Diarrhea 8, secretory sodium, congenital","[Diarrhea, congenital sodium]",,[616868],[103908],[Congenital sodium diarrhea],[16945],,,,, +GARD:18262,Active,Orphanet+OMIM,OMIM:158590,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iia","[charcot-marie-tooth disease, spinal, iia, neuropathy, distal hereditary motor, type iia, spinal muscular atrophy, distal, adult, autosomal dominant, iia, Hmn iia]",,[158590],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18263,Active,Orphanet+OMIM,OMIM:608634,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iib","[neuropathy, distal hereditary motor, type iib, Hmn iib]",,[608634],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18264,Active,Orphanet+OMIM,OMIM:613376,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iic","[neuropathy, distal hereditary motor, type iic, Hmn iic]",,[613376],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18265,Active,Orphanet+OMIM,OMIM:615575,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iid","[neuropathy, distal hereditary motor, type iid, spinal muscular atrophy, distal, autosomal dominant, calf-predominant, Hmn iid]","Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by {2:Sumner et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960}).",[615575],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18266,Active,Orphanet+OMIM,OMIM:600794,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type va","[Hmn 5a, neuronopathy, distal hereditary motor, type v, neuropathy, distal hereditary motor, type va, spinal muscular atrophy, distal, with upper limb predominance, dhmn va, spinal muscular atrophy, distal, type va, spinal muscular atrophy, distal, type v]","Distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A) is an autosomal dominant neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by {3:Christodoulou et al., 1995} and {4:Dubourg et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN1 ({182960}).",[600794],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18267,Active,Orphanet+OMIM,OMIM:614751,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type vb","[neuropathy, distal hereditary motor, type vb, spinal muscular atrophy, distal, type vb, Hmn vb, dhmn vb]","Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by {1:Beetz et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960}).",[614751],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18268,Active,Orphanet+OMIM,OMIM:619112,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type vc","[spinal muscular atrophy, distal, type 5c, Dhmn5c]","Distal hereditary motor neuronopathy type VC (dHMN5C or HMN5C) is an autosomal dominant neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMN5C, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by {8:Van de Warrenburg et al., 2006}; {7:Luigetti et al., 2010}; {4:Choi et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960}).",[619112],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18269,Active,Orphanet+OMIM,OMIM:158580,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type viia","[spinal muscular atrophy, distal, with vocal cord paralysis, Hmn viia, neuropathy, distal hereditary motor, type viia, dhmnvp, harper-young myopathy, dhmn7a]","Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by {1:Barwick et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960}).",[158580],[139589],[Distal hereditary motor neuropathy type 7],[16960],,,,, +GARD:1827,Active,Orphanet,ORPHA:1666,Disorder,[Morphological anomaly],Dextrocardia,,"A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.",,,,,,Dextrocardia,TRUE,FALSE,Active +GARD:18270,Active,Orphanet+OMIM,OMIM:607641,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type viib","[neuropathy, distal hereditary motor, with vocal cord paralysis, type viib, lower motor neuron disease, dynactin type, dhmn7b, Hmn viib, neuropathy, distal hereditary motor, type viib]",,[607641],[139589],[Distal hereditary motor neuropathy type 7],[16960],,,,, +GARD:18271,Active,Orphanet+OMIM,OMIM:613112,Subtype of disorder,[Disease subtype],"Macrothrombocytopenia, isolated, 1, autosomal dominant",,"Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding ({3:Kunishima et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Isolated Macrothrombocytopenia\n\nSee also MACTHC2 ({619840}), caused by mutation in the TUBA8 gene ({605742}) on chromosome 22q11.",[613112],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18272,Active,Orphanet+OMIM,OMIM:615193,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 15","[Macrothrombocytopenia, autosomal dominant, actn1-related]","Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by {1:Kunishima et al., 2013}).",[615193],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18273,Active,Orphanet+OMIM,OMIM:619271,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 24",[Glanzmann thrombasthenia-like with macrothrombocytopenia 2],"Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by {5:Kunishima et al., 2011} and {6:Nurden et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see {187800}.",[619271],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18274,Active,Orphanet+OMIM,OMIM:108760,Subtype of disorder,[Morphological anomaly subtype],Atresia of external auditory canal and conductive deafness,,,[108760],[141074],[External auditory canal aplasia/hypoplasia],[16969],,,,, +GARD:18275,Active,Orphanet+OMIM,OMIM:607842,Subtype of disorder,[Morphological anomaly subtype],"Aural atresia, congenital","[Aural atresia, congenital, with hyposmia]","{1:Altmann (1955)} was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years ({2:Cremers et al., 1988}; {7:Schuknecht, 1989}; {4:Jahrsdoerfer et al., 1992}). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by {3:Feenstra et al., 2011}).",[607842],[141074],[External auditory canal aplasia/hypoplasia],[16969],,,,, +GARD:18276,Active,Orphanet+OMIM,OMIM:610069,Subtype of disorder,[Disease subtype],"Polyposis syndrome, hereditary mixed, 2",,"Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer ({1:Cao et al., 2006}).\n\nFor a discussion of genetic heterogeneity of HMPS, see HMPS1 ({601228}).",[610069],[157794],[Hereditary mixed polyposis syndrome],[16981],,,,, +GARD:18277,Active,Orphanet+OMIM,OMIM:610313,Subtype of disorder,[Disease subtype],Crisponi/cold-induced sweating syndrome 2,,"Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {2:Hahn et al., 2010}). {1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment.\n\n{1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment.\n\nFor a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 ({272430}).",[610313],[157820],[Cold-induced sweating syndrome],[16983],,,,, +GARD:18278,Active,Orphanet+OMIM,OMIM:617055,Subtype of disorder,[Disease subtype],Perching syndrome,"[Crisponi/cold-induced sweating syndrome 3, formerly]","PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities ({4:Jeffries et al., 2019}). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome ({605039}) (summary by {5:Kanthi et al., 2019} and {3:Buers et al., 2020}).",[617055],[157820],[Cold-induced sweating syndrome],[16983],,,,, +GARD:18279,Active,Orphanet+OMIM,OMIM:611630,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 3",,"For a general description and a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL2 ({608096}).",[611630],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18280,Active,Orphanet+OMIM,OMIM:614417,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 5",,,[614417],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18281,Active,Orphanet+OMIM,OMIM:615697,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 6",,"For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 ({600512}).",[615697],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18282,Active,Orphanet+OMIM,OMIM:300643,Subtype of disorder,[Disease subtype],"Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked","[Rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked]",,[300643],[163721],[Rolandic epilepsy-speech dyspraxia syndrome],[17002],,,,, +GARD:18283,Active,Orphanet+OMIM,OMIM:614418,Subtype of disorder,[Disease subtype],"Febrile seizures, familial, 11","[Convulsions, familial febrile, 11]","Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by {1:Salzmann et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210}).",[614418],[165805],[Familial mesial temporal lobe epilepsy with febrile seizures],[17011],,,,, +GARD:18284,Active,Orphanet+OMIM,OMIM:163800,Subtype of disorder,[Disease subtype],Sick sinus syndrome 2,"[Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation, sinus node disease, familial, autosomal dominant, atrial fibrillation with bradyarrhythmia, sinus bradycardia syndrome, familial, autosomal dominant]",,[163800],[166282],[Familial sick sinus syndrome],[13663],,,,, +GARD:18285,Active,Orphanet+OMIM,OMIM:614090,Subtype of disorder,[Disease subtype],"Sick sinus syndrome 3, susceptibility to",,"Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by {1:Holm et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 ({608567}).",[614090],[166282],[Familial sick sinus syndrome],[13663],,,,, +GARD:18286,Active,Orphanet+OMIM,OMIM:613339,Subtype of disorder,[Disease subtype],"Epilepsy, hot water, 1",,"Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy in which seizures are precipitated by immersion in hot water or pouring of hot water over the head during bathing. The seizures are usually complex partial, but about 33% of patients experience secondary generalization. There are no additional neurologic abnormalities ({7:Satishchandra, 2003}).",[613339],[166412],[Hot water reflex epilepsy],[17028],,,,, +GARD:18287,Active,Orphanet+OMIM,OMIM:613340,Subtype of disorder,[Disease subtype],"Epilepsy, hot water, 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 ({613339}).",[613340],[166412],[Hot water reflex epilepsy],[17028],,,,, +GARD:18288,Active,Orphanet+OMIM,OMIM:273900,Subtype of disorder,[Etiological subtype],Thrombocytopenia 3,"[Thrombocytopenia, autosomal recessive, 3]","Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by {3:Levin et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[273900],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,,,, +GARD:18289,Active,Orphanet+OMIM,OMIM:612004,Subtype of disorder,[Etiological subtype],Thrombocytopenia 4,"[Thrombocytopenia, autosomal dominant, 4]",,[612004],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,,,, +GARD:18290,Active,Orphanet+OMIM,OMIM:610102,Subtype of disorder,[Disease subtype],Complement component 7 deficiency,[C7 deficiency],"Patients with C7 deficiency have an increased susceptibility to recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis ({14:Nishizaka et al., 1996}).",[610102],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18291,Active,Orphanet+OMIM,OMIM:612446,Subtype of disorder,[Disease subtype],Complement component 6 deficiency,[C6 deficiency],,[612446],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18292,Active,Orphanet+OMIM,OMIM:613825,Subtype of disorder,[Disease subtype],Complement component 9 deficiency,[C9 deficiency],,[613825],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18293,Active,Orphanet+OMIM,OMIM:608971,Subtype of disorder,[Disease subtype],Immunodeficiency 104,"[scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive]","Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 ({146660}) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative ({6:Roifman et al., 2000} and {1:Giliani et al., 2005}).\n\n{1:Giliani et al. (2005)} provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see {601457}.",[608971],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18294,Active,Orphanet+OMIM,OMIM:610163,Subtype of disorder,[Disease subtype],Immunodeficiency 25,[Immunodeficiency due to defect in cd3-zeta],,[610163],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18295,Active,Orphanet+OMIM,OMIM:615615,Subtype of disorder,[Disease subtype],Immunodeficiency 18,[Cd3-epsilon deficiency],"Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by {1:de Saint Basile et al., 2004}).",[615615],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18296,Active,Orphanet+OMIM,OMIM:615617,Subtype of disorder,[Disease subtype],Immunodeficiency 19,"[scid, t cell-negative, b cell-positive, nk cell-positive, severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, Cd3-delta deficiency]","Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by {4:Yu et al., 2011}).",[615617],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18297,Active,Orphanet+OMIM,OMIM:613658,Subtype of disorder,[Disease subtype],Rajab interstitial lung disease with brain calcifications 1,"[neurodevelopmental disorder with brain, liver, and lung abnormalities, formerly, developmental delay, small stature, microcephaly, and brain calcifications, formerly, Rajab interstitial lung disease with brain calcifications, rajab syndrome]","Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by {3:Xu et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications\n\nAlso see Rajab interstitial disease with brain calcifications-2 (RILDBC2; {619013}), caused by mutation in the FARSA gene ({602918}).",[613658],[178506],"[Brain calcification, Rajab type]",[17082],,,,, +GARD:18298,Active,Orphanet+OMIM,OMIM:619013,Subtype of disorder,[Disease subtype],Rajab interstitial lung disease with brain calcifications 2,,"Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts ({1:Krenke et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RILDBC, see RILDBC1 ({613658}).",[619013],[178506],"[Brain calcification, Rajab type]",[17082],,,,, +GARD:18299,Active,Orphanet+OMIM,OMIM:608203,Subtype of disorder,[Disease subtype],Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,[Neutrophil immunodeficiency syndrome],"Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by {1:Accetta et al., 2011}; review by {3:Lougaris et al., 2020}).\n\nIn a review of autosomal forms of chronic granulomatous disease (see {306400} for genetic heterogeneity of CGD), {4:Roos et al. (2021)} noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.",[608203],[183707],[Neutrophil immunodeficiency syndrome],[17087],,,,, +GARD:183,Legacy,GARD,,,,,,,,,,,,Bubonic plague,TRUE,FALSE,Active +GARD:18300,Active,Orphanet+OMIM,OMIM:618987,Subtype of disorder,[Disease subtype],Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,,,[618987],[183707],[Neutrophil immunodeficiency syndrome],[17087],,,,, +GARD:18301,Active,Orphanet+OMIM,OMIM:115300,Subtype of disorder,[Disease subtype],"Hypercarotenemia and vitamin a deficiency, autosomal dominant",,"In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by {4:Lindqvist et al., 2007}).\n\nSee also {277350} for possible autosomal recessive inheritance.",[115300],[199285],[Hereditary hypercarotenemia and vitamin A deficiency],[17090],,,,, +GARD:18302,Active,Orphanet+OMIM,OMIM:277350,Subtype of disorder,[Disease subtype],"Hypercarotenemia and vitamin a deficiency, autosomal recessive",,,[277350],[199285],[Hereditary hypercarotenemia and vitamin A deficiency],[17090],,,,, +GARD:18303,Active,Orphanet+OMIM,OMIM:600625,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 11,"[Cleft lip with or without cleft palate, nonsyndromic, 11]","Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril ({1:Castilla and Martinez-Frias, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 ({119530}).",[600625],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18304,Active,Orphanet+OMIM,OMIM:608864,Subtype of disorder,[Morphological anomaly subtype],"Orofacial cleft 6, susceptibility to","[Cleft lip with or without cleft palate, nonsyndromic, 6]","Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate ({5:Rahimov et al., 2008}; {4:Pan et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see {119530}.",[608864],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18305,Active,Orphanet+OMIM,OMIM:608874,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 5,"[Cleft lip with or without cleft palate, nonsyndromic, 5]",,[608874],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18306,Active,Orphanet+OMIM,OMIM:613705,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 10,"[Cleft lip with or without cleft palate, nonsyndromic, 10]",,[613705],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18307,Active,Orphanet+OMIM,OMIM:616788,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 15,,,[616788],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18308,Active,Orphanet+OMIM,OMIM:618149,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 8,"[Cleft lip with or without cleft palate, nonsyndromic, 8]","Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip ({2:Leoyklang et al., 2006}; {1:Basha et al., 2018}).",[618149],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18309,Active,Orphanet+OMIM,OMIM:612900,Subtype of disorder,[Disease subtype],"Cerebral palsy, spastic quadriplegic, 2",,"Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development ({5:Hughes and Newton, 1992}). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic ({605388}), and mixed ({4:Gustavson et al., 1969}).\n\n<Subhead> Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy\n\nSee also CPSQ3 ({617008}), caused by mutation in the ADD3 gene ({601568}) on 10q24.\n\nRelated phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), spastic paraplegia-52 (SPG52; 614067), and neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA; {619026}).",[612900],[210141],[Inherited congenital spastic tetraplegia],[17109],,,,, +GARD:18310,Active,Orphanet+OMIM,OMIM:617008,Subtype of disorder,[Disease subtype],"Cerebral palsy, spastic quadriplegic, 3",,,[617008],[210141],[Inherited congenital spastic tetraplegia],[17109],,,,, +GARD:18311,Active,Orphanet+OMIM,OMIM:245590,Subtype of disorder,[Disease subtype],"Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive","[Laron syndrome due to postreceptor defect, growth hormone insensitivity due to postreceptor defect]","Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 ({147440}), IGFBP3 ({146732}), and ALS ({601489}). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by {7:Kofoed et al., 2003}; {10:Vidarsdottir et al., 2006}).\n\nSee {262500} for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; {600946}).",[245590],[220465],[Laron syndrome with immunodeficiency],[17133],,,,, +GARD:18312,Active,Orphanet+OMIM,OMIM:618985,Subtype of disorder,[Disease subtype],"Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",,"Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 ({147440}). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by {1:Klammt et al., 2018}).",[618985],[220465],[Laron syndrome with immunodeficiency],[17133],,,,, +GARD:18313,Active,Orphanet+OMIM,OMIM:603284,Subtype of disorder,[Malformation syndrome subtype],Cerebral cavernous malformations 2,,,[603284],[221061],[Familial cerebral cavernous malformation],[13641],,,,, +GARD:18314,Active,Orphanet+OMIM,OMIM:603285,Subtype of disorder,[Malformation syndrome subtype],Cerebral cavernous malformations 3,,,[603285],[221061],[Familial cerebral cavernous malformation],[13641],,,,, +GARD:18315,Active,Orphanet+OMIM,OMIM:500003,Subtype of disorder,[Disease subtype],"Striatonigral degeneration, infantile, mitochondrial","[Bilateral striatal necrosis, infantile, mitochondrial, infantile bilateral striatal necrosis, mitochondrial]",,[500003],[225154],[Familial infantile bilateral striatal necrosis],[17141],,,,, +GARD:18316,Active,Orphanet+OMIM,OMIM:619115,Subtype of disorder,[Disease subtype],Combined osteogenesis imperfecta and ehlers-danlos syndrome 1,[Oieds syndrome 1],"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {2:Cabral et al., 2007}; {4:Malfait et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome\n\nAlso see OIEDS2 ({619120}), caused by mutation in the COL1A2 gene ({120160}) on chromosome 7q21.",[619115],[230857],[Ehlers-Danlos/osteogenesis imperfecta syndrome],[17156],,,,, +GARD:18317,Active,Orphanet+OMIM,OMIM:619120,Subtype of disorder,[Disease subtype],Combined osteogenesis imperfecta and ehlers-danlos syndrome 2,[Oieds syndrome 2],"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {4:Raff et al., 2000} and {1:Malfait et al., 2013}).\n\nFor a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see {619115}.",[619120],[230857],[Ehlers-Danlos/osteogenesis imperfecta syndrome],[17156],,,,, +GARD:18318,Active,Orphanet+OMIM,OMIM:609322,Subtype of disorder,[Clinical subtype],Rhabdoid tumor predisposition syndrome 1,"[Brain tumor, posterior fossa, of infancy, familial]","The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors ({12:Sevenet et al., 1999}).\n\nRhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors ({1:Beckwith and Palmer, 1978}). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) ({10:Parham et al., 1994}). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).\n\n<Subhead> Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome\n\nSee also RTPS2 ({613325}), caused by germline mutation in the SMARCA4 gene ({603254}) on chromosome 19p13.",[609322],[231108],[Familial rhabdoid tumor],[17159],,,,, +GARD:18319,Active,Orphanet+OMIM,OMIM:613325,Subtype of disorder,[Clinical subtype],Rhabdoid tumor predisposition syndrome 2,,"Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by {1:Foulkes et al., 2014}).\n\nSee also RTPS1 ({609322}), which is caused by mutation in the SMARCB1 gene ({601607}) on chromosome 22q11.",[613325],[231108],[Familial rhabdoid tumor],[17159],,,,, +GARD:1832,Legacy,GARD,,,,,,,,,,,,Diabetes hypogonadism deafness mental retardation,TRUE,FALSE,Retired +GARD:18320,Active,Orphanet+OMIM,OMIM:105800,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 1",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {16:Krischek and Inoue, 2006}).\n\n<Subhead> Genetic Heterogeneity of Intracranial Berry Aneurysm\n\nIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.\n\nOther mapped loci for intracranial berry aneurysm include ANIB2 ({608542}) on chromosome 19q13, ANIB3 ({609122}) on 1p36.13-p34.3, ANIB4 ({610213}) on 5p15.2-14.3, ANIB5 ({300870}) on Xp22, ANIB6 ({611892}) on 9p21, ANIB7 ({612161}) on 11q24-q25, ANIB8 ({612162}) on 14q23, ANIB9 ({612586}) on 2q, ANIB10 ({612587}) on 8q, and ANIB11 ({614252}) on 8p22. ANIB12 ({618734}) is caused by mutation in the THSD1 gene ({616821}).",[105800],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18321,Active,Orphanet+OMIM,OMIM:300870,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 5",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[300870],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18322,Active,Orphanet+OMIM,OMIM:609122,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 3",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[609122],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18323,Active,Orphanet+OMIM,OMIM:610213,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 4",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[610213],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18324,Active,Orphanet+OMIM,OMIM:611892,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 6",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {4:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[611892],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18325,Active,Orphanet+OMIM,OMIM:612161,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 7",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).",[612161],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18326,Active,Orphanet+OMIM,OMIM:612162,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 8",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[612162],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18327,Active,Orphanet+OMIM,OMIM:612586,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 9",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[612586],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18328,Active,Orphanet+OMIM,OMIM:612587,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 10",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[612587],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18329,Active,Orphanet+OMIM,OMIM:614252,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 11",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[614252],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18330,Active,Orphanet+OMIM,OMIM:618734,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 12",,"Rupture of an intracranial aneurysm (IA), an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage (SAH), a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).",[618734],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18331,Active,Orphanet+OMIM,OMIM:203300,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 1,"[delta storage pool disease, Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells]","Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes ({19:Oh et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Hermansky-Pudlak Syndrome\n\nHPS2 ({608233}) is caused by mutation in the AP3B1 gene ({603401}) on chromosome 5q14. HPS3 ({614072}) is caused by mutation in the HSP3 gene ({606118}) on chromosome 3q24. HPS4 ({614073}) is caused by mutation in the HSP4 gene ({606682}) on chromosome 22q12. HPS5 ({614074}) is caused by mutation in the HPS5 gene ({607521}) on chromosome 11p14. HPS6 ({614075}) is caused by mutation in the HPS6 gene ({607522}) on chromosome 10q24. HPS7 ({614076}) is caused by mutation in the DTNBP1 gene ({607145}) on chromosome 6p22. HPS8 ({614077}) is caused by mutation in the BLOC1S3 gene ({609762}) on chromosome 19q13. HPS9 ({614171}) is caused by mutation in the PLDN gene ({604310}) on chromosome 15q21. HPS10 ({617050}) is caused by mutation in the AP3D1 gene ({607246}) on chromosome 19p13. HPS11 ({619172}) is caused by mutation in the BLOC1S5 gene ({607289}) on chromosome 6p24.",[203300],[231500],[Hermansky-Pudlak syndrome due to BLOC-3 deficiency],[17168],,,,, +GARD:18332,Active,Orphanet+OMIM,OMIM:614073,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 4,,"Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis ({1:Anderson et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[614073],[231500],[Hermansky-Pudlak syndrome due to BLOC-3 deficiency],[17168],,,,, +GARD:18333,Active,Orphanet+OMIM,OMIM:614072,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 3,,,[614072],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18334,Active,Orphanet+OMIM,OMIM:614074,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 5,,"Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients ({2:Ringeisen et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[614074],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18335,Active,Orphanet+OMIM,OMIM:614075,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 6,,,[614075],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18336,Active,Orphanet+OMIM,OMIM:614076,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 7,,,[614076],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18337,Active,Orphanet+OMIM,OMIM:614077,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 8,,,[614077],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18338,Active,Orphanet+OMIM,OMIM:614171,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 9,,,[614171],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18339,Active,Orphanet+OMIM,OMIM:619172,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 11,,"Hermansky-Pudlak syndrome-11 (HPS11) is characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis. Patients lack detectable platelet dense granules, and show mildly impaired activation-induced ATP release and platelet aggregation in vitro ({1:Pennamen et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[619172],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18340,Active,Orphanet+OMIM,OMIM:607748,Subtype of disorder,[Disease subtype],"Hypercholanemia, familial 1","[Bile acid, elevated serum]","Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy ({2:Morton et al., 2000}; {3:Shneider et al., 1997}; summary by {1:Carlton et al., 2003}).\n\nSee also bile acid conjugation defect-1 (BACD1; {619232}), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated.\n\n<Subhead> Genetic Heterogeneity of FHCA\n\nSee FHCA2 ({619256}), caused by mutation in the SLC10A1 gene ({182396}) on chromosome 14q24.",[607748],[238475],[Familial hypercholanemia],[17173],,,,, +GARD:18341,Active,Orphanet+OMIM,OMIM:619256,Subtype of disorder,[Disease subtype],"Hypercholanemia, familial, 2",[Ntcp deficiency],"Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by {1:Deng et al., 2016} and {3:Liu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of FHCA, see FHCA1 ({607748}).",[619256],[238475],[Familial hypercholanemia],[17173],,,,, +GARD:18342,Active,Orphanet+OMIM,OMIM:612567,Subtype of disorder,[Disease subtype],"Inflammatory bowel disease 25, autosomal recessive","[Inflammatory bowel disease, early-onset, autosomal recessive]",,[612567],[238569],[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome],[13016],,,,, +GARD:18343,Active,Orphanet+OMIM,OMIM:613148,Subtype of disorder,[Disease subtype],"Inflammatory bowel disease 28, autosomal recessive","[Inflammatory bowel disease, early-onset, autosomal recessive]",,[613148],[238569],[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome],[13016],,,,, +GARD:18344,Active,Orphanet+OMIM,OMIM:609454,Subtype of disorder,[Clinical subtype],"Supranuclear palsy, progressive, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104}).",[609454],[240071],[Classic progressive supranuclear palsy syndrome],[17182],,,,, +GARD:18345,Active,Orphanet+OMIM,OMIM:610898,Subtype of disorder,[Clinical subtype],"Supranuclear palsy, progressive, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104}).",[610898],[240071],[Classic progressive supranuclear palsy syndrome],[17182],,,,, +GARD:18346,Active,Orphanet+OMIM,OMIM:612286,Subtype of disorder,[Disease subtype],"Nephrolithiasis/osteoporosis, hypophosphatemic, 1",,,[612286],[244305],[Dominant hypophosphatemia with nephrolithiasis or osteoporosis],[17186],,,,, +GARD:18347,Active,Orphanet+OMIM,OMIM:612287,Subtype of disorder,[Disease subtype],"Nephrolithiasis/osteoporosis, hypophosphatemic, 2",,,[612287],[244305],[Dominant hypophosphatemia with nephrolithiasis or osteoporosis],[17186],,,,, +GARD:18348,Active,Orphanet+OMIM,OMIM:615851,Subtype of disorder,[Disease subtype],"Pontocerebellar hypoplasia, type 2e",,"Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by {2:Feinstein et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[615851],[247198],[Progressive cerebello-cerebral atrophy],[17187],,,,, +GARD:18349,Active,Orphanet+OMIM,OMIM:239300,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 1,"[Mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2]","Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by {4:Krawitz et al., 2010}). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 ({610293}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome\n\nSee also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13; HPMRS3 ({614207}), caused by mutation in the PGAP2 gene ({615187}) on chromosome 11p15; HPMRS4 ({615716}), caused by mutation in the PGAP3 gene ({611801}) on chromosome 17q12; HPMRS5 ({616025}), caused by mutation in the PIGW gene ({610275}) on chromosome 17q12; and HPMRS6 ({616809}), caused by mutation in the PIGY gene ({610662}) on chromosome 4q22.\n\n{3:Knaus et al. (2018)} provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. {3:Knaus et al. (2018)} concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).",[239300],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18350,Active,Orphanet+OMIM,OMIM:614207,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 3,"[Mental retardation, autosomal recessive 17, glycosylphosphatidylinositol biosynthesis defect 8, mental retardation, autosomal recessive 21]","Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by {2:Hansen et al., 2013}). However, the severity of the disorder can also vary to include milder intellectual disability ({3:Krawitz et al., 2013}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[614207],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18351,Active,Orphanet+OMIM,OMIM:614749,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 2,[Glycosylphosphatidylinositol biosynthesis defect 6],"Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by {1:Krawitz et al., 2012}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[614749],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18352,Active,Orphanet+OMIM,OMIM:615716,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 4,[Glycosylphosphatidylinositol biosynthesis defect 10],"Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by {3:Howard et al., 2014}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[615716],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18353,Active,Orphanet+OMIM,OMIM:616025,Subtype of disorder,[Disease subtype],Glycosylphosphatidylinositol biosynthesis defect 11,[Hyperphosphatasia with mental retardation syndrome 5],"GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {2:Hogrebe et al., 2016}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616025],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18354,Active,Orphanet+OMIM,OMIM:616809,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 6,[Glycosylphosphatidylinositol biosynthesis defect 12],"Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by {1:Ilkovski et al., 2015}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616809],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18355,Active,Orphanet+OMIM,OMIM:609820,Subtype of disorder,[Disease subtype],"Erythrocytosis, familial, 3",,,[609820],[247511],[Autosomal dominant secondary polycythemia],[17189],,,,, +GARD:18356,Active,Orphanet+OMIM,OMIM:611783,Subtype of disorder,[Disease subtype],"Erythrocytosis, familial, 4",,"Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; {133170}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 ({133100}).",[611783],[247511],[Autosomal dominant secondary polycythemia],[17189],,,,, +GARD:18357,Active,Orphanet+OMIM,OMIM:617626,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 5","[fibromatosis, gingival, hereditary, 5, Ggf5]","Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by {2:Pehlivan et al., 2009}).",[617626],[2024],[Hereditary gingival fibromatosis],[16582],,,,, +GARD:18358,Active,Orphanet+OMIM,OMIM:614134,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type iv",,,[614134],[250984],[Autosomal recessive Stickler syndrome],[17203],,,,, +GARD:18359,Active,Orphanet+OMIM,OMIM:614284,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type v",,,[614284],[250984],[Autosomal recessive Stickler syndrome],[17203],,,,, +GARD:18360,Active,Orphanet+OMIM,OMIM:615542,Subtype of disorder,[Malformation syndrome subtype],Testicular anomalies with or without congenital heart disease,,,[615542],[251510],"[46,XY partial gonadal dysgenesis]",[17211],,,,, +GARD:18361,Active,Orphanet+OMIM,OMIM:616067,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 9","[46,xy sex reversal, zfpm2-related]",,[616067],[251510],"[46,XY partial gonadal dysgenesis]",[17211],,,,, +GARD:18362,Active,Orphanet+OMIM,OMIM:619096,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 2,,"Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; {162200}) may be present. Microsatellite instability may be detected in tumor samples ({2:Muller et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 ({276300}).",[619096],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18363,Active,Orphanet+OMIM,OMIM:619097,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 3,,"Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; {162200}) may be present ({2:Hegde et al., 2005}, {4:Ostergaard et al., 2005}). Microsatellite instability may be detected in tumor samples ({2:Hegde et al., 2005}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300}).",[619097],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18364,Active,Orphanet+OMIM,OMIM:619101,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 4,,"Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by {11:Li et al., 2015}). Cafe-au-lait spots are usually present ({4:De Vos et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300}).",[619101],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18365,Active,Orphanet+OMIM,OMIM:231090,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 1","[Hydatidiform mole, hydatidiform mole, complete, gestational trophoblastic disease]","A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {6:Fallahian et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Recurrent Hydatidiform Mole\n\nAnother form of recurrent complete hydatidiform mole (HYDM2; {614293}) is caused by mutation in the KHDC3L gene ({611687}) on chromosome 6q13. HYDM3 ({618431}) is caused by mutation in the MEI1 gene ({608797}) on chromosome 22q13. HYDM4 ({618432}) is caused by mutation in the C11ORF80 gene ({616109}) on chromosome 11q13.",[231090],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18366,Active,Orphanet+OMIM,OMIM:614293,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 2","[Hydatidiform mole, complete]","A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {1:Fallahian et al., 2013}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[614293],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18367,Active,Orphanet+OMIM,OMIM:618431,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 3",,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[618431],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18368,Active,Orphanet+OMIM,OMIM:618432,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 4",,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[618432],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18369,Active,Orphanet+OMIM,OMIM:609560,Subtype of disorder,[Disease subtype],Mitochondrial dna depletion syndrome 2 (myopathic type),"[Mitochondrial dna depletion myopathy, tk2-related]","Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later childhood onset of a slowly progressive myopathy ({10:Oskoui et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041}).",[609560],[254875],"[Mitochondrial DNA depletion syndrome, myopathic form]",[17228],,,,, +GARD:18370,Active,Orphanet+OMIM,OMIM:618972,Subtype of disorder,[Disease subtype],Mitochondrial dna depletion syndrome 19,,,[618972],[254875],"[Mitochondrial DNA depletion syndrome, myopathic form]",[17228],,,,, +GARD:18371,Active,Orphanet+OMIM,OMIM:618235,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 13",,,[618235],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18372,Active,Orphanet+OMIM,OMIM:618239,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 17",,,[618239],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18373,Active,Orphanet+OMIM,OMIM:618243,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 22",,,[618243],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18374,Active,Orphanet+OMIM,OMIM:618244,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 23",,"Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by {1:Magrinelli et al., 2022}).",[618244],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18375,Active,Orphanet+OMIM,OMIM:618248,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 27",,,[618248],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18376,Active,Orphanet+OMIM,OMIM:618249,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 28",,,[618249],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18377,Active,Orphanet+OMIM,OMIM:618257,Subtype of disorder,"[Etiological subtype, Disease subtype]","Deafness, autosomal recessive 112",,"DFNB112 is characterized by postlingual progressive sensorineural hearing impairment ({1:Girotto et al., 2013}).",[618257],"[255241, 90636]","[Autosomal recessive non-syndromic sensorineural deafness type DFNB, Leigh syndrome with leukodystrophy]","[17238, 18644]",,,,, +GARD:18378,Active,Orphanet+OMIM,OMIM:607426,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 1","[coenzyme q deficiency 1, ubiquinone deficiency 1, coq deficiency 1, Coq10 deficiency, primary, 1]","Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by {10:Quinzii and Hirano, 2011}). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain ({4:Duncan et al., 2009}).\n\nThe disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia ({9:Ogasahara et al., 1989}); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure ({14:Rotig et al., 2000}); a predominantly cerebellar form with ataxia and cerebellar atrophy ({6:Lamperti et al., 2003}); and Leigh syndrome with growth retardation ({17:van Maldergem et al., 2002}). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.\n\n<Subhead> Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency\n\nSee also COQ10D2 ({614651}), caused by mutation in the PDSS1 gene ({607429}) on chromosome 10p12; COQ10D3 ({614652}), caused by mutation in the PDSS2 gene ({610564}) on chromosome 6q21; COQ10D4 ({612016}), caused by mutation in the COQ8 gene (ADCK3; {606980}) on chromosome 1q42; COQ10D5 ({614654}), caused by mutation in the COQ9 gene ({612837}) on chromosome 16q21; COQ10D6 ({614650}), caused by mutation in the COQ6 gene ({614647}) on chromosome 14q24; COQ10D7 ({616276}), caused by mutation in the COQ4 gene ({612898}) on chromosome 9q34; COQ10D8 ({616733}), caused by mutation in the COQ7 gene ({601683}) on chromosome 16p13; and COQ10D9 ({619028}), caused by mutation in the COQ5 gene ({616359}) on chromosome 12q24.\n\nSecondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; {231680}), caused by mutation in the ETFDH gene ({231675}) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; {208920}), caused by mutation in the APTX gene ({606350}) on chromosome 9p13.",[607426],[255249],[Leigh syndrome with nephrotic syndrome],[17239],,,,, +GARD:18379,Active,Orphanet+OMIM,OMIM:614652,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 3",,,[614652],[255249],[Leigh syndrome with nephrotic syndrome],[17239],,,,, +GARD:18380,Active,Orphanet+OMIM,OMIM:182170,Subtype of disorder,[Disease subtype],"Anemia, sideroblastic, 4",,"Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia ({3:van Waveren Hogervorst et al., 1987}; {2:Schmitz-Abe et al., 2015}).\n\nFor a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 ({300751}).",[182170],[260305],[Autosomal recessive sideroblastic anemia],[17240],,,,, +GARD:18381,Active,Orphanet+OMIM,OMIM:205950,Subtype of disorder,[Disease subtype],"Anemia, sideroblastic, 2, pyridoxine-refractory",,,[205950],[260305],[Autosomal recessive sideroblastic anemia],[17240],,,,, +GARD:18382,Active,Orphanet+OMIM,OMIM:617768,Subtype of disorder,[Etiological subtype],Kleefstra syndrome 2,,"Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by {3:Koemans et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 ({610253}).",[617768],[261652],[Kleefstra syndrome due to a point mutation],[17253],,,,, +GARD:18383,Active,Orphanet+OMIM,OMIM:619082,Subtype of disorder,[Disease subtype],"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",,"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma ({1:Cai et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma\n\nMRCS2 (see {193220}) is caused by mutation in the BEST1 gene ({607854}) on chromosome 11q12; 1 such family has been reported.",[619082],[263347],[MRCS syndrome],[17255],,,,, +GARD:18384,Active,Orphanet+OMIM,OMIM:614212,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced, susceptibility to, 4",,"Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by {1:Chen et al., 2005}; {4:Shinohara et al., 2011}).\n\nFor a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.",[614212],[263524],[Acute necrotizing encephalopathy of childhood],[17257],,,,, +GARD:18385,Active,Orphanet+OMIM,OMIM:607174,Subtype of disorder,[Disease subtype],"Meningioma, familial, susceptibility to",,"Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare ({58:Zang, 2001}).\n\nFamilial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis ({162091}), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; {613028}) associated with a mutation in the PTEN gene ({601728}) developed a meningioma ({51:Staal et al., 2002}).",[607174],[263662],[Familial multiple meningioma],[17260],,,,, +GARD:18386,Active,Orphanet+OMIM,OMIM:306000,Subtype of disorder,[Disease subtype],Glycogen storage disease ixa1,"[gsd viii, formerly, glycogen storage disease viii, formerly, Liver glycogenosis, x-linked, type i]","Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; {172490}), gamma (PHKG2; {172471}), and delta (CALM1; {114180}). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B ({261750}), and GSD9C ({613027}), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.\n\nGSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes ({22:Keating et al., 1985}; {10:Hendrickx et al., 1994}; {1:Beauchamp et al., 2007}).\n\nSee also X-linked muscle PHK deficiency (GSD9D; {300559}), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; {311870}).",[306000],[264580],[Glycogen storage disease due to liver phosphorylase kinase deficiency],[17261],,,,, +GARD:18387,Active,Orphanet+OMIM,OMIM:613027,Subtype of disorder,[Disease subtype],Glycogen storage disease ixc,[Gsd ixc],"Glycogen storage disease IXc (GSD9C) is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis ({4:Burwinkel et al., 1998}).\n\nFor a general description and a discussion of genetic heterogeneity of GSD IX, see GSD9A ({306000}).",[613027],[264580],[Glycogen storage disease due to liver phosphorylase kinase deficiency],[17261],,,,, +GARD:18388,Active,Orphanet+OMIM,OMIM:615135,Subtype of disorder,[Clinical subtype],"Maple syrup urine disease, mild variant",,"The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by {2:Oyarzabal et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see {248600}.",[615135],[268162],[Intermediate maple syrup urine disease],[17264],,,,, +GARD:18389,Active,Orphanet+OMIM,OMIM:189800,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 1,"[Preg1, pee, toxemia of pregnancy]","Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {40:Payne et al., 2011}).\n\nPreeclampsia is otherwise known as gestational proteinuric hypertension ({16:Davey and MacGillivray, 1988}). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition ({19:Fisher et al., 1981}). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) ({9:Brown et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Preeclampsia/Eclampsia\n\nSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 ({609402}) on chromosome 2p25, and PEE3 ({609403}) on chromosome 9p13. PEE4 ({609404}) is caused by mutation in the STOX1 gene ({609397}) on chromosome 10q22. PEE5 ({614595}) is caused by mutation in the CORIN gene ({605236}) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene ({132810}) on chromosome 1q.",[189800],[275555],[Preeclampsia],[12924],,,,, +GARD:1839,Active,Orphanet,ORPHA:99886,Disorder,[Disease],Transient neonatal diabetes mellitus,[TNDM],"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.","[610374, 610582, 601410]",,,,,Transient neonatal diabetes mellitus,TRUE,FALSE,Active +GARD:18390,Active,Orphanet+OMIM,OMIM:609402,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800}).",[609402],[275555],[Preeclampsia],[12924],,,,, +GARD:18391,Active,Orphanet+OMIM,OMIM:609403,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800}).",[609403],[275555],[Preeclampsia],[12924],,,,, +GARD:18392,Active,Orphanet+OMIM,OMIM:609404,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 4,,,[609404],[275555],[Preeclampsia],[12924],,,,, +GARD:18393,Active,Orphanet+OMIM,OMIM:614595,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 5,,"Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {2:Payne et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia/eclampsia, see PEE1 ({189800}).",[614595],[275555],[Preeclampsia],[12924],,,,, +GARD:18394,Active,Orphanet+OMIM,OMIM:615342,Subtype of disorder,[Etiological subtype],"Pulmonary hypertension, primary, 2",,,[615342],[275777],[Heritable pulmonary arterial hypertension],[11914],,,,, +GARD:18395,Active,Orphanet+OMIM,OMIM:619132,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 8,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; {157140})- and TDP43 ({605078})-immunoreactive inclusions (summary by {1:Dobson-Stone et al., 2020}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[619132],[275864],[Behavioral variant of frontotemporal dementia],[7392],,,,, +GARD:18396,Active,Orphanet+OMIM,OMIM:105550,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,"[amyotrophic lateral sclerosis and/or frontotemporal dementia, frontotemporal dementia and/or motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis]","Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by {54:Vance et al., 2006}). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by {17:Harms et al., 2013}). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia ({31:Meisler et al., 2013}; {15:Gomez-Tortosa et al., 2013}).\n\n{41:Ranganathan et al. (2020)} provided a detailed review of the genes involved in different forms of FTDALS, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.\n\nFor a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see {600274}. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; {105400}).\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis\n\nSee also FTDALS2 ({615911}), caused by mutation in the CHCHD10 gene ({615903}) on chromosome 22q11; FTDALS3 ({616437}), caused by mutation in the SQSTM1 gene ({601530}) on chromosome 5q35; FTDALS4 ({616439}), caused by mutation in the TBK1 gene ({604834}) on chromosome 12q14; FTDALS5 ({619141}), caused by mutation in the CCNF gene ({600227}) on chromosome 16p13; FTDALS6 ({613954}), caused by mutation in the VCP gene ({601023}) on chromosome 9p13; FTDALS7 ({600795}), caused by mutation in the CHMP2B gene ({609512}) on chromosome 3p11; and FTDALS8 ({619132}), caused by mutation in the CYLD gene ({605018}) on chromosome 16q12.",[105550],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18397,Active,Orphanet+OMIM,OMIM:615911,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,,,[615911],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18398,Active,Orphanet+OMIM,OMIM:616439,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 4,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by {2:Freischmidt et al., 2015}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[616439],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18399,Active,Orphanet+OMIM,OMIM:606766,Subtype of disorder,[Disease subtype],Spermatogenic failure 3,,"In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia ({1:Dirami et al., 2013}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[606766],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:184,Active,Orphanet,ORPHA:662,Disorder,[Disease],Yellow nail syndrome,"[Lymphedema with yellow nails, YNS]","A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.",[153300],,,,,Yellow nail syndrome,TRUE,FALSE,Active +GARD:1840,Legacy,GARD,,,,,,,,,,,,Diabetes persistent mullerian ducts,TRUE,FALSE,Active +GARD:18400,Active,Orphanet+OMIM,OMIM:612997,Subtype of disorder,[Disease subtype],Spermatogenic failure 7,"[Male infertility, nonsyndromic, autosomal recessive]",,[612997],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18401,Active,Orphanet+OMIM,OMIM:614822,Subtype of disorder,[Disease subtype],Spermatogenic failure 10,[Spermatogenic failure with defective sperm annulus],"Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by {1:Kuo et al., 2012}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[614822],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18402,Active,Orphanet+OMIM,OMIM:617576,Subtype of disorder,[Disease subtype],Spermatogenic failure 18,,"Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella ({2:Ben Khelifa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617576],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18403,Active,Orphanet+OMIM,OMIM:617592,Subtype of disorder,[Disease subtype],Spermatogenic failure 19,,"Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617592],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18404,Active,Orphanet+OMIM,OMIM:617593,Subtype of disorder,[Disease subtype],Spermatogenic failure 20,,"Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617593],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18405,Active,Orphanet+OMIM,OMIM:617965,Subtype of disorder,[Disease subtype],Spermatogenic failure 27,,"Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization ({1:Lores et al., 2018}).\n\nFor a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617965],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18406,Active,Orphanet+OMIM,OMIM:618152,Subtype of disorder,[Disease subtype],Spermatogenic failure 33,,"Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present ({2:Kherraf et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618152],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18407,Active,Orphanet+OMIM,OMIM:618153,Subtype of disorder,[Disease subtype],Spermatogenic failure 34,,"Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present ({1:Martinez et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618153],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18408,Active,Orphanet+OMIM,OMIM:618429,Subtype of disorder,[Disease subtype],Spermatogenic failure 37,,"Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen ({1:Liu et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618429],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18409,Active,Orphanet+OMIM,OMIM:618433,Subtype of disorder,[Disease subtype],Spermatogenic failure 38,,"Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella ({1:Coutton et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618433],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18410,Active,Orphanet+OMIM,OMIM:618643,Subtype of disorder,[Disease subtype],Spermatogenic failure 39,,"Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. Patient spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella; abnormalities of the sperm head and midpiece have also been observed. Ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells ({2:Whitfield et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618643],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18411,Active,Orphanet+OMIM,OMIM:618664,Subtype of disorder,[Disease subtype],Spermatogenic failure 40,,"Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia ({4:Wang et al., 2019}; {2:Li et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618664],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18412,Active,Orphanet+OMIM,OMIM:618670,Subtype of disorder,[Disease subtype],Spermatogenic failure 41,,"Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities ({1:Beurois et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618670],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18413,Active,Orphanet+OMIM,OMIM:618745,Subtype of disorder,[Disease subtype],Spermatogenic failure 42,,"Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece ({3:Lores et al., 2019}; {2:Liu et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618745],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18414,Active,Orphanet+OMIM,OMIM:618751,Subtype of disorder,[Disease subtype],Spermatogenic failure 43,,"Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis ({3:Liu et al., 2019}; {4:Sha et al., 2019}; {2:Liu et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618751],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18415,Active,Orphanet+OMIM,OMIM:600081,Subtype of disorder,[Disease subtype],"Vitamin d hydroxylation-deficient rickets, type 1b","[Vitamin d-dependent rickets, type 1b, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency]","Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation ({5:Molin et al., 2017}). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by {4:Liberman and Marx, 2001}).",[600081],[289157],[Hypocalcemic vitamin D-dependent rickets],[17319],,,,, +GARD:18416,Active,Orphanet+OMIM,OMIM:241520,Subtype of disorder,[Disease subtype],"Hypophosphatemic rickets, autosomal recessive, 1","[hypophosphatemia, autosomal recessive, Arhr]",,[241520],[289176],[Autosomal recessive hypophosphatemic rickets],[17320],,,,, +GARD:18417,Active,Orphanet+OMIM,OMIM:613312,Subtype of disorder,[Disease subtype],"Hypophosphatemic rickets, autosomal recessive, 2",,,[613312],[289176],[Autosomal recessive hypophosphatemic rickets],[17320],,,,, +GARD:18418,Active,Orphanet+OMIM,OMIM:193000,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 1,,"Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by {16:Lu et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Vesicoureteral Reflux\n\nA locus designated VUR1 maps to chromosome 1p13. VUR2 ({610878}) is caused by mutation in the ROBO2 gene ({602431}) on chromosome 3p12; VUR3 ({613674}) is caused by mutation in the SOX17 gene ({610928}) on chromosome 8q11; VUR4 ({614317}) maps to chromosome 5; VUR5 ({614318}) maps to chromosome 13; VUR6 ({614319}) maps to chromosome 18; VUR7 ({615390}) maps to chromosome 12; and VUR8 ({615963}) is caused by mutation in the TNXB gene ({600985}) on chromosome 6p21. A possible X-linked form has been reported (VURX; {314550}).",[193000],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18419,Active,Orphanet+OMIM,OMIM:610878,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 2,,,[610878],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18420,Active,Orphanet+OMIM,OMIM:613674,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 3,,,[613674],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18421,Active,Orphanet+OMIM,OMIM:614317,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 4,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614317],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18422,Active,Orphanet+OMIM,OMIM:614318,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 5,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614318],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18423,Active,Orphanet+OMIM,OMIM:614319,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 6,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614319],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18424,Active,Orphanet+OMIM,OMIM:615390,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 7,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux (VUR), see {193000}.",[615390],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18425,Active,Orphanet+OMIM,OMIM:615963,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 8,,,[615963],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18426,Active,Orphanet+OMIM,OMIM:607936,Subtype of disorder,[Disease subtype],Peeling skin syndrome 4,"[ichthyosis, exfoliative, autosomal recessive, Ichthyosis bullosa of siemens-like]",,[607936],[289586],[Exfoliative ichthyosis],[17329],,,,, +GARD:18427,Active,Orphanet+OMIM,OMIM:617115,Subtype of disorder,[Disease subtype],Peeling skin syndrome 5,,"Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ({1:Pigors et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300}).",[617115],[289586],[Exfoliative ichthyosis],[17329],,,,, +GARD:18428,Active,Orphanet+OMIM,OMIM:265050,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 2,"[Ptosis of eyelids with diastasis recti and hip dysplasia, oculo-skeletal-abdominal syndrome, osa syndrome, carnevale syndrome, formerly]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {6:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).",[265050],[293843],[3MC syndrome],[1118],,,,, +GARD:18429,Active,Orphanet+OMIM,OMIM:614328,Subtype of disorder,[Disease subtype],"Inflammatory skin and bowel disease, neonatal, 1",,,[614328],[294023],[Neonatal inflammatory skin and bowel disease],[17355],,,,, +GARD:1843,Legacy,GARD,,,,,,,,,,,,Diaphragmatic agenesis radial aplasia omphalocele,TRUE,FALSE,Active +GARD:18430,Active,Orphanet+OMIM,OMIM:616069,Subtype of disorder,[Disease subtype],"Inflammatory skin and bowel disease, neonatal, 2",,,[616069],[294023],[Neonatal inflammatory skin and bowel disease],[17355],,,,, +GARD:18431,Active,Orphanet+OMIM,OMIM:208540,Subtype of disorder,[Malformation syndrome subtype],Renal-hepatic-pancreatic dysplasia 1,[Rhpd],,[208540],[294415],[Renal-hepatic-pancreatic dysplasia],[17356],,,,, +GARD:18432,Active,Orphanet+OMIM,OMIM:615415,Subtype of disorder,[Malformation syndrome subtype],Renal-hepatic-pancreatic dysplasia 2,,"RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by {4:Grampa et al., 2016}).\n\nFor a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 ({208540}).",[615415],[294415],[Renal-hepatic-pancreatic dysplasia],[17356],,,,, +GARD:18433,Active,Orphanet+OMIM,OMIM:300942,Subtype of disorder,[Disease subtype],Chromosome xq26.3 duplication syndrome,,"X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; {139250}) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds ({1:Beckers et al., 2015}).",[300942],[300373],[X-linked acrogigantism],[17370],,,,, +GARD:18434,Active,Orphanet+OMIM,OMIM:143880,Subtype of disorder,[Disease subtype],"Hypercalcemia, infantile, 1","[Hypercalcemia, idiopathic, of infancy]","Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by {8:Schlingmann et al., 2011}).\n\n<Subhead> Genetic Heterogeneity\n\nInfantile hypercalcemia-2 (HCINF2; {616963}) is caused by mutation in the SLC34A1 gene ({182309}) on chromosome 5q35.",[143880],[300547],[Autosomal recessive infantile hypercalcemia],[17374],,,,, +GARD:18435,Active,Orphanet+OMIM,OMIM:616963,Subtype of disorder,[Disease subtype],"Hypercalcemia, infantile, 2",,"Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by {2:Schlingmann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 ({143880}).",[616963],[300547],[Autosomal recessive infantile hypercalcemia],[17374],,,,, +GARD:18436,Active,Orphanet+OMIM,OMIM:604185,Subtype of disorder,[Morphological anomaly subtype],"Facial paresis, hereditary congenital, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis (HCFP), see {601471}.",[604185],[306530],[Congenital hereditary facial paralysis-variable hearing loss syndrome],[17379],,,,, +GARD:18437,Active,Orphanet+OMIM,OMIM:614744,Subtype of disorder,[Morphological anomaly subtype],"Facial paresis, hereditary congenital, 3",,"HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by {4:Vogel et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.",[614744],[306530],[Congenital hereditary facial paralysis-variable hearing loss syndrome],[17379],,,,, +GARD:18438,Active,Orphanet+OMIM,OMIM:614231,Subtype of disorder,[Disease subtype],"Microcephaly, epilepsy, and diabetes syndrome 1",[Meds],"Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by {3:Poulton et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly, Epilepsy, and Diabetes Syndrome\n\nMEDS2 ({619278}) is caused by mutation in the YIPF5 gene ({611483}) on chromosome 5q31.",[614231],[306558],[Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome],[17381],,,,, +GARD:18439,Active,Orphanet+OMIM,OMIM:619278,Subtype of disorder,[Disease subtype],"Microcephaly, epilepsy, and diabetes syndrome 2",,"MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes ({1:De Franco et al., 2020}).\n\nFor a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 ({614231}).",[619278],[306558],[Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome],[17381],,,,, +GARD:18440,Active,Orphanet+OMIM,OMIM:615551,Subtype of disorder,[Disease subtype],"Episodic pain syndrome, familial, 2",,"Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by {1:Faber et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial episodic pain syndrome, see {615040}.",[615551],[306577],[Sodium channelopathy-related small fiber neuropathy],[17382],,,,, +GARD:18441,Active,Orphanet+OMIM,OMIM:612199,Subtype of disorder,[Disease subtype],Cerebroretinal microangiopathy with calcifications and cysts 1,"[Crmcc, coats plus syndrome]","Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by {1:Anderson et al., 2012} and {8:Polvi et al., 2012}).\n\nLeukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome ({614561}), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic ({1:Anderson et al., 2012}; {8:Polvi et al., 2012}).\n\nSome features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., {127550}), which is a clinically and genetically heterogeneous telomere-related genetic disorder.\n\n<Subhead> Genetic Heterogeneity of Cerebroretinal Microangiopathy With Calcifications And Cysts\n\nSee also CRMCC2 ({617341}), caused by mutation in the STN1 gene ({613128}) on chromosome 10q24.",[612199],[313838],[Coats plus syndrome],[17412],,,,, +GARD:18442,Active,Orphanet+OMIM,OMIM:617341,Subtype of disorder,[Disease subtype],Cerebroretinal microangiopathy with calcifications and cysts 2,,"CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by {1:Simon et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CRMCC, see CRMCC1 ({612199}).",[617341],[313838],[Coats plus syndrome],[17412],,,,, +GARD:18443,Active,Orphanet+OMIM,OMIM:614881,Subtype of disorder,[Disease subtype],"Spinal muscular atrophy, distal, autosomal recessive, 5",,"DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by {1:Blumen et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 ({182960}).",[614881],[314485],[Young adult-onset distal hereditary motor neuropathy],[17421],,,,, +GARD:18444,Active,Orphanet+OMIM,OMIM:619216,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor, with myopathic features",,"Hereditary motor neuropathy with myopathic features (HMNMYO) is an autosomal recessive disorder with both myopathic and neurogenic features. Affected individuals usually present in the first decade with lower leg weakness resulting in difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy (see, e.g., {182960}), but is distinguished by the presence of myopathic features (summary by {1:Deschauer et al., 2021} and {2:Pagnamenta et al., 2021}).",[619216],[314485],[Young adult-onset distal hereditary motor neuropathy],[17421],,,,, +GARD:18445,Active,Orphanet+OMIM,OMIM:300854,Subtype of disorder,[Disease subtype],"Renal cell carcinoma, xp11-associated",,"Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 ({606236}) on chromosome 17q25 and PRCC ({179755}) on 1q21, and more rarely, NONO ({300084}) on Xq13, SFPQ ({605199}) on 1p34, CLTC ({118955}) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by {6:Ross and Argani, 2010}).\n\nFor a discussion of genetic heterogeneity of renal cell carcinoma, see RCC ({144700}).",[300854],[319308],[MiT family translocation renal cell carcinoma],[17446],,,,, +GARD:18446,Active,Orphanet+OMIM,OMIM:617591,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 3,,"Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by {1:Brehm et al., 2015}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[617591],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18447,Active,Orphanet+OMIM,OMIM:618048,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 2,,"Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by {4:Poli et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[618048],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18448,Active,Orphanet+OMIM,OMIM:619175,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 5,,,[619175],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18449,Active,Orphanet+OMIM,OMIM:619183,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 4,,"Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see {147795}) inhibitor ruxolitinib may result in clinical improvement (summary by {1:de Jesus et al., 2019}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[619183],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18450,Active,Orphanet+OMIM,OMIM:616479,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2","[Progressive external ophthalmoplegia, autosomal recessive 2]","Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by {1:Reyes et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 ({258450}).",[616479],[329336],[Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy],[17503],,,,, +GARD:18451,Active,Orphanet+OMIM,OMIM:610542,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 12","[Myasthenic syndrome, congenital, with tubular aggregates 1]","Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {9:Senderek et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[610542],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18452,Active,Orphanet+OMIM,OMIM:614750,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 13","[Myasthenic syndrome, congenital, with tubular aggregates 2]","Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {1:Belaya et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[614750],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18453,Active,Orphanet+OMIM,OMIM:616227,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 15","[Myasthenic syndrome, congenital, without tubular aggregates]","Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616227],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18454,Active,Orphanet+OMIM,OMIM:616228,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 14","[Myasthenic syndrome, congenital, with tubular aggregates 3]","Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616228],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18455,Active,Orphanet+OMIM,OMIM:613151,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3","[Muscular dystrophy, congenital, pomgnt1-related]","MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities ({1:Clement et al., 2008}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({2:Mercuri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155}).",[613151],[370959],[Congenital muscular dystrophy with cerebellar involvement],[17605],,,,, +GARD:18456,Active,Orphanet+OMIM,OMIM:613152,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4","[Muscular dystrophy, congenital, fktn-related]","MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, impaired intellectual development is not a feature of MDDGB4 ({1:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155}).",[613152],[370980],[Congenital muscular dystrophy without intellectual disability],[17607],,,,, +GARD:18457,Active,Orphanet+OMIM,OMIM:615419,Subtype of disorder,[Disease subtype],"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1",[Ihprf],"Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by {1:Al-Sayed et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies\n\nSee also IHPRF2 ({616801}), caused by mutation in the UNC80 gene ({612636}) on chromosome 2q34; and IHPRF3 ({616900}), caused by mutation in the TBCK gene ({616899}) on chromosome 4q24.",[615419],[371364],[Hypotonia-speech impairment-severe cognitive delay syndrome],[17609],,,,, +GARD:18458,Active,Orphanet+OMIM,OMIM:616801,Subtype of disorder,[Disease subtype],"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2",,"Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by {2:Shamseldin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 ({615419}).",[616801],[371364],[Hypotonia-speech impairment-severe cognitive delay syndrome],[17609],,,,, +GARD:18459,Active,Orphanet+OMIM,OMIM:616033,Subtype of disorder,[Disease subtype],"Microcephaly, short stature, and impaired glucose metabolism 1",[Mssgm],,[616033],[391408],[Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome],[17620],,,,, +GARD:1846,Legacy,GARD,,,,,,,,,,,,Diaphragmatic hernia exomphalos corpus callosum agenesis,TRUE,FALSE,Active +GARD:18460,Active,Orphanet+OMIM,OMIM:616817,Subtype of disorder,[Disease subtype],"Microcephaly, short stature, and impaired glucose metabolism 2",,,[616817],[391408],[Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome],[17620],,,,, +GARD:18461,Active,Orphanet+OMIM,OMIM:615528,Subtype of disorder,[Disease subtype],"Parkinson disease 19a, juvenile-onset","[Park19, formerly]","Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[615528],[391411],[Atypical juvenile parkinsonism],[17621],,,,, +GARD:18462,Active,Orphanet+OMIM,OMIM:615530,Subtype of disorder,[Disease subtype],"Parkinson disease 20, early-onset",,"Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[615530],[391411],[Atypical juvenile parkinsonism],[17621],,,,, +GARD:18463,Active,Orphanet+OMIM,OMIM:616489,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 3,"[Growth restriction, severe, with distinctive facies]","Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay ({2:Begemann et al., 2015}; {7:Yamoto et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[616489],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18464,Active,Orphanet+OMIM,OMIM:618907,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 4,,"Silver-Russell syndrome-4 (SRS4) is characterized by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed ({1:Abi Habib et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[618907],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18465,Active,Orphanet+OMIM,OMIM:618908,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 5,,"Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead ({3:De Crescenzo et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[618908],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18466,Active,Orphanet+OMIM,OMIM:615595,Subtype of disorder,[Disease subtype],Combined oxidative phosphorylation deficiency 19,,,[615595],[397593],[Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency],[17629],,,,, +GARD:18467,Active,Orphanet+OMIM,OMIM:616546,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 14 with polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[616546],[397715],[Joubert syndrome with Jeune asphyxiating thoracic dystrophy],[17637],,,,, +GARD:18468,Active,Orphanet+OMIM,OMIM:615592,Subtype of disorder,[Disease subtype],Immunodeficiency 15b,,"Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by {3:Pannicke et al., 2013}).",[615592],[397787],[Severe combined immunodeficiency due to IKK2 deficiency],[17641],,,,, +GARD:18469,Active,Orphanet+OMIM,OMIM:618204,Subtype of disorder,[Disease subtype],Immunodeficiency 15a,,"Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect.",[618204],[397787],[Severe combined immunodeficiency due to IKK2 deficiency],[17641],,,,, +GARD:1847,Legacy,GARD,,,,,,,,,,,,Diaphragmatic hernia upper limb defects,TRUE,FALSE,Active +GARD:18470,Active,Orphanet+OMIM,OMIM:109730,Subtype of disorder,[Morphological anomaly subtype],Aortic valve disease 1,"[aortic valve, bicuspid, aortic stenosis, calcific, Aortic valve disease, bicuspid aortic valve, aortic valve, calcification of]","Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets ({4:Cripe et al., 2004}). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome ({241550}) ({6:Garg et al., 2005}). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees.\n\n<Subhead> Genetic Heterogeneity of Aortic Valve Disease\n\nAlso see AOVD2 ({614823}), caused by mutation in the SMAD6 gene ({602931}) on chromosome 15q22, and AOVD3 ({618496}), caused by mutation in the ROBO4 gene ({607528}) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING).",[109730],[402075],[Familial bicuspid aortic valve],[17670],,,,, +GARD:18471,Active,Orphanet+OMIM,OMIM:614823,Subtype of disorder,[Morphological anomaly subtype],Aortic valve disease 2,"[aortic valve stenosis, Bicuspid aortic valve]","Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta ({3:Tan et al., 2012}; {1:Luyckx et al., 2019}; {2:Park et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 ({109730}).",[614823],[402075],[Familial bicuspid aortic valve],[17670],,,,, +GARD:18472,Active,Orphanet+OMIM,OMIM:155600,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 1","[melanoma, malignant, melanoma, familial, Melanoma, cutaneous malignant, b-k mole syndrome, dysplastic nevus syndrome, hereditary, familial atypical mole-malignant melanoma syndrome]","Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {57:Habif, 2010}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma\n\nThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 ({155601}), caused by variation in the CDKN2A gene ({600160}) on chromosome 9p21; CMM3 ({609048}), caused by variation in the CDK4 gene ({123829}) on chromosome 12q14; CMM4 ({608035}), mapped to chromosome 1p22; CMM5 ({613099}), caused by variation in the MC1R gene ({155555}) on chromosome 16q24; CMM6 ({613972}), caused by variation in the XRCC3 gene ({600675}) on chromosome 14q32; CMM7 ({612263}), mapped to chromosome 20q11; CMM8 ({614456}), caused by variation in the MITF gene ({156845}) on chromosome 3p13; CMM9 ({615134}), caused by variation in the TERT gene ({187270}) on chromosome 5p15; and CMM10 ({615848}), caused by mutation in the POT1 gene ({606478}) on chromosome 7q31.\n\nSomatic mutations causing malignant melanoma have also been identified in several genes, including BRAF ({164757}), STK11 ({602216}), PTEN ({601728}), TRRAP ({603015}), DCC ({120470}), GRIN2A ({138253}), ZNF831, BAP1 ({603089}), and RASA2 ({601589}). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) ({34:Davies et al., 2002}; {93:Pollock et al., 2003}).",[155600],"[404560, 618]","[Familial melanoma, Familial atypical multiple mole melanoma syndrome]","[3460, 9281]",,,,, +GARD:18473,Active,Orphanet+OMIM,OMIM:606719,Subtype of disorder,[Disease subtype],Melanoma-pancreatic cancer syndrome,[Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome],"Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by {3:Harinck et al., 2012}).\n\nFor background and phenotypic information on malignant melanoma and pancreatic cancer, see {155600} and {260350}, respectively.",[606719],[404560],[Familial atypical multiple mole melanoma syndrome],[9281],,,,, +GARD:18474,Active,Orphanet+OMIM,OMIM:168601,Subtype of disorder,[Disease subtype],"Parkinson disease 1, autosomal dominant","[Parkinson disease 1, autosomal dominant lewy body]","Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; {104300}), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({18:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[168601],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18475,Active,Orphanet+OMIM,OMIM:605543,Subtype of disorder,[Disease subtype],"Parkinson disease 4, autosomal dominant","[Parkinson disease 4, autosomal dominant lewy body]",,[605543],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18476,Active,Orphanet+OMIM,OMIM:607060,Subtype of disorder,[Disease subtype],"Parkinson disease 8, autosomal dominant",,,[607060],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18477,Active,Orphanet+OMIM,OMIM:607688,Subtype of disorder,[Disease subtype],"Parkinson disease 11, autosomal dominant, susceptibility to",,,[607688],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18478,Active,Orphanet+OMIM,OMIM:614203,Subtype of disorder,[Disease subtype],Parkinson disease 17,,"Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[614203],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18479,Active,Orphanet+OMIM,OMIM:614251,Subtype of disorder,[Disease subtype],"Parkinson disease 18, autosomal dominant, susceptibility to",,"Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[614251],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18480,Active,Orphanet+OMIM,OMIM:616361,Subtype of disorder,[Disease subtype],Parkinson disease 21,,"Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[616361],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18481,Active,Orphanet+OMIM,OMIM:251270,Subtype of disorder,[Malformation syndrome subtype],"Microcephaly and chorioretinopathy, autosomal recessive, 1",,"Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by {5:Martin et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly and Chorioretinopathy\n\nSee also MCCRP2 ({616171}), caused by mutation in the PLK4 gene ({605031}) on chromosome 4q27, and MCCRP3 ({616335}), caused by mutation in the TUBGCP4 gene ({609610}) on chromosome 15q15.\n\nAn autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is caused by heterozygous mutation in the KIF11 gene ({148760}) on chromosome 10q23.\n\nSee also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.",[251270],[2518],[Autosomal recessive chorioretinopathy-microcephaly syndrome],[16603],,,,, +GARD:18482,Active,Orphanet+OMIM,OMIM:616335,Subtype of disorder,[Malformation syndrome subtype],"Microcephaly and chorioretinopathy, autosomal recessive, 3",,,[616335],[2518],[Autosomal recessive chorioretinopathy-microcephaly syndrome],[16603],,,,, +GARD:18483,Active,Orphanet+OMIM,OMIM:616541,Subtype of disorder,[Malformation syndrome subtype],"Short stature, microcephaly, and endocrine dysfunction",,"In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients ({4:Murray et al., 2015}; {1:Bee et al., 2015}; {2:de Bruin et al., 2015}; {3:Guo et al., 2015}).",[616541],[436182],[Microcephalic primordial dwarfism-insulin resistance syndrome],[17728],,,,, +GARD:18484,Active,Orphanet+OMIM,OMIM:617253,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 10,,,[617253],[436182],[Microcephalic primordial dwarfism-insulin resistance syndrome],[17728],,,,, +GARD:18485,Active,Orphanet+OMIM,OMIM:612591,Subtype of disorder,[Clinical subtype],"Colorectal cancer, susceptibility to, 10","[Colorectal cancer, susceptibility to, on chromosome 19q]",,[612591],[447877],[Polymerase proofreading-related adenomatous polyposis],[17772],,,,, +GARD:18486,Active,Orphanet+OMIM,OMIM:615083,Subtype of disorder,[Clinical subtype],"Colorectal cancer, susceptibility to, 12","[Colorectal cancer, susceptibility to, on chromosome 12q24]","Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable ({3:Palles et al., 2013}) or show microsatellite instability (MSI) ({2:Elsayed et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}.",[615083],[447877],[Polymerase proofreading-related adenomatous polyposis],[17772],,,,, +GARD:18487,Active,Orphanet+OMIM,OMIM:613000,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, nonepidermolytic, focal 1","[keratoderma, focal nonepidermolytic palmoplantar, Ppkfne, focal nonepidermolytic palmoplantar keratoderma]","Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by {1:Kelsell et al., 1995}).",[613000],[448264],[Isolated focal non-epidermolytic palmoplantar keratoderma],[17781],,,,, +GARD:18488,Active,Orphanet+OMIM,OMIM:616400,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, nonepidermolytic, focal 2",,,[616400],[448264],[Isolated focal non-epidermolytic palmoplantar keratoderma],[17781],,,,, +GARD:18489,Active,Orphanet+OMIM,OMIM:617035,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 2,,"The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by {3:Mani et al., 2005}). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by {2:Khetyar et al., 2008}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411}).",[617035],[466729],[Familial patent arterial duct],[17828],,,,, +GARD:18490,Active,Orphanet+OMIM,OMIM:617039,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 3,,"The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by {1:Hajj and Dagle, 2012}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411}).",[617039],[466729],[Familial patent arterial duct],[17828],,,,, +GARD:18491,Active,Orphanet+OMIM,OMIM:616913,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 20",,,[616913],[466806],[Autosomal dominant thrombocytopenia with platelet secretion defect],[17835],,,,, +GARD:18492,Active,Orphanet+OMIM,OMIM:619130,Subtype of disorder,[Disease subtype],Thrombocytopenia 7,"[Thrombocytopenia, autosomal dominant, 7]","Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by {2:Lentaigne et al., 2019} and {1:Leinoe et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[619130],[466806],[Autosomal dominant thrombocytopenia with platelet secretion defect],[17835],,,,, +GARD:18493,Active,Orphanet+OMIM,OMIM:610448,Subtype of disorder,[Disease subtype],Chilblain lupus 1,,"Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by {5:Lee-Kirsch et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Chilblain Lupus\n\nSee also CHBL2 ({614415}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11.\n\nMutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).",[610448],[481662],[Familial Chilblain lupus],[17874],,,,, +GARD:18494,Active,Orphanet+OMIM,OMIM:614415,Subtype of disorder,[Disease subtype],Chilblain lupus 2,,"Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by {1:Ravenscroft et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 ({610448}).",[614415],[481662],[Familial Chilblain lupus],[17874],,,,, +GARD:18495,Active,Orphanet+OMIM,OMIM:616867,Subtype of disorder,[Disease subtype],Spinal muscular atrophy with congenital bone fractures 2,,"Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {3:Knierim et al., 2016}).\n\nFor a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 ({616866}).",[616867],[486811],[Prenatal-onset spinal muscular atrophy with congenital bone fractures],[17882],,,,, +GARD:18496,Active,Orphanet+OMIM,OMIM:616780,Subtype of disorder,[Disease subtype],Oocyte maturation defect 2,,,[616780],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18497,Active,Orphanet+OMIM,OMIM:617743,Subtype of disorder,[Disease subtype],Oocyte maturation defect 4,,"Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest ({1:Chen et al., 2017}).",[617743],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18498,Active,Orphanet+OMIM,OMIM:619009,Subtype of disorder,[Disease subtype],Oocyte maturation defect 8,,"Oocyte maturation defect-8 (OOMD8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage ({1:Zheng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619009],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18499,Active,Orphanet+OMIM,OMIM:619011,Subtype of disorder,[Disease subtype],Oocyte maturation defect 9,,"Oocyte maturation defect-9 (OOMD9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed ({1:Zhang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619011],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:185,Legacy,GARD,,,,,,,,,,,,Y chromosome infertility,TRUE,FALSE,Active +GARD:1850,Active,Orphanet,ORPHA:37042,Disorder,[Disease],Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,"[Autoimmune enteropathy type 1, IPEX]","A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.",[304790],,,,,"Immunodysregulation, polyendocrinopathy and enteropathy X-linked",TRUE,FALSE,Active +GARD:18500,Active,Orphanet+OMIM,OMIM:619176,Subtype of disorder,[Disease subtype],Oocyte maturation defect 10,,"Oocyte maturation defect-10 (OOMD10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619176],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18501,Active,Orphanet+OMIM,OMIM:616973,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, autosomal dominant 42","[Mental retardation, autosomal dominant 42]","Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by {4:Petrovski et al., 2016}).",[616973],[488613],[Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome],[17893],,,,, +GARD:18502,Active,Orphanet+OMIM,OMIM:616917,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy","[intellectual developmental disorder, autosomal recessive 53, formerly, Glycosylphosphatidylinositol biosynthesis defect 13, mental retardation, autosomal recessive 53, formerly]","Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see {619812}) (summary by {4:Makrythanasis et al., 2016}; {2:Duval et al., 2021}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616917],[488635],[Early-onset epilepsy-intellectual disability-brain anomalies syndrome],[17897],,,,, +GARD:18503,Active,Orphanet+OMIM,OMIM:400042,Subtype of disorder,[Malformation syndrome subtype],"Spermatogenic failure, y-linked, 1",,"In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({13:Sargent et al., 1999}).\n\nAnother, possibly X-linked, form of Sertoli cell-only syndrome has also been reported ({305700}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nSee {415000} for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[400042],[1646],[Partial chromosome Y deletion],[16574],,,,, +GARD:18504,Active,Orphanet+OMIM,OMIM:415000,Subtype of disorder,[Malformation syndrome subtype],"Spermatogenic failure, y-linked, 2","[Spermatogenic failure, nonobstructive, y-linked, spermatogenic arrest, y-linked, azoospermia, nonobstructive, y-linked, oligozoospermia, nonobstructive, y-linked, oligospermia, nonobstructive, y-linked]","About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia ({20:Hull et al., 1985}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nFor a discussion of Y-linked spermatogenic failure due to Sertoli cell-only syndrome, see {400042}.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[415000],[1646],[Partial chromosome Y deletion],[16574],,,,, +GARD:18505,Active,Orphanet+OMIM,OMIM:252270,Subtype of disorder,[Disease subtype],Monosomy 7 myelodysplasia and leukemia syndrome 1,"[monosomy 7 of bone marrow, Mlsm7, chromosome 7q deletion]","Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {18:Wong et al., 2018}).\n\nMonosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by {16:Shannon et al., 1989}).\n\n<Subhead> Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome\n\nSee also M7MLS2 ({619041}), caused by germline mutation in the SAMD9 gene ({610457}) on chromosome 7q21.",[252270],[495930],[Familial monosomy 7 syndrome],[3765],,,,, +GARD:18506,Active,Orphanet+OMIM,OMIM:619041,Subtype of disorder,[Disease subtype],Monosomy 7 myelodysplasia and leukemia syndrome 2,,"Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {3:Wong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see {252270}.",[619041],[495930],[Familial monosomy 7 syndrome],[3765],,,,, +GARD:18507,Active,Orphanet+OMIM,OMIM:618097,Subtype of disorder,[Disease subtype],"Microcephaly, growth restriction, and increased sister chromatid exchange 2",,"MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; {210900}), but patients with mutations in the TOP3A gene do not have a malar rash (summary by {1:Martin et al., 2018}).\n\nFor a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})",[618097],[508512],[Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome],[17949],,,,, +GARD:18508,Active,Orphanet+OMIM,OMIM:617660,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 1","[3-hydroxyanthranilic acidemia, Congenital nad deficiency disorder 1]","VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome\n\nVCRL2 ({617661}) is caused by mutation in the KYNU gene ({605197}) on chromosome 2q22. VCRL3 ({618845}) is caused by mutation in the NADSYN1 gene ({608285}) on chromosome 11q13.",[617660],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:18509,Active,Orphanet+OMIM,OMIM:617661,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 2","[Congenital nad deficiency disorder 2, kynureninase deficiency, complete]","VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660}).",[617661],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:1851,Active,Orphanet,ORPHA:1671,Subtype of disorder,[Clinical subtype],Split cord malformation type I,"[SCM type 1, SCM type I, Split cord malformation type 1]","A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.",[222500],,,,,Split spinal cord malformation,TRUE,FALSE,Active +GARD:18510,Active,Orphanet+OMIM,OMIM:618845,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 3",[Congenital nad deficiency disorder 3],"Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia ({1:Szot et al., 2020}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660}).",[618845],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:18511,Active,Orphanet+OMIM,OMIM:301029,Subtype of disorder,[Disease subtype],Shukla-vernon syndrome,,"Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by {2:Shukla et al., 2019}).",[301029],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18512,Active,Orphanet+OMIM,OMIM:606053,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with autism and speech delay,"[autism-related speech delay, Phrase speech delay, autism-related, autism, susceptibility to, 5, formerly]","IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits ({3:Deriziotis et al., 2014}; {2:den Hoed et al., 2018}).",[606053],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18513,Active,Orphanet+OMIM,OMIM:617755,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,,"NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by {3:Stankiewicz et al., 2017}).",[617755],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18514,Active,Orphanet+OMIM,OMIM:618009,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 61","[Mental retardation, autosomal dominant 61]","Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth ({1:Snijders Blok et al., 2018}).",[618009],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18515,Active,Orphanet+OMIM,OMIM:618292,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",,,[618292],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18516,Active,Orphanet+OMIM,OMIM:618342,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",,,[618342],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18517,Active,Orphanet+OMIM,OMIM:618430,Subtype of disorder,[Disease subtype],Developmental delay with variable intellectual impairment and behavioral abnormalities,,"Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by {5:Vetrini et al., 2019} and {4:Torti et al., 2019}).",[618430],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18518,Active,Orphanet+OMIM,OMIM:618470,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with severe speech and ambulation defects,,"Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by {1:Bell et al., 2019}).",[618470],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18519,Active,Orphanet+OMIM,OMIM:618569,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",,,[618569],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18520,Active,Orphanet+OMIM,OMIM:618653,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with impaired language and dysmorphic facies,,"Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by {1:Balak et al., 2019}).",[618653],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18521,Active,Orphanet+OMIM,OMIM:618659,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,,"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by {1:Carapito et al., 2019}).",[618659],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18522,Active,Orphanet+OMIM,OMIM:618906,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with autistic features and language delay, with or without seizures",,"Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by {3:Guo et al., 2019}).",[618906],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18523,Active,Orphanet+OMIM,OMIM:618914,Subtype of disorder,[Disease subtype],"Neurodevelopmental, jaw, eye, and digital syndrome",,"Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen ({1:Holt et al., 2019}).",[618914],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18524,Active,Orphanet+OMIM,OMIM:618922,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",,"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by {2:Marafi et al., 2020}).",[618922],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18525,Active,Orphanet+OMIM,OMIM:618971,Subtype of disorder,[Disease subtype],Tolchin-le caignec syndrome,[Intellectual developmental disorder with behavioral abnormalities and variable bone defects],"Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by {1:Tolchin et al., 2020}).",[618971],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18526,Active,Orphanet+OMIM,OMIM:618974,Subtype of disorder,[Disease subtype],Li-ghorbani-weisz-hubshman syndrome,,"Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by {1:Li et al., 2020}).",[618974],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18527,Active,Orphanet+OMIM,OMIM:619000,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with seizures and language delay,,"Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by {6:Roston et al., 2021}).",[619000],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18528,Active,Orphanet+OMIM,OMIM:619005,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",,"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by {3:Schneeberger et al., 2020}).",[619005],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18529,Active,Orphanet+OMIM,OMIM:619031,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies",,"IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes ({1:Kvarnung et al., 2018}).",[619031],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:1853,Legacy,GARD,,,,,,,,,,,,Dibasic aminoaciduria 2,TRUE,FALSE,Active +GARD:18530,Active,Orphanet+OMIM,OMIM:619056,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with speech impairment and dysmorphic facies,,"Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by {3:Kummeling et al., 2021}).",[619056],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18531,Active,Orphanet+OMIM,OMIM:619072,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with seizures and brain atrophy,,"Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by {1:Coulter et al., 2020}).",[619072],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18532,Active,Orphanet+OMIM,OMIM:619076,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",,"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures ({1:Coulter et al., 2020}).",[619076],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18533,Active,Orphanet+OMIM,OMIM:619083,Subtype of disorder,[Disease subtype],Delpire-mcneill syndrome,,"Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by {1:McNeill et al., 2020}).",[619083],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18534,Active,Orphanet+OMIM,OMIM:619091,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",,"Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020}).",[619091],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18535,Active,Orphanet+OMIM,OMIM:619092,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",,"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020}).",[619092],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18536,Active,Orphanet+OMIM,OMIM:619099,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with speech delay and axonal peripheral neuropathy,,"Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by {3:Martin et al., 2020} and {1:Ahmed et al., 2021})",[619099],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18537,Active,Orphanet+OMIM,OMIM:619125,Subtype of disorder,[Disease subtype],Kaya-barakat-masson syndrome,,"Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development with variable motor abnormalities, such as axial hypotonia, peripheral spasticity, dystonia, and poor coordination, resulting in the inability to sit or walk. Affected individuals have impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Dysmorphic features are generally not present. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood (summary by {1:AlMuhaizea et al., 2020} and {2:Diaz et al., 2020}).",[619125],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18538,Active,Orphanet+OMIM,OMIM:619149,Subtype of disorder,[Disease subtype],Lessel-kreienkamp syndrome,,"Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features may also be present (summary by {1:Lessel et al., 2020}).",[619149],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18539,Active,Orphanet+OMIM,OMIM:619157,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with or without early-onset generalized epilepsy,,"Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by {3:Mulhern et al., 2018}).",[619157],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:1854,Legacy,GARD,,,,,,,,,,,,Dibasic aminoaciduria 1,TRUE,FALSE,Active +GARD:18540,Active,Orphanet+OMIM,OMIM:619239,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with or without autism or seizures,,"Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures. Others have autistic features or behavioral abnormalities. Additional variable systemic features may also be present, such as cardiac defects, failure to thrive, or brain imaging anomalies (summary by {5:Nakashima et al., 2020}).",[619239],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18541,Active,Orphanet+OMIM,OMIM:619243,Subtype of disorder,[Disease subtype],Global developmental delay with speech and behavioral abnormalities,,"Global developmental delay with speech and behavioral abnormalities (GDSBA) is characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD. Some patients may have additional nonspecific features, such as facial dysmorphism, myopia or strabismus, and skeletal defects, including joint hypermobility, pes planus, or slender fingers (summary by {2:Granadillo et al., 2020}).",[619243],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18542,Active,Orphanet+OMIM,OMIM:619244,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism,,"Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by {2:Rasheed et al., 2021}).",[619244],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18543,Active,Orphanet+OMIM,OMIM:619264,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and variable seizures,,"Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by {1:Shao et al., 2021}).",[619264],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18544,Active,Orphanet+OMIM,OMIM:619268,Subtype of disorder,[Disease subtype],Alzahrani-kuwahara syndrome,[Neurodevelopmental disorder with dysmorphic facies and cataracts],"Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by {1:Alzahrani et al., 2020}).",[619268],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18545,Active,Orphanet+OMIM,OMIM:619306,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia,,"Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by {1:Van Bergen et al., 2020}).",[619306],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18546,Active,Orphanet+OMIM,OMIM:619314,Subtype of disorder,[Disease subtype],Buratti-harel syndrome,,"Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by {1:Buratti et al., 2021}).",[619314],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18547,Active,Orphanet+OMIM,OMIM:619320,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 65","[Mental retardation, autosomal dominant 65]","Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed ({1:Duncan et al., 2020}).",[619320],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18548,Active,Orphanet+OMIM,OMIM:616331,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 2",,"Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by {1:Bunn et al., 2015}). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 ({5:White et al., 2015}; {1:Bunn et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310}).",[616331],[3107],[Autosomal dominant Robinow syndrome],[16620],,,,, +GARD:18549,Active,Orphanet+OMIM,OMIM:616894,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 3",,"The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by {1:White et al., 2016}).\n\nFor a discussion of genetic heterogeneity in Robinow syndrome, see RRS ({268310}).",[616894],[3107],[Autosomal dominant Robinow syndrome],[16620],,,,, +GARD:1855,Active,Orphanet,ORPHA:2195,Disorder,[Disease],Dicarboxylic aminoaciduria,[Glutamate-aspartate transport defect],"Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.",[222730],,,,,Dicarboxylic aminoaciduria,TRUE,FALSE,Active +GARD:18550,Active,Orphanet+OMIM,OMIM:235400,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 1","[Ahus, susceptibility to, 1]","Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported ({18:Goodship et al., 1997}; {52:Taylor, 2001}; {55:Veyradier et al., 2003}; {37:Noris et al., 2003}). {38:Noris and Remuzzi (2009)} provided a detailed review of atypical HUS.\n\n<Subhead> Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome\n\nAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system ({24:Jozsi et al., 2008}). See AHUS2 ({612922}), AHUS3 ({612923}), AHUS4 ({612924}), AHUS5 ({612925}), and AHUS6 ({612926}). AHUS7 (see {615008}) is caused by mutation in the DGKE gene ({601440}), which is not part of the complement cascade system.",[235400],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18551,Active,Orphanet+OMIM,OMIM:609814,Subtype of disorder,[Etiological subtype],Complement factor h deficiency,"[cfh deficiency, factor h deficiency, C3 glomerulopathy 1]","Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 ({120700}) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by {4:Ault, 2000}, reviews by {17:Riedl et al., 2017} and {22:Wong and Kavanagh, 2018}).\n\n<Subhead> Nomenclature and Classification\n\nSeveral reviews ({10:Ito et al., 2017}, {17:Riedl et al., 2017}, {22:Wong and Kavanagh, 2018}) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. {21:Welch (2002)} also discussed the role of complement in renal disease.\n\nA subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by {1:Abrera-Abeleda et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of C3G\n\nC3G2 ({610984}) is caused by mutation in the CFI gene ({217030}) on chromosome 4q25, and C3G3 ({614809}) is caused by mutation in the CFHR5 gene ({608593}) on chromosome 1q31.",[609814],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18552,Active,Orphanet+OMIM,OMIM:612922,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 2","[Ahus, susceptibility to, 2]",,[612922],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18553,Active,Orphanet+OMIM,OMIM:612923,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 3","[Ahus, susceptibility to, 3]",,[612923],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18554,Active,Orphanet+OMIM,OMIM:612924,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 4","[Ahus, susceptibility to, 4]",,[612924],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18555,Active,Orphanet+OMIM,OMIM:612925,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 5","[Ahus, susceptibility to, 5]",,[612925],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18556,Active,Orphanet+OMIM,OMIM:612926,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 6","[Ahus, susceptibility to, 6]",,[612926],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18557,Active,Orphanet+OMIM,OMIM:615008,Subtype of disorder,[Etiological subtype],"Nephrotic syndrome, type 7","[Nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis]","Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by {2:Ozaltin et al., 2013}).\n\nAtypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by {1:Lemaire et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 ({235400}).",[615008],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18558,Active,Orphanet+OMIM,OMIM:190440,Subtype of disorder,[Morphological anomaly subtype],Trigonocephaly 1,"[Craniosynostosis, metopic]","Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by {1:Frydman et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Isolated Trigonocephaly\n\nAlso see trigonocephaly-2 (TRIGNO2; {614485}), caused by mutation in the FREM1 gene ({608944}) on chromosome 9p22.",[190440],[3366],[Non-syndromic metopic craniosynostosis],[16626],,,,, +GARD:18559,Active,Orphanet+OMIM,OMIM:614485,Subtype of disorder,[Morphological anomaly subtype],Trigonocephaly 2,"[Craniosynostosis, metopic]","Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by {2:Vissers et al., 2011}).\n\nFor a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 ({190440}).\n\nA syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).",[614485],[3366],[Non-syndromic metopic craniosynostosis],[16626],,,,, +GARD:18560,Active,Orphanet+OMIM,OMIM:619217,Subtype of disorder,[Malformation syndrome subtype],"Endove syndrome, limb-only type",,"Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed ({1:Allou et al., 2021}).",[619217],[611223],[EN1-related dorsoventral syndrome],[18027],,,,, +GARD:18561,Active,Orphanet+OMIM,OMIM:619218,Subtype of disorder,[Malformation syndrome subtype],"Endove syndrome, limb-brain type","[Mesomelia of lower extremities with hand, foot, and brain anomalies]","Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem ({1:Allou et al., 2021}).",[619218],[611223],[EN1-related dorsoventral syndrome],[18027],,,,, +GARD:18562,Active,Orphanet+OMIM,OMIM:619301,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 14",,"Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619301],[613274],[Pontocerebellar hypoplasia type 14],[18032],,,,, +GARD:18563,Active,Orphanet+OMIM,OMIM:619302,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 15",,"Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619302],[613274],[Pontocerebellar hypoplasia type 14],[18032],,,,, +GARD:18564,Active,Orphanet+OMIM,OMIM:616286,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 7,,"Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({2:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310}).",[616286],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18565,Active,Orphanet+OMIM,OMIM:616287,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 8,,"Lethal congenital contracture syndrome-8 (LCCS8), an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({3:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310}).",[616287],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18566,Active,Orphanet+OMIM,OMIM:617468,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect","[Arthrogryposis multiplex congenita, neurogenic, with myelin defect]","AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by {1:Xue et al., 2017}).\n\n<Genetic Heterogeneity of Arthrogryposis Multiplex Congenita\n\nAlso see AMC2 ({208100}), caused by mutation in the ERGIC1 gene ({617946}); AMC3 ({618484}), caused by mutation in the SYNE1 gene ({608441}); AMC4 ({618776}), caused by mutation in the SCYL2 gene ({616365}); AMC5 ({618947}), caused by mutation in the TOR1A gene ({605204}), and AMC6 ({619334}), caused by mutation in the NEB gene ({161650})",[617468],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18567,Active,Orphanet+OMIM,OMIM:618186,Subtype of disorder,[Malformation syndrome subtype],"Neuropathy, congenital hypomyelinating, 3",,"Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk. Sural nerve biopsy shows hypomyelination of the nerve fibers, and brain imaging often shows impaired myelination and cerebral and cerebellar atrophy. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination (summary by {5:Vallat et al., 2016} and {2:Low et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CHN, see CHN1 ({605253}).",[618186],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18568,Active,Orphanet+OMIM,OMIM:612336,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein s deficiency, autosomal dominant",,"Heterozygous protein S deficiency, like protein C deficiency ({176860}), is characterized by recurrent venous thrombosis. {2:Bertina (1990)} classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA ({120830}).\n\n{24:Zoller et al. (1995)} observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.\n\nSee also autosomal recessive thrombophilia due to protein S deficiency (THPH6; {614514}), which is a more severe disorder.",[612336],[743],[Severe hereditary thrombophilia due to congenital protein S deficiency],[16543],,,,, +GARD:18569,Active,Orphanet+OMIM,OMIM:614514,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein s deficiency, autosomal recessive",,"Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage ({7:Pung-amritt et al., 1999}; {3:Fischer et al., 2010}), whereas others have recurrent thromboses later in childhood ({2:Comp et al., 1984}).\n\nSee also autosomal dominant thrombophilia due to protein S deficiency (THPH5; {612336}), a less severe disorder caused by heterozygous mutation in the PROS1 gene.",[614514],[743],[Severe hereditary thrombophilia due to congenital protein S deficiency],[16543],,,,, +GARD:1857,Legacy,GARD,,,,,,,,,,,,Die Smulders Droog Van Dijk syndrome,TRUE,FALSE,Active +GARD:18570,Active,Orphanet+OMIM,OMIM:604377,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 2","[cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1]","Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see {256000}). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; {253300}). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by {4:Papadopoulou et al., 1999}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[604377],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18571,Active,Orphanet+OMIM,OMIM:615119,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 6","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2]","Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {4:Kennaway et al., 1990} and {5:Oquendo et al., 2004}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[615119],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18572,Active,Orphanet+OMIM,OMIM:616500,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 9","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3]","Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Huigsloot et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[616500],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18573,Active,Orphanet+OMIM,OMIM:616501,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 13","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4]","Mitochondrial complex IV deficiency nuclear type 13 (MC4DN13) is an autosomal recessive metabolic disorder characterized by the onset of hypertrophic cardiomyopathy soon after birth. Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Baertling et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[616501],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18574,Active,Orphanet+OMIM,OMIM:176860,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein c deficiency, autosomal dominant","[proc deficiency, autosomal dominant, Protein c deficiency, autosomal dominant]","Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic ({23:Millar et al., 2000}). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency ({4:Bertina et al., 1984}).\n\nAcquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. {8:Clouse and Comp (1986)} reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.",[176860],[745],[Severe hereditary thrombophilia due to congenital protein C deficiency],[16544],,,,, +GARD:18575,Active,Orphanet+OMIM,OMIM:155601,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 2",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {19:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 ({155600}).",[155601],[618],[Familial melanoma],[3460],,,,, +GARD:18576,Active,Orphanet+OMIM,OMIM:155700,Subtype of disorder,[Disease subtype],"Melanoma, malignant familial intraocular",,"{1:Bowen et al. (1964)} reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. {3:Davenport (1927)} reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, {4:Greene et al. (1983)} concluded that these associations may be coincidental.",[155700],[618],[Familial melanoma],[3460],,,,, +GARD:18577,Active,Orphanet+OMIM,OMIM:608035,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 4",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see {155600}.",[608035],[618],[Familial melanoma],[3460],,,,, +GARD:18578,Active,Orphanet+OMIM,OMIM:609048,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 3",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[609048],[618],[Familial melanoma],[3460],,,,, +GARD:18579,Active,Orphanet+OMIM,OMIM:613099,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 5",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {3:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[613099],[618],[Familial melanoma],[3460],,,,, +GARD:1858,Legacy,GARD,,,,,,,,,,,,Die Smulders Vles Fryns syndrome,TRUE,FALSE,Active +GARD:18580,Active,Orphanet+OMIM,OMIM:613972,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 6",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.",[613972],[618],[Familial melanoma],[3460],,,,, +GARD:18581,Active,Orphanet+OMIM,OMIM:615134,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 9",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[615134],[618],[Familial melanoma],[3460],,,,, +GARD:18582,Active,Orphanet+OMIM,OMIM:615848,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 10",,,[615848],[618],[Familial melanoma],[3460],,,,, +GARD:18583,Active,Orphanet+OMIM,OMIM:143870,Subtype of disorder,[Disease subtype],"Hypercalciuria, absorptive, 2","[Hypercalciuria, familial idiopathic]",,[143870],[2197],[Idiopathic hypercalciuria],[16587],,,,, +GARD:18584,Active,Orphanet+OMIM,OMIM:607258,Subtype of disorder,[Disease subtype],"Hypercalciuria, absorptive, 1",,"For a phenotypic description and a discussion of genetic heterogeneity of absorptive hypercalciuria, see {143870}.\n\n{2:Imamura et al. (1998)} reported the cases of 2 unrelated girls with multiple malformations, each of whom had an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a segment from another unidentified chromosome. One of the 2 girls had asymptomatic kidney stones. Both had excess urinary calcium excretion, exaggerated excretion on oral calcium load, and reduced but excessive excretion on restricted calcium intake. The urinary calcium excretion of their parents was normal. Both girls were thus diagnosed to have sporadic absorptive hypercalciuria. {2:Imamura et al. (1998)} suggested that the 4q33-qter segment contains the putative gene for absorptive hypercalciuria.\n\n{3:Townes et al. (1979)} recognized deletion of the terminal region of the long arm of chromosome 4 as a distinct syndrome. The syndrome comprises minor facial anomalies, cleft palate, limb and digital abnormalities (especially of the fifth finger), congenital heart defects, postnatal growth deficiency, and developmental delay. {1:Giuffre et al. (2004)} described a newborn girl with a de novo terminal 4q deletion (4q31.3-qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal growth deficiency. Excessive urinary calcium excretion on standard milk formula and on oral calcium load was found. At 2 months of age, ultrasound showed kidney calcifications. Clinical and laboratory data supported the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The findings supported the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of 4q.",[607258],[2197],[Idiopathic hypercalciuria],[16587],,,,, +GARD:18585,Active,Orphanet+OMIM,OMIM:615237,Subtype of disorder,[Morphological anomaly subtype],Congenital short bowel syndrome,,"Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by {8:van der Werf et al., 2012}).\n\nA possible form of congenital short bowel syndrome (see {300048}) is caused by mutation in the FLNA gene ({300017}) on chromosome Xq28.",[615237],[2301],[Congenital short bowel syndrome],[16592],,,,, +GARD:18586,Active,Orphanet+OMIM,OMIM:164750,Subtype of disorder,[Morphological anomaly subtype],"Omphalocele, autosomal",,"An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis ({230750}), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by {1:Bugge, 2010}). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, {13:Yang et al. (1992)} concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.\n\nOmphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome ({130650}) and the Shprintzen-Goldberg syndrome ({182210}).",[164750],[660],[Omphalocele],[16540],,,,, +GARD:18587,Active,Orphanet+OMIM,OMIM:310980,Subtype of disorder,[Morphological anomaly subtype],"Omphalocele, x-linked",,,[310980],[660],[Omphalocele],[16540],,,,, +GARD:18588,Active,Orphanet+OMIM,OMIM:617524,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 2,,"Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by {4:Richard et al., 2003}). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) ({5:van Steensel et al., 2009}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617524],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:18589,Active,Orphanet+OMIM,OMIM:617525,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 3,,"Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by {1:Boyden et al., 2015}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617525],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:1859,Active,Orphanet,ORPHA:1916,Disorder,[Malformation syndrome],Diethylstilbestrol syndrome,"[DES embryofetopathy, DES syndrome, Diethylstilbestrol embryofetopathy, Distilbene embryofetopathy]","A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.",,,,,,Diethylstilbestrol syndrome,TRUE,FALSE,Active +GARD:18590,Active,Orphanet+OMIM,OMIM:617526,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 4,,"Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by {1:Boyden et al., 2017}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617526],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:18591,Active,Orphanet+OMIM,OMIM:129490,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant","[Ectodermal dysplasia, hypohidrotic, autosomal dominant]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {2:Cluzeau et al., 2011}).",[129490],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18592,Active,Orphanet+OMIM,OMIM:614940,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant","[Ectodermal dysplasia, hypohidrotic, autosomal dominant]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011}).",[614940],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18593,Active,Orphanet+OMIM,OMIM:617337,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011}).",[617337],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18594,Active,Orphanet+OMIM,OMIM:181000,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 1","[boeck sarcoid, Sarcoidosis]",,[181000],[797],[Sarcoidosis],[7607],,,,, +GARD:18595,Active,Orphanet+OMIM,OMIM:612387,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 2",,,[612387],[797],[Sarcoidosis],[7607],,,,, +GARD:18596,Active,Orphanet+OMIM,OMIM:612388,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 3",,"For a general description and a discussion of genetic heterogeneity of sarcoidosis, see {181000}.",[612388],[797],[Sarcoidosis],[7607],,,,, +GARD:18597,Active,Orphanet+OMIM,OMIM:173900,Subtype of disorder,[Disease subtype],Polycystic kidney disease 1 with or without polycystic liver disease,"[potter type iii polycystic kidney disease, formerly, polycystic kidney disease, adult, type i, Polycystic kidney disease, adult]","PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by {114:Wu and Somlo, 2000}).\n\n<Subhead> Genetic Heterogeneity of Polycystic Kidney Disease\n\nAlso see polycystic kidney disease-2 (PKD2; {613095}), caused by mutation in the PKD2 gene ({173910}) on chromosome 4q22; PKD3 ({600666}), caused by mutation in the GANAB gene ({104160}) on chromosome 11q13; PKD4 ({263200}), caused by mutation in the PKHD1 gene ({606702}) on chromosome 6p12; PKD5 ({617610}), caused by mutation in the DZIP1L gene ({617570}) on chromosome 3q22; and PKD6 ({618061}), caused by mutation in the DNAJB11 gene ({611341}) on chromosome 3q27.",[173900],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18598,Active,Orphanet+OMIM,OMIM:600666,Subtype of disorder,[Disease subtype],Polycystic kidney disease 3 with or without polycystic liver disease,"[Polycystic kidney disease, adult, type iii]","Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by {2:Porath et al., 2016}).\n\nFor a discussion of genetic heterogeneity of PKD, see PKD1 ({173900}).",[600666],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18599,Active,Orphanet+OMIM,OMIM:613095,Subtype of disorder,[Disease subtype],Polycystic kidney disease 2 with or without polycystic liver disease,"[Polycystic kidney disease, adult, type ii]",,[613095],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18600,Active,Orphanet+OMIM,OMIM:614839,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 10 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614839],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,,,, +GARD:18601,Active,Orphanet+OMIM,OMIM:614842,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 13 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {1:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614842],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,,,, +GARD:18602,Active,Orphanet+OMIM,OMIM:125700,Subtype of disorder,[Clinical subtype],"Diabetes insipidus, neurohypophyseal","[diabetes insipidus, cranial type, Diabetes insipidus, primary central]","Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by {28:Wahlstrom et al., 2004}).",[125700],[30925],[Hereditary central diabetes insipidus],[16629],,,,, +GARD:18603,Active,Orphanet+OMIM,OMIM:304900,Subtype of disorder,[Clinical subtype],"Diabetes insipidus, neurohypophyseal, x-linked",,,[304900],[30925],[Hereditary central diabetes insipidus],[16629],,,,, +GARD:18604,Active,Orphanet+OMIM,OMIM:300557,Subtype of disorder,[Disease subtype],Parkinson disease 12,,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[300557],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18605,Active,Orphanet+OMIM,OMIM:605909,Subtype of disorder,[Disease subtype],"Parkinson disease 6, autosomal recessive early-onset","[Parkinson disease 6, early-onset]",,[605909],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18606,Active,Orphanet+OMIM,OMIM:606324,Subtype of disorder,[Disease subtype],"Parkinson disease 7, autosomal recessive early-onset",,,[606324],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18607,Active,Orphanet+OMIM,OMIM:606852,Subtype of disorder,[Disease subtype],Parkinson disease 10,,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[606852],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18608,Active,Orphanet+OMIM,OMIM:610297,Subtype of disorder,[Disease subtype],"Parkinson disease 13, autosomal dominant, susceptibility to",,,[610297],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18609,Active,Orphanet+OMIM,OMIM:613643,Subtype of disorder,[Disease subtype],"Parkinson disease 5, autosomal dominant, susceptibility to",,,[613643],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:1861,Active,Orphanet,ORPHA:2123,Disorder,[Malformation syndrome],Diffuse neonatal hemangiomatosis,,"Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.",,,,,,Diffuse neonatal hemangiomatosis,TRUE,FALSE,Active +GARD:18610,Active,Orphanet+OMIM,OMIM:616840,Subtype of disorder,[Disease subtype],"Parkinson disease 23, autosomal recessive early-onset",,"Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).",[616840],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18611,Active,Orphanet+OMIM,OMIM:108770,Subtype of disorder,[Disease subtype],Atrial standstill 1,"[Atrial cardiomyopathy with heart block, cardiomyopathy, familial, with conduction disturbance]","Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005}).",[108770],[1344],[Atrial standstill],[16564],,,,, +GARD:18612,Active,Orphanet+OMIM,OMIM:615745,Subtype of disorder,[Disease subtype],Atrial standstill 2,"[Atrial dilation and standstill, cardiomyopathy, atrial dilated, with atrial standstill]","Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005}).",[615745],[1344],[Atrial standstill],[16564],,,,, +GARD:18613,Active,Orphanet+OMIM,OMIM:602247,Subtype of disorder,[Disease subtype],"Xanthomatosis, susceptibility to",,"{1:Vergopoulos et al. (1997)} studied a consanguineous Syrian kindred containing 6 individuals homozygous for a cys646-to-arg mutation in the LDLR gene ({606945}) resulting in familial hypercholesterolemia ({143890}). Half of the homozygotes had giant xanthomas, while half did not, even though their LDL-cholesterol concentrations were elevated to similar degrees. Heterozygous FH individuals in this family were also clearly distinguishable with respect to xanthoma size. Segregation analysis suggested the existence in this family of a second gene that determined the development of giant xanthomas when present in combination with the cys646-to-arg mutation.",[602247],[391665],[Homozygous familial hypercholesterolemia],[10416],,,,, +GARD:18614,Active,Orphanet+OMIM,OMIM:603813,Subtype of disorder,[Disease subtype],"Hypercholesterolemia, familial, 4","[fhcb1, formerly, hypercholesterolemia, autosomal recessive, 2, formerly, hypercholesterolemia, autosomal recessive, 1, formerly, fhcb2, formerly, Hypercholesterolemia, autosomal recessive]","Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by {14:Sanchez-Hernandez et al., 2018}).",[603813],[391665],[Homozygous familial hypercholesterolemia],[10416],,,,, +GARD:18615,Active,Orphanet,ORPHA:300751,Disorder,[Disease],Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,,"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.",[115200],,,,,,,, +GARD:18616,Active,Orphanet+OMIM,OMIM:159900,Subtype of disorder,[Disease subtype],"Dystonia 11, myoclonic","[myoclonus, hereditary essential, Myoclonus-dystonia syndrome, myoclonic dystonia, dystonia, alcohol-responsive]","Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities ({42:Valente et al., 2003}; {38:Schule et al., 2004}).",[159900],[36899],[Myoclonus-dystonia syndrome],[7139],,,,, +GARD:18617,Active,Orphanet+OMIM,OMIM:300672,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 2,"[infantile spasm syndrome, x-linked 2, Epileptic encephalopathy, early infantile, 2]","Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome ({312750}), but DEE2 is considered to be a distinct entity (summary by {4:Fehr et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[300672],"[1934, 3095, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome, Atypical Rett syndrome]","[7887, 9255, 4694]",,,,, +GARD:18619,Active,Orphanet+OMIM,OMIM:606070,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 21,"[Multisystem proteinopathy 5, vocal cord and pharyngeal dysfunction with distal myopathy, formerly, myopathy, distal, 2, formerly]","Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by {2:Johnson et al., 2014}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[606070],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:1862,Active,Orphanet,ORPHA:2337,Disorder,[Disease],Non-epidermolytic palmoplantar keratoderma,"[Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type, Diffuse palmoplantar keratoderma, Bothnian type, NEPPK]","A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.",[600231],,,,,"Diffuse palmoplantar keratoderma, Bothnian type",TRUE,FALSE,Active +GARD:18620,Active,Orphanet+OMIM,OMIM:610489,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 1","[cushing syndrome, adrenal, due to ppnad1, adrenocortical nodular dysplasia, primary, Pigmented micronodular adrenocortical disease, primary, 1]","Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; {160980}), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation ({3:Groussin et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease\n\nSee also PPNAD2 ({610475}), caused by mutation in the PDE11A gene ({604961}) on chromosome 2q31; PPNAD3 ({614190}), caused by mutation in the PDE8B gene ({603390}) on chromosome 5q13; and PPNAD4 ({615830}), caused by a duplication on chromosome 19p13 that includes the PRKACA gene ({601639}).",[610489],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:18621,Active,Orphanet+OMIM,OMIM:615878,Subtype of disorder,[Clinical subtype],"Cholestasis, progressive familial intrahepatic, 4",,,[615878],[79304],[Progressive familial intrahepatic cholestasis type 2],[1288],,,,, +GARD:18622,Active,Orphanet+OMIM,OMIM:616266,Subtype of disorder,[Malformation syndrome subtype],"Congenital contractures of the limbs and face, hypotonia, and developmental delay",,"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by {1:Chong et al., 2015}).",[616266],"[2053, 1147]","[Freeman-Sheldon syndrome, Sheldon-Hall syndrome]","[16556, 6466]",,,,, +GARD:18623,Active,Orphanet+OMIM,OMIM:156200,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 1","[Mental retardation, autosomal dominant 1]",,[156200],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:18624,Active,Orphanet+OMIM,OMIM:614381,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","[cerebellar hypoplasia with endosteal sclerosis, 4h leukodystrophy 2]","Hypomyelinating leukodystrophy-8 (HLD8) is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by {9:Tetreault et al., 2011}).\n\nSee also HLD7 ({607694}), which has similar features and is caused by mutation in the POLR3A gene ({614258}) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[614381],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18625,Active,Orphanet+OMIM,OMIM:600165,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 1,,"Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by {3:Othman et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Nanophthalmos\n\nNanophthalmos-1 (NNO1) has been mapped to chromosome 11p. Nanophthalmos-2 (NNO2; {609549}) is caused by mutation in the MFRP gene ({606227}) on chromosome 11q23. Nanophthalmos-3 (NNO3; {611897}) has been mapped to chromosome 2q11-q14. Nanophthalmos-4 (NNO4; {615972}) is caused by mutation in the TMEM98 gene ({615949}) on chromosome 17q11.",[600165],[35612],[Nanophthalmos],[16637],,,,, +GARD:18626,Active,Orphanet+OMIM,OMIM:609549,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 2,"[Nanophthalmia 2, nanophthalmos, autosomal recessive]",,[609549],[35612],[Nanophthalmos],[16637],,,,, +GARD:18627,Active,Orphanet+OMIM,OMIM:611897,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165}).",[611897],[35612],[Nanophthalmos],[16637],,,,, +GARD:18628,Active,Orphanet+OMIM,OMIM:613517,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated 6","[Microphthalmia, posterior nonsyndromic]","Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by {5:Gal et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 ({251600}).",[613517],[35612],[Nanophthalmos],[16637],,,,, +GARD:18629,Active,Orphanet+OMIM,OMIM:615972,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 4,[Nanophthalmia 4],"Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by {1:Awadalla et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165}).",[615972],[35612],[Nanophthalmos],[16637],,,,, +GARD:1863,Legacy,GARD,,,,,,,,,,,,Gastric duplication cysts,TRUE,FALSE,Active +GARD:18630,Active,Orphanet+OMIM,OMIM:227300,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, 1","[fmfd i, Familial multiple coagulation factor deficiency i, multiple coagulation factor deficiency i]","Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {17:Zhang and Ginsburg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII\n\nAnother form of combined deficiency of factor V and factor VII (F5F8D2; {613625}) is caused by mutation in the MCFD2 gene ({607788}) on chromosome 2.",[227300],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18631,Active,Orphanet+OMIM,OMIM:227310,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor",,"{1:Rahim Adam et al. (1985)} reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C ({612283}) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater than 10% but less than 50% of normal.",[227310],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18632,Active,Orphanet+OMIM,OMIM:613625,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, 2",,"Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {3:Zhang and Ginsburg, 2004}).",[613625],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18633,Active,Orphanet+OMIM,OMIM:609620,Subtype of disorder,[Disease subtype],Short qt syndrome 1,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {7:Moreno et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Short QT Syndrome\n\nShort QT syndrome-2 (SQT2; {609621}) is caused by mutation in the KCNQ1 gene ({607542}). SQT3 ({609622}) is caused by mutation in the KCNJ2 gene ({600681}).",[609620],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18634,Active,Orphanet+OMIM,OMIM:609621,Subtype of disorder,[Disease subtype],Short qt syndrome 2,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {3:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620}).",[609621],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18635,Active,Orphanet+OMIM,OMIM:609622,Subtype of disorder,[Disease subtype],Short qt syndrome 3,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {1:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620}).",[609622],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18636,Active,Orphanet+OMIM,OMIM:264700,Subtype of disorder,[Disease subtype],"Vitamin d hydroxylation-deficient rickets, type 1a","[1-alpha, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d-deficiency rickets, type ia, 25-hydroxycholecalciferol-1-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, vitamin d dependency, type 1, Vitamin d-dependent rickets, type 1a, pddr ia]","Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR; {601769}) ({11:Koren, 2006}; {17:Liberman and Marx, 2001}).\n\nIn the liver, vitamin D 25-hydroxylase (CYP2R1; {608713}) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1; {609506}) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation ({25:Takeyama et al., 1997}).\n\nDisorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia ({17:Liberman and Marx, 2001}).\n\n<Subhead> Genetic Heterogeneity of Vitamin D-Dependent Rickets\n\nVitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B ({600081}) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1; {608713}), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A; {277440}) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR; {601769}). VDDR2B ({600785}) is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, {164020}) that interferes with the function of the VDR. VDDR3 ({619073}) is a dominant form of VDDR caused by accelerated inactivation of vitamin D metabolites due to mutation in the CYP3A4 gene ({124010}).\n\n<Subhead> Other Forms of Hypophosphatemic Rickets\n\nFor a discussion of other forms of hypophosphatemic rickets, see ADHR ({193100}).",[264700],[289157],[Hypocalcemic vitamin D-dependent rickets],[17319],,,,, +GARD:18637,Active,Orphanet+OMIM,OMIM:105250,Subtype of disorder,[Disease subtype],"Amyloidosis, primary localized cutaneous, 1","[Amyloidosis, primary cutaneous, 1, amyloidosis, familial cutaneous lichen, pca, lichen amyloidosis, familial, amyloidosis ix]","Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {16:Tanaka et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis\n\nPrimary localized cutaneous amyloidosis-2 (PLCA2; {613955}) is caused by heterozygous mutation in the IL31RA gene ({609510}) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3; {617920}) is caused by mutation in the GPNMB gene ({604368}) on chromosome 7p15.",[105250],[353220],[Familial primary localized cutaneous amyloidosis],[17533],,,,, +GARD:18638,Active,Orphanet+OMIM,OMIM:613955,Subtype of disorder,[Disease subtype],"Amyloidosis, primary localized cutaneous, 2",,"Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {2:Tanaka et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of PLCA, see {105250}.",[613955],[353220],[Familial primary localized cutaneous amyloidosis],[17533],,,,, +GARD:18639,Active,Orphanet,ORPHA:316,Disorder,[Disease],Progressive symmetric erythrokeratodermia,"[Darier-Gottron disease, Erythrokeratodermia progressiva symmetrica, Progressive symmetric erythrokeratodermia, Gottron type]",,"[617756, 619209, 618531]",,,,,,,, +GARD:1864,Legacy,GARD,,,,,,,,,,,,Digitorenocerebral syndrome,TRUE,FALSE,Retired +GARD:18640,Active,Orphanet,ORPHA:777,Subtype of disorder,[Etiological subtype],X-linked non-syndromic intellectual disability,,,"[300919, 300716, 300433, 300210, 300558, 300355, 300436, 300428, 300705, 300046, 300271, 300983, 300047, 301013, 300454, 300505, 309549, 300984, 300802, 300324, 300498, 300803, 309530, 300143, 300978, 300419, 300928, 300115, 300848, 300849, 300850, 300372, 300851, 300852, 300844, 300518, 300387, 300062]",,,,,,,, +GARD:18641,Active,Orphanet,ORPHA:36387,Disorder,[Disease],Generalized epilepsy with febrile seizures-plus,"[GEFS+, Genetic epilepsy with febrile seizures-plus]",Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).,"[618482, 604403, 604233, 613060, 613863, 616172, 613828, 612279, 609800]",,,,,,,, +GARD:18642,Active,Orphanet,ORPHA:46532,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,[HPFH-beta-thalassemia syndrome],Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.,"[141749, 305435, 142335, 613566, 142470]",,,,,,,, +GARD:18643,Active,Orphanet,ORPHA:88616,Subtype of disorder,[Etiological subtype],Autosomal recessive non-syndromic intellectual disability,"[AR-NSID, NS-ARID]",,"[616739, 614329, 617125, 611093, 614208, 615979, 613192, 618687, 616887, 614333, 614202, 616460, 614020, 618109, 249500, 617188, 614249, 615817, 614343, 611107, 608443, 614344, 618402, 618221, 614345, 615942, 616116, 614346, 614499, 617816, 614347, 611095, 614340, 611096, 614341, 617709, 616193, 614342, 611097, 617028, 607417, 611090, 611091, 615802, 611092]",,,,,,,, +GARD:18644,Active,Orphanet,ORPHA:90636,Subtype of disorder,[Etiological subtype],Autosomal recessive non-syndromic sensorineural deafness type DFNB,"[Autosomal recessive isolated neurosensory deafness type DFNB, Autosomal recessive isolated neurosensory hearing loss type DFNB, Autosomal recessive isolated sensorineural deafness type DFNB, Autosomal recessive isolated sensorineural hearing loss type DFNB, Autosomal recessive non-syndromic neurosensory deafness type DFNB, Autosomal recessive non-syndromic neurosensory hearing loss type DFNB, Autosomal recessive non-syndromic sensorineural hearing loss type DFNB]",,"[617654, 616515, 608653, 600791, 602092, 609823, 609946, 600974, 618410, 600060, 619093, 619174, 604060, 608264, 618456, 615974, 601072, 610248, 603098, 605428, 603629, 618481, 612645, 613865, 610265, 613307, 616705, 610419, 613453, 615429, 607821, 605818, 614617, 615837, 614944, 610153, 612433, 612789, 600971, 607084, 609647, 600792, 614861, 609439, 608219, 607101, 614934, 610143, 618434, 609941, 601071, 609006, 608265, 613391, 603678, 613718, 615540, 613079, 610220, 610212, 220290, 618257, 608565, 616042, 617639, 613916, 613285, 601386, 609706, 609533, 613685, 607239, 611022, 614899, 614035, 611451, 601869, 603720, 618145, 617637, 603010, 600316, 614414, 607039, 618422, 614945, 610154, 609646, 609952, 613392]",,,,,,,, +GARD:18645,Active,Orphanet,ORPHA:93592,Subtype of disorder,[Clinical subtype],Juvenile nephronophthisis,,,"[615382, 256100]",,,,,,,, +GARD:18646,Active,Orphanet,ORPHA:137634,Disorder,[Malformation syndrome],Overgrowth-macrocephaly-facial dysmorphism syndrome,,"A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.",[613675],,,,,,,, +GARD:18647,Active,Orphanet,ORPHA:168615,Disorder,[Biological anomaly],Hereditary persistence of alpha-fetoprotein,,"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy",[615970],,,,,,,, +GARD:18648,Active,Orphanet,ORPHA:251380,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,[HPFH-sickle cell disease syndrome],"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","[141749, 305435, 142335, 613566, 142470]",,,,,,,, +GARD:18649,Active,Orphanet,ORPHA:254913,Disorder,[Disease],Isolated ATP synthase deficiency,[Isolated mitochondrial respiratory chain complex V deficiency],"Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).","[604273, 618120, 615228, 618683, 614053]",,,,,,,, +GARD:18650,Active,Orphanet,ORPHA:280654,Disorder,[Disease],Autosomal recessive nail dysplasia,,"Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.",[161050],,,,,,,, +GARD:18651,Active,Orphanet,ORPHA:363989,Disorder,[Disease],Familial benign flecked retina,,"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.",[228980],,,,,,,, +GARD:18652,Active,Orphanet,ORPHA:440713,Disorder,[Disease],Isolated sedoheptulokinase deficiency,[Isolated SHPK deficiency],"A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.",[617213],,,,,,,, +GARD:18653,Active,Orphanet,ORPHA:443950,Disorder,[Disease],DNAJB2-related Charcot-Marie-Tooth disease type 2,[DNAJB2-related CMT2],"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.",[614881],,,,,,,, +GARD:18654,Active,Orphanet,ORPHA:444069,Disorder,[Malformation syndrome],Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,,"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).",[243605],,,,,,,, +GARD:18655,Active,Orphanet,ORPHA:572773,Subtype of disorder,[Clinical subtype],Microcephaly-short stature-limb abnormalities syndrome,[MISSLA],,,,,,,,,, +GARD:18656,Active,Orphanet+OMIM,OMIM:141749,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 1,"[hereditary persistence of fetal hemoglobin, hb gene cluster-related, Hemoglobin f, hereditary persistence of]","Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; {141900}) or delta- (HBD; {142000}) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells ({56:Thein and Craig, 1998}).\n\nDelta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH ({47:Ottolenghi et al., 1982}; {23:Forget, 1998}).\n\n{23:Forget (1998)} noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum.\n\nApproximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci ({56:Thein and Craig, 1998}).",[141749],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18657,Active,Orphanet+OMIM,OMIM:142470,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 2,,"Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see {613985}) or sickle cell anemia ({603903}), HPFH can increase HbF output to levels that are clinically beneficial ({8:Thein et al., 2007}).\n\nFor a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 ({141749}).",[142470],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18658,Active,Orphanet+OMIM,OMIM:305435,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 3,,"For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin production, see HBFQTL1 ({141749}).",[305435],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18659,Active,Orphanet+OMIM,OMIM:604233,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 1","[Gefs+, type 1]","Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, {121210}), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by {6:Wallace et al., 1998} and {4:Singh et al., 1999}).\n\n{2:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of GEFS+\n\nGEFS+ is a genetically heterogeneous disorder. See also GEFS+2 ({604403}), caused by mutation in the SCN1A gene ({182389}) on chromosome 2q24; GEFS+3 (see {607681}), caused by mutation in the GABRG2 gene ({137164}) on chromosome 5q34; GEFS+5 ({613060}), associated with variation in the GABRD ({137163}) gene on chromosome 1p36; GEFS+9 ({616172}), caused by mutation in the STX1B gene ({601485}) on chromosome 16p11; GEFS+10 ({618482}), caused by mutation in the HCN1 gene ({602780}) on chromosome 5p12; and GEFS+11 ({602477}), caused by mutation in the HCN2 gene ({602781}) on chromosome 19p13.\n\nSeveral putative loci have also been identified; see GEFS+4 ({609800}), mapped to chromosome 2p24; GEFS+6 ({612279}), mapped to chromosome 8p23-p21; GEFS+7 ({613863}), mapped to chromosome 2q24; and GEFS+8 ({613828}), mapped to chromosome 6q16.3-q22.31.",[604233],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18660,Active,Orphanet+OMIM,OMIM:604273,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 1","[Mitochondrial complex v (atp synthase) deficiency, atpaf2 type]","A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by {3:Mayr et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex V Deficiency\n\nOther nuclear types of mitochondrial complex V deficiency include MC5DN2 ({614052}), caused by mutation in the TMEM70 gene ({612418}) on chromosome 8q21; MC5DN3 ({614053}), caused by mutation in the ATP5E gene (ATP5F1E; {606153}) on chromosome 20q13; MC5DN4 ({615228}), caused by mutation in the ATP5A1 gene (ATP5F1A; {164360}) on chromosome 18q; MC5DN5 ({618120}), caused by mutation in the ATP5D gene (ATP5F1D; {603150}) on chromosome 19p13; and MC5DN6 ({618683}), caused by mutation in the USMG5 gene (ATP5MD; {615204}) on chromosome 10q24.\n\nMutations in the mitochondrial-encoded MTATP6 ({516060}) and MTATP8 ({516070}) genes can also cause mitochondrial complex V deficiency (see, e.g., {500015}).",[604273],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18661,Active,Orphanet+OMIM,OMIM:604403,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 2","[Gefs+, type 2]","Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life. Affected individuals continue to have various types of febrile and afebrile seizures later in life, including generalized tonic-clonic seizures (GTCS). Some patients may have offset of seizures in the first or second decades; rare patients may have mildly impaired intellectual development. In contrast, patients with isolated febrile seizures (FEB3A) have onset between ages 6 months and 4 years, show spontaneous remission by age 6 years, and have normal cognition. Mutations in the SCN1A gene thus cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype (summary by {10:Scheffer and Berkovic, 1997} and {6:Mantegazza et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.",[604403],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18662,Active,Orphanet+OMIM,OMIM:609800,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}.",[609800],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18663,Active,Orphanet+OMIM,OMIM:612279,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 6",,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}.",[612279],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18664,Active,Orphanet+OMIM,OMIM:613828,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 8",,"Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by {1:Poduri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of GEFS+, see {604233}.",[613828],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18665,Active,Orphanet+OMIM,OMIM:613863,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 7",,"Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by {5:Singh et al., 2009}), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by {6:Singh et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.",[613863],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18666,Active,Orphanet+OMIM,OMIM:614053,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 3","[Mitochondrial complex v (atp synthase) deficiency, atp5e type]",,[614053],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18667,Active,Orphanet+OMIM,OMIM:615228,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 4","[Mitochondrial complex v (atp synthase) deficiency, atp5a1 type]",,[615228],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18668,Active,Orphanet+OMIM,OMIM:616172,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 9","[Gefs+, type 9]","Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by {2:Schubert et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.",[616172],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18669,Active,Orphanet+OMIM,OMIM:617756,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 5,,,[617756],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18670,Active,Orphanet+OMIM,OMIM:618120,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 5","[Mitochondrial complex v (atp synthase) deficiency, atp5f1d type]",,[618120],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18671,Active,Orphanet+OMIM,OMIM:618482,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 10","[Gefs+, type 10]","Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit. Some patients may have impaired intellectual development or autistic features. Brain imaging is usually normal (summary by {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.",[618482],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18672,Active,Orphanet+OMIM,OMIM:618531,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 6,,"EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty ({1:Wang et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[618531],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18673,Active,Orphanet+OMIM,OMIM:618683,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 6",,"Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see {256000}) (summary by {1:Barca et al., 2018}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 ({604273}).",[618683],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18674,Active,Orphanet+OMIM,OMIM:619209,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 7,,"Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present ({1:Duchatelet et al., 2019}; {2:Patel et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[619209],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18675,Active,Orphanet,ORPHA:67,Disorder,[Disease],Amoebiasis due to Entamoeba histolytica,,"A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.",,,,,,,,, +GARD:18676,Active,Orphanet,ORPHA:69,Group of disorders,[Category],Amyloidosis,,A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.,,,,,,,,, +GARD:18677,Active,Orphanet,ORPHA:92,Group of disorders,[Clinical group],Juvenile idiopathic arthritis,"[Juvenile chronic arthritis, Juvenile rheumatoid arthritis]","A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin.",,,,,,,,, +GARD:18678,Active,Orphanet,ORPHA:105,Disorder,[Morphological anomaly],Atresia of urethra,[Urethral atresia],"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.",,,,,,,,, +GARD:18679,Active,Orphanet,ORPHA:176,Group of disorders,[Clinical group],Non-rhizomelic chondrodysplasia punctata,,"Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.",,,,,,,,, +GARD:1868,Legacy,GARD,,,,,,,,,,,,Dincsoy-Salih-Patel syndrome,TRUE,FALSE,Retired +GARD:18680,Active,Orphanet,ORPHA:185,Disorder,[Malformation syndrome],Scimitar syndrome,"[Congenital pulmonary venolobar syndrome, Epibronchial right pulmonary vein syndrome, Halasz syndrome, Hypogenetic lung syndrome]",Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.,,,,,,,,, +GARD:18681,Active,Orphanet,ORPHA:200,Disorder,[Morphological anomaly],Isolated corpus callosum agenesis,,"A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.",,,,,,,,, +GARD:18682,Active,Orphanet,ORPHA:224,Group of disorders,[Category],Neonatal diabetes mellitus,[NDM],"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.",,,,,,,,, +GARD:18683,Active,Orphanet,ORPHA:236,Disorder,[Malformation syndrome],Trisomy 9p,"[Duplication 9p, Duplication of the short arm of chromosome 9, Trisomy of the short arm of chromosome 9]","Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.",,,,,,,,, +GARD:18684,Active,Orphanet,ORPHA:238,Disorder,[Morphological anomaly],Digestive duplication,,"Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a digestive mucosa. The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications.",,,,,,,,, +GARD:18685,Active,Orphanet,ORPHA:254,Group of disorders,[Clinical group],Spondylometaphyseal dysplasia,,Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.,,,,,,,,, +GARD:18686,Active,Orphanet,ORPHA:262,Group of disorders,[Clinical group],Duchenne and Becker muscular dystrophy,"[Severe dystrophinopathy, Duchenne and Becker type]","A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.",,,,,,,,, +GARD:18687,Active,Orphanet,ORPHA:293,Disorder,[Disease],Congenital herpes simplex virus infection,"[Antenatal herpes simplex virus infection, Mother-to-child transmission of herpes simplex virus infection]","Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.",,,,,,,,, +GARD:18688,Active,Orphanet,ORPHA:310,Group of disorders,[Clinical group],Reflex epilepsy,,"Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).",,,,,,,,, +GARD:18689,Active,Orphanet,ORPHA:340,Disorder,[Disease],Hemorrhagic fever-renal syndrome,"[Hantavirosis, Hantavirus fever]","A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.",,,,,,,,, +GARD:18690,Active,Orphanet,ORPHA:344,Group of disorders,[Category],Arbovirus fever,,"A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.",,,,,,,,, +GARD:18691,Active,Orphanet,ORPHA:370,Group of disorders,[Clinical group],Glycogen storage disease due to phosphorylase kinase deficiency,"[GSD due to phosphorylase kinase deficiency, GSD type 9, GSD type IX, Glycogen storage disease due to PhK deficiency, Glycogen storage disease type 9, Glycogen storage disease type IX, Glycogenosis due to phosphorylase kinase deficiency, Glycogenosis type 9, Glycogenosis type IX, Gycogenosis due to PhK deficiency]","Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).",,,,,,,,, +GARD:18692,Active,Orphanet,ORPHA:390,Disorder,[Disease],Histoplasmosis,[Darling disease],"A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.",,,,,,,,, +GARD:18693,Active,Orphanet,ORPHA:493,Disorder,[Disease],Familial keratoacanthoma,"[Hereditary keratoacanthoma, Multiple keratoacanthoma]","A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.",,,,,,,,, +GARD:18694,Active,Orphanet,ORPHA:498,Group of disorders,[Clinical group],Keratosis pilaris atrophicans,,,,,,,,,,, +GARD:18695,Active,Orphanet,ORPHA:536,Disorder,[Disease],Systemic lupus erythematosus,"[Disseminated lupus erythematosus, SLE]",,,,,,,,,, +GARD:18696,Active,Orphanet,ORPHA:537,Subtype of disorder,[Clinical subtype],Toxic epidermal necrolysis,[Lyell syndrome],An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.,,,,,,,,, +GARD:18697,Active,Orphanet,ORPHA:541,Group of disorders,[Clinical group],Primary cutaneous CD30+ T-cell lymphoproliferative disease,[Primary cutaneous Ki-1+ T-cell lymphoproliferative disease],,,,,,,,,, +GARD:18698,Active,Orphanet,ORPHA:542,Group of disorders,[Category],Primary cutaneous lymphoma,,"Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.",,,,,,,,, +GARD:18699,Active,Orphanet,ORPHA:599,Group of disorders,[Category],Distal myopathy,[Distal muscular dystrophy],Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.,,,,,,,,, +GARD:1870,Legacy,GARD,,,,,,,,,,,,Diomedi Bernardi Placidi syndrome,TRUE,FALSE,Active +GARD:18700,Active,Orphanet,ORPHA:617,Disorder,[Morphological anomaly],Congenital primary megaureter,[Congenital primary megalo-ureter],"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.",,,,,,,,, +GARD:18701,Active,Orphanet,ORPHA:658,Group of disorders,[Clinical group],Non-histaminic angioedema,"[Angioneurotic edema, Bradykinine-induced angioedema, Non histamine-induced angioedema]",A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.,,,,,,,,, +GARD:18702,Active,Orphanet,ORPHA:707,Disorder,[Disease],Plague,[Yersiniosis],Plague is a severe bacterial infection caused by the Gram-negative bacterium Yersinia pestis.,,,,,,,,, +GARD:18703,Active,Orphanet,ORPHA:720,Disorder,[Disease],Pili bifurcati,,An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.,,,,,,,,, +GARD:18704,Active,Orphanet,ORPHA:795,Group of disorders,[Category],Rare form of salmonellosis,,"Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with Salmonella enterica typhoidal species (S. typhi and S. paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of S. typhimurium and S. enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly.",,,,,,,,, +GARD:18705,Active,Orphanet,ORPHA:801,Group of disorders,[Clinical group],Scleroderma,,"Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).",,,,,,,,, +GARD:18706,Active,Orphanet,ORPHA:831,Disorder,[Disease],Congenital cervical spinal stenosis,"[Congenital narrowing of cervical spinal canal, Congenital stenosis of the cervical spine]","Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.",,,,,,,,, +GARD:18707,Active,Orphanet,ORPHA:854,Disorder,[Clinical syndrome],Primitive portal vein thrombosis,[Non-cirrhotic portal vein thrombosis],Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.,,,,,,,,, +GARD:18708,Active,Orphanet,ORPHA:858,Disorder,[Disease],Congenital toxoplasmosis,"[Mother-to-child transmission of toxoplasmosis, Toxoplasma embryofetopathy, Toxoplasma embryopathy]","A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by Toxoplasma gondii (Tg).",,,,,,,,, +GARD:18709,Active,Orphanet,ORPHA:874,Disorder,[Disease],Primary adult heart tumor,"[Adult cardiac tumor, Adult heart tumor]","A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.",,,,,,,,, +GARD:18710,Active,Orphanet,ORPHA:875,Disorder,[Disease],Primary pediatric heart tumor,"[Cardiac tumor of child, Heart tumor of child]","Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.",,,,,,,,, +GARD:18711,Active,Orphanet,ORPHA:883,Disorder,[Disease],Extragonadal teratoma,,"Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.",,,,,,,,, +GARD:18712,Active,Orphanet,ORPHA:980,Disorder,[Morphological anomaly],Absence of the pulmonary artery,"[Aplasia of pulmonary artery, UAPA, Unilateral Pulmonary Artery Absence, Unilateral pulmonary artery agenesis]","A rare congenital great vessels anomaly that commonly presents with dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. It is often associated with congenital heart malformation (CHM ). In the absence of associated cardiac malformation the condition may be asymptomatic until adult age.",,,,,,,,, +GARD:18713,Active,Orphanet,ORPHA:1006,Disorder,[Disease],Alopecia antibody deficiency,[Ipp-Gelfand syndrome],"A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.",,,,,,,,, +GARD:18714,Active,Orphanet,ORPHA:1047,Group of disorders,[Category],Sideroblastic anemia,,"Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).",,,,,,,,, +GARD:18715,Active,Orphanet,ORPHA:1084,Disorder,[Disease],Isolated lissencephaly type 1 without known genetic defects,,"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.",,,,,,,,, +GARD:18716,Active,Orphanet,ORPHA:1121,Disorder,[Malformation syndrome],Radial deficiency-tibial hypoplasia syndrome,,"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.",,,,,,,,, +GARD:18717,Active,Orphanet,ORPHA:1138,Group of disorders,[Clinical group],Abnormal origin of the pulmonary artery,,,,,,,,,,, +GARD:18718,Active,Orphanet,ORPHA:1172,Group of disorders,[Category],Autosomal recessive cerebellar ataxia,[ARCA],"A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.",,,,,,,,, +GARD:18719,Active,Orphanet,ORPHA:1349,Disorder,[Malformation syndrome],Mitochondrial DNA-related cardiomyopathy and hearing loss,"[Maternally-inherited cardiomyopathy and deafness, mtDNA-related cardiomyopathy and deafness, mtDNA-related cardiomyopathy and hearing loss, tRNA-LYS-related cardiomyopathy-hearing loss syndrome]","A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.",,,,,,,,, +GARD:1872,Active,Orphanet,ORPHA:227,Disorder,[Morphological anomaly],Diphallia,,"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.",,,,,,Diphallia,TRUE,FALSE,Active +GARD:18720,Active,Orphanet,ORPHA:1398,Disorder,[Morphological anomaly],Isolated cerebellar agenesis,"[Near total absence of cerebellum, Subtotal absence of cerebellum]","A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.",,,,,,,,, +GARD:18721,Active,Orphanet,ORPHA:1431,Group of disorders,[Clinical group],Paroxysmal dyskinesia,"[Paroxysmal choreoathetosis, Paroxysmal dystonic choreoathetosis]","Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).",,,,,,,,, +GARD:18722,Active,Orphanet,ORPHA:1455,Subtype of disorder,[Clinical subtype],Autosomal dominant coarctation of aorta,,"A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.",,,,,,,,, +GARD:18723,Active,Orphanet,ORPHA:1456,Subtype of disorder,[Clinical subtype],Atypical coarctation of aorta,"[Coarctation of the abdominal aorta, Mid-aortic dysplastic syndrome, Mid-aortic syndrome, Midaortic syndrome, Middle aortic syndrome]","A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).",,,,,,,,, +GARD:18724,Active,Orphanet,ORPHA:1461,Disorder,[Morphological anomaly],Criss-cross heart,"[Criss-cross atrioventricular relationships, Superoinferior ventricles, Twisted atrioventricular connections]","Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.",,,,,,,,, +GARD:18725,Active,Orphanet,ORPHA:1464,Disorder,[Morphological anomaly],Univentricular heart,[Double inlet atrioventricular connection],"A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.",,,,,,,,, +GARD:18726,Active,Orphanet,ORPHA:1505,Group of disorders,[Clinical group],Short rib-polydactyly syndrome,,A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).,,,,,,,,, +GARD:18727,Active,Orphanet,ORPHA:1506,Disorder,[Malformation syndrome],Thin ribs-tubular bones-dysmorphism syndrome,[Sharma-Kapoor-Ramji syndrome],"An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.",,,,,,,,, +GARD:18728,Active,Orphanet,ORPHA:1544,Disorder,[Disease],Benign focal seizures of adolescence,[Adolescent benign focal crisis],"A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.",,,,,,,,, +GARD:18729,Active,Orphanet,ORPHA:1581,Disorder,[Malformation syndrome],Non-distal monosomy 10q,"[Non-distal deletion 10q, Non-telomeric monosomy 10q]","Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.",,,,,,,,, +GARD:1873,Legacy,GARD,,,,,,,,,,,,Diphallus rachischisis imperforate anus,TRUE,FALSE,Active +GARD:18730,Active,Orphanet,ORPHA:1627,Disorder,[Malformation syndrome],Deletion 5q35,"[Del (5)(q35), Del (5)(qter), Distal 5q deletion, Monosomy 5q35, Telomeric deletion 5q]","Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.",,,,,,,,, +GARD:18731,Active,Orphanet,ORPHA:1636,Disorder,[Malformation syndrome],Distal monosomy 7q36,"[Distal deletion 7q36, Monosomy 7qter, Telomeric deletion 7q36]","Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.",,,,,,,,, +GARD:18732,Active,Orphanet,ORPHA:1642,Disorder,[Malformation syndrome],Distal monosomy 9p,"[Distal deletion 9p, Monosomy 9pter, Telomeric deletion 9p]","Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.",,,,,,,,, +GARD:18733,Active,Orphanet,ORPHA:1643,Disorder,[Malformation syndrome],Xp22.3 microdeletion syndrome,[Del(X)(p23)],"Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.",,,,,,,,, +GARD:18734,Active,Orphanet,ORPHA:1665,Disorder,[Malformation syndrome],Sporadic fetal brain disruption sequence,,"Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.",,,,,,,,, +GARD:18735,Active,Orphanet,ORPHA:1677,Disorder,[Morphological anomaly],Familial idiopathic dilatation of the right atrium,,"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.",,,,,,,,, +GARD:18736,Active,Orphanet,ORPHA:1692,Disorder,[Malformation syndrome],Mosaic trisomy 1,"[Mosaic trisomy chromosome 1, Trisomy 1 mosaicism]","A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (campodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.",,,,,,,,, +GARD:18737,Active,Orphanet,ORPHA:1695,Disorder,[Malformation syndrome],Non-distal trisomy 10q,"[Non-distal duplication 10q, Non-telomeric trisomy 10q]","Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.",,,,,,,,, +GARD:18738,Active,Orphanet,ORPHA:1702,Disorder,[Malformation syndrome],Non-distal trisomy 13q,"[Non-distal duplication 13q, Non-telomeric trisomy 13q]","Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.",,,,,,,,, +GARD:18739,Active,Orphanet,ORPHA:1705,Disorder,[Malformation syndrome],Distal trisomy 14q,"[Distal duplication 14q, Telomeric duplication 14q, Trisomy 14qter]","Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.",,,,,,,,, +GARD:1874,Active,Orphanet,ORPHA:714,Disorder,[Disease],Hemolytic anemia due to diphosphoglycerate mutase deficiency,,,[222800],,,,,Diphosphoglycerate mutase deficiency of erythrocyte,TRUE,FALSE,Active +GARD:18740,Active,Orphanet,ORPHA:1707,Subtype of disorder,[Etiological subtype],Distal trisomy 15q,"[Distal duplication 15q, Telomeric duplication 15q, Trisomy 15qter]",,,,,,,,,, +GARD:18741,Active,Orphanet,ORPHA:1708,Disorder,[Malformation syndrome],Mosaic trisomy 16,"[Mosaic trisomy chromosome 16, Trisomy 16 mosaicism]","Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.",,,,,,,,, +GARD:18742,Active,Orphanet,ORPHA:1716,Disorder,[Malformation syndrome],Distal trisomy 18q,"[Distal duplication 18q, Telomeric duplication 18q, Trisomy 18qter]","Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.",,,,,,,,, +GARD:18743,Active,Orphanet,ORPHA:1717,Disorder,[Malformation syndrome],Distal trisomy 19q,"[Distal duplication 19q, Telomeric duplication 19q, Trisomy 19qter]","Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.",,,,,,,,, +GARD:18744,Active,Orphanet,ORPHA:1724,Disorder,[Malformation syndrome],Mosaic trisomy 20,"[Mosaic trisomy chromosome 20, Trisomy 20 mosaicism]","Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.",,,,,,,,, +GARD:18745,Active,Orphanet,ORPHA:1745,Disorder,[Malformation syndrome],Distal trisomy 6p,"[Distal duplication 6p, Telomeric duplication 6p, Trisomy 6pter]","Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.",,,,,,,,, +GARD:18746,Active,Orphanet,ORPHA:1757,Disorder,[Malformation syndrome],Fibular dimelia-diplopodia syndrome,[Leg duplication-mirror foot syndrome],"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.",,,,,,,,, +GARD:18747,Active,Orphanet,ORPHA:1772,Disorder,[Malformation syndrome],"45,X/46,XY mixed gonadal dysgenesis","[45,X/46,XY MGD, 45,X0/46,XY MGD, 45,X0/46,XY mixed gonadal dysgenesis]","45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.",,,,,,,,, +GARD:18748,Active,Orphanet,ORPHA:1851,Disorder,[Morphological anomaly],Multicystic dysplastic kidney,"[MCDK, Multicystic renal dysplasia]","A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.",,,,,,,,, +GARD:18749,Active,Orphanet,ORPHA:1866,Group of disorders,[Category],"Focal, segmental or multifocal dystonia",,"A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.",,,,,,,,, +GARD:1875,Active,Orphanet,ORPHA:1679,Disorder,[Disease],Diphtheria,,"A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.",,,,,,Diphtheria,TRUE,FALSE,Active +GARD:18750,Active,Orphanet,ORPHA:1913,Disorder,[Malformation syndrome],Fetal trimethadione syndrome,,"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.",,,,,,,,, +GARD:18751,Active,Orphanet,ORPHA:1920,Disorder,[Malformation syndrome],Toluene embryopathy,,"A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.",,,,,,,,, +GARD:18752,Active,Orphanet,ORPHA:1929,Disorder,[Disease],Rasmussen subacute encephalitis,[Rasmussen syndrome],"A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.",,,,,,,,, +GARD:18753,Active,Orphanet,ORPHA:1931,Subtype of disorder,[Clinical subtype],Frontal encephalocele,[Anterior encephalocele],,,,,,,,,, +GARD:18754,Active,Orphanet,ORPHA:1991,Group of disorders,[Clinical group],Cleft lip with or without cleft palate,"[Tessier cleft number 1,2]",,,,,,,,,, +GARD:18755,Active,Orphanet,ORPHA:2003,Disorder,[Malformation syndrome],Cleft lip/palate-deafness-sacral lipoma syndrome,"[Cleft lip/palate-hearing loss-sacral lipoma syndrome, Lowry-Yong syndrome]","Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.",,,,,,,,, +GARD:18756,Active,Orphanet,ORPHA:2006,Disorder,[Morphological anomaly],Median cleft lip/mandibule,[Median cleft lower facial stage],Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.,,,,,,,,, +GARD:18757,Active,Orphanet,ORPHA:2034,Group of disorders,[Category],Filariasis,,"A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.",,,,,,,,, +GARD:18758,Active,Orphanet,ORPHA:2039,Disorder,[Morphological anomaly],Congenital systemic arteriovenous fistula,,"Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.",,,,,,,,, +GARD:18759,Active,Orphanet,ORPHA:2062,Disorder,[Malformation syndrome],Progressive non-infectious anterior vertebral fusion,[Copenhagen syndrome],Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.,,,,,,,,, +GARD:1876,Active,Orphanet,ORPHA:1681,Disorder,[Morphological anomaly],Diprosopus,"[Craniofacial duplication, Diprosopia]","Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.",,,,,,Diprosopia,TRUE,FALSE,Active +GARD:18760,Active,Orphanet,ORPHA:2104,Disorder,[Malformation syndrome],Dysmorphism-pectus carinatum-joint laxity syndrome,[Guízar Vázquez-Sánchez-Manzano syndrome],"Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.",,,,,,,,, +GARD:18761,Active,Orphanet,ORPHA:2130,Group of disorders,[Clinical group],Hemimelia,[Longitudinal meromelia],"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.",,,,,,,,, +GARD:18762,Active,Orphanet,ORPHA:2145,Disorder,[Malformation syndrome],"Craniosynostosis, Herrmann-Opitz type",,"Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.",,,,,,,,, +GARD:18763,Active,Orphanet,ORPHA:2266,Disorder,[Disease],"Hypotrichosis-intellectual disability, Lopes type",[Lopes-Marques de Faria syndrome],"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.",,,,,,,,, +GARD:18764,Active,Orphanet,ORPHA:2282,Disorder,[Malformation syndrome],Dysmorphism-short stature-deafness-disorder of sex development syndrome,"[Dysmorphism-short stature-hearing loss-disorder of sex development syndrome, Ieshima-Koeda-Inagaki syndrome]","Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.",,,,,,,,, +GARD:18765,Active,Orphanet,ORPHA:2305,Disorder,[Malformation syndrome],Isotretinoin syndrome,"[Isotretinoin embryopathy, Retinoic acid embryopathy, Retinoids embryopathy]","A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.",,,,,,,,, +GARD:18766,Active,Orphanet,ORPHA:2325,Disorder,[Malformation syndrome],Epidermolysis bullosa simplex with anodontia/hypodontia,"[EBS with anodontia/hypodontia, Kallin syndrome]","A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.",,,,,,,,, +GARD:18767,Active,Orphanet,ORPHA:2326,Disorder,[Malformation syndrome],Kallmann syndrome-heart disease syndrome,,"Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.",,,,,,,,, +GARD:18768,Active,Orphanet,ORPHA:2338,Group of disorders,[Clinical group],Isolated punctate palmoplantar keratoderma,"[Isolated punctate PPK, Isolated punctate palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:18769,Active,Orphanet,ORPHA:2416,Group of disorders,[Clinical group],Congenital primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:18770,Active,Orphanet,ORPHA:2420,Disorder,[Disease],Primary pulmonary lymphoma,,"A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).",,,,,,,,, +GARD:18771,Active,Orphanet,ORPHA:2443,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,"[Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies, OXPHOS disease due to nDNA anomalies, OXPHOS disease due to nuclear DNA anomalies]","A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.",,,,,,,,, +GARD:18772,Active,Orphanet,ORPHA:2444,Disorder,[Malformation syndrome],Congenital pulmonary airway malformation,"[CCAM, CPAM, Congenital cystic adenomatoid malformation of the lung, Congenital cystic adenomatous malformation of the lung, Congenital cystic disease of the lung]","A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.",,,,,,,,, +GARD:18773,Active,Orphanet,ORPHA:2487,Disorder,[Malformation syndrome],Lower limb malformation-hypospadias syndrome,[Fried-Goldberg-Mundel syndrome],"Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.",,,,,,,,, +GARD:18774,Active,Orphanet,ORPHA:2519,Disorder,[Malformation syndrome],Microcephaly-seizures-intellectual disability-heart disease syndrome,,"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.",,,,,,,,, +GARD:18775,Active,Orphanet,ORPHA:2582,Disorder,[Malformation syndrome],Myalgia-eosinophilia syndrome associated with tryptophan,,"Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.",,,,,,,,, +GARD:18776,Active,Orphanet,ORPHA:2653,Disorder,[Malformation syndrome],Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,"[Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome, Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome, Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome]","Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.",,,,,,,,, +GARD:18777,Active,Orphanet,ORPHA:2666,Disorder,[Disease],Adult familial nephronophthisis-spastic quadriparesia syndrome,,"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.",,,,,,,,, +GARD:18778,Active,Orphanet,ORPHA:2787,Disorder,[Malformation syndrome],Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,[Heide syndrome],"A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.",,,,,,,,, +GARD:18779,Active,Orphanet,ORPHA:2846,Group of disorders,[Category],Congenital pericardium anomaly,,"Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).",,,,,,,,, +GARD:1878,Legacy,GARD,,,,,,,,,,,,"Chromosome 1, uniparental disomy 1q12 q21",TRUE,FALSE,Active +GARD:18780,Active,Orphanet,ORPHA:2847,Disorder,[Malformation syndrome],Pericardial and diaphragmatic defect,,Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.,,,,,,,,, +GARD:18781,Active,Orphanet,ORPHA:2907,Disorder,[Disease],Hereditary acrokeratotic poikiloderma,[Weary syndrome],"A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.",,,,,,,,, +GARD:18782,Active,Orphanet,ORPHA:2973,Disorder,[Malformation syndrome],"46,XX disorder of sex development-anorectal anomalies syndrome",,"46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.",,,,,,,,, +GARD:18783,Active,Orphanet,ORPHA:2982,Group of disorders,[Category],"46,XX disorder of sex development","[46,XX DSD]",,,,,,,,,, +GARD:18784,Active,Orphanet,ORPHA:3004,Disorder,[Malformation syndrome],Mirror polydactyly-vertebral segmentation-limbs defects syndrome,,"A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.",,,,,,,,, +GARD:18785,Active,Orphanet,ORPHA:3091,Group of disorders,[Category],Congenital systemic veins anomaly,,,,,,,,,,, +GARD:18786,Active,Orphanet,ORPHA:3093,Disorder,[Morphological anomaly],Congenital aortic valve stenosis,,"A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.",,,,,,,,, +GARD:18787,Active,Orphanet,ORPHA:3151,Disorder,[Disease],Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,,"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:18788,Active,Orphanet,ORPHA:3225,Disorder,[Malformation syndrome],Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,[Tungland-Bellman syndrome],Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.,,,,,,,,, +GARD:18789,Active,Orphanet,ORPHA:3240,Disorder,[Disease],Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,"[Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome, Yoshimura-Takeshita syndrome]","A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptions in the literature since 1997.",,,,,,,,, +GARD:18790,Active,Orphanet,ORPHA:3276,Group of disorders,[Category],Disorder of plasmalogens biosynthesis,,,,,,,,,,, +GARD:18791,Active,Orphanet,ORPHA:3293,Disorder,[Malformation syndrome],Telecanthus-hypertelorism-strabismus-pes cavus syndrome,,"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.",,,,,,,,, +GARD:18792,Active,Orphanet,ORPHA:3309,Disorder,[Malformation syndrome],Tetrasomy 5p,[Isochromosome 5p],"Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).",,,,,,,,, +GARD:18793,Active,Orphanet,ORPHA:3343,Disorder,[Disease],Toxocariasis,,"A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).",,,,,,,,, +GARD:18794,Active,Orphanet,ORPHA:3379,Disorder,[Malformation syndrome],Distal trisomy 17q,"[Distal duplication 17q, Telomeric duplication 17q, Trisomy 17qter]","Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.",,,,,,,,, +GARD:18795,Active,Orphanet,ORPHA:3386,Disorder,[Disease],American trypanosomiasis,[Chagas disease],"A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.",,,,,,,,, +GARD:18796,Active,Orphanet,ORPHA:3388,Group of disorders,[Category],Neural tube defect,,,,,,,,,,, +GARD:18797,Active,Orphanet,ORPHA:3399,Group of disorders,[Category],Germ cell tumor,,,,,,,,,,, +GARD:18798,Active,Orphanet,ORPHA:3400,Disorder,[Morphological anomaly],Aorto-ventricular tunnel,,"A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.",,,,,,,,, +GARD:18799,Active,Orphanet,ORPHA:26349,Disorder,[Disease],Protein S acquired deficiency,,,,,,,,,,, +GARD:188,Legacy,GARD,,,,,,,,,,,,N acetyltransferase deficiency,TRUE,FALSE,Active +GARD:18800,Active,Orphanet,ORPHA:31142,Disorder,[Disease],Oral erosive lichen,,,,,,,,,,, +GARD:18801,Active,Orphanet,ORPHA:31153,Group of disorders,[Clinical group],Hypoalphalipoproteinemia,,,,,,,,,,, +GARD:18802,Active,Orphanet,ORPHA:31154,Group of disorders,[Clinical group],Hypobetalipoproteinemia,,Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.,,,,,,,,, +GARD:18803,Active,Orphanet,ORPHA:31824,Disorder,[Particular clinical situation in a disease or syndrome],Colchicine poisoning,,"Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.",,,,,,,,, +GARD:18804,Active,Orphanet,ORPHA:31825,Disorder,[Disease],Methanol poisoning,,"Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).",,,,,,,,, +GARD:18805,Active,Orphanet,ORPHA:31826,Disorder,[Disease],Ethylene glycol poisoning,,"Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.",,,,,,,,, +GARD:18806,Active,Orphanet,ORPHA:31827,Disorder,[Disease],Paraquat poisoning,,"Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.",,,,,,,,, +GARD:18807,Active,Orphanet,ORPHA:31828,Disorder,[Particular clinical situation in a disease or syndrome],Digitalis poisoning,,"A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.",,,,,,,,, +GARD:18808,Active,Orphanet,ORPHA:33408,Disorder,[Disease],Bullous lichen planus,,Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.,,,,,,,,, +GARD:18809,Active,Orphanet,ORPHA:33475,Disorder,[Disease],Meningococcal meningitis,,"Meningococcal meningitis is an acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.",,,,,,,,, +GARD:18810,Active,Orphanet,ORPHA:34533,Group of disorders,[Category],Corneal dystrophy,,The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.,,,,,,,,, +GARD:18811,Active,Orphanet,ORPHA:35062,Disorder,[Disease],Severe disseminated cytomegalovirus infection in immunocompetent patients,[Severe disseminated CMV infection in immunocompetent patients],"A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.",,,,,,,,, +GARD:18812,Active,Orphanet,ORPHA:35063,Disorder,[Disease],Fulminant viral hepatitis,,"Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.",,,,,,,,, +GARD:18813,Active,Orphanet,ORPHA:35125,Disorder,[Disease],Epidermal nevus syndrome,[Epidermal hamartoma syndrome],"Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.",,,,,,,,, +GARD:18814,Active,Orphanet,ORPHA:35696,Group of disorders,[Category],Mitochondrial disorder due to a defect in mitochondrial protein synthesis,"[COXPD, Combined OXPHOS defect, Combined OXPHOS deficiency, Combined oxidative phosphorylation defect]",,,,,,,,,, +GARD:18815,Active,Orphanet,ORPHA:35705,Group of disorders,[Category],Neurometabolic disorder due to serine deficiency,[Serine deficiency],"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).",,,,,,,,, +GARD:18816,Active,Orphanet,ORPHA:35808,Group of disorders,[Category],Malignant sex cord stromal tumor of ovary,"[Malignant ovarian SCST, Malignant ovarian sex cord-stromal tumor]","Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.",,,,,,,,, +GARD:18817,Active,Orphanet,ORPHA:35889,Disorder,[Disease],Acute opioid poisoning,,"A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.",,,,,,,,, +GARD:18818,Active,Orphanet,ORPHA:35981,Group of disorders,[Clinical group],Polymicrogyria,,"A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.",,,,,,,,, +GARD:18819,Active,Orphanet,ORPHA:36235,Disorder,[Disease],Staphylococcal scarlet fever,,"A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rheumatic fever, glomerulonephritis, and endocarditis, among others. The disease is caused by infection with toxin producing strains of Streptococcus pyogenes and can affect people of any age, although it is most common in children.",,,,,,,,, +GARD:18820,Active,Orphanet,ORPHA:36237,Disorder,[Disease],Bullous impetigo,,"A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.",,,,,,,,, +GARD:18821,Active,Orphanet,ORPHA:36238,Disorder,[Disease],Staphylococcal necrotizing pneumonia,,"Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.",,,,,,,,, +GARD:18822,Active,Orphanet,ORPHA:36273,Disorder,[Disease],Gastric linitis plastica,"[Borrmann gastric cancer type 4, Linitis plastica of the stomach]","Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.",,,,,,,,, +GARD:18823,Active,Orphanet,ORPHA:36382,Disorder,[Disease],Familial cervical artery dissection,"[Familial CAD, Hereditary CAD, Hereditary cervical artery dissection]","Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.",,,,,,,,, +GARD:18824,Active,Orphanet,ORPHA:36913,Disorder,[Disease],Autoimmune hypoparathyroidism,,"A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.",,,,,,,,, +GARD:18825,Active,Orphanet,ORPHA:37202,Disorder,[Disease],Interstitial cystitis,"[Bladder pain syndrome, IC/BPS, IC/PBS, Interstitial cystitis/bladder pain syndrome, Interstitial cystitis/painful bladder syndrome, Painful bladder syndrome]","A rare non-infectious, chronic and most often progressive disease of the urinary bladder. It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgency. Interstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB).",,,,,,,,, +GARD:18826,Active,Orphanet,ORPHA:37559,Disorder,[Disease],Acquired kinky hair syndrome,,"A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.",,,,,,,,, +GARD:18827,Active,Orphanet,ORPHA:40366,Disorder,[Malformation syndrome],Acitretin/etretinate embryopathy,"[Fetal acitretin/etretinate syndrome, Retinoid embryopathy]","A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.",,,,,,,,, +GARD:18828,Active,Orphanet,ORPHA:43116,Disorder,[Disease],Serotonin syndrome,"[Serotonergic syndrome, Serotonin storm, Serotonin toxicity, Serotonin toxidrome]","Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).",,,,,,,,, +GARD:18829,Active,Orphanet,ORPHA:43117,Disorder,[Particular clinical situation in a disease or syndrome],Acute tricyclic antidepressant poisoning,,"A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.",,,,,,,,, +GARD:1883,Active,Orphanet,ORPHA:345,Disorder,[Disease],Dissecting cellulitis of the scalp,,"Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.",[260910],,,,,Dissecting cellulitis of the scalp,TRUE,FALSE,Active +GARD:18830,Active,Orphanet,ORPHA:43119,Disorder,[Particular clinical situation in a disease or syndrome],Acute poisoning by drugs with membrane-stabilizing effect,,"A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others.",,,,,,,,, +GARD:18831,Active,Orphanet,ORPHA:45452,Disorder,[Disease],Idiopathic neonatal atrial flutter,,"Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.",,,,,,,,, +GARD:18832,Active,Orphanet,ORPHA:45453,Disorder,[Disease],Incessant infant ventricular tachycardia,,"Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.",,,,,,,,, +GARD:18833,Active,Orphanet,ORPHA:46485,Group of disorders,[Clinical group],Superficial pemphigus,,,,,,,,,,, +GARD:18834,Active,Orphanet,ORPHA:46488,Disorder,[Disease],Linear IgA dermatosis,,"A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).",,,,,,,,, +GARD:18835,Active,Orphanet,ORPHA:48435,Disorder,[Disease],Postinfectious vasculitis,,"Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.",,,,,,,,, +GARD:18836,Active,Orphanet,ORPHA:48736,Subtype of disorder,[Clinical subtype],Embryonal carcinoma of the central nervous system,[Embryonal carcinoma of the CNS],,,,,,,,,, +GARD:18837,Active,Orphanet,ORPHA:48918,Disorder,[Disease],Focal myositis,"[Focal nodular myositis, Inflammatory pseudotumor of skeletal muscle]",A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.,,,,,,,,, +GARD:18838,Active,Orphanet,ORPHA:49566,Disorder,[Disease],Acquired purpura fulminans,,"A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans.",,,,,,,,, +GARD:18839,Active,Orphanet,ORPHA:49804,Disorder,[Disease],Lichen amyloidosis,"[Amyloid lichen, Lichen amyloidosus]","Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.",,,,,,,,, +GARD:1884,Legacy,GARD,,,,,,,,,,,,Distal arthrogryposis Moore Weaver type,TRUE,FALSE,Retired +GARD:18840,Active,Orphanet,ORPHA:50810,Disorder,[Malformation syndrome],Microlissencephaly-micromelia syndrome,[Basel-Vanagaite-Sirota syndrome],"Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.",,,,,,,,, +GARD:18841,Active,Orphanet,ORPHA:50812,Disorder,[Disease],Zellweger-like syndrome without peroxisomal anomalies,[Ahn-Lerman-Sagie syndrome],"Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.",,,,,,,,, +GARD:18842,Active,Orphanet,ORPHA:50817,Disorder,[Disease],Duane anomaly-myopathy-scoliosis syndrome,[Verloes-Deprez syndrome],"Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.",,,,,,,,, +GARD:18843,Active,Orphanet,ORPHA:51890,Disorder,[Disease],Anterior cutaneous nerve entrapment syndrome,"[ACNES, Intercostal nerve syndrome, Rectus abdominis syndrome]",A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.,,,,,,,,, +GARD:18844,Active,Orphanet,ORPHA:52759,Group of disorders,[Category],Vasculitis,[Systemic vasculitis],"Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease.",,,,,,,,, +GARD:18845,Active,Orphanet,ORPHA:52994,Disorder,[Disease],Orbital leiomyoma,,"Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.",,,,,,,,, +GARD:18846,Active,Orphanet,ORPHA:54247,Disorder,[Disease],Posterior cortical atrophy,"[Benson syndrome, Biparietal Alzheimer disease, PCA]","A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.",,,,,,,,, +GARD:18847,Active,Orphanet,ORPHA:54272,Disorder,[Disease],Hepatocellular adenoma,,Hepatocellular adenoma (HA) is a rare benign tumor of the liver.,,,,,,,,, +GARD:18848,Active,Orphanet,ORPHA:54368,Disorder,[Disease],Sarcocystosis,[Sarcosporidiosis],"A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.",,,,,,,,, +GARD:18849,Active,Orphanet,ORPHA:55655,Disorder,[Disease],Pneumococcal meningitis,,"A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.",,,,,,,,, +GARD:18850,Active,Orphanet,ORPHA:56044,Group of disorders,[Clinical group],Carcinoma of gallbladder and extrahepatic biliary tract,[Carcinoma of gallbladder and EBT],"Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.",,,,,,,,, +GARD:18851,Active,Orphanet,ORPHA:56970,Group of disorders,[Category],Human prion disease,"[TSE, Transmissible spongiform encephalopathy]","A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals.",,,,,,,,, +GARD:18852,Active,Orphanet,ORPHA:57777,Disorder,[Disease],Cirrhotic cardiomyopathy,,"Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.",,,,,,,,, +GARD:18853,Active,Orphanet,ORPHA:57782,Disorder,[Malformation syndrome],Mazabraud syndrome,[Myxoma with fibrous dysplasia],"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.",,,,,,,,, +GARD:18854,Active,Orphanet,ORPHA:58040,Disorder,[Disease],Osteoblastoma,,"A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.",,,,,,,,, +GARD:18855,Active,Orphanet,ORPHA:59315,Disorder,[Malformation syndrome],Rhombencephalosynapsis,,"A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay, ataxia, dysarthria, oculomotor abnormalities, seizures, and involuntary head movements, among others.",,,,,,,,, +GARD:18856,Active,Orphanet,ORPHA:60014,Disorder,[Disease],Argyria,[Silver staining],"A rare dermatosis, which can be either localized or generalized, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).",,,,,,,,, +GARD:18857,Active,Orphanet,ORPHA:63443,Group of disorders,[Category],Rare epithelial tumor of stomach,[Rare gastric epithelial tumor],,,,,,,,,, +GARD:18858,Active,Orphanet,ORPHA:63455,Disorder,[Disease],Paraneoplastic pemphigus,,"A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.",,,,,,,,, +GARD:18859,Active,Orphanet,ORPHA:64542,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Kennedy-Teebi type",[Kennedy-Teebi syndrome],"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.",,,,,,,,, +GARD:1886,Active,Orphanet,ORPHA:98912,Disorder,[Disease],"Late-onset distal myopathy, Markesbery-Griggs type",[ZASP-related myofibrillar myopathy],"A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.",[609452],,,,,"Late-onset distal myopathy, Markesbery-Griggs type",TRUE,FALSE,Active +GARD:18860,Active,Orphanet,ORPHA:64545,Disorder,[Disease],Benign idiopathic neonatal seizures,"[BINS, Benign nonfamilial neonatal seizures]","A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.",,,,,,,,, +GARD:18861,Active,Orphanet,ORPHA:64692,Disorder,[Disease],Oroya fever,"[Bartonellosis due to Bartonella bacilliformis infection, Carrion disease]",,,,,,,,,, +GARD:18862,Active,Orphanet,ORPHA:64694,Disorder,[Disease],Trench fever,[Bartonellosis due to Bartonella quintana infection],"A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.",,,,,,,,, +GARD:18863,Active,Orphanet,ORPHA:64722,Disorder,[Disease],Granulomatous mastitis,[Idiopathic granulomatous mastitis],"A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.",,,,,,,,, +GARD:18864,Active,Orphanet,ORPHA:64741,Disorder,[Disease],Pulmonary blastoma,[Pneumoblastoma],"A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung.",,,,,,,,, +GARD:18865,Active,Orphanet,ORPHA:64743,Subtype of disorder,[Histopathological subtype],Hepatoportal sclerosis,[Obliterative portal venopathy],"A form of portosinusoidal vascular disease characterized histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis.",,,,,,,,, +GARD:18866,Active,Orphanet,ORPHA:64744,Subtype of disorder,[Clinical subtype],IgG4-related thyroid disease,"[Riedel disease, Riedel thyroiditis]","A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.",,,,,,,,, +GARD:18867,Active,Orphanet,ORPHA:65681,Disorder,[Morphological anomaly],Vaginal atresia,,"A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever.",,,,,,,,, +GARD:18868,Active,Orphanet,ORPHA:66518,Disorder,[Disease],Short fifth metacarpals-insulin resistance syndrome,,"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.",,,,,,,,, +GARD:18869,Active,Orphanet,ORPHA:66633,Disorder,[Disease],Sensorineural hearing loss-early graying-essential tremor syndrome,[Sensorineural deafness-early graying-essential tremor syndrome],"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.",,,,,,,,, +GARD:1887,Active,Orphanet,ORPHA:600,Disorder,[Disease],Vocal cord and pharyngeal distal myopathy,"[Distal myopathy with vocal cord weakness, MATR3-related distal myopathy, VCPDM]",Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.,[606070],,,,,Distal myopathy with vocal cord weakness,TRUE,FALSE,Active +GARD:18870,Active,Orphanet,ORPHA:66661,Disorder,[Disease],Mast cell sarcoma,,"Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.",,,,,,,,, +GARD:18871,Active,Orphanet,ORPHA:66662,Disorder,[Disease],Extracutaneous mastocytoma,,"A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.",,,,,,,,, +GARD:18872,Active,Orphanet,ORPHA:67039,Disorder,[Disease],Segmental odontomaxillary dysplasia,,"Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.",,,,,,,,, +GARD:18873,Active,Orphanet,ORPHA:68334,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional coagulation factors defect,"[Rare bleeding disorder due to a constitutional coagulation factors defect, Rare coagulopathy due to a constitutional coagulation factors defect]",,,,,,,,,, +GARD:18874,Active,Orphanet,ORPHA:68335,Group of disorders,[Category],Rare chromosomal anomaly,,,,,,,,,,, +GARD:18875,Active,Orphanet,ORPHA:68336,Group of disorders,[Category],Rare genetic tumor,,,,,,,,,,, +GARD:18876,Active,Orphanet,ORPHA:68341,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:18877,Active,Orphanet,ORPHA:68346,Group of disorders,[Category],Rare genetic skin disease,[Rare genodermatosis],,,,,,,,,, +GARD:18878,Active,Orphanet,ORPHA:68347,Group of disorders,[Category],Tumor of hematopoietic and lymphoid tissues,,,,,,,,,,, +GARD:18879,Active,Orphanet,ORPHA:68354,Group of disorders,[Category],Rare sleep disorder,,,,,,,,,,, +GARD:18880,Active,Orphanet,ORPHA:68361,Group of disorders,[Category],Rare deafness,[Rare hearing loss],,,,,,,,,, +GARD:18881,Active,Orphanet,ORPHA:68362,Group of disorders,[Category],Rare vascular disease,,,,,,,,,,, +GARD:18882,Active,Orphanet,ORPHA:68363,Group of disorders,[Category],Rare dystonia,[Rare dystonic disorder],,,,,,,,,, +GARD:18883,Active,Orphanet,ORPHA:68364,Group of disorders,[Category],Hemoglobinopathy,,,,,,,,,,, +GARD:18884,Active,Orphanet,ORPHA:68366,Group of disorders,[Category],Lysosomal disease,,,,,,,,,,, +GARD:18885,Active,Orphanet,ORPHA:68373,Group of disorders,[Category],Peroxisomal disease,,,,,,,,,,, +GARD:18886,Active,Orphanet,ORPHA:68378,Group of disorders,[Category],Congenital limb malformation,,,,,,,,,,, +GARD:18887,Active,Orphanet,ORPHA:68380,Group of disorders,[Category],Mitochondrial disease,,,,,,,,,,, +GARD:18888,Active,Orphanet,ORPHA:68381,Group of disorders,[Category],Neuromuscular disease,,,,,,,,,,, +GARD:18889,Active,Orphanet,ORPHA:68383,Group of disorders,[Category],Rare constitutional aplastic anemia,,,,,,,,,,, +GARD:1889,Legacy,GARD,,,,,,,,,,,,"Distal primary acidosis, familial",TRUE,FALSE,Active +GARD:18890,Active,Orphanet,ORPHA:68385,Group of disorders,[Category],Neurometabolic disease,,,,,,,,,,, +GARD:18891,Active,Orphanet,ORPHA:68402,Group of disorders,[Category],Rare parkinsonian disorder,[Rare hypokinetic movement disorder],,,,,,,,,, +GARD:18892,Active,Orphanet,ORPHA:68411,Group of disorders,[Category],Rare bone tumor,,,,,,,,,,, +GARD:18893,Active,Orphanet,ORPHA:68415,Group of disorders,[Category],Rare parathyroid disease and phosphocalcic metabolism anomaly,,,,,,,,,,, +GARD:18894,Active,Orphanet,ORPHA:68419,Group of disorders,[Category],Vascular anomaly or angioma,,,,,,,,,,, +GARD:18895,Active,Orphanet,ORPHA:69028,Group of disorders,[Category],Dysostosis with brachydactyly,,"Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.",,,,,,,,, +GARD:18896,Active,Orphanet,ORPHA:69063,Disorder,[Disease],Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,"[Alloimmune neonatal renal disease, FMAIG, Fetomaternal alloimmunization with antenatal glomerulopathies, Neonatal glomerulopathy due to neprilysin alloimmunization, Neonatal membranous glomerulopathy with maternal NEP deficiency, Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency]","A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.",,,,,,,,, +GARD:18897,Active,Orphanet,ORPHA:69736,Disorder,[Disease],Bilateral acute depigmentation of the iris,[BADI],"Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.",,,,,,,,, +GARD:18898,Active,Orphanet,ORPHA:69744,Disorder,[Disease],Circumscribed palmoplantar hypokeratosis,,"Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.",,,,,,,,, +GARD:18899,Active,Orphanet,ORPHA:69745,Disorder,[Disease],Warty dyskeratoma,[Follicular dyskeratoma],"A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.",,,,,,,,, +GARD:189,Legacy,GARD,,,,,,,,,,,,Elliott Ludman Teebi syndrome,TRUE,FALSE,Active +GARD:1890,Legacy,GARD,,,,,,,,,,,,Distichiasis heart congenital anomalies,TRUE,FALSE,Active +GARD:18900,Active,Orphanet,ORPHA:70475,Disorder,[Disease],Radiation proctitis,,"Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.",,,,,,,,, +GARD:18901,Active,Orphanet,ORPHA:99977,Disorder,[Disease],Squamous cell carcinoma of the esophagus,"[ESCC, Esophageal epidermoid carcinoma, Esophageal squamous cell carcinoma]","Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.",[133239],,,,,,,, +GARD:18902,Active,Orphanet,ORPHA:70578,Disorder,[Disease],Adult acute respiratory distress syndrome,[Adult ARDS],"A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.",,,,,,,,, +GARD:18903,Active,Orphanet,ORPHA:70596,Disorder,[Disease],Congenital Epstein-Barr virus infection,"[Antenatal EBV infection, Antenatal Epstein-Barr virus infection, Congenital EBV infection, Mother-to-child transmission of Epstein-Barr virus infection]","A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.",,,,,,,,, +GARD:18904,Active,Orphanet,ORPHA:71198,Group of disorders,[Category],Rare pulmonary hypertension,,,,,,,,,,, +GARD:18905,Active,Orphanet,ORPHA:71202,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional platelet anomaly,"[Rare bleeding disorder due to a constitutional platelet anomaly, Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia, Rare coagulopathy due to a constitutional platelet anomaly, Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:18906,Active,Orphanet,ORPHA:71203,Group of disorders,[Clinical group],Autoimmune thrombocytopenia,,,,,,,,,,, +GARD:18907,Active,Orphanet,ORPHA:71209,Group of disorders,[Category],Rare soft tissue tumor,[Rare mesenchymal tumor],,,,,,,,,, +GARD:18908,Active,Orphanet,ORPHA:71213,Disorder,[Disease],Retinal capillary malformation,,"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.",,,,,,,,, +GARD:18909,Active,Orphanet,ORPHA:71267,Disorder,[Malformation syndrome],Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,[Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome],"A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.",,,,,,,,, +GARD:1891,Active,Orphanet,ORPHA:1685,Disorder,[Disease],Distomatosis,"[Distomiasis, Fluke infection]","A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.",,,,,,Distomatosis,TRUE,FALSE,Active +GARD:18910,Active,Orphanet,ORPHA:71276,Disorder,[Disease],Silent sinus syndrome,[Imploding antrum syndrome],Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.,,,,,,,,, +GARD:18911,Active,Orphanet,ORPHA:71281,Group of disorders,[Category],Rare central nervous system and retinal vascular disease,,,,,,,,,,, +GARD:18912,Active,Orphanet,ORPHA:71505,Disorder,[Disease],Cancer-associated retinopathy,"[CAR syndrome, Paraneoplastic retinopathy]",Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.,,,,,,,,, +GARD:18913,Active,Orphanet,ORPHA:71518,Disorder,[Disease],Benign paroxysmal torticollis of infancy,,"A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood.",,,,,,,,, +GARD:18914,Active,Orphanet,ORPHA:71519,Disorder,[Clinical syndrome],Psychogenic movement disorders,[Psychogenic dystonia],"A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.",,,,,,,,, +GARD:18915,Active,Orphanet,ORPHA:71859,Group of disorders,[Category],Rare genetic neurological disorder,,,,,,,,,,, +GARD:18916,Active,Orphanet,ORPHA:71862,Group of disorders,[Category],Inherited retinal disorder,[Retinal dystrophy],,,,,,,,,, +GARD:18917,Active,Orphanet,ORPHA:71864,Group of disorders,[Category],Muscular channelopathy,,,,,,,,,,, +GARD:18918,Active,Orphanet,ORPHA:73014,Group of disorders,[Category],Intractable diarrhea of infancy,[IDI],"Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.",,,,,,,,, +GARD:18919,Active,Orphanet,ORPHA:73223,Disorder,[Malformation syndrome],Global developmental delay-osteopenia-ectodermal defect syndrome,,"A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.",,,,,,,,, +GARD:18920,Active,Orphanet,ORPHA:73224,Disorder,[Disease],Kidney tubulopathy-dilated cardiomyopathy syndrome,,"A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.",,,,,,,,, +GARD:18921,Active,Orphanet,ORPHA:73230,Disorder,[Disease],Ossification anomalies-psychomotor developmental delay syndrome,,"A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.",,,,,,,,, +GARD:18922,Active,Orphanet,ORPHA:73245,Disorder,[Malformation syndrome],Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,,"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.",,,,,,,,, +GARD:18923,Active,Orphanet,ORPHA:73246,Disorder,[Malformation syndrome],Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.",,,,,,,,, +GARD:18924,Active,Orphanet,ORPHA:75110,Group of disorders,[Category],Myiasis,,,,,,,,,,, +GARD:18925,Active,Orphanet,ORPHA:75378,Disorder,[Disease],Oligocone trichromacy,[Oligocone syndrome],"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.",,,,,,,,, +GARD:18926,Active,Orphanet,ORPHA:75389,Disorder,[Malformation syndrome],Brain malformation-congenital heart disease-postaxial polydactyly syndrome,[Goossens-Devriendt syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.",,,,,,,,, +GARD:18927,Active,Orphanet,ORPHA:75508,Disorder,[Malformation syndrome],Angioosteohypotrophic syndrome,"[Phlebectatic osteohypoplastic angiodysplasia, Servelle-Martorell syndrome]","A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.",,,,,,,,, +GARD:18928,Active,Orphanet,ORPHA:75565,Disorder,[Disease],Tropical endomyocardial fibrosis,"[Davies disease, TEMF]","Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.",,,,,,,,, +GARD:18929,Active,Orphanet,ORPHA:75566,Disorder,[Disease],Loeffler endocarditis,[Eosinophilic endocarditis],"A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.",,,,,,,,, +GARD:18930,Active,Orphanet,ORPHA:75567,Disorder,[Clinical syndrome],Primary progressive freezing gait,[PPFG],"Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.",,,,,,,,, +GARD:18931,Active,Orphanet,ORPHA:75857,Disorder,[Malformation syndrome],6q terminal deletion syndrome,,"A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.",,,,,,,,, +GARD:18932,Active,Orphanet,ORPHA:77240,Group of disorders,[Category],Primary lymphedema,,"Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.",,,,,,,,, +GARD:18933,Active,Orphanet,ORPHA:77300,Disorder,[Malformation syndrome],Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.",,,,,,,,, +GARD:18934,Active,Orphanet,ORPHA:77301,Disorder,[Malformation syndrome],Monosomy 9q22.3,[Microdeletion 9q22.3],"Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.",,,,,,,,, +GARD:18935,Active,Orphanet,ORPHA:77828,Group of disorders,[Category],Genetic obesity,,,,,,,,,,, +GARD:18936,Active,Orphanet,ORPHA:77830,Group of disorders,[Category],Rare genetic odontologic disease,,,,,,,,,,, +GARD:18937,Active,Orphanet,ORPHA:79062,Group of disorders,[Category],Disorder of amino acid and other organic acid metabolism,,,,,,,,,,, +GARD:18938,Active,Orphanet,ORPHA:79097,Disorder,[Disease],Folinic acid-responsive seizures,,"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.",,,,,,,,, +GARD:18939,Active,Orphanet,ORPHA:79098,Disorder,[Disease],Sympathetic ophthalmia,[Sympathetic uveitis],Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.,,,,,,,,, +GARD:1894,Active,Orphanet,ORPHA:3439,Disorder,[Malformation syndrome],Von Voss-Cherstvoy syndrome,"[DK phocomelia syndrome, Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome]","Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.",[223340],,,,,DK phocomelia syndrome,TRUE,FALSE,Active +GARD:18940,Active,Orphanet,ORPHA:79099,Disorder,[Disease],Interstitial granulomatous dermatitis with arthritis,"[Ackerman dermatitis syndrome, Ackerman syndrome, IGDA]","Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.",,,,,,,,, +GARD:18941,Active,Orphanet,ORPHA:79105,Disorder,[Disease],Myxofibrosarcoma,"[Fibromyxosarcoma, Myxoid malignant fibrous histiocytoma]","A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.",,,,,,,,, +GARD:18942,Active,Orphanet,ORPHA:79127,Disorder,[Disease],Respiratory bronchiolitis-interstitial lung disease syndrome,[RB-ILD],"Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.",,,,,,,,, +GARD:18943,Active,Orphanet,ORPHA:79129,Disorder,[Malformation syndrome],Trichodysplasia-amelogenesis imperfecta syndrome,,A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.,,,,,,,,, +GARD:18944,Active,Orphanet,ORPHA:79138,Disorder,[Disease],Bickerstaff brainstem encephalitis,,"Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).",,,,,,,,, +GARD:18945,Active,Orphanet,ORPHA:79158,Group of disorders,[Category],Cerebral organic aciduria,,,,,,,,,,, +GARD:18946,Active,Orphanet,ORPHA:79161,Group of disorders,[Category],Disorder of carbohydrate metabolism,,,,,,,,,,, +GARD:18947,Active,Orphanet,ORPHA:79163,Group of disorders,[Category],Classic organic aciduria,,,,,,,,,,, +GARD:18948,Active,Orphanet,ORPHA:79166,Group of disorders,[Category],Disorder of amino acid absorption and transport,,,,,,,,,,, +GARD:18949,Active,Orphanet,ORPHA:79168,Group of disorders,[Category],Disorder of bile acid synthesis,,"A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.",,,,,,,,, +GARD:1895,Legacy,GARD,,,,,,,,,,,,Dobrow syndrome,TRUE,FALSE,Active +GARD:18950,Active,Orphanet,ORPHA:79169,Group of disorders,[Category],Disorder of neurotransmitter metabolism and transport,,,,,,,,,,, +GARD:18951,Active,Orphanet,ORPHA:79171,Group of disorders,[Category],Disorder of cobalamin metabolism and transport,,,,,,,,,,, +GARD:18952,Active,Orphanet,ORPHA:79172,Group of disorders,[Clinical group],Creatine deficiency syndrome,"[CCDS, CDS, Cerebral creatine deficiency syndrome]","Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.",,,,,,,,, +GARD:18953,Active,Orphanet,ORPHA:79173,Group of disorders,[Category],Disorder of methionine cycle and sulfur amino acid metabolism,[Cytosolic methyl group transfer or sulfur amino acid metabolism disorder],,,,,,,,,, +GARD:18954,Active,Orphanet,ORPHA:79174,Group of disorders,[Category],Disorder of fatty acid oxidation and ketone body metabolism,,,,,,,,,,, +GARD:18955,Active,Orphanet,ORPHA:79175,Group of disorders,[Category],Disorder of gamma-aminobutyric acid metabolism,[Disorder of GABA metabolism],,,,,,,,,, +GARD:18956,Active,Orphanet,ORPHA:79177,Group of disorders,[Category],Gluconeogenesis disorder,,,,,,,,,,, +GARD:18957,Active,Orphanet,ORPHA:79178,Group of disorders,[Category],Glucose transport disorder,,,,,,,,,,, +GARD:18958,Active,Orphanet,ORPHA:79179,Group of disorders,[Category],Disorder of glycerol metabolism,,,,,,,,,,, +GARD:18959,Active,Orphanet,ORPHA:79181,Group of disorders,[Category],Disorder of histidine metabolism,,,,,,,,,,, +GARD:1896,Active,Orphanet,ORPHA:2014,Group of disorders,[Clinical group],Cleft palate,,A fissure type embryopathy that affects the soft and hard palate to varying degrees.,[119540],,,,,Dominant cleft palate,TRUE,FALSE,Active +GARD:18960,Active,Orphanet,ORPHA:79183,Group of disorders,[Category],Disorder of ketolysis,,,,,,,,,,, +GARD:18961,Active,Orphanet,ORPHA:79185,Group of disorders,[Category],Disorder of ornithine or proline metabolism,,,,,,,,,,, +GARD:18962,Active,Orphanet,ORPHA:79186,Group of disorders,[Category],Disorder of pentose phosphate metabolism,,,,,,,,,,, +GARD:18963,Active,Orphanet,ORPHA:79187,Group of disorders,[Category],Disorder of peptide metabolism,,,,,,,,,,, +GARD:18964,Active,Orphanet,ORPHA:79190,Group of disorders,[Category],Disorder of phenylalanin or tyrosine metabolism,,,,,,,,,,, +GARD:18965,Active,Orphanet,ORPHA:79191,Group of disorders,[Category],Disorder of purine metabolism,,,,,,,,,,, +GARD:18966,Active,Orphanet,ORPHA:79192,Group of disorders,[Category],Disorder of pyridoxine metabolism,,,,,,,,,,, +GARD:18967,Active,Orphanet,ORPHA:79193,Group of disorders,[Category],Disorder of pyrimidine metabolism,,,,,,,,,,, +GARD:18968,Active,Orphanet,ORPHA:79194,Group of disorders,[Category],Disorder of serine or glycine metabolism,,,,,,,,,,, +GARD:18969,Active,Orphanet,ORPHA:79195,Group of disorders,[Category],Sterol biosynthesis disorder,,,,,,,,,,, +GARD:1897,Legacy,GARD,,,,,,,,,,,,Dominant ichthyosis vulgaris,TRUE,FALSE,Retired +GARD:18970,Active,Orphanet,ORPHA:79196,Group of disorders,[Category],Disorder of the gamma-glutamyl cycle,,,,,,,,,,, +GARD:18971,Active,Orphanet,ORPHA:79197,Group of disorders,[Category],Disorder of branched-chain amino acid metabolism,,,,,,,,,,, +GARD:18972,Active,Orphanet,ORPHA:79200,Group of disorders,[Category],Disorder of energy metabolism,,,,,,,,,,, +GARD:18973,Active,Orphanet,ORPHA:79201,Group of disorders,[Category],Glycogen storage disease,"[GSD, Glycogenosis]",,,,,,,,,, +GARD:18974,Active,Orphanet,ORPHA:79207,Group of disorders,[Category],Disorder of lysosomal amino acid transport,,,,,,,,,,, +GARD:18975,Active,Orphanet,ORPHA:79212,Group of disorders,[Category],Mucolipidosis,,,,,,,,,,, +GARD:18976,Active,Orphanet,ORPHA:79214,Group of disorders,[Category],Disorder of biogenic amine metabolism and transport,,,,,,,,,,, +GARD:18977,Active,Orphanet,ORPHA:79215,Group of disorders,[Category],Oligosaccharidosis,,,,,,,,,,, +GARD:18978,Active,Orphanet,ORPHA:79217,Group of disorders,[Category],Other metabolic disease with skin involvement,,,,,,,,,,, +GARD:18979,Active,Orphanet,ORPHA:79219,Group of disorders,[Category],Metabolic disease involving other neurotransmitter deficiency,,,,,,,,,,, +GARD:1898,Active,Orphanet,ORPHA:98995,Subtype of disorder,[Clinical subtype],Early-onset zonular cataract,,,"[613763, 609376, 605728, 116400, 610019, 607304]",,,,,Early-onset zonular cataract,TRUE,FALSE,Active +GARD:18980,Active,Orphanet,ORPHA:79224,Group of disorders,[Category],Disorder of purine or pyrimidine metabolism,,,,,,,,,,, +GARD:18981,Active,Orphanet,ORPHA:79226,Group of disorders,[Category],Sterol metabolism disorder,,,,,,,,,,, +GARD:18982,Active,Orphanet,ORPHA:79254,Subtype of disorder,[Clinical subtype],Classic phenylketonuria,[Classic PKU],"A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.",,,,,,,,, +GARD:18983,Active,Orphanet,ORPHA:79298,Group of disorders,[Clinical group],Diazoxide-resistant focal hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form]","A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide.",,,,,,,,, +GARD:18984,Active,Orphanet,ORPHA:79353,Group of disorders,[Category],Epidermal disease,,,,,,,,,,, +GARD:18985,Active,Orphanet,ORPHA:79354,Group of disorders,[Category],Ichthyosis,,,,,,,,,,, +GARD:18986,Active,Orphanet,ORPHA:79355,Group of disorders,[Category],Erythrokeratoderma,,,,,,,,,,, +GARD:18987,Active,Orphanet,ORPHA:79356,Group of disorders,[Category],Acrokeratoderma,,,,,,,,,,, +GARD:18988,Active,Orphanet,ORPHA:79357,Group of disorders,[Category],Hereditary palmoplantar keratoderma,"[Hereditary PPK, Hereditary keratosis palmoplantaris, Hereditary palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:18989,Active,Orphanet,ORPHA:79358,Group of disorders,[Category],Porokeratosis,,,,,,,,,,, +GARD:1899,Active,Orphanet,ORPHA:2143,Disorder,[Malformation syndrome],Donnai-Barrow syndrome,"[DBS/FOAR syndrome, Diaphragmatic hernia-exomphalos-hypertelorism syndrome, Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome, FOAR syndrome, Facio-oculo-acoustico-renal syndrome, Holmes-Schepens syndrome, Syndrome of ocular and facial anomalies, telecanthus and deafness, Syndrome of ocular and facial anomalies, telecanthus and hearing loss]","A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.",[222448],,,,,Donnai-Barrow syndrome,TRUE,FALSE,Active +GARD:18990,Active,Orphanet,ORPHA:79359,Group of disorders,[Category],Other epidermal disorder,,,,,,,,,,, +GARD:18991,Active,Orphanet,ORPHA:79360,Group of disorders,[Category],Other genetic epidermal disease,,,,,,,,,,, +GARD:18992,Active,Orphanet,ORPHA:79361,Group of disorders,[Category],Inherited epidermolysis bullosa,"[Epidermolysis bullosa hereditaria, Hereditary epidermolysis bullosa]",Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.,,,,,,,,, +GARD:18993,Active,Orphanet,ORPHA:79362,Group of disorders,[Category],Epidermal appendage anomaly,,,,,,,,,,, +GARD:18994,Active,Orphanet,ORPHA:79363,Group of disorders,[Category],Hair anomaly,,,,,,,,,,, +GARD:18995,Active,Orphanet,ORPHA:79364,Group of disorders,[Category],Alopecia,,,,,,,,,,, +GARD:18996,Active,Orphanet,ORPHA:79365,Group of disorders,[Category],Rare disorder with hypertrichosis,,,,,,,,,,, +GARD:18997,Active,Orphanet,ORPHA:79366,Group of disorders,[Category],Isolated hair shaft abnormality,,,,,,,,,,, +GARD:18998,Active,Orphanet,ORPHA:79367,Group of disorders,[Category],Syndromic hair shaft abnormality,,,,,,,,,,, +GARD:18999,Active,Orphanet,ORPHA:79368,Group of disorders,[Category],Nail anomaly,,,,,,,,,,, +GARD:19,Active,Orphanet,ORPHA:1675,Disorder,[Disease],Dihydropyrimidine dehydrogenase deficiency,[Familial pyrimidinemia],"A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.",[274270],,,,,Dihydropyrimidine dehydrogenase deficiency,FALSE,FALSE,Active +GARD:19000,Active,Orphanet,ORPHA:79369,Group of disorders,[Category],Isolated nail anomaly,,,,,,,,,,, +GARD:19001,Active,Orphanet,ORPHA:79370,Group of disorders,[Category],Syndromic nail anomaly,,,,,,,,,,, +GARD:19002,Active,Orphanet,ORPHA:79372,Group of disorders,[Category],Sebaceous gland anomaly,,,,,,,,,,, +GARD:19003,Active,Orphanet,ORPHA:79374,Group of disorders,[Category],Pigmentation anomaly of the skin,,,,,,,,,,, +GARD:19004,Active,Orphanet,ORPHA:79375,Group of disorders,[Category],Hyperpigmentation of the skin,,,,,,,,,,, +GARD:19005,Active,Orphanet,ORPHA:79376,Group of disorders,[Category],Hypopigmentation of the skin,,,,,,,,,,, +GARD:19006,Active,Orphanet,ORPHA:79377,Group of disorders,[Category],Dermis disorder,,,,,,,,,,, +GARD:19007,Active,Orphanet,ORPHA:79378,Group of disorders,[Category],Dermis elastic tissue disorder,,,,,,,,,,, +GARD:19008,Active,Orphanet,ORPHA:79379,Group of disorders,[Category],Skin vascular disease,,,,,,,,,,, +GARD:19009,Active,Orphanet,ORPHA:79380,Group of disorders,[Category],Mixed dermis disorder,,,,,,,,,,, +GARD:19010,Active,Orphanet,ORPHA:79381,Group of disorders,[Category],Other dermis disorder,,,,,,,,,,, +GARD:19011,Active,Orphanet,ORPHA:79382,Group of disorders,[Category],Subcutaneous tissue disease,,,,,,,,,,, +GARD:19012,Active,Orphanet,ORPHA:79384,Group of disorders,[Category],Rare urticaria,,,,,,,,,,, +GARD:19013,Active,Orphanet,ORPHA:79385,Group of disorders,[Category],Unclassified genetic skin disorder,,,,,,,,,,, +GARD:19014,Active,Orphanet,ORPHA:79386,Group of disorders,[Category],Rare skin tumor or hamartoma,,,,,,,,,,, +GARD:19015,Active,Orphanet,ORPHA:79387,Group of disorders,[Category],Metabolic disease with skin involvement,,,,,,,,,,, +GARD:19016,Active,Orphanet,ORPHA:79388,Group of disorders,[Category],Mucopolysaccharidosis with skin involvement,[MPS with skin involvement],,,,,,,,,, +GARD:19017,Active,Orphanet,ORPHA:79389,Group of disorders,[Category],Premature aging,,,,,,,,,,, +GARD:19018,Active,Orphanet,ORPHA:79390,Group of disorders,[Category],Rare photodermatosis,[Rare skin photosensitivity],,,,,,,,,, +GARD:19019,Active,Orphanet,ORPHA:79391,Group of disorders,[Category],Immune deficiency with skin involvement,,,,,,,,,,, +GARD:1902,Active,Orphanet,ORPHA:101150,Disorder,[Disease],Autosomal recessive dopa-responsive dystonia,"[Autosomal recessive Segawa syndrome, DYT5b, Tyrosine hydroxylase deficiency, Tyrosine hydroxylase-deficient dopa-responsive dystonia]",A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.,[605407],,,,,Tyrosine hydroxylase deficiency,TRUE,FALSE,Active +GARD:19020,Active,Orphanet,ORPHA:79467,Subtype of disorder,[Clinical subtype],Verrucous nevus,,,,,,,,,,, +GARD:19021,Active,Orphanet,ORPHA:79479,Disorder,[Disease],Pemphigus vegetans,,"A rare autoimmune bullous skin disease characterized by mucocutaneous bullae with subsequent erosion and formation of vegetative plaques, predominantly affecting intertriginous areas and the oral mucosa. Two clinical forms of the disease are recognized: the Hallopeau type, which presents an indolent course with pustules healing as vegetative plaques and frequent lack of involvement of the oral mucosa, and the Neumann type, which takes a more severe, refractory course with vegetations developing during an eruption of vesiculobullous lesions and involvement of the oral mucosa. Serum analysis reveals antibodies against desmoglein 1 and 3.",,,,,,,,, +GARD:19022,Active,Orphanet,ORPHA:79480,Disorder,[Disease],Pemphigus erythematosus,"[Seborrheic pemphigus, Senear-Usher syndrome]","A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.",,,,,,,,, +GARD:19023,Active,Orphanet,ORPHA:79483,Subtype of disorder,[Clinical subtype],Phakomatosis cesioflammea,[Phakomatosis pigmentovascularis type 2],,,,,,,,,, +GARD:19024,Active,Orphanet,ORPHA:79484,Subtype of disorder,[Clinical subtype],Phakomatosis cesiomarmorata,[Phakomatosis pigmentovascularis type 5],,,,,,,,,, +GARD:19025,Active,Orphanet,ORPHA:79485,Subtype of disorder,[Clinical subtype],Phakomatosis spilorosea,[Phakomatosis pigmentovascularis type 3],,,,,,,,,, +GARD:19026,Active,Orphanet,ORPHA:79492,Disorder,[Disease],Pili gemini,[Pili multigemini],"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.",,,,,,,,, +GARD:19027,Active,Orphanet,ORPHA:79651,Subtype of disorder,[Clinical subtype],Mild hyperphenylalaninemia,"[Mild HPA, Non-PKU HPA, mHPA]","A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.",,,,,,,,, +GARD:19028,Active,Orphanet,ORPHA:79669,Group of disorders,[Clinical group],Autoimmune bullous skin disease,,,,,,,,,,, +GARD:19029,Active,Orphanet,ORPHA:83001,Group of disorders,[Category],Urogenital tract malformation,,,,,,,,,,, +GARD:1903,Active,Orphanet,ORPHA:230,Disorder,[Disease],Dopamine beta-hydroxylase deficiency,[DBH deficiency],A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.,[223360],,,,,Dopamine beta hydroxylase deficiency,TRUE,FALSE,Active +GARD:19030,Active,Orphanet,ORPHA:83312,Disorder,[Disease],Rickettsialpox,,"A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria Rickettsia akari characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days.",,,,,,,,, +GARD:19031,Active,Orphanet,ORPHA:83313,Disorder,[Disease],Boutonneuse fever,[Mediterranean spotted fever],"A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.",,,,,,,,, +GARD:19032,Active,Orphanet,ORPHA:83314,Disorder,[Disease],Epidemic typhus,,"A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.",,,,,,,,, +GARD:19033,Active,Orphanet,ORPHA:83315,Disorder,[Disease],Murine typhus,"[Endemic typhus, Flea-borne typhus]","A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.",,,,,,,,, +GARD:19034,Active,Orphanet,ORPHA:83316,Disorder,[Disease],Pseudotyphus of California,,"Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.",,,,,,,,, +GARD:19035,Active,Orphanet,ORPHA:83317,Disorder,[Disease],Scrub typhus,"[Tsutsugamushi disease, Tsutsugamushi fever]",Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.,,,,,,,,, +GARD:19036,Active,Orphanet,ORPHA:83450,Disorder,[Disease],Regional odontodysplasia,[Ghost teeth],Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.,,,,,,,,, +GARD:19037,Active,Orphanet,ORPHA:83453,Disorder,[Disease],Vulvovaginal gingival syndrome,,"A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.",,,,,,,,, +GARD:19038,Active,Orphanet,ORPHA:83465,Disorder,[Disease],Narcolepsy type 2,[Narcolepsy without cataplexy],"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.",,,,,,,,, +GARD:19039,Active,Orphanet,ORPHA:83468,Disorder,[Disease],Solitary bone cyst,[Unicameral bone cyst],"A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.",,,,,,,,, +GARD:1904,Active,Orphanet,ORPHA:99796,Disorder,[Morphological anomaly],Subcortical band heterotopia,[Subcortical laminar heterotopia],"A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.","[600348, 300067, 607432]",,,,,Subcortical band heterotopia,TRUE,FALSE,Active +GARD:19040,Active,Orphanet,ORPHA:83482,Disorder,[Disease],Mycoplasma encephalitis,,"Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).",,,,,,,,, +GARD:19041,Active,Orphanet,ORPHA:83484,Disorder,[Disease],St. Louis encephalitis,[Saint Louis encephalitis],"An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.",,,,,,,,, +GARD:19042,Active,Orphanet,ORPHA:83595,Disorder,[Disease],Colorado tick fever,"[American mountain fever, Colorado tick encephalitis, Colorado tick-borne disease, Mountain fever, Mountain tick fever]","An acute arboviral infection caused by a Coltivirus transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.",,,,,,,,, +GARD:19043,Active,Orphanet,ORPHA:83616,Disorder,[Disease],Rubella panencephalitis,,"A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.",,,,,,,,, +GARD:19044,Active,Orphanet,ORPHA:83619,Disorder,[Malformation syndrome],Macrostomia-preauricular tags-external ophthalmoplegia syndrome,,"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.",,,,,,,,, +GARD:19045,Active,Orphanet,ORPHA:83628,Disorder,[Malformation syndrome],LUMBAR syndrome,"[Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome, PELVIS syndrome, Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome, SACRAL syndrome]","A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.",,,,,,,,, +GARD:19046,Active,Orphanet,ORPHA:84065,Disorder,[Disease],Idiopathic malabsorption due to bile acid synthesis defects,[Idiopathic bile acid malabsorption],A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.,,,,,,,,, +GARD:19047,Active,Orphanet,ORPHA:84085,Disorder,[Disease],Hinman syndrome,"[HAS, HS, Hinman-Allen syndrome, Non-neurogenic neurogenic bladder, Occult neuropathic bladder]",Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.,,,,,,,,, +GARD:19048,Active,Orphanet,ORPHA:84087,Disorder,[Disease],Collagen type III glomerulopathy,[Collagenofibrotic glomerulopathy],"A rare non-immune-mediated glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. Progression to end-stage kidney failure is possible.",,,,,,,,, +GARD:19049,Active,Orphanet,ORPHA:85168,Disorder,[Malformation syndrome],Craniofacial conodysplasia,,"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.",,,,,,,,, +GARD:1905,Legacy,GARD,,,,,,,,,,,,Double discordia,TRUE,FALSE,Active +GARD:19050,Active,Orphanet,ORPHA:85175,Disorder,[Malformation syndrome],Astley-Kendall dysplasia,,"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.",,,,,,,,, +GARD:19051,Active,Orphanet,ORPHA:85198,Disorder,[Malformation syndrome],Dysspondyloenchondromatosis,,"Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.",,,,,,,,, +GARD:19052,Active,Orphanet,ORPHA:85200,Disorder,[Malformation syndrome],Ischiovertebral syndrome,"[Ischiospinal dysostosis, Ischiovertebral dysplasia]","Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.",,,,,,,,, +GARD:19053,Active,Orphanet,ORPHA:85317,Disorder,[Malformation syndrome],X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.",,,,,,,,, +GARD:19054,Active,Orphanet,ORPHA:85319,Disorder,[Malformation syndrome],X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,,"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.",,,,,,,,, +GARD:19055,Active,Orphanet,ORPHA:85320,Disorder,[Malformation syndrome],X-linked intellectual disability-macrocephaly-macroorchidism syndrome,[Johnson syndrome],"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.",,,,,,,,, +GARD:19056,Active,Orphanet,ORPHA:85322,Disorder,[Malformation syndrome],"X-linked intellectual disability, Pai type",,"A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.",,,,,,,,, +GARD:19057,Active,Orphanet,ORPHA:85323,Disorder,[Disease],"X-linked intellectual disability, Seemanova type",,"X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.",,,,,,,,, +GARD:19058,Active,Orphanet,ORPHA:85325,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stevenson type",,"X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.",,,,,,,,, +GARD:19059,Active,Orphanet,ORPHA:85326,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stoll type",,"X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.",,,,,,,,, +GARD:1906,Legacy,GARD,,,,,,,,,,,,Double fingernail of fifth finger,TRUE,FALSE,Active +GARD:19060,Active,Orphanet,ORPHA:85327,Disorder,[Disease],X-linked intellectual disability-acromegaly-hyperactivity syndrome,,"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.",,,,,,,,, +GARD:19061,Active,Orphanet,ORPHA:85334,Disorder,[Disease],"X-linked neurodegenerative syndrome, Bertini type",,"An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.",,,,,,,,, +GARD:19062,Active,Orphanet,ORPHA:85336,Disorder,[Disease],"X-linked neurodegenerative syndrome, Hamel type",,"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.",,,,,,,,, +GARD:19063,Active,Orphanet,ORPHA:85338,Disorder,[Disease],X-linked intellectual disability-ataxia-apraxia syndrome,,"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:19064,Active,Orphanet,ORPHA:85435,Disorder,[Disease],Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,"[Juvenile idiopathic rheumatoid factor-positive polyarthritis, Juvenile polyarthritis with rheumatoid factor, Rheumatoid factor-positive polyarticular JIA]",A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.,,,,,,,,, +GARD:19065,Active,Orphanet,ORPHA:85446,Disorder,[Disease],Wild type ABeta2M amyloidosis,"[ABeta2Mwt amyloidosis, Dialysis-related amyloidosis, Dialysis-related arthropathy, Wild type ABeta2-microglobulinic amyloidosis]","A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.",,,,,,,,, +GARD:19066,Active,Orphanet,ORPHA:86797,Disorder,[Disease],Atypical lichen myxedematosus,[Intermediate lichen myxedematosus],"An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.",,,,,,,,, +GARD:19067,Active,Orphanet,ORPHA:86821,Disorder,[Malformation syndrome],Lissencephaly type 3-familial fetal akinesia sequence syndrome,,"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).",,,,,,,,, +GARD:19068,Active,Orphanet,ORPHA:86823,Group of disorders,[Clinical group],Lissencephaly with cerebellar hypoplasia,[LCH],"Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.",,,,,,,,, +GARD:19069,Active,Orphanet,ORPHA:86836,Group of disorders,[Clinical group],Refractory cytopenia with multilineage dysplasia,,Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.,,,,,,,,, +GARD:1907,Active,Orphanet,ORPHA:3427,Disorder,[Morphological anomaly],Double outlet left ventricle,[DOLV],"Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.",,,,,,Double outlet left ventricle,TRUE,FALSE,Active +GARD:19070,Active,Orphanet,ORPHA:86839,Disorder,[Disease],Refractory anemia with excess blasts,[RAEB],Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.,,,,,,,,, +GARD:19071,Active,Orphanet,ORPHA:86849,Disorder,[Disease],Acute basophilic leukemia,,"A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.",,,,,,,,, +GARD:19072,Active,Orphanet,ORPHA:86854,Disorder,[Disease],Splenic marginal zone lymphoma,[SMZL],"Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.",,,,,,,,, +GARD:19073,Active,Orphanet,ORPHA:86861,Disorder,[Disease],Non-amyloid monoclonal immunoglobulin deposition disease,"[Non-amyloid MIDD, Randall disease]","A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.",,,,,,,,, +GARD:19074,Active,Orphanet,ORPHA:86864,Disorder,[Disease],Heavy chain disease,[HCD],Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.,,,,,,,,, +GARD:19075,Active,Orphanet,ORPHA:86867,Disorder,[Disease],Nodal marginal zone B-cell lymphoma,[NMZL],"Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.",,,,,,,,, +GARD:19076,Active,Orphanet,ORPHA:86875,Disorder,[Disease],Adult T-cell leukemia/lymphoma,[ATLL],"A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor αβ. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.",,,,,,,,, +GARD:19077,Active,Orphanet,ORPHA:86882,Disorder,[Disease],Hepatosplenic T-cell lymphoma,,"A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response.",,,,,,,,, +GARD:19078,Active,Orphanet,ORPHA:86885,Disorder,[Disease],Primary cutaneous peripheral T-cell lymphoma not otherwise specified,"[Primary cutaneous peripheral T-cell lymphoma NOS, Primary cutaneous unspecified peripheral T-cell lymphoma]","An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.",,,,,,,,, +GARD:19079,Active,Orphanet,ORPHA:86893,Disorder,[Disease],Nodular lymphocyte predominant Hodgkin lymphoma,[NLPHL],Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.,,,,,,,,, +GARD:1908,Active,Orphanet,ORPHA:3426,Disorder,[Morphological anomaly],Double outlet right ventricle,[DORV],"A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.",[217095],,,,,Double outlet right ventricle,TRUE,FALSE,Active +GARD:19080,Active,Orphanet,ORPHA:86896,Disorder,[Disease],Histiocytic sarcoma,,"A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response.",,,,,,,,, +GARD:19081,Active,Orphanet,ORPHA:86902,Disorder,[Disease],Follicular dendritic cell sarcoma,,"A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia.",,,,,,,,, +GARD:19082,Active,Orphanet,ORPHA:86903,Disorder,[Disease],Dendritic cell sarcoma not otherwise specified,,"A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.",,,,,,,,, +GARD:19083,Active,Orphanet,ORPHA:86904,Disorder,[Disease],Methotrexate-associated lymphoproliferative disorders,"[MTX-LPD, MTX-associated lymphoproliferative disorders]","Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.",,,,,,,,, +GARD:19084,Active,Orphanet,ORPHA:86906,Disorder,[Disease],Hypothalamic hamartomas with gelastic seizures,,"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.",,,,,,,,, +GARD:19085,Active,Orphanet,ORPHA:86908,Disorder,[Disease],Idiopathic hemiconvulsion-hemiplegia syndrome,"[HHE syndrome, Hemiconvulsion-hemiplegia-epilepsy syndrome, IHHS]","A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.",,,,,,,,, +GARD:19086,Active,Orphanet,ORPHA:86909,Disorder,[Disease],Myoclonic epilepsy of infancy,"[Benign myoclonic epilepsy of infancy, Benign myoclonus epilepsy of infancy]","A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.",,,,,,,,, +GARD:19087,Active,Orphanet,ORPHA:86911,Disorder,[Disease],Epilepsy with myoclonic absences,,"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.",,,,,,,,, +GARD:19088,Active,Orphanet,ORPHA:86913,Disorder,[Malformation syndrome],Myoclonic epilepsy in non-progressive encephalopathies,"[Myoclonic status in non-progressive encephalopathies, Myoclonus epilepsy in non-progressive encephalopathies]","Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.",,,,,,,,, +GARD:19089,Active,Orphanet,ORPHA:86918,Disorder,[Disease],Diffuse palmoplantar keratoderma-acrocyanosis syndrome,[Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome],Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.,,,,,,,,, +GARD:19090,Active,Orphanet,ORPHA:87277,Group of disorders,[Category],Rare intellectual disability,,,,,,,,,,, +GARD:19091,Active,Orphanet,ORPHA:87884,Disorder,[Disease],Non-syndromic genetic deafness,"[Isolated genetic deafness, Isolated genetic hearing loss, Non-syndromic genetic hearing loss]","Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.",,,,,,,,, +GARD:19092,Active,Orphanet,ORPHA:88643,Disorder,[Disease],Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,,"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.",,,,,,,,, +GARD:19093,Active,Orphanet,ORPHA:88660,Disorder,[Disease],Hypertension due to gain-of-function mutations in the mineralocorticoid receptor,"[Early-onset hypertension with exacerbation in pregnancy, Pseudohyperaldosteronism type 2]","Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.",,,,,,,,, +GARD:19094,Active,Orphanet,ORPHA:88991,Group of disorders,[Category],Rare congenital non-syndromic heart malformation,,,,,,,,,,, +GARD:19095,Active,Orphanet,ORPHA:88993,Group of disorders,[Category],Esophageal malformation,,,,,,,,,,, +GARD:19096,Active,Orphanet,ORPHA:89043,Group of disorders,[Category],Rare dementia,,,,,,,,,,, +GARD:19097,Active,Orphanet,ORPHA:90002,Disorder,[Disease],Undifferentiated connective tissue syndrome,[UCTD],"A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.",,,,,,,,, +GARD:19098,Active,Orphanet,ORPHA:90003,Disorder,[Disease],Inflammatory pseudotumor of the liver,,"A rare benign liver tumor characterized by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumor is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumor of the liver and lymphoplasmacytic inflammatory pseudotumor of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases.",,,,,,,,, +GARD:19099,Active,Orphanet,ORPHA:90021,Disorder,[Disease],Radiation myelitis,,"Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.",,,,,,,,, +GARD:191,Legacy,GARD,,,,,,,,,,,,Kashani Strom Utley syndrome,TRUE,FALSE,Active +GARD:1910,Active,Orphanet,ORPHA:3411,Disorder,[Malformation syndrome],Double uterus-hemivagina-renal agenesis syndrome,"[Double uterus and obstructed hemivagina syndrome, Herlyn-Werner syndrome, OHVIRA syndrome, Obstructed hemivagina and ipsilateral renal anomaly, Wunderlich syndrome]","A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.",[192050],,,,,Double uterus-hemivagina-renal agenesis,TRUE,FALSE,Active +GARD:19100,Active,Orphanet,ORPHA:90025,Group of disorders,[Category],Non-syndromic syndactyly,,"A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type.",,,,,,,,, +GARD:19101,Active,Orphanet,ORPHA:90036,Disorder,[Disease],Mixed-type autoimmune hemolytic anemia,[Mixed AIHA],"Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.",,,,,,,,, +GARD:19102,Active,Orphanet,ORPHA:90037,Disorder,[Disease],Drug-induced autoimmune hemolytic anemia,[Drug-induced AIHA],"Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.",,,,,,,,, +GARD:19103,Active,Orphanet,ORPHA:90039,Disorder,[Disease],Hemoglobin D disease,,"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).",,,,,,,,, +GARD:19104,Active,Orphanet,ORPHA:90041,Disorder,[Disease],Gaisböck syndrome,"[Stress erythrocytosis, Stress polycythemia]",Gaisbock syndrome is characterised by secondary polycythemia.,,,,,,,,, +GARD:19105,Active,Orphanet,ORPHA:90051,Disorder,[Particular clinical situation in a disease or syndrome],Sepsis in premature infants,,"A rare systemic condition affecting neonates born at less than 37 weeks gestational age and characterized by life-threatening organ dysfunction caused by a dysregulated host response to an infection, which may have been acquired shortly before or during birth (resulting in early-onset neonatal sepsis during the first 72 hours of life), or after birth (leading to late-onset neonatal sepsis between 72 hours and three months). Prematurity constitutes one of the primary risk factors for neonatal sepsis. The clinical picture may develop gradually with signs and symptoms like irritability, lethargy, or poor feeding, or progress rapidly to respiratory distress, fever, hypothermia, hypotension, shock, and multiple organ failure.",,,,,,,,, +GARD:19106,Active,Orphanet,ORPHA:90052,Disorder,[Particular clinical situation in a disease or syndrome],Recurrent hepatitis C virus induced liver disease in liver transplant recipients,,"A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.",,,,,,,,, +GARD:19107,Active,Orphanet,ORPHA:90053,Disorder,[Particular clinical situation in a disease or syndrome],Complications after hematopoietic stem cell transplantation,[Complications after HSCT],,,,,,,,,, +GARD:19108,Active,Orphanet,ORPHA:90056,Disorder,[Particular clinical situation in a disease or syndrome],Moderate and severe traumatic brain injury,,"A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma.",,,,,,,,, +GARD:19109,Active,Orphanet,ORPHA:90058,Disorder,[Particular clinical situation in a disease or syndrome],Spinal cord injury,,,,,,,,,,, +GARD:19110,Active,Orphanet,ORPHA:90060,Disorder,[Clinical syndrome],Diffuse alveolar hemorrhage,,"A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.",,,,,,,,, +GARD:19111,Active,Orphanet,ORPHA:90061,Group of disorders,[Category],Non-infectious posterior uveitis,[Non-infectious choroiditis],,,,,,,,,, +GARD:19112,Active,Orphanet,ORPHA:90062,Disorder,[Clinical syndrome],Acute liver failure,"[Acute hepatic failure, Fulminant hepatic failure]","A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis.",,,,,,,,, +GARD:19113,Active,Orphanet,ORPHA:90064,Disorder,[Particular clinical situation in a disease or syndrome],Acute peripheral arterial occlusion,,,,,,,,,,, +GARD:19114,Active,Orphanet,ORPHA:90065,Disorder,[Particular clinical situation in a disease or syndrome],Acquired aneurysmal subarachnoid hemorrhage,,"A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.",,,,,,,,, +GARD:19115,Active,Orphanet,ORPHA:90068,Disorder,[Disease],Cocaine intoxication,,"A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.",,,,,,,,, +GARD:19116,Active,Orphanet,ORPHA:90069,Disorder,[Disease],Systemic monochloroacetate poisoning,,"Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.",,,,,,,,, +GARD:19117,Active,Orphanet,ORPHA:90073,Disorder,[Particular clinical situation in a disease or syndrome],Hepatitis B reinfection following liver transplantation,,"A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.",,,,,,,,, +GARD:19118,Active,Orphanet,ORPHA:90076,Disorder,[Particular clinical situation in a disease or syndrome],Partial deep dermal and full thickness burns,,,,,,,,,,, +GARD:19119,Active,Orphanet,ORPHA:90077,Group of disorders,[Category],Other acquired skin disease,,,,,,,,,,, +GARD:1912,Active,Orphanet,ORPHA:75376,Disorder,[Disease],Familial drusen,"[DHRD, Dominant drusen, Dominant radial drusen, Doyne honeycomb retinal dystrophy, Malattia leventinese]","A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.","[126700, 126600]",,,,,Doyne honeycomb retinal dystrophy,TRUE,FALSE,Active +GARD:19120,Active,Orphanet,ORPHA:90078,Disorder,[Particular clinical situation in a disease or syndrome],Invasive infections due to vancomycin-resistant enterococci,[Invasive infections due to VRE],,,,,,,,,, +GARD:19121,Active,Orphanet,ORPHA:90080,Disorder,[Particular clinical situation in a disease or syndrome],Scarring in glaucoma filtration surgical procedures,,,,,,,,,,, +GARD:19122,Active,Orphanet,ORPHA:90081,Disorder,[Particular clinical situation in a disease or syndrome],AIDS wasting syndrome,,,,,,,,,,, +GARD:19123,Active,Orphanet,ORPHA:90118,Disorder,[Disease],Severe early-onset axonal neuropathy due to MFN2 deficiency,"[AR-CMT2, Ouvrier type, Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, SEOAN due to MFN2 deficiency]","Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.",,,,,,,,, +GARD:19124,Active,Orphanet,ORPHA:90119,Disorder,[Disease],Hereditary motor and sensory neuropathy with acrodystrophy,"[AR-CMT2 with acrodystrophy, Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy, Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy, HMSN with acrodystrophy]","Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.",,,,,,,,, +GARD:19125,Active,Orphanet,ORPHA:90156,Disorder,[Disease],Centrifugal lipodystrophy,[Lipodystrophia centrifugalis abdominalis infantilis],"Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.",,,,,,,,, +GARD:19126,Active,Orphanet,ORPHA:90157,Disorder,[Disease],Drug-induced localized lipodystrophy,[Lipoatrophy caused by injected drug],"Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.",,,,,,,,, +GARD:19127,Active,Orphanet,ORPHA:90158,Disorder,[Disease],Idiopathic localized lipodystrophy,,"Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).",,,,,,,,, +GARD:19128,Active,Orphanet,ORPHA:90159,Disorder,[Disease],Panniculitis-induced localized lipodystrophy,,"Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.",,,,,,,,, +GARD:19129,Active,Orphanet,ORPHA:90160,Disorder,[Disease],Pressure-induced localized lipoatrophy,"[Lipoatrophia semicircularis, Semicircular lipoatrophy]","Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.",,,,,,,,, +GARD:1913,Legacy,GARD,,,,,,,,,,,,Drachtman Weinblatt Sitarz syndrome,TRUE,FALSE,Active +GARD:19130,Active,Orphanet,ORPHA:90280,Disorder,[Disease],Chilblain lupus,,"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.",,,,,,,,, +GARD:19131,Active,Orphanet,ORPHA:90281,Disorder,[Disease],Discoid lupus erythematosus,,"A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.",,,,,,,,, +GARD:19132,Active,Orphanet,ORPHA:90282,Disorder,[Disease],Hypertrophic or verrucous lupus erythematosus,,"Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.",,,,,,,,, +GARD:19133,Active,Orphanet,ORPHA:90285,Disorder,[Disease],Lupus erythematosus panniculitis,[Lupus erythematosus profundus],"A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus.",,,,,,,,, +GARD:19134,Active,Orphanet,ORPHA:90350,Group of disorders,[Clinical group],Autosomal recessive cutis laxa type 2,"[ARCL2, Cutis laxa with joint laxity and developmental delay]","A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).",,,,,,,,, +GARD:19135,Active,Orphanet,ORPHA:90363,Disorder,[Disease],Secondary intestinal lymphangiectasia,,"Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.",,,,,,,,, +GARD:19136,Active,Orphanet,ORPHA:90389,Subtype of disorder,[Clinical subtype],Telangiectasia macularis eruptiva perstans,,,,,,,,,,, +GARD:19137,Active,Orphanet,ORPHA:90393,Disorder,[Disease],Nodular lichen myxedematosus,[Atypical tuberous myxedema of Jadassohn-Dosseker],"Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.",,,,,,,,, +GARD:19138,Active,Orphanet,ORPHA:90394,Disorder,[Disease],Discrete papular lichen myxedematosus,,"Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.",,,,,,,,, +GARD:19139,Active,Orphanet,ORPHA:90395,Disorder,[Disease],Papular mucinosis of infancy,[Cutaneous mucinosis of infancy],Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.,,,,,,,,, +GARD:19140,Active,Orphanet,ORPHA:90396,Disorder,[Disease],Acral persistent papular mucinosis,,A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.,,,,,,,,, +GARD:19141,Active,Orphanet,ORPHA:90397,Disorder,[Disease],Self-healing papular mucinosis,,"Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.",,,,,,,,, +GARD:19142,Active,Orphanet,ORPHA:90398,Subtype of disorder,[Clinical subtype],Localized lichen myxedematosus with mixed features of different subtypes,,"Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).",,,,,,,,, +GARD:19143,Active,Orphanet,ORPHA:90399,Subtype of disorder,[Clinical subtype],Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,,"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.",,,,,,,,, +GARD:19144,Active,Orphanet,ORPHA:90400,Subtype of disorder,[Clinical subtype],Scleromyxedema without monoclonal gammopathy,,"Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.",,,,,,,,, +GARD:19145,Active,Orphanet,ORPHA:90642,Group of disorders,[Category],Syndromic genetic deafness,[Syndromic genetic hearing loss],,,,,,,,,, +GARD:19146,Active,Orphanet,ORPHA:90692,Group of disorders,[Category],Rare endocrine growth disease,,,,,,,,,,, +GARD:19147,Active,Orphanet,ORPHA:90771,Group of disorders,[Category],Disorder of sex development,[DSD],,,,,,,,,, +GARD:19148,Active,Orphanet,ORPHA:90776,Group of disorders,[Category],"46,XX disorder of sex development induced by fetal androgens excess","[46,XX DSD induced by fetal androgens excess]",,,,,,,,,, +GARD:19149,Active,Orphanet,ORPHA:90783,Group of disorders,[Category],"46,XY disorder of sex development due to a testosterone synthesis defect","[46,XY DSD due to a testosterone synthesis defect]",,,,,,,,,, +GARD:1915,Legacy,GARD,,,,,,,,,,,,Duane anomaly mental retardation,TRUE,FALSE,Retired +GARD:19150,Active,Orphanet,ORPHA:90786,Group of disorders,[Category],"46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect","[46,XY DSD due to adrenal and testicular steroidogenesis defect]",,,,,,,,,, +GARD:19151,Active,Orphanet,ORPHA:90787,Group of disorders,[Category],"46,XY disorder of sex development due to testicular steroidogenesis defect","[46,XY DSD due to testicular steroidogenesis defect]",,,,,,,,,, +GARD:19152,Active,Orphanet,ORPHA:91088,Group of disorders,[Category],Other metabolic disease,,,,,,,,,,, +GARD:19153,Active,Orphanet,ORPHA:91127,Disorder,[Particular clinical situation in a disease or syndrome],Adenovirus infection in immunocompromised patients,,,,,,,,,,, +GARD:19154,Active,Orphanet,ORPHA:91136,Disorder,[Disease],Acquired monoclonal Ig light chain-associated Fanconi syndrome,"[Acquired Fanconi syndrome secondary to monoclonal gammopathy, Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome]","A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.",,,,,,,,, +GARD:19155,Active,Orphanet,ORPHA:91140,Disorder,[Disease],Unspecified juvenile idiopathic arthritis,[Unspecified JIA],"Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.",,,,,,,,, +GARD:19156,Active,Orphanet,ORPHA:91144,Group of disorders,[Category],"46,XX disorder of sex development induced by maternal-derived androgen","[46,XX DSD induced by maternal-derived androgen]",,,,,,,,,, +GARD:19157,Active,Orphanet,ORPHA:91347,Disorder,[Disease],TSH-secreting pituitary adenoma,"[Pituitary thyrotrophic adenoma, TSH-oma, Thyroid stimulating hormone-secreting pituitary adenoma, Thyrotroph adenoma]","A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.",,,,,,,,, +GARD:19158,Active,Orphanet,ORPHA:91348,Disorder,[Disease],Functioning gonadotropic adenoma,"[Functioning pituitary gonadotropic adenoma, Gonadotroph adenoma]","Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).",,,,,,,,, +GARD:19159,Active,Orphanet,ORPHA:91349,Disorder,[Disease],Non-functioning pituitary adenoma,[NFPA],"A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally.",,,,,,,,, +GARD:19160,Active,Orphanet,ORPHA:91350,Disorder,[Disease],Pituitary deficiency due to Rathke cleft cysts,,"A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.",,,,,,,,, +GARD:19161,Active,Orphanet,ORPHA:91351,Disorder,[Disease],Pituitary dermoid and epidermoid cysts,,"Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.",,,,,,,,, +GARD:19162,Active,Orphanet,ORPHA:91352,Subtype of disorder,[Clinical subtype],Germinoma of the central nervous system,,"A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.",,,,,,,,, +GARD:19163,Active,Orphanet,ORPHA:91354,Disorder,[Disease],Pituitary deficiency due to empty sella turcica syndrome,[Hypopituitarism due to empty sella turcica syndrome],"A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others.",,,,,,,,, +GARD:19164,Active,Orphanet,ORPHA:91357,Group of disorders,[Clinical group],Duplication of the esophagus,,,,,,,,,,, +GARD:19165,Active,Orphanet,ORPHA:91358,Disorder,[Morphological anomaly],Congenital esophageal diverticulum,[Congenital esophageal pouch],"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.",,,,,,,,, +GARD:19166,Active,Orphanet,ORPHA:91359,Disorder,[Disease],Chronic pneumonitis of infancy,[CPI],"Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).",,,,,,,,, +GARD:19167,Active,Orphanet,ORPHA:91364,Disorder,[Disease],Non-specific interstitial pneumonia,"[NSIP, Non-specific idiopathic interstitial pneumonia]","A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are non-specific and include dyspnea, cough, and often constitutional symptoms such as fever and fatigue. Pulmonary function test reveals a restrictive pattern. Computed tomography shows predominantly lower lobe subpleural reticular changes, traction bronchiectasis, and ground-glass opacities. The cellular type of the disease is less common but carries a better prognosis.",,,,,,,,, +GARD:19168,Active,Orphanet,ORPHA:91397,Disorder,[Morphological anomaly],Isolated ankyloblepharon filiforme adnatum,,"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.",,,,,,,,, +GARD:19169,Active,Orphanet,ORPHA:91491,Disorder,[Malformation syndrome],Congenital ectropion uveae,,"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.",,,,,,,,, +GARD:1917,Active,Orphanet,ORPHA:1656,Disorder,[Disease],Dermatitis herpetiformis,[Duhring-Brocq disease],"A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.",[601230],,,,,Dermatitis herpetiformis ,TRUE,FALSE,Active +GARD:19170,Active,Orphanet,ORPHA:91546,Disorder,[Disease],Lyme disease,[Lyme borreliosis],Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.,,,,,,,,, +GARD:19171,Active,Orphanet,ORPHA:91547,Disorder,[Disease],Relapsing fever,,"Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.",,,,,,,,, +GARD:19172,Active,Orphanet,ORPHA:93101,Disorder,[Morphological anomaly],Renal hypoplasia,,A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.,,,,,,,,, +GARD:19173,Active,Orphanet,ORPHA:93108,Disorder,[Morphological anomaly],Renal dysplasia,[Kidney dysplasia],"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.",,,,,,,,, +GARD:19174,Active,Orphanet,ORPHA:93109,Disorder,[Morphological anomaly],Congenital megacalycosis,,"Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.",,,,,,,,, +GARD:19175,Active,Orphanet,ORPHA:93126,Disorder,[Disease],Pauci-immune glomerulonephritis,,"A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis.",,,,,,,,, +GARD:19176,Active,Orphanet,ORPHA:93164,Disorder,[Disease],Transient pseudohypoaldosteronism,"[Secondary pseudohypoaldosteronism, TPHA]","A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.",,,,,,,,, +GARD:19177,Active,Orphanet,ORPHA:93172,Subtype of disorder,[Clinical subtype],"Renal dysplasia, unilateral","[Kidney dysplasia, unilateral]","A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.",,,,,,,,, +GARD:19178,Active,Orphanet,ORPHA:93173,Subtype of disorder,[Clinical subtype],"Renal dysplasia, bilateral","[Kidney dysplasia, bilateral]","A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.",,,,,,,,, +GARD:19179,Active,Orphanet,ORPHA:93176,Subtype of disorder,[Clinical subtype],Unilateral congenital megacalycosis,,,,,,,,,,, +GARD:1918,Legacy,GARD,,,,,,,,,,,,Duker Weiss Siber syndrome,TRUE,FALSE,Active +GARD:19180,Active,Orphanet,ORPHA:93177,Subtype of disorder,[Clinical subtype],Congenital bilateral megacalycosis,,,,,,,,,,, +GARD:19181,Active,Orphanet,ORPHA:93277,Subtype of disorder,[Clinical subtype],Monostotic fibrous dysplasia,[Jaffe-Lichtenstein disease],,,,,,,,,, +GARD:19182,Active,Orphanet,ORPHA:93320,Disorder,[Morphological anomaly],Ulnar hemimelia,"[Congenital longitudinal deficiency of the ulna, Ulnar clubhand, Ulnar longitudinal meromelia]",A rare congenital limb malformation characterized by complete or partial absence of the ulna.,,,,,,,,, +GARD:19183,Active,Orphanet,ORPHA:93399,Subtype of disorder,[Clinical subtype],Juvenile sialidosis type 2,,,,,,,,,,, +GARD:19184,Active,Orphanet,ORPHA:93400,Subtype of disorder,[Clinical subtype],Congenital sialidosis type 2,,,,,,,,,,, +GARD:19185,Active,Orphanet,ORPHA:93420,Group of disorders,[Category],FGFR3-related chondrodysplasia,,,,,,,,,,, +GARD:19186,Active,Orphanet,ORPHA:93421,Group of disorders,[Category],Type 2 collagen-related bone disorder,,,,,,,,,,, +GARD:19187,Active,Orphanet,ORPHA:93422,Group of disorders,[Category],Type 11 collagen-related bone disorder,,,,,,,,,,, +GARD:19188,Active,Orphanet,ORPHA:93423,Group of disorders,[Category],Sulfation-related bone disorder,,,,,,,,,,, +GARD:19189,Active,Orphanet,ORPHA:93424,Group of disorders,[Category],Perlecan-related bone disorder,,,,,,,,,,, +GARD:1919,Legacy,GARD,,,,,,,,,,,,Duodenal atresia tetralogy of Fallot,TRUE,FALSE,Active +GARD:19190,Active,Orphanet,ORPHA:93425,Group of disorders,[Category],Filamin-related bone disorder,[Bone filaminopathy],,,,,,,,,, +GARD:19191,Active,Orphanet,ORPHA:93429,Group of disorders,[Category],Multiple epiphyseal dysplasia and pseudoachondroplasia,,,,,,,,,,, +GARD:19192,Active,Orphanet,ORPHA:93430,Group of disorders,[Clinical group],Multiple metaphyseal dysplasia,,,,,,,,,,, +GARD:19193,Active,Orphanet,ORPHA:93434,Group of disorders,[Clinical group],Spondylodysplastic dysplasia,,,,,,,,,,, +GARD:19194,Active,Orphanet,ORPHA:93436,Group of disorders,[Clinical group],Acromelic dysplasia,,,,,,,,,,, +GARD:19195,Active,Orphanet,ORPHA:93438,Group of disorders,[Clinical group],Mesomelic and rhizo-mesomelic dysplasia,,,,,,,,,,, +GARD:19196,Active,Orphanet,ORPHA:93439,Group of disorders,[Clinical group],Campomelic dysplasia and related disorders,[Bent bone dysplasia],,,,,,,,,, +GARD:19197,Active,Orphanet,ORPHA:93440,Group of disorders,[Clinical group],Slender bone dysplasia,,,,,,,,,,, +GARD:19198,Active,Orphanet,ORPHA:93441,Group of disorders,[Clinical group],Primary bone dysplasia with multiple joint dislocations,"[Primary osteodysplasia with multiple joint dislocations, Primary skeletal dysplasia with multiple joint dislocations]",,,,,,,,,, +GARD:19199,Active,Orphanet,ORPHA:93443,Group of disorders,[Clinical group],Neonatal osteosclerotic dysplasia,,,,,,,,,,, +GARD:192,Active,Orphanet,ORPHA:1381,Disorder,[Malformation syndrome],Cataract-intellectual disability-anal atresia-urinary defects syndrome,[Karandikar-Maria-Kamble syndrome],"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.",,,,,,Karandikar Maria Kamble syndrome,TRUE,FALSE,Active +GARD:19200,Active,Orphanet,ORPHA:93444,Group of disorders,[Category],Primary bone dysplasia with increased bone density,"[Primary osteodysplasia with increased bone density, Primary skeletal dysplasia with increased bone density, Sclerosing bone dysplasia]",,,,,,,,,, +GARD:19201,Active,Orphanet,ORPHA:93446,Group of disorders,[Category],Primary bone dysplasia with decreased bone density,"[Primary osteodysplasia with decreased bone density, Primary skeletal dysplasia with decreased bone density]",,,,,,,,,, +GARD:19202,Active,Orphanet,ORPHA:93447,Group of disorders,[Category],Primary bone dysplasia with defective bone mineralization,"[Primary osteodysplasia with defective bone mineralization, Primary skeletal dysplasia with defective bone mineralization]",,,,,,,,,, +GARD:19203,Active,Orphanet,ORPHA:93448,Group of disorders,[Category],Lysosomal storage disease with skeletal involvement,[Dysostosis multiplex],,,,,,,,,, +GARD:19204,Active,Orphanet,ORPHA:93449,Group of disorders,[Category],Primary osteolysis,,,,,,,,,,, +GARD:19205,Active,Orphanet,ORPHA:93450,Group of disorders,[Category],Primary bone dysplasia with disorganized development of skeletal components,"[Primary osteodysplasia with disorganized development of skeletal components, Primary skeletal dysplasia with disorganized development of skeletal components]",,,,,,,,,, +GARD:19206,Active,Orphanet,ORPHA:93451,Group of disorders,[Category],Cleidocranial dysplasia and isolated cranial ossification defect,,,,,,,,,,, +GARD:19207,Active,Orphanet,ORPHA:93453,Group of disorders,[Category],Dysostosis with predominant craniofacial involvement,,,,,,,,,,, +GARD:19208,Active,Orphanet,ORPHA:93454,Group of disorders,[Category],Dysostosis with predominant vertebral and costal involvement,,,,,,,,,,, +GARD:19209,Active,Orphanet,ORPHA:93455,Group of disorders,[Category],Patellar dysostosis,,,,,,,,,,, +GARD:19210,Active,Orphanet,ORPHA:93457,Group of disorders,[Category],Non-syndromic limb reduction defect,[Non-syndromic limb hypoplasia],,,,,,,,,, +GARD:19211,Active,Orphanet,ORPHA:93458,Group of disorders,[Category],"Non-syndromic polydactyly, syndactyly and/or hyperphalangy",,,,,,,,,,, +GARD:19212,Active,Orphanet,ORPHA:93459,Group of disorders,[Category],Syndrome with synostosis or other joint formation defect,,,,,,,,,,, +GARD:19213,Active,Orphanet,ORPHA:93460,Group of disorders,[Category],Overgrowth syndrome,,,,,,,,,,, +GARD:19214,Active,Orphanet,ORPHA:93461,Group of disorders,[Category],Chromosomal disease with overgrowth,,,,,,,,,,, +GARD:19215,Active,Orphanet,ORPHA:93465,Group of disorders,[Category],Lethal chondrodysplasia,,,,,,,,,,, +GARD:19216,Active,Orphanet,ORPHA:93545,Group of disorders,[Category],Renal or urinary tract malformation,"[CAKUT, Congenital anomalies of kidney and urinary tract]",,,,,,,,,, +GARD:19217,Active,Orphanet,ORPHA:93546,Group of disorders,[Category],Non-syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:19218,Active,Orphanet,ORPHA:93547,Group of disorders,[Category],Syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:19219,Active,Orphanet,ORPHA:93552,Disorder,[Disease],Pediatric systemic lupus erythematosus,"[SLE, pediatric onset]","A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).",,,,,,,,, +GARD:19220,Active,Orphanet,ORPHA:93554,Subtype of disorder,[Etiological subtype],Mixed cryoglobulinemia type II,[MC type II],"A clinico-serological subtype of mixed cryoglobulinemia syndrome, an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).",,,,,,,,, +GARD:19221,Active,Orphanet,ORPHA:93555,Subtype of disorder,[Etiological subtype],Mixed cryoglobulinemia type III,[MC type III],"A clinico-serological subtype of mixed cryoglobulinemia syndrome, is an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.",,,,,,,,, +GARD:19222,Active,Orphanet,ORPHA:93556,Subtype of disorder,[Clinical subtype],Heavy chain deposition disease,[HCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.",,,,,,,,, +GARD:19223,Active,Orphanet,ORPHA:93557,Subtype of disorder,[Clinical subtype],Light and heavy chain deposition disease,[LHCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved.",,,,,,,,, +GARD:19224,Active,Orphanet,ORPHA:93560,Subtype of disorder,[Clinical subtype],AApoAI amyloidosis,"[Apolipoprotein A-I amyloidosis, Familial amyloid nephropathy due to apolipoprotein A-I variant, Familial renal amyloidosis due to apolipoprotein A-I variant, Hereditary amyloid nephropathy due to apolipoprotein A-I variant, Hereditary renal amyloidosis due to apolipoprotein A-I variant]","A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.",,,,,,,,, +GARD:19225,Active,Orphanet,ORPHA:93561,Subtype of disorder,[Clinical subtype],ALys amyloidosis,"[Familial amyloid nephropathy due to lysozyme variant, Familial renal amyloidosis due to lysozyme variant, Hereditary amyloid nephropathy due to lysozyme variant, Hereditary renal amyloidosis due to lysozyme variant, Lysozyme amyloidosis]","A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.",,,,,,,,, +GARD:19226,Active,Orphanet,ORPHA:93562,Subtype of disorder,[Clinical subtype],AFib amyloidosis,"[Familial amyloid nephropathy due to fibrinogen A alpha-chain variant, Fibrinogen A alpha-chain amyloidosis, Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant, Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant]","A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.",,,,,,,,, +GARD:19227,Active,Orphanet,ORPHA:93573,Group of disorders,[Clinical group],Thrombotic microangiopathy,[TMA],,,,,,,,,, +GARD:19228,Active,Orphanet,ORPHA:93587,Group of disorders,[Category],Genetic cystic renal disease,[Hereditary cystic renal disease],,,,,,,,,, +GARD:19229,Active,Orphanet,ORPHA:93593,Group of disorders,[Category],Nephropathy secondary to a storage or other metabolic disease,,,,,,,,,,, +GARD:1923,Legacy,GARD,,,,,,,,,,,,Chromosome 11q duplication,TRUE,FALSE,Active +GARD:19230,Active,Orphanet,ORPHA:93603,Group of disorders,[Category],Rare renal tubular disease,,,,,,,,,,, +GARD:19231,Active,Orphanet,ORPHA:93614,Group of disorders,[Category],Hematological disorder with renal involvement,,,,,,,,,,, +GARD:19232,Active,Orphanet,ORPHA:93618,Group of disorders,[Category],Rare cause of hypertension,,,,,,,,,,, +GARD:19233,Active,Orphanet,ORPHA:93619,Group of disorders,[Category],Rare renal tumor,,,,,,,,,,, +GARD:19234,Active,Orphanet,ORPHA:93665,Group of disorders,[Category],Autoinflammatory syndrome,,,,,,,,,,, +GARD:19235,Active,Orphanet,ORPHA:93928,Subtype of disorder,[Clinical subtype],Isolated epispadias,,A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.,,,,,,,,, +GARD:19236,Active,Orphanet,ORPHA:93938,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 1,"[LTEC I, LTEC1, Laryngo-tracheo-esophageal cleft type 1]","A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.",,,,,,,,, +GARD:19237,Active,Orphanet,ORPHA:93939,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 2,"[LTEC II, LTEC2, Laryngo-tracheo-esophageal cleft type 2]","A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.",,,,,,,,, +GARD:19238,Active,Orphanet,ORPHA:93941,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 4,"[LTEC IV, LTEC4, Laryngo-tracheo-esophageal cleft type 4]","A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.",,,,,,,,, +GARD:19239,Active,Orphanet,ORPHA:93945,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Porteous type",,,,,,,,,,, +GARD:19240,Active,Orphanet,ORPHA:93946,Subtype of disorder,[Clinical subtype],Hamel cerebro-palato-cardiac syndrome,,"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",,,,,,,,, +GARD:19241,Active,Orphanet,ORPHA:93947,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Golabi-Ito-Hall type",,"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",,,,,,,,, +GARD:19242,Active,Orphanet,ORPHA:93950,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Sutherland-Haan type",,,,,,,,,,, +GARD:19243,Active,Orphanet,ORPHA:93958,Disorder,[Disease],Oromandibular dystonia,,"A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.",,,,,,,,, +GARD:19244,Active,Orphanet,ORPHA:94056,Disorder,[Morphological anomaly],Humero-ulnar synostosis,[Humero-ulnar fusion],"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.",,,,,,,,, +GARD:19245,Active,Orphanet,ORPHA:94058,Disorder,[Particular clinical situation in a disease or syndrome],Neovascular glaucoma,,"Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.",,,,,,,,, +GARD:19246,Active,Orphanet,ORPHA:94059,Disorder,[Particular clinical situation in a disease or syndrome],Uremic pruritus,,,,,,,,,,, +GARD:19247,Active,Orphanet,ORPHA:94066,Disorder,[Malformation syndrome],Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,,"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.",,,,,,,,, +GARD:19248,Active,Orphanet,ORPHA:94080,Disorder,[Disease],Non-functioning paraganglioma,[Non-secreting paraganglioma],"A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.",,,,,,,,, +GARD:19249,Active,Orphanet,ORPHA:94087,Disorder,[Disease],Cytophagic histiocytic panniculitis,"[CHP, Winkelmann cytophagic panniculitis]","Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.",,,,,,,,, +GARD:19250,Active,Orphanet,ORPHA:94091,Disorder,[Disease],Mills syndrome,,"A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemiplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.",,,,,,,,, +GARD:19251,Active,Orphanet,ORPHA:94125,Disorder,[Disease],Recessive mitochondrial ataxia syndrome,[MIRAS],"Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.",,,,,,,,, +GARD:19252,Active,Orphanet,ORPHA:94145,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type I,"[ADCA1, ADCAI, Autosomal dominant cerebellar ataxia type 1, Cerebellar plus syndrome]","A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.",,,,,,,,, +GARD:19253,Active,Orphanet,ORPHA:94148,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type III,"[ADCA3, ADCAIII, Autosomal dominant cerebellar ataxia type 3, Pure cerebellar syndrome-mild pyramidal signs syndrome]","A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.",,,,,,,,, +GARD:19254,Active,Orphanet,ORPHA:94149,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type IV,"[ADCA4, ADCAIV, Autosomal dominant cerebellar ataxia type 4]",,,,,,,,,, +GARD:19255,Active,Orphanet,ORPHA:95157,Group of disorders,[Clinical group],Acute hepatic porphyria,,"A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).",,,,,,,,, +GARD:19256,Active,Orphanet,ORPHA:95161,Group of disorders,[Clinical group],Chronic hepatic porphyria,,Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).,,,,,,,,, +GARD:19257,Active,Orphanet,ORPHA:95409,Disorder,[Clinical syndrome],Acute adrenal insufficiency,"[Acute adrenal failure, Acute adrenocortical insufficiency, Addisonian crisis, Adrenal crisis, Adrenocortical crisis]","A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.",,,,,,,,, +GARD:19258,Active,Orphanet,ORPHA:95427,Disorder,[Disease],Secondary short bowel syndrome,,"Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.",,,,,,,,, +GARD:19259,Active,Orphanet,ORPHA:95443,Disorder,[Morphological anomaly],Mesocardia,[Midline heart],"A rare, congenital non-syndromic heart malformation characterized by an atypical location of the heart in a central position in the thorax, with the apex in the midline of the thorax. Atria are usually situs solitus, whereas ventricles may be situs inversus. Various congenital heart anomalies and visceral situs inversus have also been associated.",,,,,,,,, +GARD:1926,Legacy,GARD,,,,,,,,,,,,Chromosome 12q duplication,TRUE,FALSE,Active +GARD:19260,Active,Orphanet,ORPHA:95448,Subtype of disorder,[Clinical subtype],Congenital aortic valve atresia,,,,,,,,,,, +GARD:19261,Active,Orphanet,ORPHA:95457,Disorder,[Morphological anomaly],Tricuspid valve agenesis,[Congenital unguarded tricuspid orifice],"A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.",,,,,,,,, +GARD:19262,Active,Orphanet,ORPHA:95459,Disorder,[Morphological anomaly],Congenital tricuspid stenosis,,"A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.",,,,,,,,, +GARD:19263,Active,Orphanet,ORPHA:95461,Disorder,[Morphological anomaly],Straddling or overriding tricuspid valve,,"Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.",,,,,,,,, +GARD:19264,Active,Orphanet,ORPHA:95462,Disorder,[Morphological anomaly],Accessory tricuspid valve tissue,,"A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.",,,,,,,,, +GARD:19265,Active,Orphanet,ORPHA:95463,Group of disorders,[Category],Anomaly of the tricuspid subvalvular apparatus,,"A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.",,,,,,,,, +GARD:19266,Active,Orphanet,ORPHA:95464,Group of disorders,[Category],Congenital mitral valve insufficiency and/or stenosis,,,,,,,,,,, +GARD:19267,Active,Orphanet,ORPHA:95465,Disorder,[Morphological anomaly],Cleft mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.",,,,,,,,, +GARD:19268,Active,Orphanet,ORPHA:95474,Subtype of disorder,[Clinical subtype],Double-orifice mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.",,,,,,,,, +GARD:19269,Active,Orphanet,ORPHA:95483,Group of disorders,[Category],Univentricular cardiopathy,,,,,,,,,,, +GARD:19270,Active,Orphanet,ORPHA:95485,Group of disorders,[Category],Arterial duct anomaly,[Patent ductus arteriosus anomalies],,,,,,,,,, +GARD:19271,Active,Orphanet,ORPHA:95486,Disorder,[Morphological anomaly],Premature closure of the arterial duct,[Premature closure of the patent ductus arteriosus],"Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.",,,,,,,,, +GARD:19272,Active,Orphanet,ORPHA:95488,Group of disorders,[Category],Non-acquired pituitary hormone deficiency,,,,,,,,,,, +GARD:19273,Active,Orphanet,ORPHA:95491,Disorder,[Morphological anomaly],Congenital coronary artery aneurysm,[Congenital coronary aneurysm],"Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.",,,,,,,,, +GARD:19274,Active,Orphanet,ORPHA:95495,Group of disorders,[Category],Disease associated with non-acquired combined pituitary hormone deficiency,,,,,,,,,,, +GARD:19275,Active,Orphanet,ORPHA:95498,Group of disorders,[Category],Congenital anomaly of superior vena cava,"[Congenital anomaly of superior caval vein, Congenital anomaly of the SVC]",,,,,,,,,, +GARD:19276,Active,Orphanet,ORPHA:95499,Group of disorders,[Category],Congenital anomaly of the inferior vena cava,"[Congenital anomaly of the IVC, Congenital anomaly of the inferior caval vein]",,,,,,,,,, +GARD:19277,Active,Orphanet,ORPHA:95500,Group of disorders,[Category],Congenital anomaly of the coronary sinus,,,,,,,,,,, +GARD:19278,Active,Orphanet,ORPHA:95502,Group of disorders,[Category],Acquired pituitary hormone deficiency,,,,,,,,,,, +GARD:19279,Active,Orphanet,ORPHA:95503,Group of disorders,[Category],Pituitary hormone deficiency of tumoral origin,,,,,,,,,,, +GARD:19280,Active,Orphanet,ORPHA:95505,Group of disorders,[Category],Pituitary hormone deficiency of meningeal origin,,,,,,,,,,, +GARD:19281,Active,Orphanet,ORPHA:95506,Group of disorders,[Clinical group],Primary hypophysitis,[Autoimmune hypophysitis],,,,,,,,,, +GARD:19282,Active,Orphanet,ORPHA:95507,Disorder,[Morphological anomaly],Congenital anomaly of hepatic vein,,,,,,,,,,, +GARD:19283,Active,Orphanet,ORPHA:95510,Group of disorders,[Category],Atrial appendage anomaly,[Atrial auricle anomaly],,,,,,,,,, +GARD:19284,Active,Orphanet,ORPHA:95512,Disorder,[Disease],Adenohypophysitis,[Anterior pituitary hypophysitis],"A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.",,,,,,,,, +GARD:19285,Active,Orphanet,ORPHA:95513,Disorder,[Disease],Panhypophysitis,[Infundibulo-panhypophysitis],"Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.",,,,,,,,, +GARD:19286,Active,Orphanet,ORPHA:95611,Group of disorders,[Category],Pituitary hormone deficiency of vascular origin,,,,,,,,,,, +GARD:19287,Active,Orphanet,ORPHA:95613,Disorder,[Disease],Pituitary apoplexy,[Pituitary tumor apoplexy],"A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency.",,,,,,,,, +GARD:19288,Active,Orphanet,ORPHA:95617,Group of disorders,[Category],Pituitary hormone deficiency secondary to a granulomatous disease,,,,,,,,,,, +GARD:19289,Active,Orphanet,ORPHA:95618,Group of disorders,[Category],Pituitary hormone deficiency secondary to storage disease,,,,,,,,,,, +GARD:1929,Legacy,GARD,,,,,,,,,,,,Chromosome 13q duplication,TRUE,FALSE,Active +GARD:19290,Active,Orphanet,ORPHA:95619,Disorder,[Disease],Post-traumatic pituitary deficiency,,"A rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.",,,,,,,,, +GARD:19291,Active,Orphanet,ORPHA:95626,Subtype of disorder,[Clinical subtype],Acquired central diabetes insipidus,"[Acquired CDI, Acquired neurogenic diabetes insipidus]","A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.",,,,,,,,, +GARD:19292,Active,Orphanet,ORPHA:95707,Disorder,[Morphological anomaly],Idiopathic isolated micropenis,,"A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.",,,,,,,,, +GARD:19293,Active,Orphanet,ORPHA:95709,Group of disorders,[Category],Acquired premature ovarian failure,,,,,,,,,,, +GARD:19294,Active,Orphanet,ORPHA:95710,Group of disorders,[Category],Non-acquired premature ovarian failure,,,,,,,,,,, +GARD:19295,Active,Orphanet,ORPHA:95711,Group of disorders,[Category],Congenital hypothyroidism due to developmental anomaly,[Primary congenital hypothyroidism due to developmental anomaly],"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.",,,,,,,,, +GARD:19296,Active,Orphanet,ORPHA:95714,Group of disorders,[Category],Primary congenital hypothyroidism without thyroid developmental anomaly,,Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.,,,,,,,,, +GARD:19297,Active,Orphanet,ORPHA:95715,Disorder,[Disease],Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,,"Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent.",,,,,,,,, +GARD:19298,Active,Orphanet,ORPHA:95717,Disorder,[Disease],Idiopathic congenital hypothyroidism,,Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.,,,,,,,,, +GARD:19299,Active,Orphanet,ORPHA:95718,Group of disorders,[Category],Congenital thyroid malformation without hypothyroidism,,,,,,,,,,, +GARD:193,Active,Orphanet,ORPHA:2745,Disorder,[Malformation syndrome],Opitz GBBB syndrome,"[Hypertelorism-hypospadias syndrome, Hypertelorism-oesophageal abnormality-hypospadias syndrome, Hypospadias-dysphagia syndrome, Opitz BBB/G syndrome, Opitz BBBG syndrome, Opitz G/BBB syndrome, Opitz-Frias syndrome]","A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.",[300000],,,,,Opitz G/BBB syndrome,TRUE,FALSE,Active +GARD:19300,Active,Orphanet,ORPHA:96059,Disorder,[Malformation syndrome],Mosaic trisomy 4,"[Mosaic trisomy chromosome 4, Trisomy 4 mosaicism]","Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.",,,,,,,,, +GARD:19301,Active,Orphanet,ORPHA:96060,Disorder,[Malformation syndrome],Mosaic trisomy 5,"[Mosaic trisomy chromosome 5, Trisomy 5 mosaicism]","Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.",,,,,,,,, +GARD:19302,Active,Orphanet,ORPHA:96063,Disorder,[Malformation syndrome],Mosaic trisomy 10,"[Mosaic trisomy chromosome 10, Trisomy 10 mosaicism]","Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.",,,,,,,,, +GARD:19303,Active,Orphanet,ORPHA:96069,Disorder,[Malformation syndrome],Distal trisomy 1p36,"[Distal duplication 1p36, Telomeric duplication 1p36, Trisomy 1pter]","Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.",,,,,,,,, +GARD:19304,Active,Orphanet,ORPHA:96070,Disorder,[Malformation syndrome],Distal trisomy 2p,"[Distal duplication 2p, Telomeric duplication 2p, Trisomy 2pter]","Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.",,,,,,,,, +GARD:19305,Active,Orphanet,ORPHA:96071,Disorder,[Malformation syndrome],Distal trisomy 3p,"[Distal duplication 3p, Telomeric duplication 3p, Trisomy 3pter]","Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.",,,,,,,,, +GARD:19306,Active,Orphanet,ORPHA:96072,Disorder,[Malformation syndrome],4p16.3 microduplication syndrome,"[Distal duplication 4p, Distal trisomy 4p, Telomeric duplication 4p, Trisomy 4pter]","4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.",,,,,,,,, +GARD:19307,Active,Orphanet,ORPHA:96074,Disorder,[Malformation syndrome],Distal trisomy 7p,"[Distal duplication 7p, Telomeric duplication 7p, Trisomy 7pter]","Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.",,,,,,,,, +GARD:19308,Active,Orphanet,ORPHA:96076,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 microduplication,,,,,,,,,,, +GARD:19309,Active,Orphanet,ORPHA:96092,Disorder,[Malformation syndrome],8p inverted duplication/deletion syndrome,"[Invdupdel(8p), Inverted 8p duplication/deletion syndrome]","A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).",,,,,,,,, +GARD:19310,Active,Orphanet,ORPHA:96094,Disorder,[Malformation syndrome],Distal trisomy 2q,"[Distal duplication 2q, Telomeric duplication 2q, Trisomy 2qter]","Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.",,,,,,,,, +GARD:19311,Active,Orphanet,ORPHA:96095,Disorder,[Malformation syndrome],3q26 microduplication syndrome,"[Dup(3)(q26), Dup(3q) syndrome, Trisomy 3q26]","3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.",,,,,,,,, +GARD:19312,Active,Orphanet,ORPHA:96096,Disorder,[Malformation syndrome],Distal trisomy 4q,"[Distal duplication 4q, Telomeric duplication 4q, Trisomy 4qter]","Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.",,,,,,,,, +GARD:19313,Active,Orphanet,ORPHA:96097,Disorder,[Malformation syndrome],Distal trisomy 5q,"[Distal duplication 5q, Telomeric duplication 5q, Trisomy 5qter]","Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).",,,,,,,,, +GARD:19314,Active,Orphanet,ORPHA:96098,Disorder,[Malformation syndrome],Distal trisomy 6q,"[Distal duplication 6q, Telomeric duplication 6q, Trisomy 6qter]","Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.",,,,,,,,, +GARD:19315,Active,Orphanet,ORPHA:96100,Disorder,[Malformation syndrome],Distal trisomy 8q,"[Distal duplication 8q, Telomeric duplication 8q, Trisomy 8qter]","Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).",,,,,,,,, +GARD:19316,Active,Orphanet,ORPHA:96101,Disorder,[Malformation syndrome],Distal trisomy 9q,"[Distal duplication 9q, Telomeric duplication 9q, Trisomy 9qter]","Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.",,,,,,,,, +GARD:19317,Active,Orphanet,ORPHA:96102,Disorder,[Malformation syndrome],Distal trisomy 10q,"[Distal duplication 10q, Telomeric duplication 10q, Trisomy 10qter]","Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.",,,,,,,,, +GARD:19318,Active,Orphanet,ORPHA:96103,Disorder,[Malformation syndrome],Distal trisomy 11q,"[Distal duplication 11q, Telomeric duplication 11q, Trisomy 11qter]","Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.",,,,,,,,, +GARD:19319,Active,Orphanet,ORPHA:96105,Disorder,[Malformation syndrome],Distal trisomy 13q,"[Distal duplication 13q, Telomeric duplication 13q, Trisomy 13qter]","Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.",,,,,,,,, +GARD:19320,Active,Orphanet,ORPHA:96106,Disorder,[Malformation syndrome],Distal trisomy 16q,"[Distal duplication 16q, Telomeric duplication 16q, Trisomy 16qter]","Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.",,,,,,,,, +GARD:19321,Active,Orphanet,ORPHA:96107,Disorder,[Malformation syndrome],Distal trisomy 20q,"[Distal duplication 20q, Telomeric duplication 20q, Trisomy 20qter]","Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.",,,,,,,,, +GARD:19322,Active,Orphanet,ORPHA:96109,Disorder,[Malformation syndrome],Distal trisomy 22q,"[Distal duplication 22q, Telomeric duplication 22q, Trisomy 22qter]","Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.",,,,,,,,, +GARD:19323,Active,Orphanet,ORPHA:96112,Disorder,[Malformation syndrome],Non-distal trisomy 9q,"[Non-distal duplication 9q, Non-telomeric trisomy 9q]","Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.",,,,,,,,, +GARD:19324,Active,Orphanet,ORPHA:96123,Disorder,[Malformation syndrome],Monosomy 22,"[Del(22), Deletion 22]","A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.",,,,,,,,, +GARD:19325,Active,Orphanet,ORPHA:96126,Disorder,[Malformation syndrome],Distal monosomy 7p,"[Distal deletion 7p, Monosomy 7pter, Telomeric deletion 7p]","Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.",,,,,,,,, +GARD:19326,Active,Orphanet,ORPHA:96129,Disorder,[Malformation syndrome],Distal monosomy 19p13.3,"[Distal deletion 19p, Telomeric deletion 19p]","Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).",,,,,,,,, +GARD:19327,Active,Orphanet,ORPHA:96145,Disorder,[Malformation syndrome],Distal monosomy 4q,"[Distal deletion 4q, Monosomy 4qter, Telomeric deletion 4q]","Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.",,,,,,,,, +GARD:19328,Active,Orphanet,ORPHA:96149,Disorder,[Malformation syndrome],Distal monosomy 12q,"[Distal deletion 12q, Monosomy 12qter, Telomeric deletion 12q]",,,,,,,,,, +GARD:19329,Active,Orphanet,ORPHA:96150,Disorder,[Malformation syndrome],Distal monosomy 14q,"[Distal deletion 14q, Telomeric deletion 14q]","Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.",,,,,,,,, +GARD:19330,Active,Orphanet,ORPHA:96160,Disorder,[Malformation syndrome],Non-distal monosomy 12q,"[Non-distal deletion 12q, Non-telomeric monosomy 12q]","Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.",,,,,,,,, +GARD:19331,Active,Orphanet,ORPHA:96179,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 2,[UPD(2)mat],Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19332,Active,Orphanet,ORPHA:96180,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 4,[UPD(4)mat],Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19333,Active,Orphanet,ORPHA:96181,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 6,[UPD(6)mat],Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.,,,,,,,,, +GARD:19334,Active,Orphanet,ORPHA:96182,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,[UPD(7)mat],"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).",,,,,,,,, +GARD:19335,Active,Orphanet,ORPHA:96183,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 9,[UPD(9)mat],Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19336,Active,Orphanet,ORPHA:96185,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 16,[UPD(16)mat],"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.",,,,,,,,, +GARD:19337,Active,Orphanet,ORPHA:96187,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 21,[UPD(21)mat],Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:19338,Active,Orphanet,ORPHA:96188,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 22,[UPD(22)mat],Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:19339,Active,Orphanet,ORPHA:96190,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 5,[UPD(5)pat],Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19340,Active,Orphanet,ORPHA:96191,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 6,[UPD(6)pat],"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.",,,,,,,,, +GARD:19341,Active,Orphanet,ORPHA:96192,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 7,[UPD(7)pat],"Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).",,,,,,,,, +GARD:19342,Active,Orphanet,ORPHA:96193,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,"[Mosaic paternal uniparental disomy of chromosome 11, UPD(11)pat]",,,,,,,,,, +GARD:19343,Active,Orphanet,ORPHA:96194,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 20,"[Paternal UPD(20), UPD(20)pat]","Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.",,,,,,,,, +GARD:19344,Active,Orphanet,ORPHA:96195,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 21,[UPD(21)pat],Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19345,Active,Orphanet,ORPHA:96201,Disorder,[Malformation syndrome],X small rings,,"X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.",,,,,,,,, +GARD:19346,Active,Orphanet,ORPHA:96210,Group of disorders,[Category],Rare genetic deafness,[Rare genetic hearing loss],,,,,,,,,, +GARD:19347,Active,Orphanet,ORPHA:96269,Disorder,[Morphological anomaly],Isolated partial vaginal agenesis,[Congenital absence of vagina],"A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.",,,,,,,,, +GARD:19348,Active,Orphanet,ORPHA:96321,Group of disorders,[Category],Polyploidy,,,,,,,,,,, +GARD:19349,Active,Orphanet,ORPHA:96325,Group of disorders,[Category],Isochromosome Y,,,,,,,,,,, +GARD:19350,Active,Orphanet,ORPHA:96333,Group of disorders,[Category],Rare otorhinolaryngological malformation,,,,,,,,,,, +GARD:19351,Active,Orphanet,ORPHA:96346,Group of disorders,[Category],Anorectal malformation,[ARM],,,,,,,,,, +GARD:19352,Active,Orphanet,ORPHA:96369,Disorder,[Disease],Early-onset schizophrenia,,"A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.",,,,,,,,, +GARD:19353,Active,Orphanet,ORPHA:97230,Disorder,[Disease],Solar urticaria,,"A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light.",,,,,,,,, +GARD:19354,Active,Orphanet,ORPHA:97240,Disorder,[Disease],Zebra body myopathy,,"Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.",,,,,,,,, +GARD:19355,Active,Orphanet,ORPHA:97252,Disorder,[Morphological anomaly],Mega-cisterna magna,,"A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.",,,,,,,,, +GARD:19356,Active,Orphanet,ORPHA:97261,Disorder,[Disease],GRFoma,"[GRF tumor, Growth hormone releasing factor tumor]","GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).",,,,,,,,, +GARD:19357,Active,Orphanet,ORPHA:97275,Group of disorders,[Category],Encephalitis,,,,,,,,,,, +GARD:19358,Active,Orphanet,ORPHA:97278,Disorder,[Disease],PPoma,[Pancreatic polypeptidoma],"PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).",,,,,,,,, +GARD:19359,Active,Orphanet,ORPHA:97285,Disorder,[Disease],Thyroid lymphoma,,"A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors.",,,,,,,,, +GARD:19360,Active,Orphanet,ORPHA:97287,Disorder,[Disease],Bronchial neuroendocrine tumor,[Bronchial NET],"A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.",,,,,,,,, +GARD:19361,Active,Orphanet,ORPHA:97289,Disorder,[Disease],Thymic neuroendocrine tumor,,"A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.",,,,,,,,, +GARD:19362,Active,Orphanet,ORPHA:97292,Disorder,[Particular clinical situation in a disease or syndrome],Cardiogenic shock,,"A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.",,,,,,,,, +GARD:19363,Active,Orphanet,ORPHA:97293,Group of disorders,[Category],Rare benign ovarian tumor,,,,,,,,,,, +GARD:19364,Active,Orphanet,ORPHA:97335,Disorder,[Disease],Osgood-Schlatter disease,"[Aseptic necrosis of the tibial tubercle, Osteochondrosis of the tibial tubercle]",Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.,,,,,,,,, +GARD:19365,Active,Orphanet,ORPHA:97336,Disorder,[Disease],Panner disease,"[Aseptic necrosis of the capital humerus, Osteochondrosis of the capital humerus]","Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.",,,,,,,,, +GARD:19366,Active,Orphanet,ORPHA:97337,Disorder,[Disease],Sinding-Larsen-Johansson disease,"[Aseptic necrosis of patella, Osteochondrosis of patella]",Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.,,,,,,,,, +GARD:19367,Active,Orphanet,ORPHA:97338,Disorder,[Disease],Melanoma of soft tissue,[Clear cell sarcoma of the tendons and aponeuroses],"A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.",,,,,,,,, +GARD:19368,Active,Orphanet,ORPHA:97339,Disorder,[Morphological anomaly],Dural sinus malformation,"[Cranial dural arteriovenous fistula, Cranial dural arteriovenous malformations]","A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.",,,,,,,,, +GARD:19369,Active,Orphanet,ORPHA:97341,Disorder,[Disease],Persistent placoid maculopathy,,"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.",,,,,,,,, +GARD:19370,Active,Orphanet,ORPHA:97349,Disorder,[Disease],Postencephalitic parkinsonism,,,,,,,,,,, +GARD:19371,Active,Orphanet,ORPHA:97353,Disorder,[Disease],Dementia pugilistica,"[Boxer's dementia, Chronic traumatic encephalopathy, Punch-drunk syndrome]","A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.",,,,,,,,, +GARD:19372,Active,Orphanet,ORPHA:97355,Disorder,[Disease],Caribbean parkinsonism,[Atypical parkinsonism in the Caribbean],"Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.",,,,,,,,, +GARD:19373,Active,Orphanet,ORPHA:97361,Subtype of disorder,[Clinical subtype],"Renal hypoplasia, unilateral",,A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood,,,,,,,,, +GARD:19374,Active,Orphanet,ORPHA:97362,Subtype of disorder,[Clinical subtype],"Renal hypoplasia, bilateral",,"A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.",,,,,,,,, +GARD:19375,Active,Orphanet,ORPHA:97363,Subtype of disorder,[Clinical subtype],Unilateral multicystic dysplastic kidney,"[Unilateral MCDK, Unilateral multicystic renal dysplasia]","A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.",,,,,,,,, +GARD:19376,Active,Orphanet,ORPHA:97366,Disorder,[Morphological anomaly],Multiloculated renal cyst,"[Multilocular cyst of the kidney, Multilocular renal cyst]","A rare benign renal tumor characterized by a typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular. The tumor is surrounded by a thick fibrous capsule and does not contain solid areas or necrosis. Patients may be asymptomatic or present with a palpable abdominal mass and/or abdominal or flank pain. Age distribution is bimodal, the typical age of onset being either below five or between 40 and 70 years of age.",,,,,,,,, +GARD:19377,Active,Orphanet,ORPHA:97367,Subtype of disorder,[Etiological subtype],Renal tubular dysgenesis due to twin-twin transfusion,,"A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).",,,,,,,,, +GARD:19378,Active,Orphanet,ORPHA:97368,Subtype of disorder,[Etiological subtype],Drug-related renal tubular dysgenesis,,,,,,,,,,, +GARD:19379,Active,Orphanet,ORPHA:97563,Subtype of disorder,[Clinical subtype],Pauci-immune glomerulonephritis with ANCA,[Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody],"A form of pauci-immune glomerulonephritis characterized by a rapidly progressive glomerulonephritis in association with the presence of circulating antineutrophilic cytoplasmic antibodies (ANCA), mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO). Patients usually present with urinary abnormalities and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.",,,,,,,,, +GARD:19380,Active,Orphanet,ORPHA:97564,Subtype of disorder,[Clinical subtype],Pauci-immune glomerulonephritis without ANCA,"[Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis, Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody]","A form of pauci-immune glomerulonephritis characterized by rapidly progressive glomerulonephritis and the absence of antineutrophilic cytoplasmic antibodies (ANCA). In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease, have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. The prognosis is generally poorer.",,,,,,,,, +GARD:19381,Active,Orphanet,ORPHA:97598,Disorder,[Disease],Congenital renal artery stenosis,[Congenital renovascular hypoplasia],"A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria.",,,,,,,,, +GARD:19382,Active,Orphanet,ORPHA:97678,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 13,[UPD(13)mat],Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19383,Active,Orphanet,ORPHA:97944,Group of disorders,[Category],Gastroduodenal malformation,,,,,,,,,,, +GARD:19384,Active,Orphanet,ORPHA:97945,Group of disorders,[Category],Intestinal malformation,,,,,,,,,,, +GARD:19385,Active,Orphanet,ORPHA:97957,Group of disorders,[Category],Respiratory or thoracic malformation,,,,,,,,,,, +GARD:19386,Active,Orphanet,ORPHA:98010,Group of disorders,[Category],Infectious disease of the nervous system,,,,,,,,,,, +GARD:19387,Active,Orphanet,ORPHA:98022,Group of disorders,[Category],Rare headache,,,,,,,,,,, +GARD:19388,Active,Orphanet,ORPHA:98027,Group of disorders,[Category],Rare disease with odontological manifestation,,,,,,,,,,, +GARD:19389,Active,Orphanet,ORPHA:98033,Group of disorders,[Category],Rare neurologic disease with psychiatric involvement,,,,,,,,,,, +GARD:19390,Active,Orphanet,ORPHA:98038,Group of disorders,[Category],Cranial malformation,,,,,,,,,,, +GARD:19391,Active,Orphanet,ORPHA:98039,Group of disorders,[Category],Digestive tract malformation,,,,,,,,,,, +GARD:19392,Active,Orphanet,ORPHA:98041,Group of disorders,[Category],"Visceral malformation of the liver, biliary tract, pancreas or spleen",,,,,,,,,,, +GARD:19393,Active,Orphanet,ORPHA:98043,Group of disorders,[Category],Diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19394,Active,Orphanet,ORPHA:98044,Group of disorders,[Category],Central nervous system malformation,,,,,,,,,,, +GARD:19395,Active,Orphanet,ORPHA:98045,Group of disorders,[Category],Respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19396,Active,Orphanet,ORPHA:98048,Group of disorders,[Category],Rare male infertility,,,,,,,,,,, +GARD:19397,Active,Orphanet,ORPHA:98049,Group of disorders,[Category],Rare female infertility,,,,,,,,,,, +GARD:19398,Active,Orphanet,ORPHA:98052,Group of disorders,[Category],Rare allergic respiratory disease,[Rare respiratory allergy],,,,,,,,,, +GARD:19399,Active,Orphanet,ORPHA:98054,Group of disorders,[Category],Rare genetic cardiac disease,,,,,,,,,,, +GARD:194,Active,Orphanet,ORPHA:2066,Disorder,[Disease],Gamma-aminobutyric acid transaminase deficiency,[GABA transaminase deficiency],"Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.",[613163],,,,,Gamma aminobutyric acid transaminase deficiency,TRUE,FALSE,Active +GARD:19400,Active,Orphanet,ORPHA:98056,Group of disorders,[Category],Rare genetic renal disease,,,,,,,,,,, +GARD:19401,Active,Orphanet,ORPHA:98057,Group of disorders,[Category],Rare tumor,[Rare neoplasm],,,,,,,,,, +GARD:19402,Active,Orphanet,ORPHA:98058,Group of disorders,[Category],Rare urinary tract tumor,"[Rare urinary tract cancer, Rare urinary tract neoplasm]",,,,,,,,,, +GARD:19403,Active,Orphanet,ORPHA:98059,Group of disorders,[Category],Rare digestive tumor,"[Rare digestive cancer, Rare digestive neoplasm]",,,,,,,,,, +GARD:19404,Active,Orphanet,ORPHA:98060,Group of disorders,[Category],Rare respiratory tumor,"[Rare respiratory cancer, Rare respiratory neoplasm]",,,,,,,,,, +GARD:19405,Active,Orphanet,ORPHA:98061,Group of disorders,[Category],Rare otorhinolaryngologic tumor,"[Rare ORL cancer, Rare ORL neoplasm, Rare ORL tumor]",,,,,,,,,, +GARD:19406,Active,Orphanet,ORPHA:98062,Group of disorders,[Category],Rare nervous system tumor,[Rare nervous system neoplasm],,,,,,,,,, +GARD:19407,Active,Orphanet,ORPHA:98063,Group of disorders,[Category],Rare gynecological tumor,"[Rare gynaecological cancer, Rare gynaecological neoplasm]",,,,,,,,,, +GARD:19408,Active,Orphanet,ORPHA:98074,Group of disorders,[Category],Gonadal dysgenesis of gynecological interest,,,,,,,,,,, +GARD:19409,Active,Orphanet,ORPHA:98078,Group of disorders,[Category],"46,XX disorder of sex development induced by androgens excess","[46,XX DSD induced by androgens excess]",,,,,,,,,, +GARD:19410,Active,Orphanet,ORPHA:98086,Group of disorders,[Category],"46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue",,,,,,,,,,, +GARD:19411,Active,Orphanet,ORPHA:98087,Group of disorders,[Category],"Syndrome with 46,XY disorder of sex development","[Syndrome with 46,XY DSD]",,,,,,,,,, +GARD:19412,Active,Orphanet,ORPHA:98095,Group of disorders,[Category],Autosomal recessive congenital cerebellar ataxia,,,,,,,,,,, +GARD:19413,Active,Orphanet,ORPHA:98096,Group of disorders,[Category],Autosomal recessive metabolic cerebellar ataxia,,,,,,,,,,, +GARD:19414,Active,Orphanet,ORPHA:98097,Group of disorders,[Category],Autosomal recessive cerebellar ataxia due to a DNA repair defect,,,,,,,,,,, +GARD:19415,Active,Orphanet,ORPHA:98098,Group of disorders,[Category],Autosomal recessive degenerative and progressive cerebellar ataxia,,,,,,,,,,, +GARD:19416,Active,Orphanet,ORPHA:98099,Group of disorders,[Category],Autosomal recessive syndromic cerebellar ataxia,,,,,,,,,,, +GARD:19417,Active,Orphanet,ORPHA:98127,Group of disorders,[Category],Autosomal anomaly,,,,,,,,,,, +GARD:19418,Active,Orphanet,ORPHA:98130,Group of disorders,[Category],Autosomal trisomy,[Autosomal duplication],,,,,,,,,, +GARD:19419,Active,Orphanet,ORPHA:98131,Group of disorders,[Category],Total autosomal trisomy,,,,,,,,,,, +GARD:19420,Active,Orphanet,ORPHA:98132,Group of disorders,[Category],Partial autosomal trisomy/tetrasomy,,,,,,,,,,, +GARD:19421,Active,Orphanet,ORPHA:98141,Group of disorders,[Category],Total autosomal monosomy,,,,,,,,,,, +GARD:19422,Active,Orphanet,ORPHA:98142,Group of disorders,[Category],Partial autosomal monosomy,[Partial autosomal deletion],,,,,,,,,, +GARD:19423,Active,Orphanet,ORPHA:98152,Group of disorders,[Category],Autosomal uniparental disomy,,,,,,,,,,, +GARD:19424,Active,Orphanet,ORPHA:98153,Group of disorders,[Category],Maternal uniparental disomy,,,,,,,,,,, +GARD:19425,Active,Orphanet,ORPHA:98154,Group of disorders,[Category],Paternal uniparental disomy,,,,,,,,,,, +GARD:19426,Active,Orphanet,ORPHA:98155,Group of disorders,[Category],Sex-chromosome anomaly,[Allosome anomaly],,,,,,,,,, +GARD:19427,Active,Orphanet,ORPHA:98156,Group of disorders,[Category],Sex-chromosome number anomaly,[Allosome number anomaly],,,,,,,,,, +GARD:19428,Active,Orphanet,ORPHA:98157,Group of disorders,[Category],Sex-chromosome structural anomaly,[Allosome structural anomaly],,,,,,,,,, +GARD:19429,Active,Orphanet,ORPHA:98158,Group of disorders,[Category],Chromosome Y structural anomaly,,,,,,,,,,, +GARD:19430,Active,Orphanet,ORPHA:98159,Group of disorders,[Category],Chromosome X structural anomaly,,,,,,,,,,, +GARD:19431,Active,Orphanet,ORPHA:98196,Group of disorders,[Category],Malformation syndrome with hamartosis,[Dysmorphologic diseases with phakomatosis],,,,,,,,,, +GARD:19432,Active,Orphanet,ORPHA:98203,Group of disorders,[Category],Combined dystonia,[Dystonia-plus syndrome],,,,,,,,,, +GARD:19433,Active,Orphanet,ORPHA:98252,Group of disorders,[Category],Infectious encephalitis,,,,,,,,,,, +GARD:19434,Active,Orphanet,ORPHA:98255,Group of disorders,[Category],Chronic encephalitis,,,,,,,,,,, +GARD:19435,Active,Orphanet,ORPHA:98257,Group of disorders,[Category],Neonatal epilepsy syndrome,,,,,,,,,,, +GARD:19436,Active,Orphanet,ORPHA:98258,Group of disorders,[Category],Infantile epilepsy syndrome,,,,,,,,,,, +GARD:19437,Active,Orphanet,ORPHA:98259,Group of disorders,[Category],Childhood-onset epilepsy syndrome,,,,,,,,,,, +GARD:19438,Active,Orphanet,ORPHA:98260,Group of disorders,[Category],Adolescent-onset epilepsy syndrome,,,,,,,,,,, +GARD:19439,Active,Orphanet,ORPHA:98267,Disorder,[Disease],Genetic non-syndromic obesity,[Monogenic obesity due to a leptin-melanocortin pathway anomaly],"A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.",,,,,,,,, +GARD:19440,Active,Orphanet,ORPHA:98282,Group of disorders,[Category],Plasma cell tumor,,,,,,,,,,, +GARD:19441,Active,Orphanet,ORPHA:98287,Group of disorders,[Category],Histiocytic and dendritic cell tumor,,,,,,,,,,, +GARD:19442,Active,Orphanet,ORPHA:98288,Group of disorders,[Category],Macrophage or histiocytic tumor,,,,,,,,,,, +GARD:19443,Active,Orphanet,ORPHA:98290,Group of disorders,[Category],Immunodeficiency-associated lymphoproliferative disease,,,,,,,,,,, +GARD:19444,Active,Orphanet,ORPHA:98301,Group of disorders,[Category],Laminopathy,,,,,,,,,,, +GARD:19445,Active,Orphanet,ORPHA:98313,Group of disorders,[Category],Male infertility due to gonadal dysgenesis,[Male infertility due to testicular dysgenesis],,,,,,,,,, +GARD:19446,Active,Orphanet,ORPHA:98343,Group of disorders,[Category],Male infertility due to obstructive azoospermia,[Male infertility due to impaired sperm transport],,,,,,,,,, +GARD:19447,Active,Orphanet,ORPHA:98349,Group of disorders,[Category],Autosomal dominant isolated diffuse palmoplantar keratoderma,[Autosomal dominant isolated diffuse palmoplantar hyperkeratosis],,,,,,,,,, +GARD:19448,Active,Orphanet,ORPHA:98352,Group of disorders,[Category],Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,[Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19449,Active,Orphanet,ORPHA:98353,Group of disorders,[Category],Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,[Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19450,Active,Orphanet,ORPHA:98356,Group of disorders,[Category],Autosomal recessive isolated diffuse palmoplantar keratoderma,[Autosomal recessive isolated diffuse palmoplantar hyperkeratosis],,,,,,,,,, +GARD:19451,Active,Orphanet,ORPHA:98357,Group of disorders,[Category],Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,[Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19452,Active,Orphanet,ORPHA:98360,Group of disorders,[Category],Constitutional anemia due to iron metabolism disorder,,,,,,,,,,, +GARD:19453,Active,Orphanet,ORPHA:98362,Group of disorders,[Category],Constitutional sideroblastic anemia,,,,,,,,,,, +GARD:19454,Active,Orphanet,ORPHA:98363,Group of disorders,[Category],Rare hemolytic anemia,,,,,,,,,,, +GARD:19455,Active,Orphanet,ORPHA:98364,Group of disorders,[Category],Rare constitutional hemolytic anemia due to a red cell membrane anomaly,,,,,,,,,,, +GARD:19456,Active,Orphanet,ORPHA:98365,Group of disorders,[Clinical group],Hereditary stomatocytosis,[Hereditary stomatocytic disease],,,,,,,,,, +GARD:19457,Active,Orphanet,ORPHA:98366,Group of disorders,[Category],Constitutional hemolytic anemia due to acanthocytosis,[Constitutional hemolytic anemia due to acanthocytic disorder],,,,,,,,,, +GARD:19458,Active,Orphanet,ORPHA:98369,Group of disorders,[Category],Rare constitutional hemolytic anemia due to an enzyme disorder,,,,,,,,,,, +GARD:19459,Active,Orphanet,ORPHA:98370,Group of disorders,[Category],Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies,,,,,,,,,,, +GARD:19460,Active,Orphanet,ORPHA:98372,Group of disorders,[Category],Hemolytic anemia due to a disorder of glycolytic enzymes,,,,,,,,,,, +GARD:19461,Active,Orphanet,ORPHA:98374,Group of disorders,[Category],Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,[Hemolytic anemia due to an erythroenzymopathy],,,,,,,,,, +GARD:19462,Active,Orphanet,ORPHA:98396,Group of disorders,[Category],Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder,,,,,,,,,,, +GARD:19463,Active,Orphanet,ORPHA:98408,Group of disorders,[Category],Constitutional megaloblastic anemia due to folate metabolism disorder,,,,,,,,,,, +GARD:19464,Active,Orphanet,ORPHA:98415,Group of disorders,[Category],Vitamin B12- and folate-independent constitutional megaloblastic anemia,,,,,,,,,,, +GARD:19465,Active,Orphanet,ORPHA:98421,Group of disorders,[Clinical group],Primary acquired red cell aplasia,[Primary autoimmune red cell aplasia],,,,,,,,,, +GARD:19466,Active,Orphanet,ORPHA:98427,Group of disorders,[Clinical group],Polycythemia,,,,,,,,,,, +GARD:19467,Active,Orphanet,ORPHA:98428,Group of disorders,[Category],Secondary polycythemia,[Secondary erythrocytosis],Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).,,,,,,,,, +GARD:19468,Active,Orphanet,ORPHA:98429,Group of disorders,[Category],Rare coagulation disorder,,,,,,,,,,, +GARD:19469,Active,Orphanet,ORPHA:98455,Group of disorders,[Category],Alpha granule disease,,,,,,,,,,, +GARD:19470,Active,Orphanet,ORPHA:98456,Group of disorders,[Category],Dense granule disease,[Delta granule disease],,,,,,,,,, +GARD:19471,Active,Orphanet,ORPHA:98472,Group of disorders,[Category],Skeletal muscle disease,,,,,,,,,,, +GARD:19472,Active,Orphanet,ORPHA:98486,Group of disorders,[Category],Metabolic myopathy,,,,,,,,,,, +GARD:19473,Active,Orphanet,ORPHA:98491,Group of disorders,[Category],Neuromuscular junction disease,,,,,,,,,,, +GARD:19474,Active,Orphanet,ORPHA:98494,Group of disorders,[Category],Acquired neuromuscular junction disease,,,,,,,,,,, +GARD:19475,Active,Orphanet,ORPHA:98495,Group of disorders,[Category],Genetic neuromuscular junction disease,,,,,,,,,,, +GARD:19476,Active,Orphanet,ORPHA:98496,Group of disorders,[Category],Rare peripheral neuropathy,,,,,,,,,,, +GARD:19477,Active,Orphanet,ORPHA:98503,Group of disorders,[Category],Motor neuron disease,[Anterior horn cell disease],,,,,,,,,, +GARD:19478,Active,Orphanet,ORPHA:98505,Group of disorders,[Category],Genetic motor neuron disease,[Genetic anterior horn cell disease],,,,,,,,,, +GARD:19479,Active,Orphanet,ORPHA:98506,Group of disorders,[Category],Acquired motor neuron disease,[Acquired anterior horn cell disease],,,,,,,,,, +GARD:19480,Active,Orphanet,ORPHA:98514,Group of disorders,[Category],Malformation of the cerebellar vermis,,,,,,,,,,, +GARD:19481,Active,Orphanet,ORPHA:98516,Group of disorders,[Category],Malformation of the cerebellar hemispheres,,,,,,,,,,, +GARD:19482,Active,Orphanet,ORPHA:98518,Group of disorders,[Category],Cranial nerve and nuclear aplasia,,,,,,,,,,, +GARD:19483,Active,Orphanet,ORPHA:98519,Group of disorders,[Category],Posterior fossa malformation,,,,,,,,,,, +GARD:19484,Active,Orphanet,ORPHA:98534,Group of disorders,[Category],Neurodegenerative disease with dementia,,,,,,,,,,, +GARD:19485,Active,Orphanet,ORPHA:98535,Group of disorders,[Clinical group],Frontotemporal degeneration with dementia,,,,,,,,,,, +GARD:19486,Active,Orphanet,ORPHA:98538,Group of disorders,[Category],Ataxia with dementia,,,,,,,,,,, +GARD:19487,Active,Orphanet,ORPHA:98539,Group of disorders,[Category],Early-onset ataxia with dementia,,,,,,,,,,, +GARD:19488,Active,Orphanet,ORPHA:98540,Group of disorders,[Category],Late-onset ataxia with dementia,,,,,,,,,,, +GARD:19489,Active,Orphanet,ORPHA:98542,Group of disorders,[Category],Infectious disease with dementia,,,,,,,,,,, +GARD:19490,Active,Orphanet,ORPHA:98543,Group of disorders,[Category],Metabolic disease with dementia,,,,,,,,,,, +GARD:19491,Active,Orphanet,ORPHA:98544,Group of disorders,[Category],Cerebral lipidosis with dementia,,,,,,,,,,, +GARD:19492,Active,Orphanet,ORPHA:98549,Group of disorders,[Category],Rare cerebrovascular dementia,,,,,,,,,,, +GARD:19493,Active,Orphanet,ORPHA:98555,Group of disorders,[Category],Microphthalmia-anophthalmia-coloboma,[Anophthalmia-microphthalmia syndrome],,,,,,,,,, +GARD:19494,Active,Orphanet,ORPHA:98557,Group of disorders,[Category],Syndromic aniridia,,,,,,,,,,, +GARD:19495,Active,Orphanet,ORPHA:98560,Group of disorders,[Category],Rare palpebral disorder,,,,,,,,,,, +GARD:19496,Active,Orphanet,ORPHA:98561,Group of disorders,[Category],Congenital malformation of the eyelid,,,,,,,,,,, +GARD:19497,Active,Orphanet,ORPHA:98563,Group of disorders,[Clinical group],Microblepharon-ablephara syndrome,,,,,,,,,,, +GARD:19498,Active,Orphanet,ORPHA:98564,Group of disorders,[Category],Eyelid border anomaly,,,,,,,,,,, +GARD:19499,Active,Orphanet,ORPHA:98565,Group of disorders,[Category],Syndromic ankyloblepharon filiforme adnatum,[Syndromic ankyloblepharon],,,,,,,,,, +GARD:195,Active,Orphanet,ORPHA:682,Disorder,[Disease],Hyperkalemic periodic paralysis,"[Adynamia episodica hereditaria, Familial hyperPP, Familial hyperkalemic periodic paralysis, Gamstorp disease, Gamstorp episodic adynamy, HYPP, HyperKPP, HyperPP, Hyperkalemic PP, Primary hyperPP, Primary hyperkalemic periodic paralysis]",A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.,[170500],,,,,Hyperkalemic periodic paralysis,TRUE,FALSE,Active +GARD:19500,Active,Orphanet,ORPHA:98566,Group of disorders,[Category],Syndromic eyelid coloboma,[Syndromic palpebral coloboma],,,,,,,,,, +GARD:19501,Active,Orphanet,ORPHA:98567,Group of disorders,[Category],Rare eyelid malposition disorder,[Eyelids malposition disorder],,,,,,,,,, +GARD:19502,Active,Orphanet,ORPHA:98570,Group of disorders,[Category],Congenital ectropion,,,,,,,,,,, +GARD:19503,Active,Orphanet,ORPHA:98571,Group of disorders,[Category],Secondary ectropion,,,,,,,,,,, +GARD:19504,Active,Orphanet,ORPHA:98574,Group of disorders,[Category],Syndromic epicanthus,,,,,,,,,,, +GARD:19505,Active,Orphanet,ORPHA:98575,Group of disorders,[Category],Syndromic telecanthus,,,,,,,,,,, +GARD:19506,Active,Orphanet,ORPHA:98576,Group of disorders,[Category],Syndromic outer canthal malposition,[Malposition of external canthus],,,,,,,,,, +GARD:19507,Active,Orphanet,ORPHA:98578,Group of disorders,[Category],Rare disorder with ptosis,,,,,,,,,,, +GARD:19508,Active,Orphanet,ORPHA:98594,Group of disorders,[Category],Rare eyebrow/eyelash disorder,[Rare eyebrow/eyelashes anomaly],,,,,,,,,, +GARD:19509,Active,Orphanet,ORPHA:98602,Group of disorders,[Category],Rare disorder of the lacrimal apparatus,[Rare lacrimal system disease],,,,,,,,,, +GARD:19510,Active,Orphanet,ORPHA:98604,Group of disorders,[Category],Congenital alacrima,,,,,,,,,,, +GARD:19511,Active,Orphanet,ORPHA:98605,Group of disorders,[Category],Lacrimal drainage system anomaly,[Excretory apparatus of the lacrimal system anomaly],,,,,,,,,, +GARD:19512,Active,Orphanet,ORPHA:98609,Group of disorders,[Category],EEC syndrome and related disorders,"[EEC syndrome and related syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders]",,,,,,,,,, +GARD:19513,Active,Orphanet,ORPHA:98610,Group of disorders,[Category],Rare disorder with conjunctival involvement as a major feature,,,,,,,,,,, +GARD:19514,Active,Orphanet,ORPHA:98618,Group of disorders,[Category],Rare refraction anomaly,,,,,,,,,,, +GARD:19515,Active,Orphanet,ORPHA:98621,Group of disorders,[Category],Rare hyperopia and astigmatism,,,,,,,,,,, +GARD:19516,Active,Orphanet,ORPHA:98622,Group of disorders,[Category],Syndromic hyperopia,,,,,,,,,,, +GARD:19517,Active,Orphanet,ORPHA:98623,Group of disorders,[Category],Syndromic keratoconus,,,,,,,,,,, +GARD:19518,Active,Orphanet,ORPHA:98625,Group of disorders,[Category],Superficial corneal dystrophy,[Anterior corneal dystrophy],"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19519,Active,Orphanet,ORPHA:98626,Group of disorders,[Category],Stromal corneal dystrophy,,"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19520,Active,Orphanet,ORPHA:98627,Group of disorders,[Category],Posterior corneal dystrophy,,"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19521,Active,Orphanet,ORPHA:98628,Group of disorders,[Category],Syndromic corneal dystrophy,,,,,,,,,,, +GARD:19522,Active,Orphanet,ORPHA:98631,Group of disorders,[Category],Congenital malformation of the eye with glaucoma as a major feature,,,,,,,,,,, +GARD:19523,Active,Orphanet,ORPHA:98635,Group of disorders,[Category],Corneodysgenesis,[Corneogoniodysgenesis],,,,,,,,,, +GARD:19524,Active,Orphanet,ORPHA:98638,Group of disorders,[Category],Rare disease with glaucoma as a major feature,,,,,,,,,,, +GARD:19525,Active,Orphanet,ORPHA:98639,Group of disorders,[Category],Rare lens disease,,,,,,,,,,, +GARD:19526,Active,Orphanet,ORPHA:98640,Group of disorders,[Category],Rare disorder with lens opacification,[Rare cataract],,,,,,,,,, +GARD:19527,Active,Orphanet,ORPHA:98641,Group of disorders,[Category],Syndromic cataract,,,,,,,,,,, +GARD:19528,Active,Orphanet,ORPHA:98642,Group of disorders,[Category],Chromosomal anomaly with cataract,,,,,,,,,,, +GARD:19529,Active,Orphanet,ORPHA:98644,Group of disorders,[Category],Metabolic disease with cataract,,,,,,,,,,, +GARD:19530,Active,Orphanet,ORPHA:98646,Group of disorders,[Category],Renal disease with cataract,,,,,,,,,,, +GARD:19531,Active,Orphanet,ORPHA:98648,Group of disorders,[Category],Musculoskeletal disease with cataract,,,,,,,,,,, +GARD:19532,Active,Orphanet,ORPHA:98649,Group of disorders,[Category],Dentocutaneous disease with cataract,,,,,,,,,,, +GARD:19533,Active,Orphanet,ORPHA:98650,Group of disorders,[Category],Craniofacial anomaly with cataract,,,,,,,,,,, +GARD:19534,Active,Orphanet,ORPHA:98652,Group of disorders,[Category],Lens size anomaly,,,,,,,,,,, +GARD:19535,Active,Orphanet,ORPHA:98653,Group of disorders,[Category],Lens position anomaly,,,,,,,,,,, +GARD:19536,Active,Orphanet,ORPHA:98655,Group of disorders,[Category],Lens shape anomaly,,,,,,,,,,, +GARD:19537,Active,Orphanet,ORPHA:98658,Group of disorders,[Category],Color-vision disease,,,,,,,,,,, +GARD:19538,Active,Orphanet,ORPHA:98661,Group of disorders,[Category],Syndromic rod-cone dystrophy,[Syndromic retinitis pigmentosa],,,,,,,,,, +GARD:19539,Active,Orphanet,ORPHA:98668,Group of disorders,[Category],Vitreoretinopathy,,,,,,,,,,, +GARD:19540,Active,Orphanet,ORPHA:98671,Group of disorders,[Category],Hereditary optic neuropathy,,,,,,,,,,, +GARD:19541,Active,Orphanet,ORPHA:98681,Group of disorders,[Category],Rare disorder with strabismus,,,,,,,,,,, +GARD:19542,Active,Orphanet,ORPHA:98683,Group of disorders,[Category],Syndromic disorder with strabismus,[Syndrome with a symptomatic strabismus],,,,,,,,,, +GARD:19543,Active,Orphanet,ORPHA:98684,Group of disorders,[Category],Craniostenosis with strabismus,,,,,,,,,,, +GARD:19544,Active,Orphanet,ORPHA:98685,Group of disorders,[Category],Rare oculomotor nerve disorder,,,,,,,,,,, +GARD:19545,Active,Orphanet,ORPHA:98686,Disorder,[Disease],Congenital trochlear nerve palsy,"[Congenital CNIV palsy, Congenital fourth cranial nerve palsy, Congenital superior oblique palsy]","A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.",,,,,,,,, +GARD:19546,Active,Orphanet,ORPHA:98687,Group of disorders,[Category],Supranuclear eye movement disorder,,,,,,,,,,, +GARD:19547,Active,Orphanet,ORPHA:98688,Group of disorders,[Category],Oculomotor apraxia,,,,,,,,,,, +GARD:19548,Active,Orphanet,ORPHA:98706,Group of disorders,[Category],Oculocutaneous or ocular albinism,,,,,,,,,,, +GARD:19549,Active,Orphanet,ORPHA:98715,Group of disorders,[Category],Uveitis,,,,,,,,,,, +GARD:19550,Active,Orphanet,ORPHA:98716,Group of disorders,[Category],Heart position anomaly,,,,,,,,,,, +GARD:19551,Active,Orphanet,ORPHA:98717,Group of disorders,[Category],Transposition of the great arteries and conotruncal cardiac anomaly,,,,,,,,,,, +GARD:19552,Active,Orphanet,ORPHA:98718,Group of disorders,[Category],Aortic malformation,,,,,,,,,,, +GARD:19553,Active,Orphanet,ORPHA:98719,Group of disorders,[Category],Pulmonary artery or pulmonary branch anomaly,,,,,,,,,,, +GARD:19554,Active,Orphanet,ORPHA:98720,Group of disorders,[Category],Atrioventricular valve anomaly,,,,,,,,,,, +GARD:19555,Active,Orphanet,ORPHA:98721,Group of disorders,[Category],Congenital tricuspid malformation,,,,,,,,,,, +GARD:19556,Active,Orphanet,ORPHA:98724,Group of disorders,[Category],Congenital anomaly of the great arteries,"[Congenital aorta, aortic arch or pulmonary arteries anomaly]",,,,,,,,,, +GARD:19557,Active,Orphanet,ORPHA:98725,Group of disorders,[Category],Ascending aorta anomaly,,,,,,,,,,, +GARD:19558,Active,Orphanet,ORPHA:98727,Group of disorders,[Category],Rare atrial defect and interatrial communication,[Atrial defect and interauricular communication],,,,,,,,,, +GARD:19559,Active,Orphanet,ORPHA:98729,Group of disorders,[Category],Congenital pulmonary veins anomaly,,,,,,,,,,, +GARD:19560,Active,Orphanet,ORPHA:98731,Group of disorders,[Category],Congenital arteriovenous fistula,,"A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.",,,,,,,,, +GARD:19561,Active,Orphanet,ORPHA:98733,Group of disorders,[Category],Noonan syndrome and Noonan-related syndrome,,,,,,,,,,, +GARD:19562,Active,Orphanet,ORPHA:98737,Group of disorders,[Category],Genetic neurological muscular channelopathy,,,,,,,,,,, +GARD:19563,Active,Orphanet,ORPHA:98738,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic sodium channel defect,,,,,,,,,,, +GARD:19564,Active,Orphanet,ORPHA:98739,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic chloride channel defect,,,,,,,,,,, +GARD:19565,Active,Orphanet,ORPHA:98740,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic calcium channel defect,,,,,,,,,,, +GARD:19566,Active,Orphanet,ORPHA:98741,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic potassium channel defect,,,,,,,,,,, +GARD:19567,Active,Orphanet,ORPHA:98742,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic ryanodine receptor defect,,,,,,,,,,, +GARD:19568,Active,Orphanet,ORPHA:98743,Group of disorders,[Category],Genetic neurological channelopathy of the central nervous system,,,,,,,,,,, +GARD:19569,Active,Orphanet,ORPHA:98744,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic sodium channel defect,,,,,,,,,,, +GARD:19570,Active,Orphanet,ORPHA:98745,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic calcium channel defect,,,,,,,,,,, +GARD:19571,Active,Orphanet,ORPHA:98746,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic potassium channel defect,,,,,,,,,,, +GARD:19572,Active,Orphanet,ORPHA:98747,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect,,,,,,,,,,, +GARD:19573,Active,Orphanet,ORPHA:98748,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect,,,,,,,,,,, +GARD:19574,Active,Orphanet,ORPHA:98749,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect,,,,,,,,,,, +GARD:19575,Active,Orphanet,ORPHA:98750,Group of disorders,[Category],Autoimmune neurological channelopathy,,,,,,,,,,, +GARD:19576,Active,Orphanet,ORPHA:98793,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal 15q11q13 deletion,,,,,,,,,,, +GARD:19577,Active,Orphanet,ORPHA:98794,Subtype of disorder,[Etiological subtype],Angelman syndrome due to maternal 15q11q13 deletion,[Angelman syndrome due to maternal monosomy 15q11q13],,,,,,,,,, +GARD:19578,Active,Orphanet,ORPHA:98795,Subtype of disorder,[Etiological subtype],Angelman syndrome due to paternal uniparental disomy of chromosome 15,[UPD(15)pat],,,,,,,,,, +GARD:19579,Active,Orphanet,ORPHA:98797,Disorder,[Malformation syndrome],Isochromosomy Yp,,"Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.",,,,,,,,, +GARD:19580,Active,Orphanet,ORPHA:98798,Disorder,[Malformation syndrome],Isochromosomy Yq,,"Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.",,,,,,,,, +GARD:19581,Active,Orphanet,ORPHA:98815,Subtype of disorder,[Clinical subtype],"Benign childhood occipital epilepsy, Panayiotopoulos type","[Early-onset benign childhood occipital epilepsy, Panayiotopoulos syndrome]","Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.",,,,,,,,, +GARD:19582,Active,Orphanet,ORPHA:98816,Subtype of disorder,[Clinical subtype],"Benign childhood occipital epilepsy, Gastaut type",[Late-onset benign childhood occipital epilepsy],"Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.",,,,,,,,, +GARD:19583,Active,Orphanet,ORPHA:98824,Disorder,[Disease],Atypical chronic myeloid leukemia,[Subacute myeloid leukemia],"A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.",,,,,,,,, +GARD:19584,Active,Orphanet,ORPHA:98825,Disorder,[Disease],Unclassified myelodysplastic/myeloproliferative disease,[Unclassified mixed myelodysplastic/myeloproliferatic syndrome],"A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.",,,,,,,,, +GARD:19585,Active,Orphanet,ORPHA:98826,Disorder,[Disease],Refractory anemia,,Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.,,,,,,,,, +GARD:19586,Active,Orphanet,ORPHA:98827,Disorder,[Disease],Unclassified myelodysplastic syndrome,,Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.,,,,,,,,, +GARD:19587,Active,Orphanet,ORPHA:98831,Disorder,[Disease],Acute myeloid leukemia with 11q23 abnormalities,[AML with 11q23 abnormalities],"A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.",,,,,,,,, +GARD:19588,Active,Orphanet,ORPHA:98832,Disorder,[Disease],Acute myeloid leukemia with minimal differentiation,"[AML M0, Minimally differentiated acute myeloblastic leukemia]","A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.",,,,,,,,, +GARD:19589,Active,Orphanet,ORPHA:98838,Disorder,[Disease],Primary mediastinal large B-cell lymphoma,"[Large cell lymphoma of the mediastinum, Med-DLBCL, Mediastinal diffuse large-cell lymphoma with sclerosis, Primary mediastinal clear cell lymphoma of B-cell type]","A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.",,,,,,,,, +GARD:19590,Active,Orphanet,ORPHA:98839,Disorder,[Disease],Intravascular large B-cell lymphoma,"[Angioendotheliomatosis proliferans systemisata, Angiotropic large cell lymphoma, Intravascular lymphomatosis, Malignant angioendotheliomatosis, Tappeiner-Pfleger disease]","Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.",,,,,,,,, +GARD:19591,Active,Orphanet,ORPHA:98843,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, nodular sclerosis type",,,,,,,,,,, +GARD:19592,Active,Orphanet,ORPHA:98844,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, mixed cellularity type",,,,,,,,,,, +GARD:19593,Active,Orphanet,ORPHA:98845,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, lymphocyte-rich type",,,,,,,,,,, +GARD:19594,Active,Orphanet,ORPHA:98846,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, lymphocyte-depleted type",,,,,,,,,,, +GARD:19595,Active,Orphanet,ORPHA:98848,Disorder,[Disease],Indolent systemic mastocytosis,,"A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.",,,,,,,,, +GARD:19596,Active,Orphanet,ORPHA:98849,Disorder,[Disease],Systemic mastocytosis with associated hematologic neoplasm,"[SM-AHN, SM-AHNMD, Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease]","An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.",,,,,,,,, +GARD:19597,Active,Orphanet,ORPHA:98850,Disorder,[Disease],Aggressive systemic mastocytosis,,"A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.",,,,,,,,, +GARD:19598,Active,Orphanet,ORPHA:98851,Disorder,[Disease],Mast cell leukemia,,"A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).",,,,,,,,, +GARD:19599,Active,Orphanet,ORPHA:98888,Group of disorders,[Clinical group],X-linked complex spastic paraplegia,"[Complex X-linked HSP, Complex X-linked SPG, Complicated X-linked HSP, Complicated X-linked SPG, X-linked complicated spastic paraplegia]",,,,,,,,,, +GARD:196,Legacy,GARD,,,,,,,,,,,,St Anthony's fire,TRUE,FALSE,Active +GARD:19600,Active,Orphanet,ORPHA:98910,Group of disorders,[Clinical group],Alpha-crystallinopathy,[CRYAB-related myofobrillar myopathy],,,,,,,,,, +GARD:19601,Active,Orphanet,ORPHA:98917,Disorder,[Disease],Acute motor and sensory axonal neuropathy,"[AMSAN, Acute motor-sensory axonal GBS, Acute motor-sensory axonal Guillain-Barré syndrome]","A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).",,,,,,,,, +GARD:19602,Active,Orphanet,ORPHA:98918,Disorder,[Disease],Acute motor axonal neuropathy,"[AMAN, Acute pure motor GBS, Acute pure motor Guillain-Barré syndrome]",A rare pure motor axonal form of Guillain-Barré syndrome (GBS).,,,,,,,,, +GARD:19603,Active,Orphanet,ORPHA:98922,Disorder,[Morphological anomaly],Blake pouch cyst,,"Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.",,,,,,,,, +GARD:19604,Active,Orphanet,ORPHA:98933,Subtype of disorder,[Clinical subtype],"Multiple system atrophy, parkinsonian type","[MSA, parkinsonian type, MSA-p]","Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).",,,,,,,,, +GARD:19605,Active,Orphanet,ORPHA:98946,Disorder,[Morphological anomaly],Coloboma of eyelid,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.",,,,,,,,, +GARD:19606,Active,Orphanet,ORPHA:98948,Subtype of disorder,[Clinical subtype],Congenital symblepharon,,,,,,,,,,, +GARD:19607,Active,Orphanet,ORPHA:98950,Subtype of disorder,[Clinical subtype],Partial cryptophthalmia,,,,,,,,,,, +GARD:19608,Active,Orphanet,ORPHA:98951,Subtype of disorder,[Clinical subtype],Inverse Marcus-Gunn phenomenon,,Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.,,,,,,,,, +GARD:19609,Active,Orphanet,ORPHA:98958,Disorder,[Disease],Climatic droplet keratopathy,[Honey-droplet corneal dystrophy],"A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.",,,,,,,,, +GARD:19610,Active,Orphanet,ORPHA:98975,Disorder,[Disease],Congenital hereditary endothelial dystrophy type I,"[Autosomal dominant CHED, Autosomal dominant congenital hereditary endothelial dystrophy, CHED1, CHEDI, Congenital hereditary endothelial dystrophy type 1]","A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.",,,,,,,,, +GARD:19611,Active,Orphanet,ORPHA:98981,Subtype of disorder,[Clinical subtype],Essential iris atrophy,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.",,,,,,,,, +GARD:19612,Active,Orphanet,ORPHA:99003,Disorder,[Disease],Multifocal pattern dystrophy simulating fundus flavimaculatus,[Multifocal pattern dystrophy simulating Stargardt disease],"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.",,,,,,,,, +GARD:19613,Active,Orphanet,ORPHA:99004,Disorder,[Disease],Fundus pulverulentus,,"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.",,,,,,,,, +GARD:19614,Active,Orphanet,ORPHA:99042,Subtype of disorder,[Clinical subtype],Congenitally uncorrected transposition of the great arteries with coarctation,"[Congenitally uncorrected transposition of the great vessels with coarctation, TGA with coarctation]",,,,,,,,,, +GARD:19615,Active,Orphanet,ORPHA:99043,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,"[DORV with subaortic or doubly committed VSD with pulmonary stenosis, DORV, Fallot type, Double outlet right ventricle, Fallot type]",,,,,,,,,, +GARD:19616,Active,Orphanet,ORPHA:99045,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subpulmonary ventricular septal defect,"[DORV with subpulmonary VSD, DORV-TGA, Double outlet right ventricle with transposition of the great arteries, Taussig-Bing syndrome]",,,,,,,,,, +GARD:19617,Active,Orphanet,ORPHA:99046,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,[DORV with non-committed subpulmonary VSD],,,,,,,,,, +GARD:19618,Active,Orphanet,ORPHA:99048,Disorder,[Malformation syndrome],Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,"[APV/PDA, non-Fallot type]","A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.",,,,,,,,, +GARD:19619,Active,Orphanet,ORPHA:99049,Disorder,[Morphological anomaly],Pulmonary artery coming from patent ductus arteriosus,,"Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.",,,,,,,,, +GARD:19620,Active,Orphanet,ORPHA:99052,Subtype of disorder,[Clinical subtype],Discrete fibromuscular subaortic stenosis,,,,,,,,,,, +GARD:19621,Active,Orphanet,ORPHA:99053,Subtype of disorder,[Clinical subtype],Tunnel subaortic stenosis,,,,,,,,,,, +GARD:19622,Active,Orphanet,ORPHA:99054,Subtype of disorder,[Clinical subtype],Valvular pulmonary stenosis,,,,,,,,,,, +GARD:19623,Active,Orphanet,ORPHA:99055,Disorder,[Morphological anomaly],Congenital anomaly of the tricuspid valve chordae,"[Congenital anomaly of tricuspid chordae tendineae, Congenital anomaly of tricuspid tendinous chords]","A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.",,,,,,,,, +GARD:19624,Active,Orphanet,ORPHA:99056,Disorder,[Morphological anomaly],Parachute tricuspid valve,,"Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.",,,,,,,,, +GARD:19625,Active,Orphanet,ORPHA:99058,Disorder,[Morphological anomaly],Hypoplasia of the mitral valve annulus,,"A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.",,,,,,,,, +GARD:19626,Active,Orphanet,ORPHA:99059,Disorder,[Morphological anomaly],Congenital supravalvular mitral ring,,"Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.",,,,,,,,, +GARD:19627,Active,Orphanet,ORPHA:99060,Disorder,[Morphological anomaly],Congenital unguarded mitral orifice,,"Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.",,,,,,,,, +GARD:19628,Active,Orphanet,ORPHA:99061,Disorder,[Morphological anomaly],Accessory mitral valve tissue,,"A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.",,,,,,,,, +GARD:19629,Active,Orphanet,ORPHA:99062,Disorder,[Morphological anomaly],Mitral valve agenesis,,"Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.",,,,,,,,, +GARD:19630,Active,Orphanet,ORPHA:99063,Disorder,[Malformation syndrome],Shone complex,,"Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.",,,,,,,,, +GARD:19631,Active,Orphanet,ORPHA:99064,Subtype of disorder,[Clinical subtype],Straddling and/or overriding mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.",,,,,,,,, +GARD:19632,Active,Orphanet,ORPHA:99070,Subtype of disorder,[Clinical subtype],Aorto-right ventricular tunnel,,,,,,,,,,, +GARD:19633,Active,Orphanet,ORPHA:99071,Subtype of disorder,[Clinical subtype],Aorto-left ventricular tunnel,,,,,,,,,,, +GARD:19634,Active,Orphanet,ORPHA:99072,Disorder,[Morphological anomaly],Congenital patent ductus arteriosus aneurysm,,"A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.",,,,,,,,, +GARD:19635,Active,Orphanet,ORPHA:99075,Disorder,[Morphological anomaly],Encircling double aortic arch,,"Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.",,,,,,,,, +GARD:19636,Active,Orphanet,ORPHA:99076,Disorder,[Morphological anomaly],Persistent fifth aortic arch,,"A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.",,,,,,,,, +GARD:19637,Active,Orphanet,ORPHA:99077,Disorder,[Morphological anomaly],Kommerell diverticulum,,"Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.",,,,,,,,, +GARD:19638,Active,Orphanet,ORPHA:99078,Disorder,[Morphological anomaly],Neuhauser anomaly,,"Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).",,,,,,,,, +GARD:19639,Active,Orphanet,ORPHA:99079,Disorder,[Morphological anomaly],Cervical aortic arch,,"A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.",,,,,,,,, +GARD:19640,Active,Orphanet,ORPHA:99081,Disorder,[Morphological anomaly],Right aortic arch,,,,,,,,,,, +GARD:19641,Active,Orphanet,ORPHA:99082,Disorder,[Morphological anomaly],Dysphagia lusoria,,"A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections.",,,,,,,,, +GARD:19642,Active,Orphanet,ORPHA:99083,Disorder,[Morphological anomaly],Pulmonary artery hypoplasia,"[PAH, Unilateral Pulmonary Artery Hypoplasia]","A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.",,,,,,,,, +GARD:19643,Active,Orphanet,ORPHA:99087,Disorder,[Morphological anomaly],Coronary ostial stenosis or atresia,"[COSA, Congenital coronary arterial orifice stenosis or atresia, Congenital stenosis or atresia of a coronary ostium]","A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.",,,,,,,,, +GARD:19644,Active,Orphanet,ORPHA:99089,Disorder,[Morphological anomaly],Abnormal number of coronary ostia,,"A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.",,,,,,,,, +GARD:19645,Active,Orphanet,ORPHA:99090,Disorder,[Morphological anomaly],Malposition of a coronary ostium,,"A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.",,,,,,,,, +GARD:19646,Active,Orphanet,ORPHA:99094,Disorder,[Morphological anomaly],Laubry-Pezzi syndrome,"[VSD with aortic insufficiency, Ventricular septal defect with aortic insufficiency]","Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.",,,,,,,,, +GARD:19647,Active,Orphanet,ORPHA:99095,Disorder,[Morphological anomaly],Congenital Gerbode defect,[Left ventricular-to-right atrial communication],"A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.",,,,,,,,, +GARD:19648,Active,Orphanet,ORPHA:99100,Disorder,[Morphological anomaly],Juxtaposition of the atrial appendages,[Juxtaposition of the atrial auricles],"Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.",,,,,,,,, +GARD:19649,Active,Orphanet,ORPHA:99101,Disorder,[Morphological anomaly],Ectasia of the right atrial appendage,"[Dilatation of the right atrial appendage, Dilatation of the right atrial auricle, Ectasia of the right atrial auricle]","Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.",,,,,,,,, +GARD:19650,Active,Orphanet,ORPHA:99102,Disorder,[Morphological anomaly],Ectasia of the left atrial appendage,"[Dilatation of the left atrial appendage, Dilatation of the left auricle, Ectasia of the left auricle]","Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.",,,,,,,,, +GARD:19651,Active,Orphanet,ORPHA:99107,Disorder,[Morphological anomaly],Atrial septal aneurysm,,"A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.",,,,,,,,, +GARD:19652,Active,Orphanet,ORPHA:99109,Disorder,[Morphological anomaly],Persistent left superior vena cava connecting through coronary sinus to left-sided atrium,[Persistent left SVC connecting through coronary sinus to left-sided atrium],"A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.",,,,,,,,, +GARD:19653,Active,Orphanet,ORPHA:99110,Disorder,[Morphological anomaly],Right superior vena cava connecting to left-sided atrium,"[Right SVC connecting to left-sided atrium, Right superior caval vein connecting to left-sided atrium]","A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.",,,,,,,,, +GARD:19654,Active,Orphanet,ORPHA:99111,Disorder,[Morphological anomaly],Persistent left superior vena cava connecting to the roof of left-sided atrium,"[Persistent left SVC connecting to left-sided atrium, Persistent left SVC connecting to the roof of left-sided atrium, Persistent left superior vena cava connecting to left-sided atrium]","A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.",,,,,,,,, +GARD:19655,Active,Orphanet,ORPHA:99112,Disorder,[Morphological anomaly],Absence of innominate vein,[Absence of brachiocephalic vein],"A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.",,,,,,,,, +GARD:19656,Active,Orphanet,ORPHA:99113,Disorder,[Morphological anomaly],Subaortic course of innominate vein,[Subaortic course of brachiocephalic vein],"Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.",,,,,,,,, +GARD:19657,Active,Orphanet,ORPHA:99114,Disorder,[Morphological anomaly],Agenesis of the superior vena cava,"[Absence of the SVC, Absence of the superior caval vein, Absence of the superior vena cava, Agenesis of the SVC, Agenesis of the superior caval vein]","A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.",,,,,,,,, +GARD:19658,Active,Orphanet,ORPHA:99117,Disorder,[Morphological anomaly],Coronary sinus stenosis,,"A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect.",,,,,,,,, +GARD:19659,Active,Orphanet,ORPHA:99118,Disorder,[Morphological anomaly],Coronary sinus atresia,,,,,,,,,,, +GARD:19660,Active,Orphanet,ORPHA:99119,Disorder,[Morphological anomaly],Right inferior vena cava connecting to left-sided atrium,"[Right IVC connecting to left-sided atrium, Right inferior caval vein connecting to left-sided atrium]","A rare vascular anomaly characterized by a congenital anomalous connection between the inferior vena cava and the left atrium. Clinical manifestations depend on the presence and nature of additional cardiac defects and include cyanosis, dyspnea, failure to thrive, clubbing of fingers and toes, and potentially heart failure.",,,,,,,,, +GARD:19661,Active,Orphanet,ORPHA:99120,Disorder,[Morphological anomaly],Persistent eustachian valve,,"Persistent eustachian valve is a rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.",,,,,,,,, +GARD:19662,Active,Orphanet,ORPHA:99121,Disorder,[Morphological anomaly],Azygos continuation of the inferior vena cava,"[Azygos continuation of the IVC, Azygos continuation of the inferior caval vein, Inferior vena cava interruption with azygos continuation]","A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.",,,,,,,,, +GARD:19663,Active,Orphanet,ORPHA:99122,Disorder,[Morphological anomaly],Congenital stenosis of the inferior vena cava,"[Congenital stenosis of the IVC, Congenital stenosis of the inferior caval vein]","A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.",,,,,,,,, +GARD:19664,Active,Orphanet,ORPHA:99123,Disorder,[Morphological anomaly],Inferior vena cava interruption without azygos continuation,"[IVC interruption, Inferior caval vein interruption]","A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.",,,,,,,,, +GARD:19665,Active,Orphanet,ORPHA:99124,Disorder,[Morphological anomaly],Congenital partial pulmonary venous return anomaly,,"A form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.",,,,,,,,, +GARD:19666,Active,Orphanet,ORPHA:99129,Disorder,[Morphological anomaly],Congenital complete agenesis of pericardium,,"Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.",,,,,,,,, +GARD:19667,Active,Orphanet,ORPHA:99130,Disorder,[Morphological anomaly],Congenital partial agenesis of pericardium,,"Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.",,,,,,,,, +GARD:19668,Active,Orphanet,ORPHA:99131,Disorder,[Morphological anomaly],Pleuro-pericardial cyst,,"Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.",,,,,,,,, +GARD:19669,Active,Orphanet,ORPHA:99138,Disorder,[Disease],Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,,"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.",,,,,,,,, +GARD:19670,Active,Orphanet,ORPHA:99139,Disorder,[Disease],Unstable hemoglobin disease,,"A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.",,,,,,,,, +GARD:19671,Active,Orphanet,ORPHA:99169,Disorder,[Morphological anomaly],Epiblepharon,,"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.",,,,,,,,, +GARD:19672,Active,Orphanet,ORPHA:99170,Disorder,[Morphological anomaly],Tarsal kink syndrome,,Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.,,,,,,,,, +GARD:19673,Active,Orphanet,ORPHA:99171,Disorder,[Morphological anomaly],Isolated congenital ectropion,,"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.",,,,,,,,, +GARD:19674,Active,Orphanet,ORPHA:99172,Disorder,[Morphological anomaly],Euryblepharon,,"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.",,,,,,,,, +GARD:19675,Active,Orphanet,ORPHA:99176,Disorder,[Morphological anomaly],Congenital eyelid retraction,,"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.",,,,,,,,, +GARD:19676,Active,Orphanet,ORPHA:99226,Subtype of disorder,[Etiological subtype],Monosomy X,,,,,,,,,,, +GARD:19677,Active,Orphanet,ORPHA:99228,Subtype of disorder,[Etiological subtype],Mosaic monosomy X,,,,,,,,,,, +GARD:19678,Active,Orphanet,ORPHA:99324,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 13,[UPD(13)pat],Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19679,Active,Orphanet,ORPHA:99330,Disorder,[Malformation syndrome],"49,XYYYY syndrome",,"A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.",,,,,,,,, +GARD:19680,Active,Orphanet,ORPHA:99408,Group of disorders,[Clinical group],Pituitary adenoma,,,,,,,,,,, +GARD:19681,Active,Orphanet,ORPHA:99413,Subtype of disorder,[Etiological subtype],Turner syndrome due to structural X chromosome anomalies,,,,,,,,,,, +GARD:19682,Active,Orphanet,ORPHA:99647,Disorder,[Disease],Cheirospondyloenchondromatosis,[Generalized enchondromatosis with platyspondyly],"Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.",,,,,,,,, +GARD:19683,Active,Orphanet,ORPHA:99688,Disorder,[Malformation syndrome],Dermotrichic syndrome,,"Dermotrichic syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:19684,Active,Orphanet,ORPHA:99701,Disorder,[Disease],Mesial temporal lobe epilepsy with hippocampal sclerosis,"[HS-MTLE, Hippocampal sclerosis-related mesial temporal lobe epilepsy, MTLE-HS]","Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.",,,,,,,,, +GARD:19685,Active,Orphanet,ORPHA:99704,Disorder,[Disease],Early-onset obesity-hyperphagia-severe developmental delay syndrome,[OBHD],,,,,,,,,, +GARD:19686,Active,Orphanet,ORPHA:99739,Group of disorders,[Category],Rare familial disorder with hypertrophic cardiomyopathy,"[Rare familial disorder with hypertrophic obstructive cardiomyopathy, Rare familial disorder with hypertrophic subaortic stenosis]",,,,,,,,,, +GARD:19687,Active,Orphanet,ORPHA:99771,Disorder,[Morphological anomaly],Bifid uvula,"[Bifidity of the uvula, Uvular cleft]",Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.,,,,,,,,, +GARD:19688,Active,Orphanet,ORPHA:99824,Disorder,[Disease],Lassa fever,"[LF, Lassa hemorrhagic fever]","Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.",,,,,,,,, +GARD:19689,Active,Orphanet,ORPHA:99825,Disorder,[Disease],Nipah virus disease,"[Nipah encephalitis, Nipah fever]","Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.",,,,,,,,, +GARD:19690,Active,Orphanet,ORPHA:99827,Disorder,[Disease],Crimean-Congo hemorrhagic fever,"[CCHF, Congo fever, Congo hemorrhagic fever, Crimean hemorrhagic fever]","Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.",,,,,,,,, +GARD:19691,Active,Orphanet,ORPHA:99856,Disorder,[Morphological anomaly],Primary syringomyelia,[Congenital syringomyelia],"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.",,,,,,,,, +GARD:19692,Active,Orphanet,ORPHA:99857,Disorder,[Disease],Secondary syringomyelia,,"Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.",,,,,,,,, +GARD:19693,Active,Orphanet,ORPHA:99858,Subtype of disorder,[Clinical subtype],Idiopathic syringomyelia,,"Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.",,,,,,,,, +GARD:19694,Active,Orphanet,ORPHA:99861,Disorder,[Disease],Precursor T-cell acute lymphoblastic leukemia,"[Precursor T-cell acute lymphoblastic leukemia/lymphoma, Precursor T-cell acute lymphocytic leukemia, Precursor T-cell acute lymphocytic leukemia/lymphoma, T-ALL]","A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.",,,,,,,,, +GARD:19695,Active,Orphanet,ORPHA:99868,Disorder,[Disease],Thymic carcinoma,[Malignant thymoma],Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.,,,,,,,,, +GARD:19696,Active,Orphanet,ORPHA:99869,Disorder,[Disease],Thymic neuroendocrine carcinoma,,Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.,,,,,,,,, +GARD:19697,Active,Orphanet,ORPHA:99887,Subtype of disorder,[Clinical subtype],Acute megakaryoblastic leukemia in Down syndrome,[DS-AMKL],,,,,,,,,, +GARD:19698,Active,Orphanet,ORPHA:99889,Disorder,[Disease],Cushing syndrome due to ectopic ACTH secretion,"[Adrenocorticotropic hormone secretion syndrome, Ectopic ACTH secreting tumor, Ectopic Cushing syndrome, Occult ectopic ACTH secretion, Paraneoplastic Cushing syndrome]","Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.",,,,,,,,, +GARD:19699,Active,Orphanet,ORPHA:99892,Group of disorders,[Clinical group],ACTH-dependent Cushing syndrome,"[ACTH-dependent CS, Adrenocorticotropic hormone-dependent Cushing syndrome, Corticotropin-dependent Cushing syndrome]","A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).",,,,,,,,, +GARD:19700,Active,Orphanet,ORPHA:99893,Group of disorders,[Clinical group],ACTH-independent Cushing syndrome,"[Adrenal Cushing syndrome, Adrenocorticotropic hormone-independent Cushing syndrome, Corticotropin-independent Cushing syndrome]","A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).",,,,,,,,, +GARD:19701,Active,Orphanet,ORPHA:99903,Subtype of disorder,[Etiological subtype],Spirillary rat-bite fever,[Sodoku],"Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.",,,,,,,,, +GARD:19702,Active,Orphanet,ORPHA:99905,Subtype of disorder,[Etiological subtype],Streptobacillary rat-bite fever,,Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.,,,,,,,,, +GARD:19703,Active,Orphanet,ORPHA:99907,Disorder,[Disease],House allergic alveolitis,,"House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term).",,,,,,,,, +GARD:19704,Active,Orphanet,ORPHA:99909,Group of disorders,[Clinical group],Occupational allergic alveolitis,,"Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise",,,,,,,,, +GARD:19705,Active,Orphanet,ORPHA:99912,Disorder,[Disease],Malignant dysgerminomatous germ cell tumor of the ovary,"[Dysgerminomatous germ cell cancer of the ovary, Malignant ovarian dysgerminoma]","A form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts).",,,,,,,,, +GARD:19706,Active,Orphanet,ORPHA:99913,Group of disorders,[Category],Extragonadal non-dysgerminomatous germ cell tumor,,,,,,,,,,, +GARD:19707,Active,Orphanet,ORPHA:99915,Disorder,[Disease],Maligant granulosa cell tumor of the ovary,"[Granulosa cell cancer, Granulosa cell malignant tumor]","A rare malignant sex cord stromal tumor of ovary arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis.",,,,,,,,, +GARD:19708,Active,Orphanet,ORPHA:99917,Disorder,[Disease],"Theca steroid-producing cell malignant tumor of ovary, not further specified","[Theca (steroid-producing) cell cancer, not further specified]","A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.",,,,,,,,, +GARD:19709,Active,Orphanet,ORPHA:99918,Subtype of disorder,[Etiological subtype],Streptococcal toxic-shock syndrome,[Streptococcal TSS],"Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.",,,,,,,,, +GARD:19710,Active,Orphanet,ORPHA:99919,Subtype of disorder,[Etiological subtype],Staphylococcal toxic-shock syndrome,[Staphylococcal TSS],"Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.",,,,,,,,, +GARD:19711,Active,Orphanet,ORPHA:99925,Disorder,[Disease],Invasive mole,,"A form of gestational trophoblastic neoplasia similar to a hydatidiform mole but with deep invasion into the myometriumand histologically characterized hyperplasia of trophoblasts, generalized cystic degeneration of chorionic villi and the presence of molar villi in the myometrium and/ or uterine blood vessels. Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed.",,,,,,,,, +GARD:19712,Active,Orphanet,ORPHA:99926,Disorder,[Disease],Gestational choriocarcinoma,,"A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age.",,,,,,,,, +GARD:19713,Active,Orphanet,ORPHA:99930,Disorder,[Disease],Secondary pulmonary hemosiderosis,,"Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography",,,,,,,,, +GARD:19714,Active,Orphanet,ORPHA:99932,Subtype of disorder,[Clinical subtype],Heiner syndrome,[Cow's milk hypersensitivity],"Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.",,,,,,,,, +GARD:19715,Active,Orphanet,ORPHA:99933,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 1,,,,,,,,,,, +GARD:19716,Active,Orphanet,ORPHA:99934,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 2,,,,,,,,,,, +GARD:19717,Active,Orphanet,ORPHA:99935,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 3,,,,,,,,,,, +GARD:19718,Active,Orphanet,ORPHA:99965,Disorder,[Disease],O'Sullivan-McLeod syndrome,,A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.,,,,,,,,, +GARD:19719,Active,Orphanet,ORPHA:99969,Subtype of disorder,[Histopathological subtype],Pleomorphic liposarcoma,[PLS],"Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).",,,,,,,,, +GARD:19720,Active,Orphanet,ORPHA:99970,Subtype of disorder,[Histopathological subtype],Dedifferentiated liposarcoma,[DDLS],"Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .",,,,,,,,, +GARD:19721,Active,Orphanet,ORPHA:99971,Subtype of disorder,[Histopathological subtype],Well-differentiated liposarcoma,"[ALT, Atypical lipoma, Atypical lipomatous tumor, WDLS]","Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.",,,,,,,,, +GARD:19722,Active,Orphanet,ORPHA:99981,Disorder,[Disease],Apnea of prematurity,,"A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.",,,,,,,,, +GARD:19723,Active,Orphanet,ORPHA:99983,Group of disorders,[Category],Cutaneous myiasis,,,,,,,,,,, +GARD:19724,Active,Orphanet,ORPHA:99989,Disorder,[Disease],Intermediate DEND syndrome,"[Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form]","A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy.",,,,,,,,, +GARD:19725,Active,Orphanet,ORPHA:99990,Subtype of disorder,[Clinical subtype],Brill-Zinsser disease,"[Brill disease, Recrudescent typhus]",,,,,,,,,, +GARD:19726,Active,Orphanet,ORPHA:99991,Subtype of disorder,[Clinical subtype],Relapsing epidemic typhus,,,,,,,,,,, +GARD:19727,Active,Orphanet,ORPHA:99994,Subtype of disorder,[Clinical subtype],Complex regional pain syndrome type 2,[Causalgia],"Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.",,,,,,,,, +GARD:19728,Active,Orphanet,ORPHA:100000,Subtype of disorder,[Clinical subtype],Reticular perineurioma,,,,,,,,,,, +GARD:19729,Active,Orphanet,ORPHA:100001,Subtype of disorder,[Clinical subtype],Sclerosing perineurioma,,,,,,,,,,, +GARD:19730,Active,Orphanet,ORPHA:100002,Disorder,[Disease],Extraneural perineurioma,[Soft tissue perineurioma],"Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.",,,,,,,,, +GARD:19731,Active,Orphanet,ORPHA:100011,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type A,,"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.",,,,,,,,, +GARD:19732,Active,Orphanet,ORPHA:100012,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type B,,"A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.",,,,,,,,, +GARD:19733,Active,Orphanet,ORPHA:100013,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type C,,"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.",,,,,,,,, +GARD:19734,Active,Orphanet,ORPHA:100014,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type D,,"A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.",,,,,,,,, +GARD:19735,Active,Orphanet,ORPHA:100015,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type E,,"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.",,,,,,,,, +GARD:19736,Active,Orphanet,ORPHA:100016,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type F,,"A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.",,,,,,,,, +GARD:19737,Active,Orphanet,ORPHA:100019,Subtype of disorder,[Clinical subtype],Refractory anemia with excess blasts type 1,[RAEB-1],"A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.",,,,,,,,, +GARD:19738,Active,Orphanet,ORPHA:100020,Subtype of disorder,[Clinical subtype],Refractory anemia with excess blasts type 2,[RAEB-2],"A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.",,,,,,,,, +GARD:19739,Active,Orphanet,ORPHA:100021,Subtype of disorder,[Clinical subtype],Primary plasmacytoma of the bone,,,,,,,,,,, +GARD:19740,Active,Orphanet,ORPHA:100022,Subtype of disorder,[Clinical subtype],Extramedullary soft tissue plasmacytoma,,,,,,,,,,, +GARD:19741,Active,Orphanet,ORPHA:100024,Subtype of disorder,[Clinical subtype],Mu-heavy chain disease,[mu-HCD],A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).,,,,,,,,, +GARD:19742,Active,Orphanet,ORPHA:100025,Subtype of disorder,[Clinical subtype],Alpha-heavy chain disease,"[Alpha-HCD, IPSID, Immunoproliferative small intestinal disease, Mediterranean lymphoma]",A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.,,,,,,,,, +GARD:19743,Active,Orphanet,ORPHA:100035,Disorder,[Disease],Solitary necrotic nodule of the liver,[Hepatic solitary necrotic nodule],"A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.",,,,,,,,, +GARD:19744,Active,Orphanet,ORPHA:100047,Disorder,[Morphological anomaly],Esophageal duplication cyst,,"A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.",,,,,,,,, +GARD:19745,Active,Orphanet,ORPHA:100048,Disorder,[Morphological anomaly],Tubular duplication of the esophagus,,"A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.",,,,,,,,, +GARD:19746,Active,Orphanet,ORPHA:100049,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,[Primary ILD specific to childhood due to pulmonary surfactant protein anomalies],A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.,,,,,,,,, +GARD:19747,Active,Orphanet,ORPHA:100055,Subtype of disorder,[Clinical subtype],Acquired angioedema type 2,"[AAE 2, AAE II, Acquired angioneurotic edema type 2]","A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",,,,,,,,, +GARD:19748,Active,Orphanet,ORPHA:100056,Subtype of disorder,[Clinical subtype],Acquired angioedema type 1,[Acquired angioneurotic edema type 1],"A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",,,,,,,,, +GARD:19749,Active,Orphanet,ORPHA:100073,Subtype of disorder,[Clinical subtype],Neurogenic thoracic outlet syndrome,"[NTOS, Neurogenic TOS, Neurogenic cervical rib syndrome, Neurogenic costoclavicular syndrome, Neurogenic thoracic outlet compression syndrome]","Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.",,,,,,,,, +GARD:1975,Active,Orphanet,ORPHA:237,Disorder,[Morphological anomaly],Duplication of urethra,,"A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.",,,,,,Duplication of urethra,TRUE,FALSE,Active +GARD:19750,Active,Orphanet,ORPHA:100075,Disorder,[Disease],Neuroendocrine tumor of stomach,"[GNET, Gastric NET, Gastric neuroendocrine tumor, NET of stomach]","A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.",,,,,,,,, +GARD:19751,Active,Orphanet,ORPHA:100076,Group of disorders,[Category],Duodenal neuroendocrine tumor,,,,,,,,,,, +GARD:19752,Active,Orphanet,ORPHA:100077,Group of disorders,[Category],Jejunal neuroendocrine tumor,[Jejunal neuroendocrine neoplasm],"Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.",,,,,,,,, +GARD:19753,Active,Orphanet,ORPHA:100078,Disorder,[Disease],Ileal neuroendocrine tumor,[Ileal neuroendocrine neoplasm],"Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.",,,,,,,,, +GARD:19754,Active,Orphanet,ORPHA:100079,Disorder,[Disease],Neuroendocrine neoplasm of appendix,"[Appendiceal NEN, Appendiceal neuroendocrine neoplasm, NEN of appendix]","Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).",,,,,,,,, +GARD:19755,Active,Orphanet,ORPHA:100080,Disorder,[Disease],Neuroendocrine tumor of the colon,"[Colonic NET, NET of the colon, Neuroendocrine neoplasm of the colon]","A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).",,,,,,,,, +GARD:19756,Active,Orphanet,ORPHA:100081,Disorder,[Disease],Neuroendocrine tumor of the rectum,"[NET of the rectum, Rectal NET, Rectal neuroendocrine tumor]","Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.",,,,,,,,, +GARD:19757,Active,Orphanet,ORPHA:100082,Disorder,[Disease],Neuroendocrine tumor of anal canal,[NET of anal canal],"A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).",,,,,,,,, +GARD:19758,Active,Orphanet,ORPHA:100083,Disorder,[Disease],Laryngeal neuroendocrine tumor,,"A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.",,,,,,,,, +GARD:19759,Active,Orphanet,ORPHA:100084,Disorder,[Disease],Middle ear neuroendocrine tumor,,"Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.",,,,,,,,, +GARD:1976,Legacy,GARD,,,,,,,,,,,,Duplication of leg mirror foot,TRUE,FALSE,Active +GARD:19760,Active,Orphanet,ORPHA:100085,Disorder,[Disease],Primary hepatic neuroendocrine carcinoma,,"Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.",,,,,,,,, +GARD:19761,Active,Orphanet,ORPHA:100086,Disorder,[Disease],Gallbladder neuroendocrine tumor,,"A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.",,,,,,,,, +GARD:19762,Active,Orphanet,ORPHA:100087,Group of disorders,[Category],Thyroid tumor,,,,,,,,,,, +GARD:19763,Active,Orphanet,ORPHA:100088,Group of disorders,[Category],Thyroid carcinoma,,,,,,,,,,, +GARD:19764,Active,Orphanet,ORPHA:100090,Group of disorders,[Category],Rare parathyroid tumor,,,,,,,,,,, +GARD:19765,Active,Orphanet,ORPHA:100091,Group of disorders,[Category],Adrenal/paraganglial tumor,,,,,,,,,,, +GARD:19766,Active,Orphanet,ORPHA:100094,Group of disorders,[Category],Multiple polyglandular tumor,,,,,,,,,,, +GARD:19767,Active,Orphanet,ORPHA:100100,Group of disorders,[Category],Thymic tumor,,,,,,,,,,, +GARD:19768,Active,Orphanet,ORPHA:100101,Group of disorders,[Category],Neuroendocrine tumor with other location,,,,,,,,,,, +GARD:19769,Active,Orphanet,ORPHA:100974,Disorder,[Disease],FRAXF syndrome,,"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.",,,,,,,,, +GARD:1977,Legacy,GARD,,,,,,,,,,,,Duplication of the thumb unilateral biphalangeal,TRUE,FALSE,Active +GARD:19770,Active,Orphanet,ORPHA:100979,Group of disorders,[Clinical group],Autosomal dominant complex spastic paraplegia,"[Autosomal dominant complex HSP, Autosomal dominant complex SPG, Autosomal dominant complicated HSP, Autosomal dominant complicated SPG, Autosomal dominant complicated spastic paraplegia]",,,,,,,,,, +GARD:19771,Active,Orphanet,ORPHA:100980,Group of disorders,[Clinical group],Autosomal dominant pure spastic paraplegia,"[Autosomal dominant pure HSP, Autosomal dominant pure SPG, Autosomal dominant uncomplicated HSP, Autosomal dominant uncomplicated SPG, Autosomal dominant uncomplicated spastic paraplegia]",,,,,,,,,, +GARD:19772,Active,Orphanet,ORPHA:100981,Group of disorders,[Clinical group],Autosomal recessive complex spastic paraplegia,"[Autosomal recessive complex HSP, Autosomal recessive complex SPG, Autosomal recessive complicated HSP, Autosomal recessive complicated SPG, Autosomal recessive complicated spastic paraplegia]",,,,,,,,,, +GARD:19773,Active,Orphanet,ORPHA:100982,Group of disorders,[Clinical group],Autosomal recessive pure spastic paraplegia,"[Autosomal recessive pure HSP, Autosomal recessive pure SPG, Autosomal recessive uncomplicated HSP, Autosomal recessive uncomplicated SPG, Autosomal recessive uncomplicated spastic paraplegia]",,,,,,,,,, +GARD:19774,Active,Orphanet,ORPHA:101023,Disorder,[Morphological anomaly],Cleft hard palate,,,,,,,,,,, +GARD:19775,Active,Orphanet,ORPHA:101029,Subtype of disorder,[Clinical subtype],Sub-cortical nodular heterotopia,,,,,,,,,,, +GARD:19776,Active,Orphanet,ORPHA:101043,Subtype of disorder,[Clinical subtype],Congenital aortic valve dysplasia,,,,,,,,,,, +GARD:19777,Active,Orphanet,ORPHA:101071,Subtype of disorder,[Clinical subtype],Unilateral hemispheric polymicrogyria,,,,,,,,,,, +GARD:19778,Active,Orphanet,ORPHA:101096,Disorder,[Disease],Aregenerative anemia,,,,,,,,,,, +GARD:19779,Active,Orphanet,ORPHA:101104,Subtype of disorder,[Clinical subtype],Marin-Amat syndrome,,,,,,,,,,, +GARD:19780,Active,Orphanet,ORPHA:101206,Disorder,[Malformation syndrome],Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,"[APV/ADA, Fallot type, Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome, PVA/ADA, Fallot type]","Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.",,,,,,,,, +GARD:19781,Active,Orphanet,ORPHA:101334,Disorder,[Disease],African tick typhus,,"A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.",,,,,,,,, +GARD:19782,Active,Orphanet,ORPHA:101435,Group of disorders,[Category],Rare genetic eye disease,[Rare genetic ophthalmologic disease],,,,,,,,,, +GARD:19783,Active,Orphanet,ORPHA:101685,Disorder,[Disease],Rare non-syndromic intellectual disability,[Rare NSID],"Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.",,,,,,,,, +GARD:19784,Active,Orphanet,ORPHA:101932,Disorder,[Morphological anomaly],Anomaly of the mitral subvalvular apparatus,,"A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.",,,,,,,,, +GARD:19785,Active,Orphanet,ORPHA:101934,Group of disorders,[Category],Genetic cardiac rhythm disease,,,,,,,,,,, +GARD:19786,Active,Orphanet,ORPHA:101936,Group of disorders,[Category],Rare gastroesophageal disease,,,,,,,,,,, +GARD:19787,Active,Orphanet,ORPHA:101937,Group of disorders,[Category],Rare pancreatic disease,,,,,,,,,,, +GARD:19788,Active,Orphanet,ORPHA:101938,Group of disorders,[Category],Rare vascular liver disease,,,,,,,,,,, +GARD:19789,Active,Orphanet,ORPHA:101939,Group of disorders,[Category],Rare parenchymal liver disease,,,,,,,,,,, +GARD:19790,Active,Orphanet,ORPHA:101940,Group of disorders,[Category],Rare metabolic liver disease,,,,,,,,,,, +GARD:19791,Active,Orphanet,ORPHA:101941,Group of disorders,[Category],Rare biliary tract disease,,,,,,,,,,, +GARD:19792,Active,Orphanet,ORPHA:101943,Group of disorders,[Category],Rare hepatic and biliary tract tumor,,,,,,,,,,, +GARD:19793,Active,Orphanet,ORPHA:101944,Group of disorders,[Category],Rare pulmonary disease,,,,,,,,,,, +GARD:19794,Active,Orphanet,ORPHA:101945,Group of disorders,[Category],Rare bronchopulmonary tumor,,,,,,,,,,, +GARD:19795,Active,Orphanet,ORPHA:101950,Group of disorders,[Category],Rare eye tumor,,,,,,,,,,, +GARD:19796,Active,Orphanet,ORPHA:101952,Group of disorders,[Category],Rare diabetes mellitus,,,,,,,,,,, +GARD:19797,Active,Orphanet,ORPHA:101953,Group of disorders,[Category],Rare dyslipidemia,,,,,,,,,,, +GARD:19798,Active,Orphanet,ORPHA:101954,Group of disorders,[Category],Rare adrenal disease,,,,,,,,,,, +GARD:19799,Active,Orphanet,ORPHA:101955,Group of disorders,[Category],Rare thyroid disease,,,,,,,,,,, +GARD:198,Active,Orphanet,ORPHA:83419,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 3,"[Juvenile spinal muscular atrophy, Kugelberg-Welander disease, SMA type 3, SMA type III, SMA-III, SMA3]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.",[253400],,,,,Spinal muscular atrophy type 3,TRUE,FALSE,Active +GARD:19800,Active,Orphanet,ORPHA:101956,Group of disorders,[Category],Polyendocrinopathy,,,,,,,,,,, +GARD:19801,Active,Orphanet,ORPHA:101957,Group of disorders,[Category],Pituitary deficiency,,,,,,,,,,, +GARD:19802,Active,Orphanet,ORPHA:101958,Group of disorders,[Category],Primary adrenal insufficiency,,,,,,,,,,, +GARD:19803,Active,Orphanet,ORPHA:101959,Group of disorders,[Category],Chronic primary adrenal insufficiency,"[CPAI, Chronic adrenocorticoid insufficiency]",Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.,,,,,,,,, +GARD:19804,Active,Orphanet,ORPHA:101960,Group of disorders,[Category],Genetic chronic primary adrenal insufficiency,,,,,,,,,,, +GARD:19805,Active,Orphanet,ORPHA:101963,Group of disorders,[Category],Acquired chronic primary adrenal insufficiency,,,,,,,,,,, +GARD:19806,Active,Orphanet,ORPHA:101972,Group of disorders,[Clinical group],Combined T and B cell immunodeficiency,,,,,,,,,,, +GARD:19807,Active,Orphanet,ORPHA:101977,Group of disorders,[Category],Immunodeficiency predominantly affecting antibody production,,,,,,,,,,, +GARD:19808,Active,Orphanet,ORPHA:101985,Group of disorders,[Category],Quantitative and/or qualitative congenital phagocyte defect,,,,,,,,,,, +GARD:19809,Active,Orphanet,ORPHA:101987,Group of disorders,[Category],Constitutional neutropenia,,,,,,,,,,, +GARD:19810,Active,Orphanet,ORPHA:101988,Group of disorders,[Category],Primary immunodeficiency due to a defect in innate immunity,,,,,,,,,,, +GARD:19811,Active,Orphanet,ORPHA:101992,Group of disorders,[Category],Immunodeficiency due to a complement cascade protein anomaly,,,,,,,,,,, +GARD:19812,Active,Orphanet,ORPHA:101995,Group of disorders,[Category],Periodic fever syndrome,,,,,,,,,,, +GARD:19813,Active,Orphanet,ORPHA:101997,Group of disorders,[Category],Primary immunodeficiency,,,,,,,,,,, +GARD:19814,Active,Orphanet,ORPHA:101998,Group of disorders,[Category],Rare epilepsy,,,,,,,,,,, +GARD:19815,Active,Orphanet,ORPHA:102000,Group of disorders,[Category],Medullar disease,,,,,,,,,,, +GARD:19816,Active,Orphanet,ORPHA:102002,Group of disorders,[Category],Rare ataxia,,,,,,,,,,, +GARD:19817,Active,Orphanet,ORPHA:102003,Group of disorders,[Category],Rare movement disorder,,,,,,,,,,, +GARD:19818,Active,Orphanet,ORPHA:102005,Group of disorders,[Category],Brain inflammatory disease,,,,,,,,,,, +GARD:19819,Active,Orphanet,ORPHA:102006,Group of disorders,[Category],Neurovascular malformation,,,,,,,,,,, +GARD:19820,Active,Orphanet,ORPHA:102010,Group of disorders,[Category],Other syndrome with lissencephaly as a major feature,,,,,,,,,,, +GARD:19821,Active,Orphanet,ORPHA:102011,Group of disorders,[Clinical group],Lissencephaly type 3,,,,,,,,,,, +GARD:19822,Active,Orphanet,ORPHA:102012,Group of disorders,[Clinical group],Pure hereditary spastic paraplegia,"[Pure HSP, Pure SPG, Pure familial spastic paraplegia, Uncomplicated HSP, Uncomplicated SPG, Uncomplicated familial spastic paraplegia, Uncomplicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:19823,Active,Orphanet,ORPHA:102013,Group of disorders,[Clinical group],Complex hereditary spastic paraplegia,"[Complex HSP, Complex SPG, Complex familial spastic paraplegia, Complicated HSP, Complicated SPG, Complicated familial spastic paraplegia, Complicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:19824,Active,Orphanet,ORPHA:102014,Group of disorders,[Category],Autosomal dominant limb-girdle muscular dystrophy,,,,,,,,,,, +GARD:19825,Active,Orphanet,ORPHA:102015,Group of disorders,[Category],Autosomal recessive limb-girdle muscular dystrophy,,,,,,,,,,, +GARD:19826,Active,Orphanet,ORPHA:102020,Group of disorders,[Category],Autosomal monosomy,[Autosomal deletion],,,,,,,,,, +GARD:19827,Active,Orphanet,ORPHA:102021,Group of disorders,[Category],Rickettsial disease,[Rickettsiae disease],,,,,,,,,, +GARD:19828,Active,Orphanet,ORPHA:102022,Group of disorders,[Category],Spotted fever rickettsiosis,[Spotted fever rickettsiae disease],,,,,,,,,, +GARD:19829,Active,Orphanet,ORPHA:102023,Group of disorders,[Category],Typhus-group rickettsiosis,[Typhus-group rickettsiae disease],,,,,,,,,, +GARD:1983,Legacy,GARD,,,,,,,,,,,,Dupont Sellier Chochillon syndrome,TRUE,FALSE,Active +GARD:19830,Active,Orphanet,ORPHA:102024,Group of disorders,[Category],Human herpesvirus 8-related disorder,[HHV-8-related disorder],,,,,,,,,, +GARD:19831,Active,Orphanet,ORPHA:102237,Group of disorders,[Category],Unexplained periodic fever syndrome,,,,,,,,,,, +GARD:19832,Active,Orphanet,ORPHA:102283,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome-intellectual disability,"[MCA/MR, Multiple congenital anomalies-intellectual disability with or without dysmorphism]",,,,,,,,,, +GARD:19833,Active,Orphanet,ORPHA:102285,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"[MCA without intellectual disability, Multiple congenital anomalies without intellectual disability with or without dysmorphism]",,,,,,,,,, +GARD:19834,Active,Orphanet,ORPHA:102369,Group of disorders,[Category],Rare syndromic intellectual disability,,,,,,,,,,, +GARD:19835,Active,Orphanet,ORPHA:102379,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,[AML and myelodysplastic syndromes related to alkylating agent],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).",,,,,,,,, +GARD:19836,Active,Orphanet,ORPHA:102381,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,[AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.",,,,,,,,, +GARD:19837,Active,Orphanet,ORPHA:102724,Disorder,[Disease],Acute myeloid leukemia with t(8;21)(q22;q22) translocation,[AML with t(8;21)(q22;q22) translocation],"A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.",,,,,,,,, +GARD:19838,Active,Orphanet,ORPHA:103907,Disorder,[Disease],Chronic diarrhea due to glucoamylase deficiency,[Maltase-glucoamylase deficiency],"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.",,,,,,,,, +GARD:19839,Active,Orphanet,ORPHA:103910,Disorder,[Disease],Congenital enterocyte heparan sulfate deficiency,,"A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.",,,,,,,,, +GARD:1984,Legacy,GARD,,,,,,,,,,,,Dwarfism bluish sclerae,TRUE,FALSE,Active +GARD:19840,Active,Orphanet,ORPHA:103920,Disorder,[Disease],Undetermined colitis,,Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.,,,,,,,,, +GARD:19841,Active,Orphanet,ORPHA:104003,Group of disorders,[Category],Congenital intestinal transport defect,,,,,,,,,,, +GARD:19842,Active,Orphanet,ORPHA:104004,Group of disorders,[Category],Intestinal disease due to vitamin absorption anomaly,,,,,,,,,,, +GARD:19843,Active,Orphanet,ORPHA:104005,Group of disorders,[Category],Intestinal disease due to fat malabsorption,,,,,,,,,,, +GARD:19844,Active,Orphanet,ORPHA:104006,Group of disorders,[Category],Congenital intestinal disease due to an enzymatic defect,,,,,,,,,,, +GARD:19845,Active,Orphanet,ORPHA:104007,Group of disorders,[Category],Congenital enteropathy involving intestinal mucosa development,,,,,,,,,,, +GARD:19846,Active,Orphanet,ORPHA:104009,Group of disorders,[Category],Rare disease involving intestinal motility,,,,,,,,,,, +GARD:19847,Active,Orphanet,ORPHA:104010,Group of disorders,[Clinical group],Intestinal polyposis syndrome,,,,,,,,,,, +GARD:19848,Active,Orphanet,ORPHA:104011,Group of disorders,[Category],Rare tumor of intestine,"[Rare intestinal tumor, Rare tumor of bowel]",,,,,,,,,, +GARD:19849,Active,Orphanet,ORPHA:104012,Group of disorders,[Category],Rare inflammatory bowel disease,,,,,,,,,,, +GARD:1985,Legacy,GARD,,,,,,,,,,,,Dwarfism deafness retinitis pigmentosa,TRUE,FALSE,Active +GARD:19850,Active,Orphanet,ORPHA:104013,Group of disorders,[Category],Metabolic disease with intestinal involvement,,,,,,,,,,, +GARD:19851,Active,Orphanet,ORPHA:104075,Disorder,[Disease],Adenocarcinoma of the small intestine,[Adenocarcinoma of the small bowel],"Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.",,,,,,,,, +GARD:19852,Active,Orphanet,ORPHA:104076,Disorder,[Disease],Leiomyosarcoma of small intestine,,"Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.",,,,,,,,, +GARD:19853,Active,Orphanet,ORPHA:104077,Subtype of disorder,[Etiological subtype],Myopathic intestinal pseudoobstruction,,,,,,,,,,, +GARD:19854,Active,Orphanet,ORPHA:104078,Subtype of disorder,[Etiological subtype],Unclassified intestinal pseudoobstruction,,,,,,,,,,, +GARD:19855,Active,Orphanet,ORPHA:108959,Group of disorders,[Category],Non-syndromic esophageal malformation,,,,,,,,,,, +GARD:19856,Active,Orphanet,ORPHA:108961,Group of disorders,[Category],Syndromic esophageal malformation,,,,,,,,,,, +GARD:19857,Active,Orphanet,ORPHA:108963,Group of disorders,[Category],Non-syndromic gastroduodenal malformation,,,,,,,,,,, +GARD:19858,Active,Orphanet,ORPHA:108965,Group of disorders,[Category],Syndromic gastroduodenal malformation,,,,,,,,,,, +GARD:19859,Active,Orphanet,ORPHA:108967,Group of disorders,[Category],Non-syndromic intestinal malformation,,,,,,,,,,, +GARD:1986,Legacy,GARD,,,,,,,,,,,,Dwarfism lethal type advanced bone age,TRUE,FALSE,Active +GARD:19860,Active,Orphanet,ORPHA:108969,Group of disorders,[Category],Syndromic intestinal malformation,,,,,,,,,,, +GARD:19861,Active,Orphanet,ORPHA:108971,Group of disorders,[Category],Non-syndromic visceral malformation,,,,,,,,,,, +GARD:19862,Active,Orphanet,ORPHA:108973,Group of disorders,[Category],Syndromic visceral malformation,,,,,,,,,,, +GARD:19863,Active,Orphanet,ORPHA:108977,Group of disorders,[Category],Non-syndromic diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19864,Active,Orphanet,ORPHA:108979,Group of disorders,[Category],Syndromic diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19865,Active,Orphanet,ORPHA:108989,Group of disorders,[Category],Non-syndromic central nervous system malformation,,,,,,,,,,, +GARD:19866,Active,Orphanet,ORPHA:108991,Group of disorders,[Category],Syndrome with a central nervous system malformation as a major feature,,,,,,,,,,, +GARD:19867,Active,Orphanet,ORPHA:108993,Group of disorders,[Category],Non-syndromic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19868,Active,Orphanet,ORPHA:108995,Group of disorders,[Category],Syndromic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19869,Active,Orphanet,ORPHA:108997,Group of disorders,[Category],Rare anemia,,,,,,,,,,, +GARD:19870,Active,Orphanet,ORPHA:109007,Group of disorders,[Category],Arthrogryposis syndrome,,,,,,,,,,, +GARD:19871,Active,Orphanet,ORPHA:109009,Group of disorders,[Category],Syndrome with limb malformations as a major feature,,,,,,,,,,, +GARD:19872,Active,Orphanet,ORPHA:109011,Group of disorders,[Category],Non-syndromic limb malformation,,,,,,,,,,, +GARD:19873,Active,Orphanet,ORPHA:117569,Group of disorders,[Category],Rare intestinal disease,,,,,,,,,,, +GARD:19874,Active,Orphanet,ORPHA:117573,Group of disorders,[Category],Syndromic anorectal malformation,,,,,,,,,,, +GARD:19875,Active,Orphanet,ORPHA:137577,Disorder,[Particular clinical situation in a disease or syndrome],Neonatal hypoxic and ischemic brain injury,"[HIE, Hypoxic and ischemic brain injury in the newborn, Hypoxic-ischemic encephalopathy, Perinatal asphyxia, Perinatal hypoxia]","A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.",,,,,,,,, +GARD:19876,Active,Orphanet,ORPHA:137583,Disorder,[Disease],Vulvar intraepithelial neoplasia,"[VIN, Vulvar intraepithelial tumor]","A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritis/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosis or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.",,,,,,,,, +GARD:19877,Active,Orphanet,ORPHA:137593,Disorder,[Disease],Infectious epithelial keratitis,,"Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.",,,,,,,,, +GARD:19878,Active,Orphanet,ORPHA:137596,Disorder,[Disease],Neurotrophic keratopathy,[Neurotrophic keratitis],"Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.",,,,,,,,, +GARD:19879,Active,Orphanet,ORPHA:137599,Disorder,[Disease],Herpes simplex virus stromal keratitis,,"Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.",,,,,,,,, +GARD:1988,Legacy,GARD,,,,,,,,,,,,Dwarfism,FALSE,FALSE,Active +GARD:19880,Active,Orphanet,ORPHA:137602,Disorder,[Disease],Corneal endotheliitis,,"A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.",,,,,,,,, +GARD:19881,Active,Orphanet,ORPHA:137608,Disorder,[Malformation syndrome],Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,[SOLAMEN syndrome],"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.",,,,,,,,, +GARD:19882,Active,Orphanet,ORPHA:137622,Disorder,[Malformation syndrome],Intractable diarrhea-choanal atresia-eye anomalies syndrome,,"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.",,,,,,,,, +GARD:19883,Active,Orphanet,ORPHA:137628,Disorder,[Malformation syndrome],Cardiac anomalies-heterotaxy syndrome,,"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.",,,,,,,,, +GARD:19884,Active,Orphanet,ORPHA:137698,Disorder,[Particular clinical situation in a disease or syndrome],Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,[CMV disease in patients with impaired cell mediated immunity deemed at risk],,,,,,,,,, +GARD:19885,Active,Orphanet,ORPHA:137814,Disorder,[Disease],Macular amyloidosis,,"Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.",,,,,,,,, +GARD:19886,Active,Orphanet,ORPHA:137820,Disorder,[Disease],Extrapelvic endometriosis,[Endometriosis outside pelvis],"A rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.",,,,,,,,, +GARD:19887,Active,Orphanet,ORPHA:137867,Disorder,[Disease],Madras motor neuron disease,[MMND],"Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.",,,,,,,,, +GARD:19888,Active,Orphanet,ORPHA:137905,Group of disorders,[Category],Syndromic optic nerve hypoplasia,,,,,,,,,,, +GARD:19889,Active,Orphanet,ORPHA:137917,Subtype of disorder,[Clinical subtype],"Choanal atresia, unilateral",,"Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.",,,,,,,,, +GARD:1989,Legacy,GARD,,,,,,,,,,,,Dwarfism stiff joint ocular abnormalities,TRUE,FALSE,Retired +GARD:19890,Active,Orphanet,ORPHA:137920,Subtype of disorder,[Clinical subtype],"Choanal atresia, bilateral",,"Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.",,,,,,,,, +GARD:19891,Active,Orphanet,ORPHA:137926,Disorder,[Malformation syndrome],Primary laryngeal lymphangioma,,"Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.",,,,,,,,, +GARD:19892,Active,Orphanet,ORPHA:137929,Disorder,[Disease],Neonatal brainstem dysfunction,,"Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.",,,,,,,,, +GARD:19893,Active,Orphanet,ORPHA:137935,Disorder,[Disease],Laryngotracheal angioma,,"A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial (""beard"") distribution.",,,,,,,,, +GARD:19894,Active,Orphanet,ORPHA:138041,Group of disorders,[Category],Pierre Robin syndrome associated with collagen disease,[Pierre Robin sequence associated with collagen disease],,,,,,,,,, +GARD:19895,Active,Orphanet,ORPHA:138044,Group of disorders,[Category],Rare disease with Pierre Robin syndrome,,,,,,,,,,, +GARD:19896,Active,Orphanet,ORPHA:138047,Group of disorders,[Category],Pierre Robin syndrome associated with a chromosomal anomaly,[Pierre Robin sequence associated with a chromosomal anomaly],,,,,,,,,, +GARD:19897,Active,Orphanet,ORPHA:138050,Group of disorders,[Category],Pierre Robin syndrome associated with branchial archs anomalies,[Pierre Robin sequence associated with branchial archs anomalies],,,,,,,,,, +GARD:19898,Active,Orphanet,ORPHA:138055,Group of disorders,[Category],Pierre Robin syndrome associated with bone disease,[Pierre Robin sequence associated with bone disease],,,,,,,,,, +GARD:19899,Active,Orphanet,ORPHA:138059,Group of disorders,[Category],Teratogenic Pierre Robin syndrome,[Teratogenic Pierre Robin sequence],,,,,,,,,, +GARD:199,Legacy,GARD,,,,,,,,,,,,Cardiac hydatid cysts with intracavitary expansion,TRUE,FALSE,Active +GARD:1990,Legacy,GARD,,,,,,,,,,,,Syndesmodysplasic dwarfism,TRUE,FALSE,Retired +GARD:19900,Active,Orphanet,ORPHA:139009,Group of disorders,[Category],Developmental anomaly of metabolic origin,,,,,,,,,,, +GARD:19901,Active,Orphanet,ORPHA:139012,Group of disorders,[Category],Rare bone development disorder,[Rare skeletal development disorder],,,,,,,,,, +GARD:19902,Active,Orphanet,ORPHA:139021,Group of disorders,[Category],Malformation syndrome with short stature,,,,,,,,,,, +GARD:19903,Active,Orphanet,ORPHA:139024,Group of disorders,[Category],Overgrowth/obesity syndrome,,,,,,,,,,, +GARD:19904,Active,Orphanet,ORPHA:139027,Group of disorders,[Category],Rare developmental defect with skin/mucosae involvement,,,,,,,,,,, +GARD:19905,Active,Orphanet,ORPHA:139030,Group of disorders,[Category],Rare developmental defect with connective tissue involvement,,,,,,,,,,, +GARD:19906,Active,Orphanet,ORPHA:139033,Group of disorders,[Category],Progeroid syndrome,,,,,,,,,,, +GARD:19907,Active,Orphanet,ORPHA:139036,Group of disorders,[Category],Branchial arch or oral-acral syndrome,,,,,,,,,,, +GARD:19908,Active,Orphanet,ORPHA:139039,Group of disorders,[Category],Orofacial clefting syndrome,,,,,,,,,,, +GARD:19909,Active,Orphanet,ORPHA:139042,Group of disorders,[Category],Malformation syndrome with odontal and/or periodontal component,,,,,,,,,,, +GARD:1991,Legacy,GARD,,,,,,,,,,,,Dwarfism tall vertebrae,TRUE,FALSE,Retired +GARD:19910,Active,Orphanet,ORPHA:139390,Group of disorders,[Clinical group],Non-syndromic craniosynostosis,[Isolated craniosynostosis],,,,,,,,,, +GARD:19911,Active,Orphanet,ORPHA:139393,Group of disorders,[Category],Syndromic craniosynostosis,,,,,,,,,,, +GARD:19912,Active,Orphanet,ORPHA:139414,Disorder,[Disease],Congenital panfollicular nevus,,"Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.",,,,,,,,, +GARD:19913,Active,Orphanet,ORPHA:139417,Disorder,[Disease],Acute transverse myelitis,,A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).,,,,,,,,, +GARD:19914,Active,Orphanet,ORPHA:139423,Subtype of disorder,[Clinical subtype],Idiopathic acute transverse myelitis,,"A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.",,,,,,,,, +GARD:19915,Active,Orphanet,ORPHA:139426,Disorder,[Disease],Perioral myoclonia with absences,[POMA],"A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.",,,,,,,,, +GARD:19916,Active,Orphanet,ORPHA:139431,Disorder,[Disease],Jeavons syndrome,"[EMEA, Eyelid myoclonia with and without absences]","A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.",,,,,,,,, +GARD:19917,Active,Orphanet,ORPHA:139444,Disorder,[Disease],Leukoencephalopathy with bilateral anterior temporal lobe cysts,,"A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.",,,,,,,,, +GARD:19918,Active,Orphanet,ORPHA:139447,Disorder,[Disease],Progressive cavitating leukoencephalopathy,,"A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.",,,,,,,,, +GARD:19919,Active,Orphanet,ORPHA:139512,Disorder,[Disease],Neuropathy with hearing impairment,,This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.,,,,,,,,, +GARD:1992,Legacy,GARD,,,,,,,,,,,,Dwarfism thin bones multiple fractures,TRUE,FALSE,Active +GARD:19920,Active,Orphanet,ORPHA:139573,Disorder,[Disease],Hereditary sensory and autonomic neuropathy with deafness and global delay,"[HSAN with deafness and global delay, HSAN with hearing loss and global delay, Hereditary sensory and autonomic neuropathy with hearing loss and global delay]","This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.",,,,,,,,, +GARD:19921,Active,Orphanet,ORPHA:140162,Group of disorders,[Category],Inherited cancer-predisposing syndrome,,,,,,,,,,, +GARD:19922,Active,Orphanet,ORPHA:140286,Disorder,[Disease],Secondary hypoparathyroidism due to impaired parathormon secretion,,,,,,,,,,, +GARD:19923,Active,Orphanet,ORPHA:140453,Group of disorders,[Category],Autosomal dominant hereditary demyelinating motor and sensory neuropathy,,,,,,,,,,, +GARD:19924,Active,Orphanet,ORPHA:140456,Group of disorders,[Category],Autosomal dominant hereditary axonal motor and sensory neuropathy,,,,,,,,,,, +GARD:19925,Active,Orphanet,ORPHA:140459,Group of disorders,[Category],Autosomal recessive hereditary demyelinating motor and sensory neuropathy,,,,,,,,,,, +GARD:19926,Active,Orphanet,ORPHA:140465,Group of disorders,[Category],Autosomal dominant distal hereditary motor neuropathy,"[Autosomal dominant dHMN, Autosomal dominant distal spinal muscular atrophy]",,,,,,,,,, +GARD:19927,Active,Orphanet,ORPHA:140468,Group of disorders,[Category],Autosomal recessive distal hereditary motor neuropathy,"[Autosomal recessive dHMN, Autosomal recessive dSMA, Autosomal recessive distal spinal muscular atrophy]",,,,,,,,,, +GARD:19928,Active,Orphanet,ORPHA:140474,Group of disorders,[Category],Autosomal dominant hereditary sensory and autonomic neuropathy,,,,,,,,,,, +GARD:19929,Active,Orphanet,ORPHA:140477,Group of disorders,[Category],Autosomal recessive hereditary sensory and autonomic neuropathy,,,,,,,,,,, +GARD:1993,Active,Orphanet,ORPHA:2274,Disorder,[Disease],Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,[Dykes-Marks-Harper syndrome],"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.",[242520],,,,,Dykes Markes Harper syndrome,TRUE,FALSE,Active +GARD:19930,Active,Orphanet,ORPHA:140653,Group of disorders,[Category],Neuro-ophthalmological disease,,,,,,,,,,, +GARD:19931,Active,Orphanet,ORPHA:140874,Group of disorders,[Category],Joubert syndrome and related disorders,[JSRD],"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.",,,,,,,,, +GARD:19932,Active,Orphanet,ORPHA:140933,Disorder,[Disease],Linear atrophoderma of Moulin,,"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.",,,,,,,,, +GARD:19933,Active,Orphanet,ORPHA:140949,Disorder,[Particular clinical situation in a disease or syndrome],Low-flow priapism,,,,,,,,,,, +GARD:19934,Active,Orphanet,ORPHA:141013,Disorder,[Morphological anomaly],First branchial cleft anomaly,"[First branchial cleft cyst, First branchial cleft fistula]","A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.",,,,,,,,, +GARD:19935,Active,Orphanet,ORPHA:141030,Disorder,[Morphological anomaly],Third branchial cleft anomaly,"[Third branchial cleft cyst, Third branchial cleft fistula]","A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia,and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.",,,,,,,,, +GARD:19936,Active,Orphanet,ORPHA:141037,Disorder,[Morphological anomaly],Fourth branchial cleft anomaly,"[Fourth branchial cleft cyst, Fourth branchial cleft fistula]","A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.",,,,,,,,, +GARD:19937,Active,Orphanet,ORPHA:141046,Disorder,[Morphological anomaly],Cervical dermoid cyst,[Dermoid cyst of the neck],"Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.",,,,,,,,, +GARD:19938,Active,Orphanet,ORPHA:141051,Disorder,[Morphological anomaly],Facial dermoid cyst,[Dermoid cyst of the face],"Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.",,,,,,,,, +GARD:19939,Active,Orphanet,ORPHA:141061,Disorder,[Morphological anomaly],Commissural lip fistula,,"A rare otorhinolaryngological malformation characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.",,,,,,,,, +GARD:1994,Active,Orphanet,ORPHA:1765,Disorder,[Malformation syndrome],Dyschondrosteosis-nephritis syndrome,,"Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.",[127350],,,,,Dyschondrosteosis nephritis,TRUE,FALSE,Active +GARD:19940,Active,Orphanet,ORPHA:141064,Disorder,[Morphological anomaly],Lower lip fistula,,"A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.",,,,,,,,, +GARD:19941,Active,Orphanet,ORPHA:141067,Disorder,[Morphological anomaly],Cervicofacial fibrochondroma,,"A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.",,,,,,,,, +GARD:19942,Active,Orphanet,ORPHA:141071,Disorder,[Morphological anomaly],Digestive duplication cyst of the tongue,"[Enteric duplication cyst of the tongue, Foregut duplication cyst of the tongue, Gastric duplication cyst of the tongue]","Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.",,,,,,,,, +GARD:19943,Active,Orphanet,ORPHA:141077,Subtype of disorder,[Clinical subtype],Epignathus,[Oropharyngeal teratoma],"Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.",,,,,,,,, +GARD:19944,Active,Orphanet,ORPHA:141083,Disorder,[Morphological anomaly],Nasolacrimal duct cyst,"[Dacryocele, Dacryocystocele, Nasolacrimal mucocele]","Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.",,,,,,,,, +GARD:19945,Active,Orphanet,ORPHA:141091,Disorder,[Malformation syndrome],Polyrrhinia,"[Double nose, Polyrhinia]","Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.",,,,,,,,, +GARD:19946,Active,Orphanet,ORPHA:141096,Disorder,[Malformation syndrome],Supernumerary nostril,[Accessory nostril],"Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.",,,,,,,,, +GARD:19947,Active,Orphanet,ORPHA:141099,Disorder,[Malformation syndrome],Proboscis lateralis,[Congenital tubular nose],"Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).",,,,,,,,, +GARD:19948,Active,Orphanet,ORPHA:141107,Subtype of disorder,[Clinical subtype],Nasopharyngeal teratoma,[Teratoma of the nasopharynx],,,,,,,,,, +GARD:19949,Active,Orphanet,ORPHA:141112,Disorder,[Disease],Nasal glial heterotopia,[Nasal glioma],"Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.",,,,,,,,, +GARD:19950,Active,Orphanet,ORPHA:141115,Subtype of disorder,[Clinical subtype],Nasal ganglioglioma,,"Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.",,,,,,,,, +GARD:19951,Active,Orphanet,ORPHA:141118,Subtype of disorder,[Clinical subtype],Nasal encephalocele,,"Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.",,,,,,,,, +GARD:19952,Active,Orphanet,ORPHA:141121,Disorder,[Malformation syndrome],Congenital subglottic stenosis,,"A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.",,,,,,,,, +GARD:19953,Active,Orphanet,ORPHA:141124,Disorder,[Morphological anomaly],Congenital laryngeal cyst,,"Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.",,,,,,,,, +GARD:19954,Active,Orphanet,ORPHA:141163,Disorder,[Malformation syndrome],Glossopalatine ankylosis,[Cosack syndrome],Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.,,,,,,,,, +GARD:19955,Active,Orphanet,ORPHA:141168,Disorder,[Malformation syndrome],Frontonasal arteriovenous malformation,,"Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.",,,,,,,,, +GARD:19956,Active,Orphanet,ORPHA:141171,Disorder,[Malformation syndrome],Maxillary arteriovenous malformation,[Arteriovenous malformation of maxilla],"Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.",,,,,,,,, +GARD:19957,Active,Orphanet,ORPHA:141174,Disorder,[Malformation syndrome],Mandibular arteriovenous malformation,[Arteriovenous malformation of mandible],"Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.",,,,,,,,, +GARD:19958,Active,Orphanet,ORPHA:141184,Disorder,[Disease],Rapidly involuting congenital hemangioma,[RICH],Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.,,,,,,,,, +GARD:19959,Active,Orphanet,ORPHA:141194,Disorder,[Malformation syndrome],Cerebrofacial arteriovenous metameric syndrome type 1,[CAMS1],"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.",,,,,,,,, +GARD:1996,Active,Orphanet,ORPHA:241,Disorder,[Disease],Dyschromatosis universalis hereditaria,,"A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.","[127500, 612715, 615402]",,,,,Dyschromatosis universalis hereditaria,TRUE,FALSE,Active +GARD:19960,Active,Orphanet,ORPHA:141199,Disorder,[Malformation syndrome],Cerebrofacial arteriovenous metameric syndrome type 3,[CAMS3],"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.",,,,,,,,, +GARD:19961,Active,Orphanet,ORPHA:141209,Disorder,[Malformation syndrome],Diffuse lymphatic malformation,"[Diffuse lymphangioma, Diffuse lymphangiomatosis, Disseminated lymphangioma, Disseminated lymphangiomatosis, Disseminated lymphatic malformation, GLA, Generalized lymphatic anomaly]","A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.",,,,,,,,, +GARD:19962,Active,Orphanet,ORPHA:141214,Disorder,[Malformation syndrome],Isolated congenital syngnathia,[Isolated congenital maxillomandibular fusion],"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.",,,,,,,,, +GARD:19963,Active,Orphanet,ORPHA:141219,Disorder,[Morphological anomaly],Nasal dorsum fistula,,"A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.",,,,,,,,, +GARD:19964,Active,Orphanet,ORPHA:141229,Group of disorders,[Category],Facial cleft,[Craniofacial cleft],,,,,,,,,, +GARD:19965,Active,Orphanet,ORPHA:141234,Group of disorders,[Clinical group],Median facial cleft,"[Midline facial cleft, Tessier number 0-14 and 30 facial cleft]",,,,,,,,,, +GARD:19966,Active,Orphanet,ORPHA:141239,Disorder,[Morphological anomaly],Median cleft of the upper lip and maxilla,,"Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.",,,,,,,,, +GARD:19967,Active,Orphanet,ORPHA:141253,Group of disorders,[Clinical group],Oblique facial cleft,[Orbitofacial cleft],,,,,,,,,, +GARD:19968,Active,Orphanet,ORPHA:141261,Disorder,[Morphological anomaly],Tessier number 5 facial cleft,,"A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.",,,,,,,,, +GARD:19969,Active,Orphanet,ORPHA:141265,Disorder,[Morphological anomaly],Tessier number 6 facial cleft,,"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.",,,,,,,,, +GARD:19970,Active,Orphanet,ORPHA:141269,Group of disorders,[Clinical group],Lateral facial cleft,,,,,,,,,,, +GARD:19971,Active,Orphanet,ORPHA:141288,Disorder,[Morphological anomaly],Midline cervical cleft,,"Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.",,,,,,,,, +GARD:19972,Active,Orphanet,ORPHA:155832,Group of disorders,[Category],Rare head and neck malformation,,,,,,,,,,, +GARD:19973,Active,Orphanet,ORPHA:155835,Group of disorders,[Category],Cysts and fistulae of the face and oral cavity,,,,,,,,,,, +GARD:19974,Active,Orphanet,ORPHA:155838,Disorder,[Morphological anomaly],Pinnae fistula or cyst,,"Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.",,,,,,,,, +GARD:19975,Active,Orphanet,ORPHA:155867,Group of disorders,[Clinical group],Paramedian facial cleft,[Tessier number 1-1 and 2-12 facial cleft],,,,,,,,,, +GARD:19976,Active,Orphanet,ORPHA:155878,Disorder,[Morphological anomaly],Submucosal cleft palate,,,,,,,,,,, +GARD:19977,Active,Orphanet,ORPHA:155884,Disorder,[Morphological anomaly],Coloboma of superior eyelid,[Superior palpebral coloboma],"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.",,,,,,,,, +GARD:19978,Active,Orphanet,ORPHA:155889,Disorder,[Morphological anomaly],Coloboma of inferior eyelid,[Inferior palpebral coloboma],"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.",,,,,,,,, +GARD:19979,Active,Orphanet,ORPHA:155896,Group of disorders,[Category],Otomandibular dysplasia,,,,,,,,,,, +GARD:1998,Active,Orphanet,ORPHA:1766,Disorder,[Disease],Dysequilibrium syndrome,"[CAMRQ syndrome, Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome, Non-progressive cerebellar ataxia-intellectual disability syndrome, UTS, Uner Tan syndrome]","Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.","[610185, 613227, 615268, 224050]",,,,,Dysequilibrium syndrome,TRUE,FALSE,Active +GARD:19980,Active,Orphanet,ORPHA:155899,Group of disorders,[Clinical group],Mandibulofacial dysostosis,[Bilateral and symmetric oto-mandibular dysplasia],,,,,,,,,, +GARD:19981,Active,Orphanet,ORPHA:156140,Group of disorders,[Clinical group],Predominantly large-vessel vasculitis,,,,,,,,,,, +GARD:19982,Active,Orphanet,ORPHA:156143,Group of disorders,[Clinical group],Predominantly medium-vessel vasculitis,,,,,,,,,,, +GARD:19983,Active,Orphanet,ORPHA:156146,Group of disorders,[Clinical group],Predominantly small-vessel vasculitis,,,,,,,,,,, +GARD:19984,Active,Orphanet,ORPHA:156149,Group of disorders,[Category],Immune complex mediated vasculitis,,,,,,,,,,, +GARD:19985,Active,Orphanet,ORPHA:156159,Group of disorders,[Category],Isolated dystonia,[Pure dystonia],,,,,,,,,, +GARD:19986,Active,Orphanet,ORPHA:156162,Group of disorders,[Category],Renal ciliopathy,,,,,,,,,,, +GARD:19987,Active,Orphanet,ORPHA:156165,Group of disorders,[Category],Retinal ciliopathy,,,,,,,,,,, +GARD:19988,Active,Orphanet,ORPHA:156168,Group of disorders,[Category],Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,[Retinal ciliopathy due to mutation in RP1 gene],,,,,,,,,, +GARD:19989,Active,Orphanet,ORPHA:156171,Group of disorders,[Category],Retinal ciliopathy due to mutation in the RPGR gene,,,,,,,,,,, +GARD:1999,Active,Orphanet,ORPHA:85,Group of disorders,[Clinical group],Congenital dyserythropoietic anemia,[CDA],"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).",,,,,,Congenital dyserythropoietic anemia,TRUE,FALSE,Active +GARD:19990,Active,Orphanet,ORPHA:156174,Group of disorders,[Category],Retinal ciliopathy due to mutation in the RPGRIP gene,,,,,,,,,,, +GARD:19991,Active,Orphanet,ORPHA:156177,Group of disorders,[Category],Retinal ciliopathy due to mutation in Usher gene,,,,,,,,,,, +GARD:19992,Active,Orphanet,ORPHA:156180,Group of disorders,[Category],Retinal ciliopathy due to mutation in nephronophthisis gene,,,,,,,,,,, +GARD:19993,Active,Orphanet,ORPHA:156183,Group of disorders,[Category],Retinal ciliopathy due to mutation in Bardet-Biedl gene,,,,,,,,,,, +GARD:19994,Active,Orphanet,ORPHA:156202,Group of disorders,[Category],Otomandibular dysplasia associated with monogenic syndromes,,,,,,,,,,, +GARD:19995,Active,Orphanet,ORPHA:156212,Group of disorders,[Category],Hypoglossia/aglossia,,,,,,,,,,, +GARD:19996,Active,Orphanet,ORPHA:156215,Group of disorders,[Category],Oromandibular-limb anomalies syndrome,,,,,,,,,,, +GARD:19997,Active,Orphanet,ORPHA:156224,Group of disorders,[Category],Paralytic facial malformation,,,,,,,,,,, +GARD:19998,Active,Orphanet,ORPHA:156237,Group of disorders,[Category],Syndrome or malformation associated with head and neck malformations,,,,,,,,,,, +GARD:19999,Active,Orphanet,ORPHA:156243,Group of disorders,[Category],Pinnae and external auditory canal anomaly,,,,,,,,,,, +GARD:20,Legacy,GARD,,,,,,,,,,,,Barrett esophagus,FALSE,FALSE,Active +GARD:200,Active,Orphanet,ORPHA:443079,Disorder,[Disease],Central serous chorioretinopathy,[CSCR],"A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached.",,,,,,Central serous chorioretinopathy,TRUE,FALSE,Active +GARD:2000,Active,Orphanet,ORPHA:98869,Disorder,[Disease],Congenital dyserythropoietic anemia type I,"[CDA I, CDA type 1, CDA type I, Congenital dyserythropoietic anemia type 1]",Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.,"[224120, 615631]",,,,,Congenital dyserythropoietic anemia type 1,TRUE,FALSE,Active +GARD:20000,Active,Orphanet,ORPHA:156246,Group of disorders,[Category],Nose and cavum anomaly,,,,,,,,,,, +GARD:20001,Active,Orphanet,ORPHA:156249,Group of disorders,[Category],Larynx anomaly,,,,,,,,,,, +GARD:20002,Active,Orphanet,ORPHA:156252,Group of disorders,[Category],Tracheal anomaly,,,,,,,,,,, +GARD:20003,Active,Orphanet,ORPHA:156532,Group of disorders,[Category],Rare syndrome with cardiac malformations,,,,,,,,,,, +GARD:20004,Active,Orphanet,ORPHA:156601,Group of disorders,[Category],Rare genetic hepatic disease,,,,,,,,,,, +GARD:20005,Active,Orphanet,ORPHA:156604,Group of disorders,[Category],Genetic parenchymatous liver disease,,,,,,,,,,, +GARD:20006,Active,Orphanet,ORPHA:156607,Group of disorders,[Category],Genetic biliary tract disease,,,,,,,,,,, +GARD:20007,Active,Orphanet,ORPHA:156610,Group of disorders,[Category],Rare genetic respiratory disease,,,,,,,,,,, +GARD:20008,Active,Orphanet,ORPHA:156619,Group of disorders,[Category],Rare genetic urogenital disease,,,,,,,,,,, +GARD:20009,Active,Orphanet,ORPHA:156622,Group of disorders,[Category],Genetic urogenital tract malformation,,,,,,,,,,, +GARD:2001,Active,Orphanet,ORPHA:98873,Disorder,[Disease],Congenital dyserythropoietic anemia type II,"[CDA II, CDA type 2, CDA type II, Congenital dyserythropoietic anemia type 2, Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas), SEC23B-CDG]","Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.",[224100],,,,,Congenital dyserythropoietic anemia type 2,TRUE,FALSE,Active +GARD:20010,Active,Orphanet,ORPHA:156629,Group of disorders,[Category],Rare genetic cause of hypertension,,,,,,,,,,, +GARD:20011,Active,Orphanet,ORPHA:156638,Group of disorders,[Category],Rare genetic endocrine disease,,,,,,,,,,, +GARD:20012,Active,Orphanet,ORPHA:156643,Group of disorders,[Category],Genetic endocrine growth disease,,,,,,,,,,, +GARD:20013,Active,Orphanet,ORPHA:157769,Disorder,[Morphological anomaly],Situs ambiguus,"[Incomplete situs inversus, Partial situs inversus, Situs ambiguous]","A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.",,,,,,,,, +GARD:20014,Active,Orphanet,ORPHA:157791,Disorder,[Disease],Epithelioid hemangioendothelioma,,"A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.",,,,,,,,, +GARD:20015,Active,Orphanet,ORPHA:157808,Disorder,[Morphological anomaly],Congenital pseudoarthrosis of the limbs,[Congenital pseudarthrosis of the limbs],"Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.",,,,,,,,, +GARD:20016,Active,Orphanet,ORPHA:157826,Disorder,[Disease],Congenital epulis,"[Congenital gingival cell tumor, Congenital granular cell tumor, Neumann tumor]","A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.",,,,,,,,, +GARD:20017,Active,Orphanet,ORPHA:157843,Group of disorders,[Clinical group],Trigeminal autonomic cephalalgia,,,,,,,,,,, +GARD:20018,Active,Orphanet,ORPHA:157991,Disorder,[Disease],Generalized eruptive histiocytosis,[Generalized eruptive histiocytoma],"A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.",,,,,,,,, +GARD:20019,Active,Orphanet,ORPHA:157997,Disorder,[Disease],Benign cephalic histiocytosis,,"A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.",,,,,,,,, +GARD:2002,Active,Orphanet,ORPHA:98870,Disorder,[Disease],Congenital dyserythropoietic anemia type III,"[CDA III, CDA type 3, CDA type III, Congenital dyserythropoietic anemia type 3]","Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.",[105600],,,,,Congenital dyserythropoietic anemia type 3,TRUE,FALSE,Active +GARD:20020,Active,Orphanet,ORPHA:158000,Disorder,[Disease],Juvenile xanthogranuloma,,"Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.",,,,,,,,, +GARD:20021,Active,Orphanet,ORPHA:158008,Disorder,[Disease],Papular xanthoma,,"Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.",,,,,,,,, +GARD:20022,Active,Orphanet,ORPHA:158019,Disorder,[Disease],Indeterminate cell histiocytosis,"[Indeterminate dendritic cell neoplasm, Indeterminate dendritic cell tumor]","A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).",,,,,,,,, +GARD:20023,Active,Orphanet,ORPHA:158022,Disorder,[Disease],Progressive nodular histiocytosis,,"Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.",,,,,,,,, +GARD:20024,Active,Orphanet,ORPHA:158032,Group of disorders,[Category],Hemophagocytic syndrome,"[HLH, Hemophagocytic lymphohistiocytosis]","Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).",,,,,,,,, +GARD:20025,Active,Orphanet,ORPHA:158038,Group of disorders,[Clinical group],Primary hemophagocytic lymphohistiocytosis,[Genetic hemophagocytic lymphohistiocytosis],,,,,,,,,, +GARD:20026,Active,Orphanet,ORPHA:158041,Group of disorders,[Category],Secondary hemophagocytic lymphohistiocytosis,"[Acquired hemophagocytic lymphohistiocytosis, Reactive hemophagocytic syndrome]",,,,,,,,,, +GARD:20027,Active,Orphanet,ORPHA:158057,Disorder,[Particular clinical situation in a disease or syndrome],Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,,"A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.",,,,,,,,, +GARD:20028,Active,Orphanet,ORPHA:158124,Group of disorders,[Category],Genetic dementia,,,,,,,,,,, +GARD:20029,Active,Orphanet,ORPHA:158266,Group of disorders,[Clinical group],Huntington disease-like syndrome,[Huntington disease phenocopy syndrome],,,,,,,,,, +GARD:2003,Active,Orphanet,ORPHA:207073,Group of disorders,[Category],Qualitative or quantitative defects of dysferlin,[Dysferlinopathy],,,,,,,Dysferlinopathy,TRUE,FALSE,Active +GARD:20030,Active,Orphanet,ORPHA:158300,Group of disorders,[Category],Rare genetic hematologic disease,,,,,,,,,,, +GARD:20031,Active,Orphanet,ORPHA:158673,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, acral form","[Localized DEB, acral form]","A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.",,,,,,,,, +GARD:20032,Active,Orphanet,ORPHA:158676,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, nails only","[Localized DEB, nails only]","A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.",,,,,,,,, +GARD:20033,Active,Orphanet,ORPHA:158766,Subtype of disorder,[Clinical subtype],Typical urticaria pigmentosa,,,,,,,,,,, +GARD:20034,Active,Orphanet,ORPHA:158769,Subtype of disorder,[Clinical subtype],Plaque-form urticaria pigmentosa,,,,,,,,,,, +GARD:20035,Active,Orphanet,ORPHA:158772,Subtype of disorder,[Clinical subtype],Nodular urticaria pigmentosa,,,,,,,,,,, +GARD:20036,Active,Orphanet,ORPHA:158775,Disorder,[Disease],Smoldering systemic mastocytosis,,"A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.",,,,,,,,, +GARD:20037,Active,Orphanet,ORPHA:158778,Disorder,[Disease],Isolated bone marrow mastocytosis,,"A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.",,,,,,,,, +GARD:20038,Active,Orphanet,ORPHA:160148,Disorder,[Disease],Cap polyposis,"[Cap inflammatory polyposis, Eroded polypoid hyperplasia, Inflammatory myoglandular polyps, Polypoid prolapsing folds]","A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.",,,,,,,,, +GARD:20039,Active,Orphanet,ORPHA:162516,Disorder,[Malformation syndrome],Isolated congenital nasal pyriform aperture stenosis,"[Isolated apertura pyriformis stenosis, Isolated nasal pyriform aperture hypoplasia]","A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.",,,,,,,,, +GARD:2004,Active,Orphanet,ORPHA:98881,Subtype of disorder,[Clinical subtype],Familial dysfibrinogenemia,,Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.,[616004],,,,,Dysfibrinogenemia,TRUE,FALSE,Active +GARD:20040,Active,Orphanet,ORPHA:162526,Disorder,[Morphological anomaly],Isolated congenital auditory ossicle malformation,[Congenital auditory ossicle malformation without external ear abnormality],"Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.",,,,,,,,, +GARD:20041,Active,Orphanet,ORPHA:163209,Group of disorders,[Category],Non-syndromic cerebral malformation due to abnormal neuronal migration,[Brain malformation due to abnormal neuronal migration],,,,,,,,,, +GARD:20042,Active,Orphanet,ORPHA:163525,Disorder,[Disease],Subacute cutaneous lupus erythematosus,,"A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.",,,,,,,,, +GARD:20043,Active,Orphanet,ORPHA:163531,Group of disorders,[Clinical group],Chronic cutaneous lupus erythematosus,,"A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.",,,,,,,,, +GARD:20044,Active,Orphanet,ORPHA:163582,Group of disorders,[Category],Rare bacterial infectious disease,,,,,,,,,,, +GARD:20045,Active,Orphanet,ORPHA:163585,Group of disorders,[Category],Rare viral disease,,,,,,,,,,, +GARD:20046,Active,Orphanet,ORPHA:163588,Group of disorders,[Category],Rare parasitic disease,,,,,,,,,,, +GARD:20047,Active,Orphanet,ORPHA:163591,Group of disorders,[Category],Rare mycosis,,,,,,,,,,, +GARD:20048,Active,Orphanet,ORPHA:163631,Group of disorders,[Category],Bile acid synthesis defect with cholestasis and malabsorption,,,,,,,,,,, +GARD:20049,Active,Orphanet,ORPHA:163637,Group of disorders,[Category],"Rare disorder related with pregnancy, childbirth and puerperium",,,,,,,,,,, +GARD:2005,Active,Orphanet,ORPHA:182127,Disorder,[Disease],Extragonadal germinoma,,"Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.",,,,,,Central nervous system germinoma,TRUE,FALSE,Active +GARD:20050,Active,Orphanet,ORPHA:163708,Disorder,[Disease],Cryptogenic late-onset epileptic spasms,[Late-onset infantile spasms],"Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.",,,,,,,,, +GARD:20051,Active,Orphanet,ORPHA:163921,Disorder,[Particular clinical situation in a disease or syndrome],Posttransplant acute limbic encephalitis,[PALE],"Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.",,,,,,,,, +GARD:20052,Active,Orphanet,ORPHA:163931,Disorder,[Disease],Acrodermatitis continua of Hallopeau,,"A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.",,,,,,,,, +GARD:20053,Active,Orphanet,ORPHA:163934,Disorder,[Disease],Atopic keratoconjunctivitis,,"A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.",,,,,,,,, +GARD:20054,Active,Orphanet,ORPHA:163971,Disorder,[Disease],"X-linked intellectual disability, Cilliers type",[X-linked intellectual disability-microcephaly-testicular failure syndrome],"X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).",,,,,,,,, +GARD:20055,Active,Orphanet,ORPHA:164001,Group of disorders,[Category],Rare odontal or periodontal disorder,,,,,,,,,,, +GARD:20056,Active,Orphanet,ORPHA:164004,Group of disorders,[Category],Middle ear anomaly,,,,,,,,,,, +GARD:20057,Active,Orphanet,ORPHA:164726,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to radiation,[AML and myelodysplastic syndromes related to radiation],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.",,,,,,,,, +GARD:20058,Active,Orphanet,ORPHA:164823,Group of disorders,[Category],Rare acquired aplastic anemia,,,,,,,,,,, +GARD:20059,Active,Orphanet,ORPHA:165652,Group of disorders,[Category],Rare genetic gastroenterological disease,,,,,,,,,,, +GARD:20060,Active,Orphanet,ORPHA:165655,Group of disorders,[Category],Genetic intestinal disease,,,,,,,,,,, +GARD:20061,Active,Orphanet,ORPHA:165658,Group of disorders,[Category],Genetic gastro-esophageal disease,,,,,,,,,,, +GARD:20062,Active,Orphanet,ORPHA:165661,Group of disorders,[Category],Genetic pancreatic disease,,,,,,,,,,, +GARD:20063,Active,Orphanet,ORPHA:165704,Group of disorders,[Category],Non-syndromic urogenital tract malformation,,,,,,,,,,, +GARD:20064,Active,Orphanet,ORPHA:165707,Group of disorders,[Category],Syndromic urogenital tract malformation,,,,,,,,,,, +GARD:20065,Active,Orphanet,ORPHA:165955,Disorder,[Disease],Wound myiasis,[Traumatic myiasis],"A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.",,,,,,,,, +GARD:20066,Active,Orphanet,ORPHA:165958,Disorder,[Disease],Cavitary myiasis,,"Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.",,,,,,,,, +GARD:20067,Active,Orphanet,ORPHA:165985,Group of disorders,[Clinical group],Diazoxide-sensitive diffuse hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form]",,,,,,,,,, +GARD:20068,Active,Orphanet,ORPHA:165988,Group of disorders,[Clinical group],Diazoxide-resistant diffuse hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form]","Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.",,,,,,,,, +GARD:20069,Active,Orphanet,ORPHA:166113,Disorder,[Disease],Bazex syndrome,"[Acrokeratosis of Bazex, Acrokeratosis paraneoplastica, Acrokeratosis paraneoplastica of Bazex]",Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.,,,,,,,,, +GARD:2007,Active,Orphanet+OMIM,OMIM:305000,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, x-linked",[Zinsser-cole-engman syndrome],"Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {32:Kirwan and Dokal, 2008}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {55:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[305000],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita X-linked,TRUE,FALSE,Active +GARD:20070,Active,Orphanet,ORPHA:166286,Disorder,[Disease],Porokeratotic eccrine ostial and dermal duct nevus,"[Comedo nevus of the palm, Porokeratotic eccrine nevus]",,,,,,,,,, +GARD:20071,Active,Orphanet,ORPHA:166295,Group of disorders,[Clinical group],Benign non-familial infantile seizures,,,,,,,,,,, +GARD:20072,Active,Orphanet,ORPHA:166299,Disorder,[Disease],Benign partial epilepsy of infancy with complex partial seizures,,"Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.",,,,,,,,, +GARD:20073,Active,Orphanet,ORPHA:166302,Disorder,[Disease],Benign partial epilepsy with secondarily generalized seizures in infancy,,"Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.",,,,,,,,, +GARD:20074,Active,Orphanet,ORPHA:166305,Disorder,[Disease],Benign infantile seizures associated with mild gastroenteritis,,"Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.",,,,,,,,, +GARD:20075,Active,Orphanet,ORPHA:166308,Disorder,[Disease],Benign infantile focal epilepsy with midline spikes and waves during sleep,[BIMSE],"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.",,,,,,,,, +GARD:20076,Active,Orphanet,ORPHA:166311,Group of disorders,[Clinical group],Benign partial infantile seizures,,,,,,,,,,, +GARD:20077,Active,Orphanet,ORPHA:166415,Disorder,[Disease],Audiogenic seizures,,"A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).",,,,,,,,, +GARD:20078,Active,Orphanet,ORPHA:166418,Disorder,[Disease],Eating reflex epilepsy,"[Eating epilepsy, Eating seizures]","A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.",,,,,,,,, +GARD:20079,Active,Orphanet,ORPHA:166421,Disorder,[Disease],Orgasm-induced seizures,,"Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.",,,,,,,,, +GARD:2008,Legacy,GARD,,,,,,,,,,,,Dysmorphism abnormal vocalization mental retardation,TRUE,FALSE,Retired +GARD:20080,Active,Orphanet,ORPHA:166424,Disorder,[Disease],Thinking seizures,,"Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.",,,,,,,,, +GARD:20081,Active,Orphanet,ORPHA:166427,Disorder,[Disease],Startle epilepsy,,"Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.",,,,,,,,, +GARD:20082,Active,Orphanet,ORPHA:166430,Disorder,[Disease],Micturation-induced seizures,,"Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.",,,,,,,,, +GARD:20083,Active,Orphanet,ORPHA:166463,Group of disorders,[Category],Epilepsy syndrome,,,,,,,,,,, +GARD:20084,Active,Orphanet,ORPHA:166466,Group of disorders,[Category],Neurocutaneous syndrome with epilepsy,,,,,,,,,,, +GARD:20085,Active,Orphanet,ORPHA:166469,Group of disorders,[Category],Chromosomal anomaly with epilepsy as a major feature,,,,,,,,,,, +GARD:20086,Active,Orphanet,ORPHA:166472,Group of disorders,[Category],Monogenic disease with epilepsy,,,,,,,,,,, +GARD:20087,Active,Orphanet,ORPHA:166475,Group of disorders,[Category],Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes,,,,,,,,,,, +GARD:20088,Active,Orphanet,ORPHA:166478,Group of disorders,[Category],Cerebral malformation with epilepsy,,,,,,,,,,, +GARD:20089,Active,Orphanet,ORPHA:166481,Group of disorders,[Category],Metabolic diseases with epilepsy,,,,,,,,,,, +GARD:2009,Active,Orphanet,ORPHA:1779,Disorder,[Malformation syndrome],Dysmorphism-cleft palate-loose skin syndrome,,"Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.",,,,,,Dysmorphism cleft palate loose skin,TRUE,FALSE,Active +GARD:20090,Active,Orphanet,ORPHA:166484,Group of disorders,[Category],Inflammatory and autoimmune disease with epilepsy,,,,,,,,,,, +GARD:20091,Active,Orphanet,ORPHA:166487,Group of disorders,[Category],Cerebral diseases of vascular origin with epilepsy,,,,,,,,,,, +GARD:20092,Active,Orphanet,ORPHA:166490,Group of disorders,[Category],Infectious disease with epilepsy,,,,,,,,,,, +GARD:20093,Active,Orphanet,ORPHA:166775,Group of disorders,[Category],Rare hemorrhagic disorder due to an acquired coagulation factor defect,"[Rare bleeding disorder due to an acquired coagulation factor defect, Rare coagulopathy due to an acquired coagulation factor defect]",,,,,,,,,, +GARD:20094,Active,Orphanet,ORPHA:167759,Group of disorders,[Category],Hereditary dentin defect,,"The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.",,,,,,,,, +GARD:20095,Active,Orphanet,ORPHA:167762,Group of disorders,[Category],Rare disease with dentinogenesis imperfecta,,,,,,,,,,, +GARD:20096,Active,Orphanet,ORPHA:167848,Group of disorders,[Category],Rare cardiomyopathy,,,,,,,,,,, +GARD:20097,Active,Orphanet,ORPHA:168194,Group of disorders,[Category],Rare cardiac tumor,,,,,,,,,,, +GARD:20098,Active,Orphanet,ORPHA:168621,Disorder,[Disease],"Dysplasia of head of femur, Meyer type","[Dysplasia epiphysealis capitis femoris, Meyer dysplasia]","Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.",,,,,,,,, +GARD:20099,Active,Orphanet,ORPHA:168778,Group of disorders,[Category],Rare pervasive developmental disorder,"[Rare ASD, Rare PDD, Rare autism spectrum disorder]",,,,,,,,,, +GARD:201,Active,Orphanet,ORPHA:1253,Disorder,[Malformation syndrome],Ascher syndrome,[Blepharochalasis-double lip syndrome],"A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.",[109900],,,,,Ascher Syndrome,TRUE,FALSE,Active +GARD:20100,Active,Orphanet,ORPHA:168803,Group of disorders,[Category],Primary peritoneal tumor,,,,,,,,,,, +GARD:20101,Active,Orphanet,ORPHA:168807,Group of disorders,[Category],Primary malignant peritoneal tumor,,,,,,,,,,, +GARD:20102,Active,Orphanet,ORPHA:168811,Disorder,[Disease],Malignant peritoneal mesothelioma,"[Diffuse malignant peritoneal mesothelioma, Primary malignant peritoneal mesothelioma]",Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.,,,,,,,,, +GARD:20103,Active,Orphanet,ORPHA:168829,Disorder,[Disease],Primary peritoneal carcinoma,"[EOPPC, Extra-ovarian primary peritoneal carcinoma, PPC, Primary peritoneal serous carcinoma, Serous surface papillary carcinoma]","Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).",,,,,,,,, +GARD:20104,Active,Orphanet,ORPHA:168940,Disorder,[Disease],Chronic eosinophilic leukemia,,"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.",,,,,,,,, +GARD:20105,Active,Orphanet,ORPHA:168943,Group of disorders,[Category],"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",,,,,,,,,,, +GARD:20106,Active,Orphanet,ORPHA:168947,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,,"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.",,,,,,,,, +GARD:20107,Active,Orphanet,ORPHA:168950,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,,"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.",,,,,,,,, +GARD:20108,Active,Orphanet,ORPHA:168960,Disorder,[Disease],Refractory anemia with excess blasts in transformation,[RAEB-t],"A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.",,,,,,,,, +GARD:20109,Active,Orphanet,ORPHA:168966,Disorder,[Disease],Composite lymphoma,[Composite Hodgkin and non-Hodgkin lymphoma],"A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentation and treatment are determined by the more aggressive component.",,,,,,,,, +GARD:20110,Active,Orphanet,ORPHA:168999,Disorder,[Disease],Malignant melanoma of the mucosa,,"A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.",,,,,,,,, +GARD:20111,Active,Orphanet,ORPHA:169110,Disorder,[Disease],Immunoglobulin heavy chain deficiency,,,,,,,,,,, +GARD:20112,Active,Orphanet,ORPHA:169139,Disorder,[Disease],Transient hypogammaglobulinemia of infancy,,"A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.",,,,,,,,, +GARD:20113,Active,Orphanet,ORPHA:169163,Group of disorders,[Category],Familial scaphocephaly syndrome,,,,,,,,,,, +GARD:20114,Active,Orphanet,ORPHA:169346,Group of disorders,[Category],DNA repair defect other than combined T-cell and B-cell immunodeficiencies,,,,,,,,,,, +GARD:20115,Active,Orphanet,ORPHA:169349,Group of disorders,[Clinical group],Immuno-osseous dysplasia,,,,,,,,,,, +GARD:20116,Active,Orphanet,ORPHA:169355,Group of disorders,[Category],Immunodeficiency syndrome with autoimmunity,,,,,,,,,,, +GARD:20117,Active,Orphanet,ORPHA:169361,Group of disorders,[Category],Immune dysregulation disease with immunodeficiency,,,,,,,,,,, +GARD:20118,Active,Orphanet,ORPHA:169443,Group of disorders,[Category],Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells,,,,,,,,,,, +GARD:20119,Active,Orphanet,ORPHA:169615,Subtype of disorder,[Etiological subtype],Idiopathic central precocious puberty,,,,,,,,,,, +GARD:2012,Active,Orphanet,ORPHA:1782,Disorder,[Malformation syndrome],Dysosteosclerosis,,A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.,[224300],,,,,Dysosteosclerosis,TRUE,FALSE,Active +GARD:20120,Active,Orphanet,ORPHA:169618,Subtype of disorder,[Etiological subtype],Secondary central precocious puberty,,,,,,,,,,, +GARD:20121,Active,Orphanet,ORPHA:169826,Group of disorders,[Category],Congenital vitamin K-dependent coagulation factors deficiency,,,,,,,,,,, +GARD:20122,Active,Orphanet,ORPHA:171220,Disorder,[Morphological anomaly],Rectal duplication,,"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.",,,,,,,,, +GARD:20123,Active,Orphanet,ORPHA:171673,Disorder,[Disease],Limbal stem cell deficiency,,"A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).",,,,,,,,, +GARD:20124,Active,Orphanet,ORPHA:171684,Disorder,[Disease],Idiopathic bilateral vestibulopathy,,"Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.",,,,,,,,, +GARD:20125,Active,Orphanet,ORPHA:171703,Disorder,[Malformation syndrome],Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,,"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.",,,,,,,,, +GARD:20126,Active,Orphanet,ORPHA:171829,Disorder,[Disease],6q16 microdeletion syndrome,"[Del(6)(q16), Monosomy 6q16, Prader-Willi-like syndrome due to microdeletion 6q16]","A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.",,,,,,,,, +GARD:20127,Active,Orphanet,ORPHA:171839,Disorder,[Malformation syndrome],Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,"[Berant syndrome, Capra-DeMarco syndrome, Familial scaphocephaly-radioulnar synostosis syndrome]","A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.",,,,,,,,, +GARD:20128,Active,Orphanet,ORPHA:171860,Disorder,[Disease],Intellectual disability-cataracts-kyphosis syndrome,,"This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.",,,,,,,,, +GARD:20129,Active,Orphanet,ORPHA:171889,Disorder,[Disease],Myopathy with hexagonally cross-linked tubular arrays,,"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.",,,,,,,,, +GARD:2013,Active,Orphanet+OMIM,OMIM:180700,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 1","[acral dysostosis with facial and genital abnormalities, fetal face syndrome, Robinow dwarfism]","Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by {21:Roifman et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310}).",[180700],[3107],[Autosomal dominant Robinow syndrome],[16620],,Dysostosis acral with facial and genital abnormalities,TRUE,FALSE,Retired +GARD:20130,Active,Orphanet,ORPHA:171895,Group of disorders,[Category],Myeloid hemopathy,,,,,,,,,,, +GARD:20131,Active,Orphanet,ORPHA:171898,Group of disorders,[Category],Lymphoid hemopathy,,,,,,,,,,, +GARD:20132,Active,Orphanet,ORPHA:171915,Group of disorders,[Category],B-cell non-Hodgkin lymphoma,[B-cell NHL],,,,,,,,,, +GARD:20133,Active,Orphanet,ORPHA:171918,Group of disorders,[Category],T-cell non-Hodgkin lymphoma,[T-cell NHL],,,,,,,,,, +GARD:20134,Active,Orphanet,ORPHA:172976,Group of disorders,[Clinical group],Congenital myopathy with cores,,,,,,,,,,, +GARD:20135,Active,Orphanet,ORPHA:174590,Group of disorders,[Category],Congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:20136,Active,Orphanet,ORPHA:177101,Group of disorders,[Category],Rare adult hypothyroidism,,,,,,,,,,, +GARD:20137,Active,Orphanet,ORPHA:177107,Group of disorders,[Category],Syndromic hypothyroidism,,,,,,,,,,, +GARD:20138,Active,Orphanet,ORPHA:177901,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,,,,,,,,,,, +GARD:20139,Active,Orphanet,ORPHA:177904,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,,,,,,,,,,, +GARD:20140,Active,Orphanet,ORPHA:178025,Group of disorders,[Category],Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations,,,,,,,,,,, +GARD:20141,Active,Orphanet,ORPHA:178040,Group of disorders,[Category],Rare peripheral precocious puberty,,,,,,,,,,, +GARD:20142,Active,Orphanet,ORPHA:178045,Group of disorders,[Clinical group],Transient congenital hypothyroidism,,,,,,,,,,, +GARD:20143,Active,Orphanet,ORPHA:178148,Subtype of disorder,[Clinical subtype],Antenatal multiminicore disease with arthrogryposis multiplex congenita,,,,,,,,,,, +GARD:20144,Active,Orphanet,ORPHA:178311,Disorder,[Disease],Isolated sternocostoclavicular hyperostosis,[Isolated SCCH],"Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.",,,,,,,,, +GARD:20145,Active,Orphanet,ORPHA:178315,Disorder,[Disease],Undifferentiated embryonal sarcoma of the liver,"[Embryonal sarcoma of the liver, UES, Undifferentiated sarcoma of the liver]","Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.",,,,,,,,, +GARD:20146,Active,Orphanet,ORPHA:178320,Disorder,[Particular clinical situation in a disease or syndrome],Acute lung injury,,,,,,,,,,, +GARD:20147,Active,Orphanet,ORPHA:178377,Disorder,[Malformation syndrome],Osteosclerosis-developmental delay-craniosynostosis syndrome,,"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).",,,,,,,,, +GARD:20148,Active,Orphanet,ORPHA:178396,Disorder,[Disease],Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,,"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.",,,,,,,,, +GARD:20149,Active,Orphanet,ORPHA:178475,Subtype of disorder,[Etiological subtype],Wound botulism,"[Cutaneous infectious botulism, Cutaneous toxin-mediated botulism, Inoculation botulism, Skin infectious botulism, Skin toxin-mediated botulism]","Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.",,,,,,,,, +GARD:2015,Active,Orphanet,ORPHA:1795,Disorder,[Malformation syndrome],Peripheral dysostosis,,"Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.",[170700],,,,,Dysostosis peripheral,TRUE,FALSE,Active +GARD:20150,Active,Orphanet,ORPHA:178478,Subtype of disorder,[Clinical subtype],Infant botulism,"[Infant intestinal botulism, Infant intestinal toxemia botulism, Infant intestinal toxin-mediated botulism, Infantile botulism]","A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.",,,,,,,,, +GARD:20151,Active,Orphanet,ORPHA:178481,Subtype of disorder,[Clinical subtype],Intestinal botulism,"[Intestinal colonization botulism, Intestinal toxemia botulism, Intestinal toxin-mediated botulism]","A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).",,,,,,,,, +GARD:20152,Active,Orphanet,ORPHA:178487,Subtype of disorder,[Clinical subtype],Adult intestinal botulism,"[Adult intestinal colonization botulism, Adult intestinal toxemia botulism, Adult intestinal toxin-mediated botulism, Infant-like botulism]","A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.",,,,,,,,, +GARD:20153,Active,Orphanet,ORPHA:178493,Disorder,[Disease],Myopic macular degeneration,[Myopic maculopathy],"A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss.",,,,,,,,, +GARD:20154,Active,Orphanet,ORPHA:178512,Disorder,[Disease],Folliculotropic mycosis fungoides,[Mycosis fungoides-associated follicular mucinosis],"A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.",,,,,,,,, +GARD:20155,Active,Orphanet,ORPHA:178517,Disorder,[Disease],Localized pagetoid reticulosis,"[Pagetoid reticulosis, Woringer-Kolopp type]","A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.",,,,,,,,, +GARD:20156,Active,Orphanet,ORPHA:178522,Disorder,[Disease],Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma,,"A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.",,,,,,,,, +GARD:20157,Active,Orphanet,ORPHA:178528,Disorder,[Disease],Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,"[Berti lymphoma, Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma]","Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.",,,,,,,,, +GARD:20158,Active,Orphanet,ORPHA:178533,Disorder,[Disease],Primary cutaneous gamma/delta-positive T-cell lymphoma,,"Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.",,,,,,,,, +GARD:20159,Active,Orphanet,ORPHA:178536,Disorder,[Disease],Primary cutaneous marginal zone B-cell lymphoma,[PCMZL],"A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.",,,,,,,,, +GARD:2016,Active,Orphanet,ORPHA:1798,Disorder,[Malformation syndrome],"Dysostosis, Stanescu type","[Autosomal dominant osteosclerosis, Stanescu type, Craniofacial dysostosis-diaphyseal hyperplasia syndrome, Stanescu osteosclerosis]",Stanescu type dysostosis is a rare form of osteosclerosis.,[122900],,,,,Craniofacial dysostosis with diaphyseal hyperplasia,TRUE,FALSE,Active +GARD:20160,Active,Orphanet,ORPHA:178544,Disorder,[Disease],"Primary cutaneous diffuse large B-cell lymphoma, leg type","[PCDLBCL,LT]","A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.",,,,,,,,, +GARD:20161,Active,Orphanet,ORPHA:178548,Group of disorders,[Clinical group],Indolent primary cutaneous T-cell lymphoma,,,,,,,,,,, +GARD:20162,Active,Orphanet,ORPHA:178551,Group of disorders,[Clinical group],Aggressive primary cutaneous T-cell lymphoma,,,,,,,,,,, +GARD:20163,Active,Orphanet,ORPHA:178554,Group of disorders,[Clinical group],Aggressive primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20164,Active,Orphanet,ORPHA:178557,Group of disorders,[Clinical group],Indolent primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20165,Active,Orphanet,ORPHA:178563,Group of disorders,[Category],Primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20166,Active,Orphanet,ORPHA:178566,Group of disorders,[Clinical group],Mycosis fungoides and variants,,"A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.",,,,,,,,, +GARD:20167,Active,Orphanet,ORPHA:178996,Group of disorders,[Category],Acquired neutropenia,[Immunologic neutropenia],,,,,,,,,, +GARD:20168,Active,Orphanet,ORPHA:179006,Group of disorders,[Category],Primary immunodeficiency due to a defect in adaptive immunity,,,,,,,,,,, +GARD:20169,Active,Orphanet,ORPHA:179490,Subtype of disorder,[Etiological subtype],Obesity due to congenital leptin resistance,,,,,,,,,,, +GARD:20170,Active,Orphanet,ORPHA:180062,Group of disorders,[Category],Uterovaginal malformation,,,,,,,,,,, +GARD:20171,Active,Orphanet,ORPHA:180065,Group of disorders,[Category],Non-syndromic uterovaginal malformation,,,,,,,,,,, +GARD:20172,Active,Orphanet,ORPHA:180068,Group of disorders,[Clinical group],Partial bilateral aplasia of the Müllerian ducts,[Incomplete bilateral aplasia of the Müllerian ducts],,,,,,,,,, +GARD:20173,Active,Orphanet,ORPHA:180071,Group of disorders,[Clinical group],Unilateral aplasia of the Müllerian ducts,[Unicornuate uterus],,,,,,,,,, +GARD:20174,Active,Orphanet,ORPHA:180074,Disorder,[Morphological anomaly],True unicornuate uterus,"[Complete unilateral Müllerian aplasia, Complete unilateral aplasia of the Müllerian ducts, Unicornuate uterus without rudimentary horn]","A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.",,,,,,,,, +GARD:20175,Active,Orphanet,ORPHA:180079,Disorder,[Morphological anomaly],Pseudounicornuate uterus,"[Incomplete unilateral Müllerian aplasia, Incomplete unilateral aplasia of the Müllerian ducts, Unicornuate uterus with rudimentary horn]","A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.",,,,,,,,, +GARD:20176,Active,Orphanet,ORPHA:180086,Disorder,[Morphological anomaly],Didelphys uterus,[Bicervical bicornuate uterus],"A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.",,,,,,,,, +GARD:20177,Active,Orphanet,ORPHA:180106,Subtype of disorder,[Clinical subtype],Bicervical bicornuate uterus and blind hemivagina,,,,,,,,,,, +GARD:20178,Active,Orphanet,ORPHA:180111,Subtype of disorder,[Clinical subtype],Bicervical bicornuate uterus with patent cervix and vagina,,,,,,,,,,, +GARD:20179,Active,Orphanet,ORPHA:180114,Disorder,[Morphological anomaly],Unicervical bicornuate uterus,,,,,,,,,,, +GARD:20180,Active,Orphanet,ORPHA:180122,Group of disorders,[Clinical group],Septate uterus,,,,,,,,,,, +GARD:20181,Active,Orphanet,ORPHA:180126,Disorder,[Morphological anomaly],Complete septate uterus,[Total septate uterus],"Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.",,,,,,,,, +GARD:20182,Active,Orphanet,ORPHA:180129,Disorder,[Morphological anomaly],Partial septate uterus,"[Subtotal septate uterus, Uterus subseptus]","Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.",,,,,,,,, +GARD:20183,Active,Orphanet,ORPHA:180134,Group of disorders,[Clinical group],Bicornuate uterus,,,,,,,,,,, +GARD:20184,Active,Orphanet,ORPHA:180139,Disorder,[Morphological anomaly],Uterine hypoplasia,,"A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.",,,,,,,,, +GARD:20185,Active,Orphanet,ORPHA:180142,Disorder,[Morphological anomaly],Absence of uterine body,,"A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.",,,,,,,,, +GARD:20186,Active,Orphanet,ORPHA:180145,Disorder,[Morphological anomaly],Uterine cervical aplasia and agenesis,,"A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.",,,,,,,,, +GARD:20187,Active,Orphanet,ORPHA:180148,Group of disorders,[Category],Syndromic uterovaginal malformation,,,,,,,,,,, +GARD:20188,Active,Orphanet,ORPHA:180151,Group of disorders,[Category],Rare vaginal malformation,,,,,,,,,,, +GARD:20189,Active,Orphanet,ORPHA:180154,Disorder,[Morphological anomaly],Septate vagina,,A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum.,,,,,,,,, +GARD:2019,Active,Orphanet,ORPHA:1822,Disorder,[Malformation syndrome],Dysplasia epiphysealis hemimelica,[Trevor disease],"A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.",[127800],,,,,Dysplasia epiphysealis hemimelica,TRUE,FALSE,Active +GARD:20190,Active,Orphanet,ORPHA:180157,Subtype of disorder,[Clinical subtype],Longitudinal vaginal septum,,"A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.",,,,,,,,, +GARD:20191,Active,Orphanet,ORPHA:180160,Subtype of disorder,[Clinical subtype],Transverse vaginal septum,,"A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.",,,,,,,,, +GARD:20192,Active,Orphanet,ORPHA:180163,Group of disorders,[Category],Rare breast malformation,,,,,,,,,,, +GARD:20193,Active,Orphanet,ORPHA:180170,Group of disorders,[Category],Excess breast volume or number,,,,,,,,,,, +GARD:20194,Active,Orphanet,ORPHA:180173,Group of disorders,[Category],Deficient breast volume or number,,,,,,,,,,, +GARD:20195,Active,Orphanet,ORPHA:180182,Disorder,[Morphological anomaly],Supernumerary breasts,"[Accessory breasts, Polymastia]","A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.",,,,,,,,, +GARD:20196,Active,Orphanet,ORPHA:180193,Group of disorders,[Category],Syndromic breast hypoplasia/aplasia,,,,,,,,,,, +GARD:20197,Active,Orphanet,ORPHA:180199,Group of disorders,[Category],Rare non-malformative gynecologic or obstetric disease,,,,,,,,,,, +GARD:20198,Active,Orphanet,ORPHA:180202,Group of disorders,[Category],Rare non-malformative breast disease,,,,,,,,,,, +GARD:20199,Active,Orphanet,ORPHA:180205,Group of disorders,[Category],Rare non-malformative uterovaginal or vulvovaginal disease,,,,,,,,,,, +GARD:202,Legacy,GARD,,,,,,,,,,,,Maxillary double lip,TRUE,FALSE,Retired +GARD:20200,Active,Orphanet,ORPHA:180208,Group of disorders,[Category],Anomaly of puberty or/and menstrual cycle,,,,,,,,,,, +GARD:20201,Active,Orphanet,ORPHA:180220,Group of disorders,[Category],Rare uterine adnexal tumor,,,,,,,,,,, +GARD:20202,Active,Orphanet,ORPHA:180234,Disorder,[Disease],Mixed germ cell tumor,,"A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage.",,,,,,,,, +GARD:20203,Active,Orphanet,ORPHA:180237,Disorder,[Disease],Benign tumor of fallopian tubes,,A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction.,,,,,,,,, +GARD:20204,Active,Orphanet,ORPHA:180242,Disorder,[Disease],Malignant tumor of fallopian tubes,"[Cancer of fallopian tubes, Malignant tubal tumor, Tubal cancer]",,,,,,,,,, +GARD:20205,Active,Orphanet,ORPHA:180250,Group of disorders,[Category],Rare breast tumor,,,,,,,,,,, +GARD:20206,Active,Orphanet,ORPHA:180267,Disorder,[Disease],Giant adenofibroma of the breast,,"Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.",,,,,,,,, +GARD:20207,Active,Orphanet,ORPHA:180303,Group of disorders,[Category],Rare non-malformative uterine adnexal disease,,,,,,,,,,, +GARD:20208,Active,Orphanet,ORPHA:180312,Group of disorders,[Category],Rare vulvovaginal tumor,,,,,,,,,,, +GARD:20209,Active,Orphanet,ORPHA:180766,Group of disorders,[Category],Malformative syndrome with dentinogenesis imperfecta,,,,,,,,,,, +GARD:20211,Active,Orphanet,ORPHA:180776,Group of disorders,[Category],Non-syndromic diaphragmatic or thoracic malformation,,,,,,,,,,, +GARD:20212,Active,Orphanet,ORPHA:180779,Group of disorders,[Category],Syndromic diaphragmatic or thoracic malformation,,,,,,,,,,, +GARD:20213,Active,Orphanet,ORPHA:180821,Group of disorders,[Category],Rare gastroesophageal tumor,,,,,,,,,,, +GARD:20214,Active,Orphanet,ORPHA:181368,Group of disorders,[Category],Rare insulin-resistance syndrome,,,,,,,,,,, +GARD:20215,Active,Orphanet,ORPHA:181371,Group of disorders,[Category],Rare diabetes mellitus type 1,[Rare insulin-dependent diabetes mellitus],,,,,,,,,, +GARD:20216,Active,Orphanet,ORPHA:181376,Group of disorders,[Category],Rare diabetes mellitus type 2,[Rare insulin-independent diabetes mellitus],,,,,,,,,, +GARD:20217,Active,Orphanet,ORPHA:181381,Group of disorders,[Category],Other rare diabetes mellitus,,,,,,,,,,, +GARD:20218,Active,Orphanet,ORPHA:181384,Group of disorders,[Category],Rare hypothalamic or pituitary disease,,,,,,,,,,, +GARD:20219,Active,Orphanet,ORPHA:181387,Group of disorders,[Category],Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:2022,Active,Orphanet,ORPHA:2204,Disorder,[Malformation syndrome],Dysplastic cortical hyperostosis,[Kozlowski-Tsuruta syndrome],"Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.",,,,,,Dysplastic cortical hyperostosis,TRUE,FALSE,Active +GARD:20220,Active,Orphanet,ORPHA:181390,Group of disorders,[Category],Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature,,,,,,,,,,, +GARD:20221,Active,Orphanet,ORPHA:181396,Group of disorders,[Category],Rare hypothyroidism,,,,,,,,,,, +GARD:20222,Active,Orphanet,ORPHA:181399,Group of disorders,[Category],Rare hyperthyroidism,,,,,,,,,,, +GARD:20223,Active,Orphanet,ORPHA:181402,Group of disorders,[Category],Syndrome with hypoparathyroidism,,,,,,,,,,, +GARD:20224,Active,Orphanet,ORPHA:181405,Group of disorders,[Category],Rare hypoparathyroidism,,,,,,,,,,, +GARD:20225,Active,Orphanet,ORPHA:181408,Group of disorders,[Category],Rare hyperparathyroidism,,,,,,,,,,, +GARD:20226,Active,Orphanet,ORPHA:181412,Group of disorders,[Category],Adrenogenital syndrome,,,,,,,,,,, +GARD:20227,Active,Orphanet,ORPHA:181415,Group of disorders,[Category],Rare primary hyperaldosteronism,[Rare primary aldosteronism],,,,,,,,,, +GARD:20228,Active,Orphanet,ORPHA:181419,Group of disorders,[Category],Rare hypoaldosteronism,,,,,,,,,,, +GARD:20229,Active,Orphanet,ORPHA:181422,Group of disorders,[Category],Rare hyperlipidemia,,,,,,,,,,, +GARD:20230,Active,Orphanet,ORPHA:181428,Group of disorders,[Clinical group],Hyperalphalipoproteinemia,,,,,,,,,,, +GARD:20231,Active,Orphanet,ORPHA:181431,Group of disorders,[Category],Rare hypolipidemia,,,,,,,,,,, +GARD:20232,Active,Orphanet,ORPHA:181437,Group of disorders,[Category],Rare syndromic dyslipidemia,,,,,,,,,,, +GARD:20233,Active,Orphanet,ORPHA:181441,Group of disorders,[Category],Rare disorder with hypergonadotropic hypogonadism,[Rare disorder with primary hypogonadism],,,,,,,,,, +GARD:20234,Active,Orphanet,ORPHA:182040,Group of disorders,[Category],Aplastic anemia,,,,,,,,,,, +GARD:20235,Active,Orphanet,ORPHA:182043,Group of disorders,[Category],Rare constitutional hemolytic anemia,,,,,,,,,,, +GARD:20236,Active,Orphanet,ORPHA:182047,Group of disorders,[Category],Rare acquired hemolytic anemia,,,,,,,,,,, +GARD:20237,Active,Orphanet,ORPHA:182054,Group of disorders,[Category],Rare thrombotic disease of hematologic origin,,,,,,,,,,, +GARD:20238,Active,Orphanet,ORPHA:182061,Group of disorders,[Category],Cerebellar malformation,,,,,,,,,,, +GARD:20239,Active,Orphanet,ORPHA:182064,Group of disorders,[Category],Rare neuroinflammatory or neuroimmunological disease,,,,,,,,,,, +GARD:20240,Active,Orphanet,ORPHA:182070,Group of disorders,[Category],Rare neurodegenerative disease,,,,,,,,,,, +GARD:20241,Active,Orphanet,ORPHA:182079,Group of disorders,[Clinical group],ARX-related epileptic encephalopathy,,,,,,,,,,, +GARD:20242,Active,Orphanet,ORPHA:182083,Group of disorders,[Category],Channelopathy with epilepsy,,,,,,,,,,, +GARD:20243,Active,Orphanet,ORPHA:182086,Group of disorders,[Category],Acquired peripheral neuropathy,,,,,,,,,,, +GARD:20244,Active,Orphanet,ORPHA:182095,Group of disorders,[Category],Interstitial lung disease,[ILD],,,,,,,,,, +GARD:20245,Active,Orphanet,ORPHA:182098,Group of disorders,[Clinical group],Pneumoconiosis,,,,,,,,,,, +GARD:20246,Active,Orphanet,ORPHA:182101,Group of disorders,[Clinical group],Idiopathic eosinophilic pneumonia,,,,,,,,,,, +GARD:20247,Active,Orphanet,ORPHA:182104,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,"[CTD-ILD, Secondary ILD in childhood and adulthood associated with a connective tissue disease]",,,,,,,,,, +GARD:20248,Active,Orphanet,ORPHA:182108,Group of disorders,[Category],Thoracic malformation,,,,,,,,,,, +GARD:20249,Active,Orphanet,ORPHA:182111,Group of disorders,[Category],Respiratory malformation,,,,,,,,,,, +GARD:2025,Legacy,GARD,,,,,,,,,,,,Dyssegmental dysplasia and glaucoma,TRUE,FALSE,Active +GARD:20250,Active,Orphanet,ORPHA:182114,Group of disorders,[Category],Rare urogenital tumor,,,,,,,,,,, +GARD:20251,Active,Orphanet,ORPHA:182117,Group of disorders,[Category],Non-syndromic urogenital tract malformation of female,,,,,,,,,,, +GARD:20252,Active,Orphanet,ORPHA:182121,Group of disorders,[Category],Non-syndromic urogenital tract malformation of male,,,,,,,,,,, +GARD:20253,Active,Orphanet,ORPHA:182124,Group of disorders,[Category],Non-syndromic urogenital tract malformation of male and female,,,,,,,,,,, +GARD:20254,Active,Orphanet,ORPHA:182130,Group of disorders,[Category],Tumor of endocrine glands,,,,,,,,,,, +GARD:20255,Active,Orphanet,ORPHA:182222,Group of disorders,[Category],Rare systemic disease,,,,,,,,,,, +GARD:20256,Active,Orphanet,ORPHA:182228,Group of disorders,[Category],Systemic autoimmune disease,,,,,,,,,,, +GARD:20257,Active,Orphanet,ORPHA:182231,Group of disorders,[Category],Rare rheumatologic disease,,,,,,,,,,, +GARD:20258,Active,Orphanet,ORPHA:182734,Group of disorders,[Clinical group],Genetic urticaria,,,,,,,,,,, +GARD:20259,Active,Orphanet,ORPHA:183422,Group of disorders,[Category],Polymalformative genetic syndrome with increased risk of developing cancer,,Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.,,,,,,,,, +GARD:2026,Active,Orphanet,ORPHA:1865,Disorder,[Disease],"Dyssegmental dysplasia, Silverman-Handmaker type",,"Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.",[224410],,,,,Dyssegmental dysplasia Silverman-Handmaker type,TRUE,FALSE,Active +GARD:20260,Active,Orphanet,ORPHA:183426,Group of disorders,[Category],Genetic epidermal disorder,,,,,,,,,,, +GARD:20261,Active,Orphanet,ORPHA:183435,Group of disorders,[Category],Inherited ichthyosis,[Genetic ichthyosis],,,,,,,,,, +GARD:20262,Active,Orphanet,ORPHA:183438,Group of disorders,[Category],Genetic erythrokeratoderma,,,,,,,,,,, +GARD:20263,Active,Orphanet,ORPHA:183441,Group of disorders,[Category],Genetic acrokeratoderma,,,,,,,,,,, +GARD:20264,Active,Orphanet,ORPHA:183444,Group of disorders,[Category],Genetic porokeratosis,,,,,,,,,,, +GARD:20265,Active,Orphanet,ORPHA:183447,Group of disorders,[Category],Genetic epidermal appendage anomaly,,,,,,,,,,, +GARD:20266,Active,Orphanet,ORPHA:183450,Group of disorders,[Category],Genetic hair anomaly,,,,,,,,,,, +GARD:20267,Active,Orphanet,ORPHA:183454,Group of disorders,[Category],Genetic nail anomaly,,,,,,,,,,, +GARD:20268,Active,Orphanet,ORPHA:183460,Group of disorders,[Category],Genetic sebaceous gland anomaly,,,,,,,,,,, +GARD:20269,Active,Orphanet,ORPHA:183463,Group of disorders,[Category],Genetic pigmentation anomaly of the skin,,,,,,,,,,, +GARD:2027,Active,Orphanet,ORPHA:256,Disorder,[Disease],Early-onset generalized limb-onset dystonia,"[Dystonia musculorum deformans, EOTD, Early-onset generalized torsion dystonia, Early-onset isolated dystonia, Early-onset primary dystonia, Early-onset torsion dystonia, Idiopathic torsion dystonia, Oppenheim dystonia]","A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.","[128100, 602554]",,,,,DYT-TOR1A,TRUE,FALSE,Active +GARD:20270,Active,Orphanet,ORPHA:183466,Group of disorders,[Category],Genetic hyperpigmentation of the skin,,,,,,,,,,, +GARD:20271,Active,Orphanet,ORPHA:183469,Group of disorders,[Category],Genetic hypopigmentation of the skin,,,,,,,,,,, +GARD:20272,Active,Orphanet,ORPHA:183472,Group of disorders,[Category],Genetic dermis disorder,,,,,,,,,,, +GARD:20273,Active,Orphanet,ORPHA:183478,Group of disorders,[Category],Genetic skin vascular disorder,,,,,,,,,,, +GARD:20274,Active,Orphanet,ORPHA:183481,Group of disorders,[Category],Genetic mixed dermis disorder,,,,,,,,,,, +GARD:20275,Active,Orphanet,ORPHA:183484,Group of disorders,[Category],Genetic subcutaneous tissue disorder,,,,,,,,,,, +GARD:20276,Active,Orphanet,ORPHA:183487,Group of disorders,[Category],Genetic skin tumor or hamartoma,,,,,,,,,,, +GARD:20277,Active,Orphanet,ORPHA:183490,Group of disorders,[Category],Genetic photodermatosis,"[Genetic skin photosensitivity, Photogenodermatosis, Photogénodermatose]",,,,,,,,,, +GARD:20278,Active,Orphanet,ORPHA:183494,Group of disorders,[Category],Genetic immune deficiency with skin involvement,,,,,,,,,,, +GARD:20279,Active,Orphanet,ORPHA:183497,Group of disorders,[Category],Genetic neuromuscular disease,,,,,,,,,,, +GARD:2028,Active,Orphanet,ORPHA:99657,Disorder,[Disease],"Primary dystonia, DYT2 type",[DYT2],Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.,[224500],,,,,"Dystonia 2, torsion, autosomal recessive",TRUE,FALSE,Active +GARD:20280,Active,Orphanet,ORPHA:183500,Group of disorders,[Category],Genetic neurodegenerative disease,,,,,,,,,,, +GARD:20281,Active,Orphanet,ORPHA:183503,Group of disorders,[Category],Genetic central nervous system and retinal vascular disease,,,,,,,,,,, +GARD:20282,Active,Orphanet,ORPHA:183506,Group of disorders,[Category],Genetic central nervous system malformation,,,,,,,,,,, +GARD:20283,Active,Orphanet,ORPHA:183509,Group of disorders,[Category],Rare genetic headache,,,,,,,,,,, +GARD:20284,Active,Orphanet,ORPHA:183512,Group of disorders,[Category],Rare genetic epilepsy,,,,,,,,,,, +GARD:20285,Active,Orphanet,ORPHA:183515,Group of disorders,[Category],Rare genetic medullar disease,,,,,,,,,,, +GARD:20286,Active,Orphanet,ORPHA:183518,Group of disorders,[Category],Rare hereditary ataxia,,,,,,,,,,, +GARD:20287,Active,Orphanet,ORPHA:183521,Group of disorders,[Category],Rare genetic movement disorder,,,,,,,,,,, +GARD:20288,Active,Orphanet,ORPHA:183524,Group of disorders,[Category],Rare genetic bone disease,,,,,,,,,,, +GARD:20289,Active,Orphanet,ORPHA:183527,Group of disorders,[Category],Genetic bone tumor,,,,,,,,,,, +GARD:20290,Active,Orphanet,ORPHA:183530,Group of disorders,[Category],Rare genetic developmental defect during embryogenesis,,,,,,,,,,, +GARD:20291,Active,Orphanet,ORPHA:183533,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:20292,Active,Orphanet,ORPHA:183536,Group of disorders,[Category],Genetic congenital limb malformation,,,,,,,,,,, +GARD:20293,Active,Orphanet,ORPHA:183539,Group of disorders,[Category],Genetic renal or urinary tract malformation,,,,,,,,,,, +GARD:20294,Active,Orphanet,ORPHA:183542,Group of disorders,[Category],Genetic cranial malformation,,,,,,,,,,, +GARD:20295,Active,Orphanet,ORPHA:183545,Group of disorders,[Category],Genetic digestive tract malformation,,,,,,,,,,, +GARD:20296,Active,Orphanet,ORPHA:183548,Group of disorders,[Category],"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen",,,,,,,,,,, +GARD:20297,Active,Orphanet,ORPHA:183554,Group of disorders,[Category],Genetic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:20298,Active,Orphanet,ORPHA:183557,Group of disorders,[Category],Genetic developmental defect of the eye,,,,,,,,,,, +GARD:20299,Active,Orphanet,ORPHA:183570,Group of disorders,[Category],Genetic malformation syndrome with short stature,,,,,,,,,,, +GARD:203,Legacy,GARD,,,,,,,,,,,,Crohn's disease of the esophagus,TRUE,FALSE,Active +GARD:20300,Active,Orphanet,ORPHA:183573,Group of disorders,[Category],Genetic overgrowth/obesity syndrome,,,,,,,,,,, +GARD:20301,Active,Orphanet,ORPHA:183576,Group of disorders,[Category],Genetic branchial arch or oral-acral syndrome,,,,,,,,,,, +GARD:20302,Active,Orphanet,ORPHA:183580,Group of disorders,[Category],Genetic malformation syndrome with odontal and/or periodontal component,,,,,,,,,,, +GARD:20303,Active,Orphanet,ORPHA:183583,Group of disorders,[Category],Genetic head and neck malformation,,,,,,,,,,, +GARD:20304,Active,Orphanet,ORPHA:183586,Group of disorders,[Category],Genetic glomerular disease,,,,,,,,,,, +GARD:20305,Active,Orphanet,ORPHA:183589,Group of disorders,[Category],Genetic thrombotic microangiopathy,,,,,,,,,,, +GARD:20306,Active,Orphanet,ORPHA:183592,Group of disorders,[Category],Genetic renal tubular disease,,,,,,,,,,, +GARD:20307,Active,Orphanet,ORPHA:183595,Group of disorders,[Category],Genetic renal tumor,,,,,,,,,,, +GARD:20308,Active,Orphanet,ORPHA:183607,Group of disorders,[Category],Genetic lens and zonula anomaly,,,,,,,,,,, +GARD:20309,Active,Orphanet,ORPHA:183616,Group of disorders,[Category],Genetic neuro-ophthalmological disease,,,,,,,,,,, +GARD:2031,Active,Orphanet,ORPHA:207085,Group of disorders,[Category],Qualitative or quantitative defects of dystrophin,[Dystrophinopathy],,,,,,,Dystrophinopathy,TRUE,FALSE,Active +GARD:20310,Active,Orphanet,ORPHA:183619,Group of disorders,[Category],Genetic eye tumor,,,,,,,,,,, +GARD:20311,Active,Orphanet,ORPHA:183622,Group of disorders,[Category],Genetic respiratory malformation,,,,,,,,,,, +GARD:20312,Active,Orphanet,ORPHA:183625,Group of disorders,[Category],Rare genetic diabetes mellitus,,,,,,,,,,, +GARD:20313,Active,Orphanet,ORPHA:183628,Group of disorders,[Category],Rare genetic hypothalamic or pituitary disease,,,,,,,,,,, +GARD:20314,Active,Orphanet,ORPHA:183631,Group of disorders,[Category],Rare genetic thyroid disease,,,,,,,,,,, +GARD:20315,Active,Orphanet,ORPHA:183634,Group of disorders,[Category],Rare genetic parathyroid disease and phosphocalcic metabolism disorder,,,,,,,,,,, +GARD:20316,Active,Orphanet,ORPHA:183637,Group of disorders,[Category],Rare genetic adrenal disease,,,,,,,,,,, +GARD:20317,Active,Orphanet,ORPHA:183643,Group of disorders,[Category],Genetic polyendocrinopathy,,,,,,,,,,, +GARD:20318,Active,Orphanet,ORPHA:183651,Group of disorders,[Category],Rare constitutional anemia,,,,,,,,,,, +GARD:20319,Active,Orphanet,ORPHA:183654,Group of disorders,[Category],Rare genetic coagulation disorder,,,,,,,,,,, +GARD:2032,Legacy,GARD,,,,,,,,,,,,EAF,TRUE,FALSE,Active +GARD:20320,Active,Orphanet,ORPHA:183669,Group of disorders,[Category],Agammaglobulinemia,,,,,,,,,,, +GARD:20321,Active,Orphanet,ORPHA:183681,Group of disorders,[Category],Functional neutrophil defect,,,,,,,,,,, +GARD:20322,Active,Orphanet,ORPHA:183710,Group of disorders,[Category],Genetic susceptibility to infections due to particular pathogens,,,,,,,,,,, +GARD:20323,Active,Orphanet,ORPHA:183731,Group of disorders,[Category],Rare genetic gynecological and obstetrical diseases,,,,,,,,,,, +GARD:20324,Active,Orphanet,ORPHA:183734,Group of disorders,[Category],Genetic gynecological tumor,,,,,,,,,,, +GARD:20325,Active,Orphanet,ORPHA:183757,Group of disorders,[Category],Rare genetic intellectual disability,,,,,,,,,,, +GARD:20326,Active,Orphanet,ORPHA:183763,Group of disorders,[Category],Rare genetic syndromic intellectual disability,,,,,,,,,,, +GARD:20327,Active,Orphanet,ORPHA:183770,Group of disorders,[Category],Rare genetic immune disease,,,,,,,,,,, +GARD:20328,Active,Orphanet,ORPHA:199257,Group of disorders,[Clinical group],Superficial fibromatosis,,,,,,,,,,, +GARD:20329,Active,Orphanet,ORPHA:199260,Disorder,[Disease],Calcifying aponeurotic fibroma,"[Juvenile aponeurotic fibromatosis, Keasby tumor]","A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.",,,,,,,,, +GARD:2033,Active,Orphanet,ORPHA:2554,Disorder,[Malformation syndrome],Ear-patella-short stature syndrome,[Meier-Gorlin syndrome],"A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).","[613803, 613800, 616835, 617063, 613804, 224690, 613805]",,,,,Meier-Gorlin syndrome,TRUE,FALSE,Active +GARD:20330,Active,Orphanet,ORPHA:199293,Disorder,[Morphological anomaly],Congenital microgastria,,"Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.",,,,,,,,, +GARD:20331,Active,Orphanet,ORPHA:199299,Disorder,[Disease],Late-onset isolated ACTH deficiency,,"Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.",,,,,,,,, +GARD:20332,Active,Orphanet,ORPHA:199310,Disorder,[Malformation syndrome],Tetragametic chimerism,"[46,XX/46,XY chimerism]","A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.",,,,,,,,, +GARD:20333,Active,Orphanet,ORPHA:199323,Disorder,[Disease],Endophthalmitis,,"A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.",,,,,,,,, +GARD:20334,Active,Orphanet,ORPHA:199326,Disorder,[Disease],"Isolated autosomal dominant hypomagnesemia, Glaudemans type",,"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.",,,,,,,,, +GARD:20335,Active,Orphanet,ORPHA:199329,Disorder,[Disease],"Congenital myopathy, Paradas type",,"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.",,,,,,,,, +GARD:20336,Active,Orphanet,ORPHA:199627,Disorder,[Disease],Atypical autism,,"A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.",,,,,,,,, +GARD:20337,Active,Orphanet,ORPHA:199630,Disorder,[Morphological anomaly],Isolated cerebellar vermis hypoplasia,,"Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.",,,,,,,,, +GARD:20338,Active,Orphanet,ORPHA:199633,Group of disorders,[Category],Non-syndromic cerebral malformation,[Non-syndromic brain malformation],,,,,,,,,, +GARD:20339,Active,Orphanet,ORPHA:199639,Group of disorders,[Category],Syndrome with corpus callosum agenesis/dysgenesis as a major feature,,,,,,,,,,, +GARD:2034,Legacy,GARD,,,,,,,,,,,,Thickened earlobes-conductive deafness syndrome,TRUE,FALSE,Active +GARD:20340,Active,Orphanet,ORPHA:200037,Group of disorders,[Clinical group],Paroxysmal dystonia,,,,,,,,,,, +GARD:20341,Active,Orphanet,ORPHA:202940,Group of disorders,[Category],Anomaly of puberty or/and menstrual cycle of genetic origin,,,,,,,,,,, +GARD:20342,Active,Orphanet,ORPHA:202948,Group of disorders,[Category],Syndromic microphthalmia-anophthalmia-coloboma,[Syndromic microphthalmia],,,,,,,,,, +GARD:20343,Active,Orphanet,ORPHA:206436,Subtype of disorder,[Clinical subtype],Infantile Krabbe disease,"[Krabbe disease, classic form, Krabbe disease, early-onset]",,,,,,,,,, +GARD:20344,Active,Orphanet,ORPHA:206443,Subtype of disorder,[Clinical subtype],Late-infantile/juvenile Krabbe disease,"[Krabbe disease, late-onset]",,,,,,,,,, +GARD:20345,Active,Orphanet,ORPHA:206448,Subtype of disorder,[Clinical subtype],Adult Krabbe disease,,,,,,,,,,, +GARD:20346,Active,Orphanet,ORPHA:206470,Disorder,[Disease],Cystadenoma of childhood,[Cystadenoma of ovary in childhood],"A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.",,,,,,,,, +GARD:20347,Active,Orphanet,ORPHA:206489,Disorder,[Disease],Malignant germ cell tumor of the vagina,"[Vaginal germ cell cancer, Vaginal germ cell malignant tumor]","Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.",,,,,,,,, +GARD:20348,Active,Orphanet,ORPHA:206492,Disorder,[Disease],Vulvovaginal rhabdomyosarcoma,,"Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.",,,,,,,,, +GARD:20349,Active,Orphanet,ORPHA:206538,Disorder,[Disease],Malignant non-dysgerminomatous germ cell tumor of ovary,[Non-dysgerminomatous germ cell cancer of ovary],"Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.",,,,,,,,, +GARD:2035,Active,Orphanet,ORPHA:319218,Disorder,[Disease],Ebola hemorrhagic fever,"[EHF, Ebola fever, Ebola virus disease]","Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.",,,,,,Ebola virus disease,TRUE,FALSE,Active +GARD:20350,Active,Orphanet,ORPHA:206546,Disorder,[Disease],Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,,"A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.",,,,,,,,, +GARD:20351,Active,Orphanet,ORPHA:206569,Disorder,[Disease],Immune-mediated necrotizing myopathy,"[Anti-HMG-CoA myopathy, Anti-SRP myopathy, Autoimmune necrotizing myositis, IMNM, Immune myopathy with myocyte necrosis, NAM]","A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers.",,,,,,,,, +GARD:20352,Active,Orphanet,ORPHA:206572,Disorder,[Disease],Overlap myositis,"[Adult-onset overlap myositis, Non-specific myositis]","A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).",,,,,,,,, +GARD:20353,Active,Orphanet,ORPHA:206575,Disorder,[Disease],Rippling muscle disease with myasthenia gravis,"[Acquired rippling muscle disease, Immune-mediated rippling muscle disease]","Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).",,,,,,,,, +GARD:20354,Active,Orphanet,ORPHA:206586,Disorder,[Disease],Neurolymphomatosis,,"Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.",,,,,,,,, +GARD:20355,Active,Orphanet,ORPHA:206594,Disorder,[Disease],Subacute inflammatory demyelinating polyneuropathy,[Subacute inflammatory demyelinating polyradiculoneuropathy],"Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).",,,,,,,,, +GARD:20356,Active,Orphanet,ORPHA:206599,Disorder,[Biological anomaly],Isolated asymptomatic elevation of creatine phosphokinase,"[Idiopathic asymptomatic hyperCKemia, Isolated asymptomatic hyperCKemia]","A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.",,,,,,,,, +GARD:20357,Active,Orphanet,ORPHA:206613,Group of disorders,[Category],Infectious disease with peripheral neuropathy,,,,,,,,,,, +GARD:20358,Active,Orphanet,ORPHA:206634,Group of disorders,[Category],Genetic skeletal muscle disease,,,,,,,,,,, +GARD:20359,Active,Orphanet,ORPHA:206638,Group of disorders,[Category],Acquired skeletal muscle disease,,,,,,,,,,, +GARD:20360,Active,Orphanet,ORPHA:206644,Group of disorders,[Category],Progressive muscular dystrophy,,,,,,,,,,, +GARD:20361,Active,Orphanet,ORPHA:206650,Group of disorders,[Category],Autosomal dominant distal myopathy,,,,,,,,,,, +GARD:20362,Active,Orphanet,ORPHA:206653,Group of disorders,[Category],Autosomal recessive distal myopathy,,,,,,,,,,, +GARD:20363,Active,Orphanet,ORPHA:206656,Group of disorders,[Category],Non-dystrophic myopathy,,,,,,,,,,, +GARD:20364,Active,Orphanet,ORPHA:206662,Group of disorders,[Category],Inclusion myopathy,,,,,,,,,,, +GARD:20365,Active,Orphanet,ORPHA:206701,Group of disorders,[Category],Bulbospinal muscular atrophy,,,,,,,,,,, +GARD:20366,Active,Orphanet,ORPHA:206704,Group of disorders,[Clinical group],Bulbospinal muscular atrophy of childhood,,,,,,,,,,, +GARD:20367,Active,Orphanet,ORPHA:206707,Group of disorders,[Clinical group],Bulbospinal muscular atrophy of adult,,,,,,,,,,, +GARD:20368,Active,Orphanet,ORPHA:206710,Group of disorders,[Clinical group],Generalized bulbospinal muscular atrophy,,,,,,,,,,, +GARD:20369,Active,Orphanet,ORPHA:206953,Group of disorders,[Category],Muscular lipidosis,[Lipid storage myopathy],,,,,,,,,, +GARD:20370,Active,Orphanet,ORPHA:206959,Group of disorders,[Clinical group],Muscular glycogenosis,[Glycogen storage myopathy],,,,,,,,,, +GARD:20371,Active,Orphanet,ORPHA:206966,Group of disorders,[Category],Mitochondrial myopathy,,,,,,,,,,, +GARD:20372,Active,Orphanet,ORPHA:206970,Group of disorders,[Category],Myotonic syndrome,,,,,,,,,,, +GARD:20373,Active,Orphanet,ORPHA:206973,Group of disorders,[Clinical group],Congenital myotonia,,,,,,,,,,, +GARD:20374,Active,Orphanet,ORPHA:206976,Group of disorders,[Clinical group],Periodic paralysis,,,,,,,,,,, +GARD:20375,Active,Orphanet,ORPHA:206982,Group of disorders,[Category],Muscular tumor,,,,,,,,,,, +GARD:20376,Active,Orphanet,ORPHA:206988,Group of disorders,[Category],"Infectious, fungal or parasitic myopathy",,,,,,,,,,, +GARD:20377,Active,Orphanet,ORPHA:206991,Disorder,[Disease],Viral myositis,,"A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.",,,,,,,,, +GARD:20378,Active,Orphanet,ORPHA:206994,Disorder,[Disease],Bacterial myositis,,"A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.",,,,,,,,, +GARD:20379,Active,Orphanet,ORPHA:206997,Group of disorders,[Category],Parasitic myositis,,,,,,,,,,, +GARD:2038,Legacy,GARD,,,,,,,,,,,,Basan syndrome,TRUE,FALSE,Retired +GARD:20380,Active,Orphanet,ORPHA:207000,Disorder,[Disease],Fungal myositis,,"A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are Candida species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides species, or Aspergillus species, among others.",,,,,,,,, +GARD:20381,Active,Orphanet,ORPHA:207012,Group of disorders,[Clinical group],Spinal muscular atrophy associated with central nervous system anomaly,,,,,,,,,,, +GARD:20382,Active,Orphanet,ORPHA:207018,Group of disorders,[Category],Rare hereditary metabolic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20383,Active,Orphanet,ORPHA:207021,Group of disorders,[Category],Rare hereditary systemic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20384,Active,Orphanet,ORPHA:207025,Group of disorders,[Category],Rare hereditary neurologic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20385,Active,Orphanet,ORPHA:207028,Group of disorders,[Category],Cerebellar ataxia with peripheral neuropathy,,,,,,,,,,, +GARD:20386,Active,Orphanet,ORPHA:207038,Group of disorders,[Category],Acute and subacute inflammatory demyelinating polyneuropathy,[Acute and subacute inflammatory demyelinating polyradiculoneuropathy],,,,,,,,,, +GARD:20387,Active,Orphanet,ORPHA:207046,Group of disorders,[Category],Malignant lymphoma with peripheral neuropathy,,,,,,,,,,, +GARD:20388,Active,Orphanet,ORPHA:207049,Group of disorders,[Category],Qualitative or quantitative protein defects in neuromuscular diseases,,,,,,,,,,, +GARD:20389,Active,Orphanet,ORPHA:207052,Group of disorders,[Category],Qualitative or quantitative defects of sarcoglycan,[Sarcoglycanopathy],,,,,,,,,, +GARD:2039,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia adrenal cyst,TRUE,FALSE,Retired +GARD:20390,Active,Orphanet,ORPHA:207060,Group of disorders,[Category],Qualitative or quantitative defects of alpha-sarcoglycan,,,,,,,,,,, +GARD:20391,Active,Orphanet,ORPHA:207063,Group of disorders,[Category],Qualitative or quantitative defects of beta-sarcoglycan,,,,,,,,,,, +GARD:20392,Active,Orphanet,ORPHA:207067,Group of disorders,[Category],Qualitative or quantitative defects of gamma-sarcoglycan,,,,,,,,,,, +GARD:20393,Active,Orphanet,ORPHA:207070,Group of disorders,[Category],Qualitative or quantitative defects of delta-sarcoglycan,,,,,,,,,,, +GARD:20394,Active,Orphanet,ORPHA:207078,Group of disorders,[Category],Qualitative or quantitative defects of caveolin-3,[Caveolinopathy],,,,,,,,,, +GARD:20395,Active,Orphanet,ORPHA:207090,Group of disorders,[Category],Qualitative or quantitative defects of collagen 6,,,,,,,,,,, +GARD:20396,Active,Orphanet,ORPHA:207094,Group of disorders,[Category],Laminin subunit alpha 2-related muscular dystrophy,"[LAMA2-related muscular dystrophy, Qualitative or quantitative defects of merosin]",,,,,,,,,, +GARD:20397,Active,Orphanet,ORPHA:207098,Group of disorders,[Category],Qualitative or quantitative defects of integrin alpha-7,[Integrinopathy],,,,,,,,,, +GARD:20398,Active,Orphanet,ORPHA:207101,Group of disorders,[Category],Qualitative or quantitative defects of perlecan,,,,,,,,,,, +GARD:20399,Active,Orphanet,ORPHA:207104,Group of disorders,[Category],Qualitative or quantitative defects of calpain,,,,,,,,,,, +GARD:204,Legacy,GARD,,,,,,,,,,,,Dieterich's disease,TRUE,FALSE,Active +GARD:2040,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia alopecia preaxial polydactyly,TRUE,FALSE,Active +GARD:20400,Active,Orphanet,ORPHA:207107,Group of disorders,[Category],Qualitative or quantitative defects of TRIM32,,,,,,,,,,, +GARD:20401,Active,Orphanet,ORPHA:207110,Group of disorders,[Category],Qualitative or quantitative defects of myotubularin,,,,,,,,,,, +GARD:20402,Active,Orphanet,ORPHA:207113,Group of disorders,[Category],Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan,"[Secondary alpha-dystroglycanopathy, Secondary dystroglycanopathy]",,,,,,,,,, +GARD:20403,Active,Orphanet,ORPHA:207119,Group of disorders,[Category],Qualitative or quantitative defects of FKRP,,,,,,,,,,, +GARD:20404,Active,Orphanet,ORPHA:207122,Group of disorders,[Category],Qualitative or quantitative defects of fukutin,,,,,,,,,,, +GARD:20405,Active,Orphanet,ORPHA:208508,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type II,"[ADCA2, ADCAII, Autosomal dominant cerebellar ataxia type 2]",,,,,,,,,, +GARD:20406,Active,Orphanet,ORPHA:208524,Disorder,[Disease],Herpetiform pemphigus,,"A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).",,,,,,,,, +GARD:20407,Active,Orphanet,ORPHA:208593,Group of disorders,[Category],Genetic hypoparathyroidism,,,,,,,,,,, +GARD:20408,Active,Orphanet,ORPHA:208596,Group of disorders,[Category],Genetic hyperparathyroidism,,,,,,,,,,, +GARD:20409,Active,Orphanet,ORPHA:208974,Group of disorders,[Clinical group],Chronic acquired demyelinating polyneuropathy,[CADP],,,,,,,,,, +GARD:20410,Active,Orphanet,ORPHA:208978,Group of disorders,[Clinical group],Chronic polyradiculoneuropathy,,,,,,,,,,, +GARD:20411,Active,Orphanet,ORPHA:208981,Disorder,[Disease],Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies,,,,,,,,,,, +GARD:20412,Active,Orphanet,ORPHA:208984,Group of disorders,[Category],Acquired sensory ganglionopathy,[Acquired sensory neuronopathy],,,,,,,,,, +GARD:20413,Active,Orphanet,ORPHA:208989,Disorder,[Disease],Non-paraneoplastic sensory ganglionopathy,[Non-paraneoplastic sensory neuronopathy],,,,,,,,,, +GARD:20414,Active,Orphanet,ORPHA:208999,Disorder,[Disease],Paraneoplastic sensory ganglionopathy,[Paraneoplastic sensory neuronopathy],,,,,,,,,, +GARD:20415,Active,Orphanet,ORPHA:209004,Disorder,[Disease],Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy,,,,,,,,,,, +GARD:20416,Active,Orphanet,ORPHA:209007,Group of disorders,[Category],Systemic inflammatory disease associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:20417,Active,Orphanet,ORPHA:209010,Group of disorders,[Category],Peripheral neuropathy associated with monoclonal gammopathy,,,,,,,,,,, +GARD:20418,Active,Orphanet,ORPHA:209013,Group of disorders,[Category],Acquired amyloid peripheral neuropathy,,,,,,,,,,, +GARD:20419,Active,Orphanet,ORPHA:209016,Group of disorders,[Category],Hematological disease associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:2042,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia arthrogryposis diabetes mellitus,TRUE,FALSE,Active +GARD:20420,Active,Orphanet,ORPHA:209019,Group of disorders,[Category],Solid tumor associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:20421,Active,Orphanet,ORPHA:209024,Group of disorders,[Category],"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",[Qualitative or quantitative defects of protein POMGNT1],,,,,,,,,, +GARD:20422,Active,Orphanet,ORPHA:209027,Group of disorders,[Category],Qualitative or quantitative defects of protein glycosyltransferase-like,,,,,,,,,,, +GARD:20423,Active,Orphanet,ORPHA:209030,Group of disorders,[Category],Qualitative or quantitative defects of protein O-mannosyltransferase 1,,,,,,,,,,, +GARD:20424,Active,Orphanet,ORPHA:209033,Group of disorders,[Category],Qualitative or quantitative defects of protein O-mannosyltransferase 2,,,,,,,,,,, +GARD:20425,Active,Orphanet,ORPHA:209038,Group of disorders,[Category],Qualitative or quantitative defects of myofibrillar proteins,,,,,,,,,,, +GARD:20426,Active,Orphanet,ORPHA:209041,Group of disorders,[Category],Qualitative or quantitative defects of desmin,,,,,,,,,,, +GARD:20427,Active,Orphanet,ORPHA:209044,Group of disorders,[Category],Qualitative or quantitative defects of alphaB-cristallin,,,,,,,,,,, +GARD:20428,Active,Orphanet,ORPHA:209047,Group of disorders,[Category],Qualitative or quantitative defects of filamin C,,,,,,,,,,, +GARD:20429,Active,Orphanet,ORPHA:209050,Group of disorders,[Category],Qualitative or quantitative defects of protein ZASP,,,,,,,,,,, +GARD:2043,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia Bartalos type,TRUE,FALSE,Active +GARD:20430,Active,Orphanet,ORPHA:209053,Group of disorders,[Category],Qualitative or quantitative defects of titin,,,,,,,,,,, +GARD:20431,Active,Orphanet,ORPHA:209056,Group of disorders,[Category],Qualitative or quantitative defects of telethonin,,,,,,,,,,, +GARD:20432,Active,Orphanet,ORPHA:209059,Group of disorders,[Category],Qualitative or quantitative defects of alpha-actin,,,,,,,,,,, +GARD:20433,Active,Orphanet,ORPHA:209182,Group of disorders,[Category],Qualitative or quantitative defects of nebulin,,,,,,,,,,, +GARD:20434,Active,Orphanet,ORPHA:209185,Group of disorders,[Category],Qualitative or quantitative defects of beta-myosin heavy chain (MYH7),,,,,,,,,,, +GARD:20435,Active,Orphanet,ORPHA:209188,Group of disorders,[Category],Qualitative or quantitative defects of emerin,,,,,,,,,,, +GARD:20436,Active,Orphanet,ORPHA:209193,Group of disorders,[Category],Qualitative or quantitative defects of selenoprotein N1,,,,,,,,,,, +GARD:20437,Active,Orphanet,ORPHA:209196,Group of disorders,[Category],Qualitative or quantitative defects of plectin,,,,,,,,,,, +GARD:20438,Active,Orphanet,ORPHA:209199,Group of disorders,[Category],Qualitative or quantitative defects of protein SERCA1,,,,,,,,,,, +GARD:20439,Active,Orphanet,ORPHA:209203,Group of disorders,[Category],Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -,,,,,,,,,,, +GARD:2044,Active,Orphanet,ORPHA:1816,Disorder,[Malformation syndrome],Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,"[Berlin syndrome, Ectodermal dysplasia, Berlin type]","Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.",[246500],,,,,Ectodermal dysplasia Berlin type,TRUE,FALSE,Active +GARD:20440,Active,Orphanet,ORPHA:209224,Group of disorders,[Category],Myotilinopathy,[Qualitative or quantitative defects of myotilin],,,,,,,,,, +GARD:20441,Active,Orphanet,ORPHA:209902,Disorder,[Disease],Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,,"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.",,,,,,,,, +GARD:20442,Active,Orphanet,ORPHA:209956,Disorder,[Disease],Idiopathic uveal effusion syndrome,,"Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.",,,,,,,,, +GARD:20443,Active,Orphanet,ORPHA:209959,Disorder,[Disease],Phacoanaphylactic uveitis,"[Endophthalmitis phacoanaphylactica, Lens-induced endophthalmitis, Lens-induced iridocyclitis, Lens-induced uveitis, Phacoallergic endophthalmitis, Phacoantigenic endophthalmitis, Phako-anaphylactic endophthalmitis]","A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material.",,,,,,,,, +GARD:20444,Active,Orphanet,ORPHA:209964,Disorder,[Disease],Solitary rectal ulcer syndrome,,"Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.",,,,,,,,, +GARD:20445,Active,Orphanet,ORPHA:209973,Disorder,[Disease],Benign nocturnal alternating hemiplegia of childhood,,Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.,,,,,,,,, +GARD:20446,Active,Orphanet,ORPHA:209978,Group of disorders,[Clinical group],Alternating hemiplegia,,,,,,,,,,, +GARD:20447,Active,Orphanet,ORPHA:209989,Disorder,[Disease],Non-papillary transitional cell carcinoma of the bladder,[Non-papillary urothelial carcinoma],,,,,,,,,, +GARD:20448,Active,Orphanet,ORPHA:210133,Disorder,[Disease],Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,,"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.",,,,,,,,, +GARD:20449,Active,Orphanet,ORPHA:210136,Disorder,[Disease],Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,,"Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.",,,,,,,,, +GARD:2045,Active,Orphanet,ORPHA:1806,Disorder,[Malformation syndrome],Ectodermal dysplasia-blindness syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.",[268320],,,,,Ectodermal dysplasia blindness,TRUE,FALSE,Active +GARD:20450,Active,Orphanet,ORPHA:210576,Disorder,[Disease],Congenital temporomandibular joint ankylosis,[Congenital trismus],"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.",,,,,,,,, +GARD:20451,Active,Orphanet,ORPHA:210581,Group of disorders,[Category],Temporomandibular joint anomaly,,,,,,,,,,, +GARD:20452,Active,Orphanet,ORPHA:210584,Disorder,[Disease],Spindle cell hemangioma,[Spindle cell hemangioendothelioma],"Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis.",,,,,,,,, +GARD:20453,Active,Orphanet,ORPHA:210589,Group of disorders,[Clinical group],Infantile hemangioma of rare localization,,,,,,,,,,, +GARD:20454,Active,Orphanet,ORPHA:211037,Group of disorders,[Clinical group],Autosomal dominant proximal spinal muscular atrophy,,"A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.",,,,,,,,, +GARD:20455,Active,Orphanet,ORPHA:211047,Group of disorders,[Clinical group],Specific learning disability,"[Specific learning difficulty, Specific learning disorder]",,,,,,,,,, +GARD:20456,Active,Orphanet,ORPHA:211053,Group of disorders,[Clinical group],Specific language disorder,[Dysphasia],,,,,,,,,, +GARD:20457,Active,Orphanet,ORPHA:211062,Group of disorders,[Category],Hereditary episodic ataxia,,"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.",,,,,,,,, +GARD:20458,Active,Orphanet,ORPHA:211237,Group of disorders,[Category],Rare vascular tumor,,,,,,,,,,, +GARD:20459,Active,Orphanet,ORPHA:211240,Group of disorders,[Category],Genetic vascular anomaly,,,,,,,,,,, +GARD:20460,Active,Orphanet,ORPHA:211243,Group of disorders,[Category],Simple vascular malformation,,,,,,,,,,, +GARD:20461,Active,Orphanet,ORPHA:211247,Group of disorders,[Category],Rare capillary malformation,,,,,,,,,,, +GARD:20462,Active,Orphanet,ORPHA:211252,Group of disorders,[Category],Rare venous malformation,,,,,,,,,,, +GARD:20463,Active,Orphanet,ORPHA:211255,Group of disorders,[Category],Rare lymphatic system anomaly,,,,,,,,,,, +GARD:20464,Active,Orphanet,ORPHA:211266,Group of disorders,[Category],Rare arteriovenous malformation,,,,,,,,,,, +GARD:20465,Active,Orphanet,ORPHA:211277,Group of disorders,[Category],Complex vascular malformation with associated anomalies,[Hemangiolymphangioma],,,,,,,,,, +GARD:20466,Active,Orphanet,ORPHA:213504,Disorder,[Disease],Adenocarcinoma of ovary,[Ovarian adenocarcinoma],,,,,,,,,, +GARD:20467,Active,Orphanet,ORPHA:213517,Group of disorders,[Clinical group],Familial ovarian cancer,[Familial ovarian malignant tumor],,,,,,,,,, +GARD:20468,Active,Orphanet,ORPHA:213524,Disorder,[Disease],Hereditary site-specific ovarian cancer syndrome,,"Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.",,,,,,,,, +GARD:20469,Active,Orphanet,ORPHA:213564,Group of disorders,[Category],Rare uterine cancer,"[Rare cancer of uterus, Rare malignant tumor of uterus, Rare uterine malignant tumor]",,,,,,,,,, +GARD:20470,Active,Orphanet,ORPHA:213569,Group of disorders,[Category],Rare cancer of corpus uteri,[Rare malignant tumor of corpus uteri],,,,,,,,,, +GARD:20471,Active,Orphanet,ORPHA:213574,Disorder,[Disease],Rare variants of adenocarcinoma of the corpus uteri,,,,,,,,,,, +GARD:20472,Active,Orphanet,ORPHA:213589,Group of disorders,[Clinical group],Malignant mixed epithelial and mesenchymal tumor of corpus uteri,[Mixed epithelial and mesenchymal cancer of corpus uteri],,,,,,,,,, +GARD:20473,Active,Orphanet,ORPHA:213600,Disorder,[Disease],Adenosarcoma of the corpus uteri,,"A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.",,,,,,,,, +GARD:20474,Active,Orphanet,ORPHA:213605,Disorder,[Disease],Carcinofibroma of the corpus uteri,,"Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.",,,,,,,,, +GARD:20475,Active,Orphanet,ORPHA:213615,Disorder,[Disease],Rhabdomyosarcoma of the corpus uteri,,"Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.",,,,,,,,, +GARD:20476,Active,Orphanet,ORPHA:213620,Group of disorders,[Clinical group],Sarcoma of the corpus uteri,,,,,,,,,,, +GARD:20477,Active,Orphanet,ORPHA:213625,Disorder,[Disease],Leiomyosarcoma of the corpus uteri,,"Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.",,,,,,,,, +GARD:20478,Active,Orphanet,ORPHA:213630,Disorder,[Disease],Primitive neuroectodermal tumor of the corpus uteri,"[Malignant peripheral neuroectodermal tumor of the corpus uteri, Peripheral neuroectodermal cancer of the corpus uteri]","Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.",,,,,,,,, +GARD:20479,Active,Orphanet,ORPHA:213716,Disorder,[Disease],Squamous cell carcinoma of the corpus uteri,[Endometrial squamous cell carcinoma],"Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.",,,,,,,,, +GARD:2048,Active,Orphanet,ORPHA:1810,Subtype of disorder,[Etiological subtype],Autosomal dominant hypohidrotic ectodermal dysplasia,"[AD-HED, Autosomal dominant anhidrotic ectodermal dysplasia]",,"[614940, 129490, 617337]",,,,,Hypohidrotic ectodermal dysplasia autosomal dominant,TRUE,FALSE,Active +GARD:20480,Active,Orphanet,ORPHA:213721,Disorder,[Disease],Undifferentiated carcinoma of the corpus uteri,[Endometrial undifferentiated carcinoma],"Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.",,,,,,,,, +GARD:20481,Active,Orphanet,ORPHA:213726,Disorder,[Disease],Serous carcinoma of the corpus uteri,[Endometrial serous carcinoma],"A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis.",,,,,,,,, +GARD:20482,Active,Orphanet,ORPHA:213731,Disorder,[Disease],High-grade neuroendocrine carcinoma of the corpus uteri,"[High-grade neuroendocrine carcinoma of the uterine corpus, Poorly differentiated neuroendocrine carcinoma of the corpus uteri, Poorly differentiated neuroendocrine carcinoma of the endometrium]","High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.",,,,,,,,, +GARD:20483,Active,Orphanet,ORPHA:213736,Disorder,[Disease],Low-grade neuroendocrine tumor of the corpus uteri,"[Low-grade neuroendocrine tumor of the uterine corpus, Well-differentiated neuroendocrine neoplasm of the endometrium, Well-differentiated neuroendocrine tumor of the corpus uteri, Well-differentiated neuroendocrine tumor of the endometrium]","Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.",,,,,,,,, +GARD:20484,Active,Orphanet,ORPHA:213746,Disorder,[Disease],Transitional cell carcinoma of the corpus uteri,[Endometrial transitional cell carcinoma],"A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.",,,,,,,,, +GARD:20485,Active,Orphanet,ORPHA:213751,Disorder,[Disease],Malignant germ cell tumor of the corpus uteri,[Germ cell cancer of the corpus uteri],"Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.",,,,,,,,, +GARD:20486,Active,Orphanet,ORPHA:213761,Group of disorders,[Category],Rare cancer of cervix uteri,"[Rare cervical cancer, Rare cervical malignant tumor, Rare malignant tumor of cervix uteri]",,,,,,,,,, +GARD:20487,Active,Orphanet,ORPHA:213767,Disorder,[Disease],Squamous cell carcinoma of the cervix uteri,[Cervical squamous cell carcinoma],,,,,,,,,, +GARD:20488,Active,Orphanet,ORPHA:213772,Disorder,[Disease],Adenocarcinoma of the cervix uteri,[Cervical adenocarcinoma],,,,,,,,,, +GARD:20489,Active,Orphanet,ORPHA:213777,Disorder,[Disease],High-grade neuroendocrine carcinoma of the cervix uteri,"[High-grade neuroendocrine carcinoma of the uterine cervix, Poorly differentiated neuroendocrine carcinoma of the cervix uteri, Poorly differentiated neuroendocrine cervical carcinoma]","High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.",,,,,,,,, +GARD:2049,Active,Orphanet,ORPHA:1882,Disorder,[Malformation syndrome],Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,"[ANOTHER syndrome, HEDH syndrome]","A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.",[225050],,,,,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia,TRUE,FALSE,Active +GARD:20490,Active,Orphanet,ORPHA:213782,Group of disorders,[Clinical group],Malignant mixed epithelial and mesenchymal tumor of cervix uteri,"[Cervical malignant mixed epithelial and mesenchymal tumor, Mixed epithelial and mesenchymal cancer of cervix uteri]",,,,,,,,,, +GARD:20491,Active,Orphanet,ORPHA:213787,Disorder,[Disease],Carcinosarcoma of the cervix uteri,"[Cervical carcinosarcoma, Cervical malignant Müllerian mixed tumor, Malignant Müllerian mixed tumor of the cervix uteri]","Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.",,,,,,,,, +GARD:20492,Active,Orphanet,ORPHA:213792,Disorder,[Disease],Adenosarcoma of the cervix uteri,[Cervical adenosarcoma],"A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.",,,,,,,,, +GARD:20493,Active,Orphanet,ORPHA:213797,Group of disorders,[Clinical group],Sarcoma of cervix uteri,"[Cervical malignant mesenchymal tumor, Cervical sarcoma, Malignant mesenchymal tumor of cervix uteri]",,,,,,,,,, +GARD:20494,Active,Orphanet,ORPHA:213802,Disorder,[Disease],Rhabdomyosarcoma of the cervix uteri,[Cervical rhabdomyosarcoma],"Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.",,,,,,,,, +GARD:20495,Active,Orphanet,ORPHA:213807,Disorder,[Disease],Leiomyosarcoma of the cervix uteri,[Cervical leiomyosarcoma],"Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.",,,,,,,,, +GARD:20496,Active,Orphanet,ORPHA:213812,Disorder,[Disease],Primitive neuroectodermal tumor of the cervix uteri,"[Cervical malignant peripheral neuroectodermal tumor, Cervical peripheral neuroectodermal cancer, Malignant peripheral neuroectodermal tumor of the cervix uteri, Peripheral neuroectodermal cancer of cervix uteri]","Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.",,,,,,,,, +GARD:20497,Active,Orphanet,ORPHA:213817,Disorder,[Disease],Papillary carcinoma of the cervix uteri,[Cervical papillary carcinoma],,,,,,,,,, +GARD:20498,Active,Orphanet,ORPHA:213823,Disorder,[Disease],Adenoid cystic carcinoma of the cervix uteri,[Cervical adenoid cystic carcinoma],"A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.",,,,,,,,, +GARD:20499,Active,Orphanet,ORPHA:213828,Disorder,[Disease],Adenoid basal carcinoma of the cervix uteri,[Cervical adenoid basal carcinoma],"A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.",,,,,,,,, +GARD:2050,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia Margarita type,TRUE,FALSE,Active +GARD:20500,Active,Orphanet,ORPHA:213833,Disorder,[Disease],Glassy cell carcinoma of the cervix uteri,,"Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).",,,,,,,,, +GARD:20501,Active,Orphanet,ORPHA:213837,Disorder,[Disease],Malignant germ cell tumor of the cervix uteri,"[Cervical germ cell cancer, Cervical malignant germ cell tumor, Germ cell cancer of the cervix uteri]","Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.",,,,,,,,, +GARD:20502,Active,Orphanet,ORPHA:216718,Subtype of disorder,[Clinical subtype],Isolated congenitally uncorrected transposition of the great arteries,[Isolated congenitally uncorrected transposition of the great vessels],,,,,,,,,, +GARD:20503,Active,Orphanet,ORPHA:216729,Subtype of disorder,[Clinical subtype],Congenitally uncorrected transposition of the great arteries with cardiac malformation,"[Congenitally uncorrected transposition of the great vessels with cardiac malformation, TGA with cardiac malformation]",,,,,,,,,, +GARD:20504,Active,Orphanet,ORPHA:216972,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, severe perinatal form",,,,,,,,,,, +GARD:20505,Active,Orphanet,ORPHA:216975,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, severe early infantile neurologic onset",,,,,,,,,,, +GARD:20506,Active,Orphanet,ORPHA:216978,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, late infantile neurologic onset",,,,,,,,,,, +GARD:20507,Active,Orphanet,ORPHA:216981,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, juvenile neurologic onset","[Niemann-Pick disease type C, classic form]",,,,,,,,,, +GARD:20508,Active,Orphanet,ORPHA:216986,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, adult neurologic onset",,,,,,,,,,, +GARD:20509,Active,Orphanet,ORPHA:217064,Disorder,[Particular clinical situation in a disease or syndrome],5-fluorouracil poisoning,[5-fluorouracil intoxication],"A rare intoxication caused by the prolonged, low-dose administration of 5-fluorouracil, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-fluorouracil poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-fluorouracil-related toxicity than men.",,,,,,,,, +GARD:2051,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia intellectual disability CNS malformation,TRUE,FALSE,Active +GARD:20510,Active,Orphanet,ORPHA:217067,Disorder,[Particular clinical situation in a disease or syndrome],Pouchitis,,,,,,,,,,, +GARD:20511,Active,Orphanet,ORPHA:217074,Group of disorders,[Category],Rare carcinoma of pancreas,[Rare pancreatic carcinoma],,,,,,,,,, +GARD:20512,Active,Orphanet,ORPHA:217080,Disorder,[Particular clinical situation in a disease or syndrome],Pulmonary fungal infections in patients deemed at risk,,,,,,,,,,, +GARD:20513,Active,Orphanet,ORPHA:217253,Disorder,[Disease],NMDA receptor encephalitis,"[Limbic encephalitis with N-methyl-D-aspartate receptor antibodies, Limbic encephalitis with NMDA receptor antibodies, N-methyl-D-aspartate receptor encephalitis, NMDARE, anti-NMDA receptor encephalitis]","A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.",,,,,,,,, +GARD:20514,Active,Orphanet,ORPHA:217399,Disorder,[Disease],Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation,"[Congenital absence of pain with hyperhidrosis, Congenital analgesia with hyperhidrosis, Congenital indifference to pain with hyperhidrosis, Congenital insensitivity to pain with hyperhidrosis]",,,,,,,,,, +GARD:20515,Active,Orphanet,ORPHA:217454,Group of disorders,[Clinical group],Rare hereditary thrombophilia,,,,,,,,,,, +GARD:20516,Active,Orphanet,ORPHA:217557,Disorder,[Disease],Pulmonary interstitial glycogenosis,"[Infantile cellular interstitial pneumonitis, PIG]","Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).",,,,,,,,, +GARD:20517,Active,Orphanet,ORPHA:217560,Disorder,[Disease],Neuroendocrine cell hyperplasia of infancy,"[NCHI, NEHI]","Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.",,,,,,,,, +GARD:20518,Active,Orphanet,ORPHA:217569,Group of disorders,[Category],Rare hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20519,Active,Orphanet,ORPHA:217572,Group of disorders,[Category],Glycogen storage disease with hypertrophic cardiomyopathy,"[GSD with hypertrophic cardiomyopathy, Glycogenosis with hypertrophic cardiomyopathy]",,,,,,,,,, +GARD:2052,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia mental retardation syndactyly,TRUE,FALSE,Retired +GARD:20520,Active,Orphanet,ORPHA:217581,Group of disorders,[Category],Lysosomal disease with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20521,Active,Orphanet,ORPHA:217587,Group of disorders,[Category],Mitochondrial disease with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20522,Active,Orphanet,ORPHA:217591,Group of disorders,[Category],Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20523,Active,Orphanet,ORPHA:217595,Group of disorders,[Category],Syndrome associated with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20524,Active,Orphanet,ORPHA:217598,Group of disorders,[Category],Non-familial hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20525,Active,Orphanet,ORPHA:217607,Group of disorders,[Category],Familial dilated cardiomyopathy,,,,,,,,,,, +GARD:20526,Active,Orphanet,ORPHA:217610,Group of disorders,[Category],Neuromuscular disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:20527,Active,Orphanet,ORPHA:217613,Group of disorders,[Category],Mitochondrial disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:20528,Active,Orphanet,ORPHA:217616,Group of disorders,[Category],Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy,,,,,,,,,,, +GARD:20529,Active,Orphanet,ORPHA:217619,Group of disorders,[Category],Syndrome associated with dilated cardiomyopathy,,,,,,,,,,, +GARD:2053,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia neurosensory deafness,TRUE,FALSE,Active +GARD:20530,Active,Orphanet,ORPHA:217629,Group of disorders,[Category],Non-familial dilated cardiomyopathy,,,,,,,,,,, +GARD:20531,Active,Orphanet,ORPHA:217632,Group of disorders,[Category],Restrictive cardiomyopathy,,,,,,,,,,, +GARD:20532,Active,Orphanet,ORPHA:217635,Group of disorders,[Category],Familial restrictive cardiomyopathy,,,,,,,,,,, +GARD:20533,Active,Orphanet,ORPHA:217638,Group of disorders,[Category],Lysosomal disease with restrictive cardiomyopathy,,,,,,,,,,, +GARD:20534,Active,Orphanet,ORPHA:217678,Group of disorders,[Category],Unclassified cardiomyopathy,,,,,,,,,,, +GARD:20535,Active,Orphanet,ORPHA:217720,Group of disorders,[Category],Non-familial restrictive cardiomyopathy,,,,,,,,,,, +GARD:20536,Active,Orphanet,ORPHA:218436,Group of disorders,[Category],Rare cardiac rhythm disease,,,,,,,,,,, +GARD:20537,Active,Orphanet,ORPHA:218439,Group of disorders,[Category],Non-genetic cardiac rhythm disease,,,,,,,,,,, +GARD:20538,Active,Orphanet,ORPHA:220448,Disorder,[Disease],Macrothrombocytopenia with mitral valve insufficiency,,"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.",,,,,,,,, +GARD:20539,Active,Orphanet,ORPHA:220452,Group of disorders,[Category],Isolated hereditary giant platelet disorder,"[Isolated hereditary macrothrombocytopenia, Isolated inherited giant platelet disorder, Isolated inherited macrothrombocytopenia]",,,,,,,,,, +GARD:20540,Active,Orphanet,ORPHA:220489,Group of disorders,[Category],Rare hereditary hemochromatosis,[Iron overload disease],"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.",,,,,,,,, +GARD:20541,Active,Orphanet,ORPHA:221078,Disorder,[Disease],Combined hyperactive dysfunction syndrome of the cranial nerves,,"Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.",,,,,,,,, +GARD:20542,Active,Orphanet,ORPHA:221109,Group of disorders,[Clinical group],Cranial neuralgia,[Facial neuralgia],,,,,,,,,, +GARD:20543,Active,Orphanet,ORPHA:221114,Group of disorders,[Category],Acquired peripheral movement disorder,,,,,,,,,,, +GARD:20544,Active,Orphanet,ORPHA:221142,Disorder,[Disease],Confetti-like macular atrophy,,"A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.",,,,,,,,, +GARD:20545,Active,Orphanet,ORPHA:222628,Group of disorders,[Category],Hereditary poikiloderma,,,,,,,,,,, +GARD:20546,Active,Orphanet,ORPHA:223713,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder,[OXPHOS disease],,,,,,,,,, +GARD:20547,Active,Orphanet,ORPHA:223727,Group of disorders,[Clinical group],Bone sarcoma,,,,,,,,,,, +GARD:20548,Active,Orphanet,ORPHA:223735,Group of disorders,[Category],Lymphoma,,,,,,,,,,, +GARD:20549,Active,Orphanet,ORPHA:225147,Disorder,[Disease],Sporadic infantile bilateral striatal necrosis,"[ABSN, Acute bilateral striatal necrosis, Sporadic IBSN, Sporadic infantile striatonigral degeneration, Sporadic infantile striatonigral necrosis]","Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.",,,,,,,,, +GARD:2055,Active,Orphanet,ORPHA:1818,Disorder,[Malformation syndrome],"Ectodermal dysplasia, trichoodontoonychial type",,"Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.",[129510],,,,,Ectodermal dysplasia trichoodontoonychial type,TRUE,FALSE,Active +GARD:20550,Active,Orphanet,ORPHA:225681,Group of disorders,[Category],Lysosomal disease with epilepsy,,,,,,,,,,, +GARD:20551,Active,Orphanet,ORPHA:225686,Group of disorders,[Category],Peroxisomal disease with epilepsy,,,,,,,,,,, +GARD:20552,Active,Orphanet,ORPHA:225689,Group of disorders,[Category],Amino acid or protein metabolism disease with epilepsy,,,,,,,,,,, +GARD:20553,Active,Orphanet,ORPHA:225692,Group of disorders,[Category],Metal transport or utilization disorder with epilepsy,,,,,,,,,,, +GARD:20554,Active,Orphanet,ORPHA:225696,Group of disorders,[Category],Energy metabolism disorder with epilepsy,,,,,,,,,,, +GARD:20555,Active,Orphanet,ORPHA:225700,Group of disorders,[Category],Mitochondrial disease with epilepsy,,,,,,,,,,, +GARD:20556,Active,Orphanet,ORPHA:225703,Group of disorders,[Category],Mitochondrial disease with peripheral neuropathy,,,,,,,,,,, +GARD:20557,Active,Orphanet,ORPHA:225707,Group of disorders,[Category],Metabolic neurotransmission anomaly with epilepsy,,,,,,,,,,, +GARD:20558,Active,Orphanet,ORPHA:225710,Group of disorders,[Category],Sterol metabolism disorder with epilepsy,,,,,,,,,,, +GARD:20559,Active,Orphanet,ORPHA:225713,Group of disorders,[Category],Other metabolic disease with epilepsy,,,,,,,,,,, +GARD:2056,Active,Orphanet,ORPHA:189,Disorder,[Disease],Hidrotic ectodermal dysplasia,[Clouston syndrome],"Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.",[129500],,,,,Clouston syndrome,TRUE,FALSE,Active +GARD:20560,Active,Orphanet,ORPHA:226292,Group of disorders,[Category],Permanent congenital hypothyroidism,,"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.",,,,,,,,, +GARD:20561,Active,Orphanet,ORPHA:226295,Group of disorders,[Clinical group],Primary congenital hypothyroidism,,"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.",,,,,,,,, +GARD:20562,Active,Orphanet,ORPHA:226307,Disorder,[Disease],Hypothyroidism due to deficient transcription factors involved in pituitary development or function,,"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.",,,,,,,,, +GARD:20563,Active,Orphanet,ORPHA:226313,Disorder,[Disease],Congenital hypothyroidism due to maternal intake of antithyroid drugs,,"Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.",,,,,,,,, +GARD:20564,Active,Orphanet,ORPHA:226316,Disorder,[Disease],Genetic transient congenital hypothyroidism,,"Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.",,,,,,,,, +GARD:20565,Active,Orphanet,ORPHA:227510,Subtype of disorder,[Clinical subtype],"Multiple system atrophy, cerebellar type","[MSA, cerebellar type, MSA-c, Sporadic OPCA type 1, Sporadic olivopontocerebellar atrophy type 1]","Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).",,,,,,,,, +GARD:20566,Active,Orphanet,ORPHA:227972,Disorder,[Disease],Toxic oil syndrome,,"Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.",,,,,,,,, +GARD:20567,Active,Orphanet,ORPHA:227990,Disorder,[Disease],Autoimmune polyendocrinopathy type 4,"[APS type 4, APS4, Autoimmune polyendocrine syndrome type 4, Autoimmune polyglandular syndrome type 4]","A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.",,,,,,,,, +GARD:20568,Active,Orphanet,ORPHA:228113,Disorder,[Particular clinical situation in a disease or syndrome],Anal fistula,,"A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females.",,,,,,,,, +GARD:20569,Active,Orphanet,ORPHA:228116,Disorder,[Disease],Hughes-Stovin syndrome,,"Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.",,,,,,,,, +GARD:2057,Active,Orphanet,ORPHA:248,Subtype of disorder,[Etiological subtype],Autosomal recessive hypohidrotic ectodermal dysplasia,"[AR-HED, Autosomal recessive anhidrotic ectodermal dysplasia]",,"[224900, 614941, 618535]",,,,,Hypohidrotic ectodermal dysplasia autosomal recessive,TRUE,FALSE,Active +GARD:20570,Active,Orphanet,ORPHA:228119,Disorder,[Disease],Fusariosis,[Fusarium infection],"Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.",,,,,,,,, +GARD:20571,Active,Orphanet,ORPHA:228145,Group of disorders,[Category],Multiple sclerosis variant,,,,,,,,,,, +GARD:20572,Active,Orphanet,ORPHA:228157,Disorder,[Disease],Marburg acute multiple sclerosis,"[Acute multiple sclerosis, Marburg type, Acute multiple sclerosis, Marburg variant]","Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.",,,,,,,,, +GARD:20573,Active,Orphanet,ORPHA:228184,Group of disorders,[Category],Heart-hand syndrome,[Atriodigital dysplasia],"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).",,,,,,,,, +GARD:20574,Active,Orphanet,ORPHA:228215,Group of disorders,[Category],Genetic dermis elastic tissue disorder,,,,,,,,,,, +GARD:20575,Active,Orphanet,ORPHA:228218,Group of disorders,[Category],Acquired dermis elastic tissue disorder,,,,,,,,,,, +GARD:20576,Active,Orphanet,ORPHA:228221,Group of disorders,[Category],Acquired dermis elastic tissue disorder with decreased elastic tissue,,,,,,,,,,, +GARD:20577,Active,Orphanet,ORPHA:228224,Group of disorders,[Category],Acquired dermis elastic tissue disorder with increased elastic tissue,,,,,,,,,,, +GARD:20578,Active,Orphanet,ORPHA:228227,Disorder,[Disease],Late-onset focal dermal elastosis,"[PXE-like late-onset focal dermal elastosis, Pseudoxanthoma-like late-onset focal dermal elastosis]","Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.",,,,,,,,, +GARD:20579,Active,Orphanet,ORPHA:228236,Disorder,[Disease],Linear focal elastosis,"[Elastotic striae, Linear focal dermal elastosis]","Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.",,,,,,,,, +GARD:20580,Active,Orphanet,ORPHA:228243,Disorder,[Disease],Elastofibroma dorsi,,"Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.",,,,,,,,, +GARD:20581,Active,Orphanet,ORPHA:228247,Disorder,[Disease],Acquired pseudoxanthoma elasticum,"[Acquired Gronblad-Strandberg-Touraine syndrome, Acquired PXE]","A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.",,,,,,,,, +GARD:20582,Active,Orphanet,ORPHA:228254,Disorder,[Disease],Elastoma,"[Juvenile elastoma without osteopoikilosis, Nevus elasticus, Weidman juvenile elastoma]","A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.",,,,,,,,, +GARD:20583,Active,Orphanet,ORPHA:228264,Disorder,[Disease],Papular elastorrhexis,,"A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.",,,,,,,,, +GARD:20584,Active,Orphanet,ORPHA:228272,Disorder,[Disease],Primary anetoderma,[Primary macular atrophy],Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.,,,,,,,,, +GARD:20585,Active,Orphanet,ORPHA:228277,Disorder,[Disease],Familial anetoderma,"[Hereditary anetoderma, Hereditary macular atrophy]",Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.,,,,,,,,, +GARD:20586,Active,Orphanet,ORPHA:228285,Disorder,[Disease],Acquired cutis laxa,[Cutis laxa acquisita],,,,,,,,,, +GARD:20587,Active,Orphanet,ORPHA:228290,Disorder,[Disease],White fibrous papulosis of the neck,,"White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.",,,,,,,,, +GARD:20588,Active,Orphanet,ORPHA:228293,Disorder,[Disease],Pseudoxanthoma elasticum-like papillary dermal elastolysis,[PXE-like papillary dermal elastolysis],"Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.",,,,,,,,, +GARD:20589,Active,Orphanet,ORPHA:228299,Disorder,[Disease],Mid-dermal elastolysis,,"A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.",,,,,,,,, +GARD:20590,Active,Orphanet,ORPHA:228312,Group of disorders,[Clinical group],"Autoimmune hemolytic anemia, cold type","[Cold AIHA, cAHA, cAIHA]","Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).",,,,,,,,, +GARD:20591,Active,Orphanet,ORPHA:228371,Subtype of disorder,[Clinical subtype],Foodborne botulism,[Intoxication botulism],"Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.",,,,,,,,, +GARD:20592,Active,Orphanet,ORPHA:228379,Disorder,[Disease],Virus-associated trichodysplasia spinulosa,"[Cyclosporine-induced folliculodystrophy, Pilomatrix dysplasia, TS, Trichodysplasia spinulosa, VATS]","Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.",,,,,,,,, +GARD:20593,Active,Orphanet,ORPHA:228396,Disorder,[Malformation syndrome],Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,,"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.",,,,,,,,, +GARD:20594,Active,Orphanet,ORPHA:228410,Disorder,[Malformation syndrome],Polyvalvular heart disease syndrome,[PHD syndrome],"A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.",,,,,,,,, +GARD:20595,Active,Orphanet,ORPHA:228415,Disorder,[Malformation syndrome],5q35 microduplication syndrome,"[Dup(5)(q35), Trisomy 5q35]","The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.",,,,,,,,, +GARD:20596,Active,Orphanet,ORPHA:229720,Group of disorders,[Category],Syndromic agammaglobulinemia,,,,,,,,,,, +GARD:20597,Active,Orphanet,ORPHA:230800,Subtype of disorder,[Clinical subtype],Toxin-mediated infectious botulism,[Toxin-mediated infective botulism],"Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).",,,,,,,,, +GARD:20598,Active,Orphanet,ORPHA:231080,Disorder,[Particular clinical situation in a disease or syndrome],High-grade dysplasia in patients with Barrett esophagus,,,,,,,,,,, +GARD:20599,Active,Orphanet,ORPHA:231111,Disorder,[Disease],Drug-induced lupus erythematosus,[DILE],"A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydralazine are the drugs most frequently implicated.",,,,,,,,, +GARD:206,Active,Orphanet,ORPHA:655,Disorder,[Disease],Nephronophthisis,,"A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.","[606966, 614377, 615382, 615862, 617271, 602088, 613159, 613820, 613824, 611498, 256100, 604387]",,,,,Nephronophthisis,TRUE,FALSE,Active +GARD:2060,Active,Orphanet+OMIM,OMIM:225100,Subtype of disorder,[Malformation syndrome subtype],"Ectopia lentis 2, isolated, autosomal recessive",,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({6:Greene et al., 2010}).\n\nAn autosomal dominant form of isolated ectopia lentis (ECTOL1; {129600}) is caused by mutation in the FBN1 gene ({134797}).\n\nEctopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome ({154700}), Weill-Marchesani syndrome (see {277600}), and homocystinuria ({236200}).",[225100],[1885],[Isolated ectopia lentis],[12251],,"Ectopia lentis, isolated autosomal recessive",TRUE,FALSE,Active +GARD:20600,Active,Orphanet,ORPHA:231117,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,,,,,,,,,,, +GARD:20601,Active,Orphanet,ORPHA:231127,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 microdeletion,,,,,,,,,,, +GARD:20602,Active,Orphanet,ORPHA:231130,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,,,,,,,,,,, +GARD:20603,Active,Orphanet,ORPHA:231137,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to 7p11.2p13 microduplication,"[Silver-Russell syndrome due to 7p11.2-p13 microduplication, Silver-Russell syndrome due to dup(7)(p11.2p13), Silver-Russell syndrome due to trisomy 7p11.2-p13, Silver-Russell syndrome due to trisomy 7p11.2p13]",,,,,,,,,, +GARD:20604,Active,Orphanet,ORPHA:231140,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to an imprinting defect of 11p15,,,,,,,,,,, +GARD:20605,Active,Orphanet,ORPHA:231144,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to 11p15 microduplication,,,,,,,,,,, +GARD:20606,Active,Orphanet,ORPHA:231147,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,[UPD(11)mat],,,,,,,,,, +GARD:20607,Active,Orphanet,ORPHA:231230,Group of disorders,[Category],Beta-thalassemia associated with another hemoglobin anomaly,[Beta-thalassemia associated with another Hb anomaly],"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].",,,,,,,,, +GARD:20608,Active,Orphanet,ORPHA:231242,Disorder,[Disease],Hemoglobin C-beta-thalassemia syndrome,"[C-beta-thalassemia, HbC-beta-thalassemia syndrome]",Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.,,,,,,,,, +GARD:20609,Active,Orphanet,ORPHA:231249,Disorder,[Disease],Hemoglobin E-beta-thalassemia syndrome,"[E-beta-thalassemia, HbE-beta-thalassemia syndrome]",Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).,,,,,,,,, +GARD:20610,Active,Orphanet,ORPHA:231386,Group of disorders,[Category],Beta-thalassemia with other manifestations,,Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.,,,,,,,,, +GARD:20611,Active,Orphanet,ORPHA:231413,Group of disorders,[Category],Variant of Guillain-Barré syndrome,[Variant of GBS],,,,,,,,,, +GARD:20612,Active,Orphanet,ORPHA:231416,Group of disorders,[Clinical group],Regional variant of Guillain-Barré syndrome,[Regional variant of GBS],,,,,,,,,, +GARD:20613,Active,Orphanet,ORPHA:231419,Group of disorders,[Clinical group],Functional variant of Guillain-Barré syndrome,[Functional variant of GBS],,,,,,,,,, +GARD:20614,Active,Orphanet,ORPHA:231426,Disorder,[Disease],Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,"[PCB variant of GBS, PCB variant of Guillain-Barré syndrome, Pharyngeal-cervical-brachial weakness, Pharyngo-cervico-brachial variant of GBS, Pharyngo-cervico-brachial variant of Guillain-Barré syndrome]","Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.",,,,,,,,, +GARD:20615,Active,Orphanet,ORPHA:231445,Disorder,[Disease],Paraparetic variant of Guillain-Barré syndrome,[Paraparetic variant of GBS],"Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.",,,,,,,,, +GARD:20616,Active,Orphanet,ORPHA:231450,Disorder,[Disease],Acute pure sensory neuropathy,"[Acute pure sensory GBS, Acute pure sensory Guillain-Barré syndrome]","A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.",,,,,,,,, +GARD:20617,Active,Orphanet,ORPHA:231457,Disorder,[Disease],Acute pandysautonomia,"[Acute panautonomic GBS, Acute panautonomic Guillain-Barré syndrome, Acute panautonomic neuropathy]","A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.",,,,,,,,, +GARD:20618,Active,Orphanet,ORPHA:231466,Disorder,[Disease],Acute sensory ataxic neuropathy,"[ASAN, Acute sensory ataxic GBS, Acute sensory ataxic Guillain-Barré syndrome]","A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.",,,,,,,,, +GARD:20619,Active,Orphanet,ORPHA:231573,Disorder,[Disease],Congenital erosive and vesicular dermatosis,"[CEVD, Congenital erosive and vesicular dermatosis with reticulated supple scarring]","Congenital erosive and vesicular dermatosis is a rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.",,,,,,,,, +GARD:20620,Active,Orphanet,ORPHA:231580,Disorder,[Disease],Primary unilateral adrenal hyperplasia,[PUAH],"Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.",,,,,,,,, +GARD:20621,Active,Orphanet,ORPHA:231625,Disorder,[Disease],Adrenocortical carcinoma with pure aldosterone hypersecretion,"[Pure APAC, Pure aldosterone-producing adrenocortical carcinoma, Pure aldosterone-secreting adrenocortical carcinoma]",A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.,,,,,,,,, +GARD:20622,Active,Orphanet,ORPHA:231632,Disorder,[Disease],Ectopic aldosterone-producing tumor,[Extra-adrenal aldosterone-producing tumor],"Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.",,,,,,,,, +GARD:20623,Active,Orphanet,ORPHA:231637,Group of disorders,[Category],Rare surgically correctable form of primary aldosteronism,,"Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.",,,,,,,,, +GARD:20624,Active,Orphanet,ORPHA:231641,Group of disorders,[Category],Rare non surgically correctable form of primary aldosteronism,,,,,,,,,,, +GARD:20625,Active,Orphanet,ORPHA:231742,Disorder,[Malformation syndrome],Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,,"Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.",,,,,,,,, +GARD:20626,Active,Orphanet,ORPHA:232035,Group of disorders,[Category],Infectious embryofetopathy,,,,,,,,,,, +GARD:20627,Active,Orphanet,ORPHA:232288,Group of disorders,[Category],Syndrome with alpha-thalassemia as a major feature,,"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).",,,,,,,,, +GARD:20628,Active,Orphanet,ORPHA:233655,Group of disorders,[Category],Rare genetic vascular disease,,,,,,,,,,, +GARD:20629,Active,Orphanet,ORPHA:235832,Group of disorders,[Clinical group],Congenital vascular bone syndrome,,,,,,,,,,, +GARD:2063,Legacy,GARD,,,,,,,,,,,,Ectrodactyly cardiopathy dysmorphism,TRUE,FALSE,Active +GARD:20630,Active,Orphanet,ORPHA:235936,Group of disorders,[Clinical group],Familial hyperaldosteronism,[FH],"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.",,,,,,,,, +GARD:20631,Active,Orphanet,ORPHA:238269,Subtype of disorder,[Clinical subtype],AApoAII amyloidosis,"[Apolipoprotein A-II amyloidosis, Familial amyloid nephropathy due to apolipoprotein A-II variant, Familial renal amyloidosis due to apolipoprotein A-II variant, Hereditary amyloid nephropathy due to apolipoprotein A-II variant, Hereditary renal amyloidosis due to apolipoprotein A-II variant]","A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.",,,,,,,,, +GARD:20632,Active,Orphanet,ORPHA:238305,Disorder,[Disease],Infundibulo-neurohypophysitis,,"Infundibulo-neurohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.",,,,,,,,, +GARD:20633,Active,Orphanet,ORPHA:238510,Group of disorders,[Clinical group],Lymphoproliferative syndrome,,,,,,,,,,, +GARD:20634,Active,Orphanet,ORPHA:238517,Group of disorders,[Clinical group],Hypotonia-cystinuria type 1 syndrome,,,,,,,,,,, +GARD:20635,Active,Orphanet,ORPHA:238536,Group of disorders,[Category],Congenital secondary polycythemia,[Congenital secondary erythrocytosis],,,,,,,,,, +GARD:20636,Active,Orphanet,ORPHA:238547,Group of disorders,[Category],Acquired secondary polycythemia,[Acquired secondary erythrocytosis],,,,,,,,,, +GARD:20637,Active,Orphanet,ORPHA:238621,Disorder,[Particular clinical situation in a disease or syndrome],Ileal pouch anal anastomosis related faecal incontinence,,"A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient.",,,,,,,,, +GARD:20638,Active,Orphanet,ORPHA:238637,Disorder,[Disease],Megacystis-megaureter syndrome,[Megaureter-megacystis syndrome],"Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.",,,,,,,,, +GARD:20639,Active,Orphanet,ORPHA:238642,Subtype of disorder,[Clinical subtype],"Primary megaureter, adult-onset form",,,,,,,,,,, +GARD:2064,Legacy,GARD,,,,,,,,,,,,Ectrodactyly cleft palate syndrome,TRUE,FALSE,Retired +GARD:20640,Active,Orphanet,ORPHA:238646,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, obstructed form",,,,,,,,,,, +GARD:20641,Active,Orphanet,ORPHA:238650,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, refluxing form",,,,,,,,,,, +GARD:20642,Active,Orphanet,ORPHA:238654,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, nonrefluxing and unobstructed form",,,,,,,,,,, +GARD:20643,Active,Orphanet,ORPHA:238666,Disorder,[Disease],Isolated congenital hypogonadotropic hypogonadism,"[Gonadotropic deficiency, Isolated congenital gonadotropin deficiency, Isolated gonadotropin-releasing hormone deficiency]","A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).",,,,,,,,, +GARD:20644,Active,Orphanet,ORPHA:238688,Disorder,[Disease],Neonatal iodine exposure,,"Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.",,,,,,,,, +GARD:20645,Active,Orphanet,ORPHA:238696,Group of disorders,[Category],Transient congenital hypothyroidism due to maternal factor,,,,,,,,,,, +GARD:20646,Active,Orphanet,ORPHA:238699,Group of disorders,[Category],Transient congenital hypothyroidism due to neonatal factor,,,,,,,,,,, +GARD:20647,Active,Orphanet,ORPHA:240094,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,"[PSP-PAGF, PSP-pure akinesia with gait freezing]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.",,,,,,,,, +GARD:20648,Active,Orphanet,ORPHA:240103,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-corticobasal syndrome,"[PSP-CBS, PSP-corticobasal syndrome]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.",,,,,,,,, +GARD:20649,Active,Orphanet,ORPHA:240112,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,"[PSP-AOS, PSP-PNFA, Progressive supranuclear palsy-apraxia of speech syndrome]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.",,,,,,,,, +GARD:20650,Active,Orphanet,ORPHA:240371,Group of disorders,[Category],Syndromic obesity,,,,,,,,,,, +GARD:20651,Active,Orphanet,ORPHA:244275,Disorder,[Particular clinical situation in a disease or syndrome],De novo thrombotic microangiopathy after kidney transplantation,,,,,,,,,,, +GARD:20652,Active,Orphanet,ORPHA:244283,Disorder,[Malformation syndrome],Biliary atresia with splenic malformation syndrome,[BASM syndrome],"Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.",,,,,,,,, +GARD:20653,Active,Orphanet,ORPHA:247165,Disorder,[Disease],Infantile mercury poisoning,"[Erythroedema polyneuritis, Feer disease, Infantile acrodynia, Infantile mercury intoxication, Pink disease, Swift disease, Swift-Feer disease]","Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.",,,,,,,,, +GARD:20654,Active,Orphanet,ORPHA:247234,Disorder,[Disease],Sporadic adult-onset ataxia of unknown etiology,"[Idiopathic late-onset cerebellar ataxia, SAOA]","A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.",,,,,,,,, +GARD:20655,Active,Orphanet,ORPHA:247239,Group of disorders,[Category],Non-hereditary degenerative ataxia,,,,,,,,,,, +GARD:20656,Active,Orphanet,ORPHA:247242,Group of disorders,[Category],Acquired ataxia,,,,,,,,,,, +GARD:20657,Active,Orphanet,ORPHA:247257,Disorder,[Disease],Inhalational anthrax,"[Inhalation anthrax disease, Pulmonary anthrax, Respiratory anthrax, Respiratory anthrax disease]","Inhalational anthrax is a rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.",,,,,,,,, +GARD:20658,Active,Orphanet,ORPHA:247378,Disorder,[Disease],Autosomal recessive secondary polycythemia not associated with VHL gene,"[Autosomal recessive secondary erythrocytosis not associated with VHL gene, Autosomal recessive secondary erythrocytosis, non-Chuvash type, Autosomal recessive secondary polycythemia, non-Chuvash type]","A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.",,,,,,,,, +GARD:20659,Active,Orphanet,ORPHA:247546,Subtype of disorder,[Clinical subtype],Acute neonatal citrullinemia type I,"[Acute neonatal citrullinemia type 1, Classic citrullinemia type 1, Classic citrullinemia type I]","A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.",,,,,,,,, +GARD:20660,Active,Orphanet,ORPHA:247573,Subtype of disorder,[Clinical subtype],Adult-onset citrullinemia type I,"[Adult-onset citrullinemia type 1, Late-onset citrullinemia type 1, Late-onset citrullinemia type I]","A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.",,,,,,,,, +GARD:20661,Active,Orphanet,ORPHA:247582,Group of disorders,[Category],Citrin deficiency,,"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).",,,,,,,,, +GARD:20662,Active,Orphanet,ORPHA:247638,Subtype of disorder,[Clinical subtype],Prenatal benign hypophosphatasia,"[Prenatal benign Rathbun disease, Prenatal benign phosphoethanolaminuria]",A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.,,,,,,,,, +GARD:20663,Active,Orphanet,ORPHA:247718,Disorder,[Disease],Inflammatory myopathy with abundant macrophages,[IMAM],"A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.",,,,,,,,, +GARD:20664,Active,Orphanet,ORPHA:247724,Disorder,[Disease],Idiopathic eosinophilic myositis,[Idiopathic eosinophilia-associated myopathy],"A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral aquilae retraction, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.",,,,,,,,, +GARD:20665,Active,Orphanet,ORPHA:247765,Group of disorders,[Category],X-linked cerebellar ataxia,,,,,,,,,,, +GARD:20666,Active,Orphanet,ORPHA:247815,Disorder,[Disease],Autosomal recessive ataxia due to PEX10 deficiency,[Mild peroxisomal disorder due to PEX10 deficiency],,,,,,,,,, +GARD:20667,Active,Orphanet,ORPHA:248095,Group of disorders,[Clinical group],Primary hypertrophic osteoarthropathy,"[Idiopathic hypertrophic osteoarthropathy, PHO]","Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).",,,,,,,,, +GARD:20668,Active,Orphanet,ORPHA:248293,Group of disorders,[Category],Rare deficiency anemia,,,,,,,,,,, +GARD:20669,Active,Orphanet,ORPHA:248296,Group of disorders,[Category],Constitutional deficiency anemia,,,,,,,,,,, +GARD:20670,Active,Orphanet,ORPHA:248302,Group of disorders,[Category],Rare acquired deficiency anemia,,,,,,,,,,, +GARD:20671,Active,Orphanet,ORPHA:248308,Group of disorders,[Category],Rare hemorrhagic disorder,[Rare bleeding disorder],,,,,,,,,, +GARD:20672,Active,Orphanet,ORPHA:248315,Group of disorders,[Category],Rare hemorrhagic disorder due to a coagulation factors defect,"[Rare bleeding disorder due to a coagulation factors defect, Rare coagulopathy due to a coagulation factor defect]",,,,,,,,,, +GARD:20673,Active,Orphanet,ORPHA:248326,Group of disorders,[Category],Rare hemorrhagic disorder due to a platelet anomaly,"[Rare bleeding disorder due to a platelet anomaly, Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia, Rare coagulopathy due to a platelet anomaly, Rare coagulopathy due to a thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:20674,Active,Orphanet,ORPHA:248340,Disorder,[Disease],Isolated delta-storage pool disease,"[Isolated delta-SPD, Isolated dense-SPD, Isolated dense-storage pool disease]","Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.",,,,,,,,, +GARD:20675,Active,Orphanet,ORPHA:248347,Group of disorders,[Category],Rare hemorrhagic disorder due to an acquired platelet anomaly,"[Rare bleeding disorder due to an acquired platelet anomaly, Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia, Rare coagulopathy due to an acquired platelet anomaly, Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:20676,Active,Orphanet,ORPHA:248358,Group of disorders,[Category],Rare thrombotic disorder due to a coagulation factors defect,,,,,,,,,,, +GARD:20677,Active,Orphanet,ORPHA:248361,Group of disorders,[Category],Rare thrombotic disorder due to a constitutional coagulation factors defect,,,,,,,,,,, +GARD:20678,Active,Orphanet,ORPHA:248365,Group of disorders,[Category],Rare thrombotic disorder due to an acquired coagulation factors defect,,,,,,,,,,, +GARD:20679,Active,Orphanet,ORPHA:248368,Group of disorders,[Category],Rare thrombotic disorder due to a platelet anomaly,,,,,,,,,,, +GARD:2068,Active,Orphanet,ORPHA:1892,Disorder,[Malformation syndrome],Ectrodactyly-polydactyly syndrome,,"Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.",[225290],,,,,Ectrodactyly polydactyly,TRUE,FALSE,Active +GARD:20680,Active,Orphanet,ORPHA:248401,Group of disorders,[Category],Rare thrombotic disorder due to a constitutional platelet anomaly,,,,,,,,,,, +GARD:20681,Active,Orphanet,ORPHA:248404,Group of disorders,[Category],Rare thrombotic disorder due to an acquired platelet anomaly,,,,,,,,,,, +GARD:20682,Active,Orphanet,ORPHA:250165,Group of disorders,[Category],Genetic polycythemia,,,,,,,,,,, +GARD:20683,Active,Orphanet,ORPHA:250805,Group of disorders,[Category],Serpinopathy,,,,,,,,,,, +GARD:20684,Active,Orphanet,ORPHA:250808,Group of disorders,[Category],Serpinopathy with toxic serpin polymerization,,,,,,,,,,, +GARD:20685,Active,Orphanet,ORPHA:250811,Group of disorders,[Category],Serpinopathy with loss of serpin function,,,,,,,,,,, +GARD:20686,Active,Orphanet,ORPHA:250932,Disorder,[Disease],Autosomal dominant optic atrophy and peripheral neuropathy,,"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.",,,,,,,,, +GARD:20687,Active,Orphanet,ORPHA:250972,Disorder,[Malformation syndrome],Polymicrogyria with optic nerve hypoplasia,,"Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.",,,,,,,,, +GARD:20688,Active,Orphanet,ORPHA:251004,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 1,[UPD(1)pat],Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:20689,Active,Orphanet,ORPHA:251009,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 1,[UPD(1)mat],Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:20690,Active,Orphanet,ORPHA:251014,Disorder,[Malformation syndrome],2q31.1 microdeletion syndrome,"[Del(2)(q31.1), Monosomy 2q31.1]","2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.",,,,,,,,, +GARD:20691,Active,Orphanet,ORPHA:251046,Disorder,[Malformation syndrome],6p22 microdeletion syndrome,"[Del(6)(p22), Monosomy 6p22]","6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.",,,,,,,,, +GARD:20692,Active,Orphanet,ORPHA:251061,Disorder,[Malformation syndrome],7q31 microdeletion syndrome,"[Del(7)(q31), Monosomy 7q31]","7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.",,,,,,,,, +GARD:20693,Active,Orphanet,ORPHA:251066,Disorder,[Malformation syndrome],8p11.2 deletion syndrome,"[Del(8)(p11.2), Monosomy 8p11.2]","8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.",,,,,,,,, +GARD:20694,Active,Orphanet,ORPHA:251304,Disorder,[Disease],Infantile onset panniculitis with uveitis and systemic granulomatosis,,"Infantile onset panniculitis with uveitis and systemic granulomatosis is a rare granulomatous autoinflammatroy disease characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.",,,,,,,,, +GARD:20695,Active,Orphanet,ORPHA:251307,Disorder,[Disease],Idiopathic recurrent pericarditis,[Idiopathic relapsing pericarditis],"Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.",,,,,,,,, +GARD:20696,Active,Orphanet,ORPHA:251312,Group of disorders,[Clinical group],Overlapping connective tissue disease,,,,,,,,,,, +GARD:20697,Active,Orphanet,ORPHA:251325,Disorder,[Disease],Drug-induced vasculitis,,"A rare secondary vasculitis characterized by an inflammation of blood vessels caused by various pharmaceutical agents, including certain antibiotics, anti-tumor necrosis factor-alpha agents, and psychoactive agents, among others. The skin is most commonly affected, but other tissues and organs, such as the subcutis, kidneys, or lungs may also be involved. Systemic disease develops only in a minority of patients treated with the causative drug over a prolonged period of time. Typical presenting signs and symptoms include skin rash, myalgia, arthralgia, fever, and malaise.",,,,,,,,, +GARD:20698,Active,Orphanet,ORPHA:251328,Disorder,[Disease],Unclassified vasculitis,,"A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved.",,,,,,,,, +GARD:20699,Active,Orphanet,ORPHA:251332,Disorder,[Disease],Unexplained long-lasting fever/inflammatory syndrome,[Persistent fever/inflammation of unknown origin],A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.,,,,,,,,, +GARD:207,Active,Orphanet,ORPHA:284,Disorder,[Disease],Alveolar echinococcosis,[Echinococcus multilocularis infection],A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.,,,,,,Alveolar echinococcosis,TRUE,FALSE,Active +GARD:20700,Active,Orphanet,ORPHA:251375,Disorder,[Disease],Sickle cell-hemoglobin E disease syndrome,[HbSE disease],"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).",,,,,,,,, +GARD:20701,Active,Orphanet,ORPHA:251529,Group of disorders,[Category],Toxic or drug-related embryofetopathy,,,,,,,,,,, +GARD:20702,Active,Orphanet,ORPHA:251535,Group of disorders,[Category],Maternal disease-related embryofetopathy,,,,,,,,,,, +GARD:20703,Active,Orphanet,ORPHA:251558,Group of disorders,[Category],Rare tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20704,Active,Orphanet,ORPHA:251561,Group of disorders,[Clinical group],High-grade astrocytoma,,,,,,,,,,, +GARD:20705,Active,Orphanet,ORPHA:251579,Subtype of disorder,[Histopathological subtype],Giant cell glioblastoma,,,,,,,,,,, +GARD:20706,Active,Orphanet,ORPHA:251592,Group of disorders,[Clinical group],Low-grade astrocytoma,,,,,,,,,,, +GARD:20707,Active,Orphanet,ORPHA:251598,Subtype of disorder,[Histopathological subtype],Protoplasmic astrocytoma,,,,,,,,,,, +GARD:20708,Active,Orphanet,ORPHA:251601,Subtype of disorder,[Histopathological subtype],Fibrillary astrocytoma,,,,,,,,,,, +GARD:20709,Active,Orphanet,ORPHA:251604,Subtype of disorder,[Histopathological subtype],Gemistocytic astrocytoma,,,,,,,,,,, +GARD:2071,Active,Orphanet,ORPHA:1997,Disorder,[Malformation syndrome],Blepharo-cheilo-odontic syndrome,"[BCD syndrome, Blepharocheilodontic syndrome, Clefting-ectropion-conical teeth syndrome, Ectropion inferior-cleft lip and/or palate syndrome, Elschnig syndrome, Lagophthalmia-cleft lip and palate syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.","[119580, 617681]",,,,,Blepharo-cheilo-odontic syndrome,TRUE,FALSE,Active +GARD:20710,Active,Orphanet,ORPHA:251615,Subtype of disorder,[Histopathological subtype],Pilomyxoid astrocytoma,,,,,,,,,,, +GARD:20711,Active,Orphanet,ORPHA:251623,Disorder,[Disease],Pituicytoma,,"A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.",,,,,,,,, +GARD:20712,Active,Orphanet,ORPHA:251651,Group of disorders,[Clinical group],Oligoastrocytic tumor,[Mixed oligodendroglial and astrocytic tumor],,,,,,,,,, +GARD:20713,Active,Orphanet,ORPHA:251668,Group of disorders,[Clinical group],Glial tumor of neuroepithelial tissue with unknown origin,,,,,,,,,,, +GARD:20714,Active,Orphanet,ORPHA:251671,Disorder,[Disease],Angiocentric glioma,,"An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.",,,,,,,,, +GARD:20715,Active,Orphanet,ORPHA:251674,Disorder,[Disease],Chordoid glioma,,"Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.",,,,,,,,, +GARD:20716,Active,Orphanet,ORPHA:251852,Group of disorders,[Category],Embryonal tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20717,Active,Orphanet,ORPHA:251855,Subtype of disorder,[Histopathological subtype],Anaplastic/large cell medulloblastoma,,"A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.",,,,,,,,, +GARD:20718,Active,Orphanet,ORPHA:251870,Group of disorders,[Clinical group],Central nervous system embryonal tumor,"[CNS PNET, Central nervous system primitive neuroectodermal tumor]",,,,,,,,,, +GARD:20719,Active,Orphanet,ORPHA:251877,Disorder,[Disease],Ganglioneuroblastoma,,"Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.",,,,,,,,, +GARD:20720,Active,Orphanet,ORPHA:251880,Disorder,[Disease],Ependymoblastoma,,Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.,,,,,,,,, +GARD:20721,Active,Orphanet,ORPHA:251883,Disorder,[Disease],Medulloepithelioma of the central nervous system,,"Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.",,,,,,,,, +GARD:20722,Active,Orphanet,ORPHA:251896,Group of disorders,[Clinical group],Choroid plexus tumor,,,,,,,,,,, +GARD:20723,Active,Orphanet,ORPHA:251902,Disorder,[Disease],Atypical papilloma of choroid plexus,"[Atypical CPP, Atypical choroid plexus papilloma]","A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.",,,,,,,,, +GARD:20724,Active,Orphanet,ORPHA:251905,Group of disorders,[Clinical group],Pineal tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20725,Active,Orphanet,ORPHA:251915,Disorder,[Disease],Papillary tumor of the pineal region,[PTPR],"Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.",,,,,,,,, +GARD:20726,Active,Orphanet,ORPHA:251924,Group of disorders,[Clinical group],Neuronal tumor,,,,,,,,,,, +GARD:20727,Active,Orphanet,ORPHA:251927,Disorder,[Disease],Extraventricular neurocytoma,[EVN],"Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.",,,,,,,,, +GARD:20728,Active,Orphanet,ORPHA:251934,Group of disorders,[Clinical group],Mixed neuronal-glial tumor,,,,,,,,,,, +GARD:20729,Active,Orphanet,ORPHA:251940,Disorder,[Disease],Desmoplastic infantile astrocytoma/ganglioglioma,[DIA/DIG],"Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.",,,,,,,,, +GARD:20730,Active,Orphanet,ORPHA:251962,Disorder,[Disease],Papillary glioneuronal tumor,"[PGNT, Pseudopapillary ganglioglioneurocytoma, Pseudopapillary neurocytoma with glial differentiation]","A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.",,,,,,,,, +GARD:20731,Active,Orphanet,ORPHA:251992,Disorder,[Disease],Ganglioneuroma,,"Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.",,,,,,,,, +GARD:20732,Active,Orphanet,ORPHA:251995,Group of disorders,[Category],Primary germ cell tumor of central nervous system,[Primary germ cell tumor of CNS],,,,,,,,,, +GARD:20733,Active,Orphanet,ORPHA:252006,Subtype of disorder,[Clinical subtype],Yolk sac tumor of central nervous system,"[Endodermal sinus tumor of CNS, Endodermal sinus tumor of central nervous system, Intracranial endodermal sinus tumor, Intracranial yolk sac tumor, Yolk sac tumor of CNS]",,,,,,,,,, +GARD:20734,Active,Orphanet,ORPHA:252015,Disorder,[Disease],Choriocarcinoma of the central nervous system,,"A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.",,,,,,,,, +GARD:20735,Active,Orphanet,ORPHA:252018,Subtype of disorder,[Clinical subtype],Teratoma of the central nervous system,,,,,,,,,,, +GARD:20736,Active,Orphanet,ORPHA:252021,Subtype of disorder,[Clinical subtype],Mixed germ cell tumor of central nervous system,[Mixed germ cell tumor of CNS],,,,,,,,,, +GARD:20737,Active,Orphanet,ORPHA:252025,Group of disorders,[Category],Tumor of meninges,,,,,,,,,,, +GARD:20738,Active,Orphanet,ORPHA:252028,Group of disorders,[Category],Primary melanocytic tumor of central nervous system,"[Primary melanocytic lesion of CNS, Primary melanocytic lesion of central nervous system, Primary melanocytic tumor of CNS]",,,,,,,,,, +GARD:20739,Active,Orphanet,ORPHA:252031,Disorder,[Disease],Diffuse leptomeningeal melanocytosis,"[DLM, Leptomeningeal melanomatosis]","Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.",,,,,,,,, +GARD:2074,Active,Orphanet,ORPHA:1895,Disorder,[Malformation syndrome],Edinburgh malformation syndrome,[Typus Edinburgensis],"Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.",[129850],,,,,Edinburgh malformation syndrome,TRUE,FALSE,Active +GARD:20740,Active,Orphanet,ORPHA:252046,Disorder,[Disease],Meningeal melanocytoma,,"A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.",,,,,,,,, +GARD:20741,Active,Orphanet,ORPHA:252128,Subtype of disorder,[Histopathological subtype],Malignant peripheral nerve sheath tumor with perineurial differentiation,[Malignant perineurioma],"Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.",,,,,,,,, +GARD:20742,Active,Orphanet,ORPHA:252190,Group of disorders,[Category],Inherited nervous system cancer-predisposing syndrome,,,,,,,,,,, +GARD:20743,Active,Orphanet,ORPHA:252212,Subtype of disorder,[Histopathological subtype],Malignant triton tumor,"[MPNST with rhabdomyosarcomatous differentiation, MTT, Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation]",Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.,,,,,,,,, +GARD:20744,Active,Orphanet,ORPHA:254370,Group of disorders,[Category],Rare cutaneous lichen planus,[Rare cutaneous LP],,,,,,,,,, +GARD:20745,Active,Orphanet,ORPHA:254373,Group of disorders,[Category],Rare mucosal lichen planus,[Rare mucosal LP],,,,,,,,,, +GARD:20746,Active,Orphanet,ORPHA:254504,Subtype of disorder,[Clinical subtype],Inhalational botulism,[Inhalation botulism],"Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).",,,,,,,,, +GARD:20747,Active,Orphanet,ORPHA:254509,Subtype of disorder,[Clinical subtype],Iatrogenic botulism,[Inadvertent botulism],"Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.",,,,,,,,, +GARD:20748,Active,Orphanet,ORPHA:254685,Group of disorders,[Category],Gestational trophoblastic disease,,,,,,,,,,, +GARD:20749,Active,Orphanet,ORPHA:254693,Subtype of disorder,[Clinical subtype],Partial hydatidiform mole,"[Incomplete hydatidiform mole, Incomplete molar pregnancy, Partial molar pregnancy]","A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.",,,,,,,,, +GARD:20750,Active,Orphanet,ORPHA:254698,Disorder,[Disease],Epithelioid trophoblastic tumor,,A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels.,,,,,,,,, +GARD:20751,Active,Orphanet,ORPHA:254704,Disorder,[Biological anomaly],Genetic hyperferritinemia without iron overload,[Benign hyperferritinemia],"Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.",,,,,,,,, +GARD:20752,Active,Orphanet,ORPHA:254746,Group of disorders,[Category],Pyruvate metabolism disorder,,,,,,,,,,, +GARD:20753,Active,Orphanet,ORPHA:254749,Group of disorders,[Category],Tricarboxylic acid cycle disorder,"[Citric acid cycle disorder, Krebs cycle disorder, TCA cycle disorder]",,,,,,,,,, +GARD:20754,Active,Orphanet,ORPHA:254758,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies,"[Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies, OXPHOS disease due to mitochondrial DNA anomalies, OXPHOS disease due to mtDNA anomalies]",,,,,,,,,, +GARD:20755,Active,Orphanet,ORPHA:254767,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA,"[Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA, OXPHOS disease due to a large-scale single deletion of mitochondrial DNA, OXPHOS disease due to a large-scale single deletion of mtDNA]",,,,,,,,,, +GARD:20756,Active,Orphanet,ORPHA:254776,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA,"[Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA, OXPHOS disease due to a point mutation of mitochondrial DNA, OXPHOS disease due to a point mutation of mtDNA]",,,,,,,,,, +GARD:20757,Active,Orphanet,ORPHA:254788,Group of disorders,[Clinical group],Mitochondrial DNA-related mitochondrial myopathy,"[Maternally-inherited mitochondrial myopathy, mtDNA-related mitochondrial myopathy]","A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.",,,,,,,,, +GARD:20758,Active,Orphanet,ORPHA:254807,Group of disorders,[Category],Multiple mitochondrial DNA deletion syndrome,[Multiple mtDNA deletion syndrome],,,,,,,,,, +GARD:20759,Active,Orphanet,ORPHA:254818,Group of disorders,[Clinical group],Ataxia neuropathy spectrum,,,,,,,,,,, +GARD:2076,Active,Orphanet,ORPHA:1896,Disorder,[Malformation syndrome],EEC syndrome,[Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome],"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).","[129900, 604292]",,,,,EEC syndrome,TRUE,FALSE,Active +GARD:20760,Active,Orphanet,ORPHA:254822,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder with no known mechanism,[OXPHOS disease with no known mechanism],,,,,,,,,, +GARD:20761,Active,Orphanet,ORPHA:254827,Group of disorders,[Category],Mitochondrial membrane transport disorder,,,,,,,,,,, +GARD:20762,Active,Orphanet,ORPHA:254830,Group of disorders,[Category],Mitochondrial substrate carrier disorder,,,,,,,,,,, +GARD:20763,Active,Orphanet,ORPHA:254834,Group of disorders,[Category],Mitochondrial protein import disorder,,,,,,,,,,, +GARD:20764,Active,Orphanet,ORPHA:254837,Group of disorders,[Clinical group],Unspecified mitochondrial disorder,,,,,,,,,,, +GARD:20765,Active,Orphanet,ORPHA:254843,Group of disorders,[Clinical group],Exercise intolerance with lactic acidosis,,,,,,,,,,, +GARD:20766,Active,Orphanet,ORPHA:254846,Group of disorders,[Category],Isolated oxidative phosphorylation complex disorder,[Isolated respiratory chain complex disorder],,,,,,,,,, +GARD:20767,Active,Orphanet,ORPHA:254851,Disorder,[Disease],Mitochondrial DNA-related dystonia,"[Maternally-inherited mitochondrial dystonia, mtDNA-related dystonia]",Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.,,,,,,,,, +GARD:20768,Active,Orphanet,ORPHA:254854,Disorder,[Disease],Pure mitochondrial myopathy,,"Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.",,,,,,,,, +GARD:20769,Active,Orphanet,ORPHA:254871,Group of disorders,[Clinical group],"Mitochondrial DNA depletion syndrome, hepatocerebral form","[Deoxyguanosine kinase deficiency, mtDNA depletion syndrome, hepatocerebral form]",,,,,,,,,, +GARD:2077,Legacy,GARD,,,,,,,,,,,,Ectrodactyly and ectodermal dysplasia without cleft lip/palate,TRUE,FALSE,Retired +GARD:20770,Active,Orphanet,ORPHA:261102,Disorder,[Malformation syndrome],Distal 7q11.23 microduplication syndrome,"[Distal dup(7)(q11.23), Distal trisomy 7q11.23, Dup7q11.23D]","Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.",,,,,,,,, +GARD:20771,Active,Orphanet,ORPHA:261144,Subtype of disorder,[Clinical subtype],FOXG1 syndrome due to 14q12 microdeletion,"[Del(14)(q12), Monosomy 14q12]","14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.",,,,,,,,, +GARD:20772,Active,Orphanet,ORPHA:261204,Disorder,[Malformation syndrome],16p11.2p12.2 microduplication syndrome,"[Dup(16)(p11.2p12.2), Trisomy 16p11.2p12.2]","16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.",,,,,,,,, +GARD:20773,Active,Orphanet,ORPHA:261229,Disorder,[Malformation syndrome],14q11.2 microduplication syndrome,"[Dup(14)(q11.2), Trisomy 14q11.2]","14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.",,,,,,,,, +GARD:20774,Active,Orphanet,ORPHA:261236,Disorder,[Malformation syndrome],16p13.11 microdeletion syndrome,"[Del(16)(p13.11), Monosomy 16p13.11]","16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.",,,,,,,,, +GARD:20775,Active,Orphanet,ORPHA:261243,Disorder,[Malformation syndrome],16p13.11 microduplication syndrome,"[Dup(16)(p13.11), Trisomy 16p13.11]","16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.",,,,,,,,, +GARD:20776,Active,Orphanet,ORPHA:261257,Disorder,[Malformation syndrome],Distal 17p13.3 microdeletion syndrome,"[Distal del(17)(p13.3 ), Distal monosomy 17p13.3]","Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.",,,,,,,,, +GARD:20777,Active,Orphanet,ORPHA:261304,Disorder,[Malformation syndrome],Paternal 20q13.2q13.3 microdeletion syndrome,"[Paternal del(20)(q13.2q13.3), Paternal monosomy 20q13.2q13.3]","Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.",,,,,,,,, +GARD:20778,Active,Orphanet,ORPHA:261311,Disorder,[Malformation syndrome],20q13.33 microdeletion syndrome,"[Del(20)(q13.33), Monosomy 20q13.33]","A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.",,,,,,,,, +GARD:20779,Active,Orphanet,ORPHA:261323,Disorder,[Malformation syndrome],21q22.11q22.12 microdeletion syndrome,"[Del(21)(q22.11q22.12), Monosomy 21q22.11q22.12]","A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.",,,,,,,,, +GARD:2078,Active,Orphanet,ORPHA:1897,Disorder,[Malformation syndrome],EEM syndrome,[Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome],"A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.",[225280],,,,,EEM syndrome,TRUE,FALSE,Active +GARD:20780,Active,Orphanet,ORPHA:261337,Disorder,[Malformation syndrome],Distal 22q11.2 microduplication syndrome,"[Distal dup(22)(q11.2), Distal trisomy 22q11.2]","A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.",,,,,,,,, +GARD:20781,Active,Orphanet,ORPHA:261344,Disorder,[Malformation syndrome],Trisomy 1q,[Duplication 1q],"Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.",,,,,,,,, +GARD:20782,Active,Orphanet,ORPHA:261501,Disorder,[Malformation syndrome],Atypical Norrie disease due to Xp11.3 microdeletion,"[Atypical Norrie disease due to del(X)(p11.3), Atypical Norrie disease due to nullisomy Xp11.3]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.",,,,,,,,, +GARD:20783,Active,Orphanet,ORPHA:261519,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome X,[UPD(X)mat],A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:20784,Active,Orphanet,ORPHA:261524,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome X,[UPD(X)pat],A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:20785,Active,Orphanet,ORPHA:261529,Disorder,[Malformation syndrome],Ring chromosome Y syndrome,"[Ring chromosome Y, r(Y)]","Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.",,,,,,,,, +GARD:20786,Active,Orphanet,ORPHA:261584,Subtype of disorder,[Etiological subtype],Familial adenomatous polyposis due to 5q22.2 microdeletion,"[Colorectal adenomatous polyposis due to monosomy 5q22.2, FAP due to monosomy 5q22.2, Familial adenomatous polyposis due to del(5)(q22.2), Familial adenomatous polyposis due to monosomy 5q22.2, Familial polyposis coli due to monosomy 5q22.2]",,,,,,,,,, +GARD:20787,Active,Orphanet,ORPHA:261638,Subtype of disorder,[Etiological subtype],Okihiro syndrome due to 20q13 microdeletion,"[Duane-radial ray syndrome due to monosomy 20q13, Okihiro syndrome due to del(20)(q13), Okihiro syndrome due to monosomy 20q13]",,,,,,,,,, +GARD:20788,Active,Orphanet,ORPHA:261647,Subtype of disorder,[Etiological subtype],Okihiro syndrome due to a point mutation,[Duane-radial ray syndrome due to a point mutation],,,,,,,,,, +GARD:20789,Active,Orphanet,ORPHA:261766,Group of disorders,[Category],Partial deletion of chromosome 1,[Partial monosomy of chromosome 1],,,,,,,,,, +GARD:20790,Active,Orphanet,ORPHA:261771,Group of disorders,[Category],Partial deletion of chromosome 2,[Partial monosomy of chromosome 2],,,,,,,,,, +GARD:20791,Active,Orphanet,ORPHA:261776,Group of disorders,[Category],Partial deletion of chromosome 3,[Partial monosomy of chromosome 3],,,,,,,,,, +GARD:20792,Active,Orphanet,ORPHA:261781,Group of disorders,[Category],Partial deletion of chromosome 4,[Partial monosomy of chromosome 4],,,,,,,,,, +GARD:20793,Active,Orphanet,ORPHA:261786,Group of disorders,[Category],Partial deletion of chromosome 5,[Partial monosomy of chromosome 5],,,,,,,,,, +GARD:20794,Active,Orphanet,ORPHA:261791,Group of disorders,[Category],Partial deletion of chromosome 6,[Partial monosomy of chromosome 6],,,,,,,,,, +GARD:20795,Active,Orphanet,ORPHA:261796,Group of disorders,[Category],Partial deletion of chromosome 7,[Partial monosomy of chromosome 7],,,,,,,,,, +GARD:20796,Active,Orphanet,ORPHA:261801,Group of disorders,[Category],Partial deletion of chromosome 8,[Partial monosomy of chromosome 8],,,,,,,,,, +GARD:20797,Active,Orphanet,ORPHA:261806,Group of disorders,[Category],Partial deletion of chromosome 9,[Partial monosomy of chromosome 9],,,,,,,,,, +GARD:20798,Active,Orphanet,ORPHA:261811,Group of disorders,[Category],Partial deletion of chromosome 10,[Partial monosomy of chromosome 10],,,,,,,,,, +GARD:20799,Active,Orphanet,ORPHA:261816,Group of disorders,[Category],Partial deletion of chromosome 11,[Partial monosomy of chromosome 11],,,,,,,,,, +GARD:208,Legacy,GARD,,,,,,,,,,,,Giant mammary hamartoma,TRUE,FALSE,Active +GARD:20800,Active,Orphanet,ORPHA:261821,Group of disorders,[Category],Partial deletion of the long arm of chromosome 12,"[Partial deletion of chromosome 12q, Partial monosomy of chromosome 12q, Partial monosomy of the long arm of chromosome 12]",,,,,,,,,, +GARD:20801,Active,Orphanet,ORPHA:261826,Group of disorders,[Category],Partial deletion of chromosome 16,[Partial monosomy of chromosome 16],,,,,,,,,, +GARD:20802,Active,Orphanet,ORPHA:261831,Group of disorders,[Category],Partial deletion of chromosome 17,[Partial monosomy of chromosome 17],,,,,,,,,, +GARD:20803,Active,Orphanet,ORPHA:261836,Group of disorders,[Category],Partial deletion of chromosome 18,[Partial monosomy of chromosome 18],,,,,,,,,, +GARD:20804,Active,Orphanet,ORPHA:261841,Group of disorders,[Category],Partial deletion of chromosome 19,[Partial monosomy of chromosome 19],,,,,,,,,, +GARD:20805,Active,Orphanet,ORPHA:261846,Group of disorders,[Category],Partial deletion of chromosome 20,[Partial monosomy of chromosome 20],,,,,,,,,, +GARD:20806,Active,Orphanet,ORPHA:261857,Group of disorders,[Category],Partial deletion of the short arm of chromosome 1,"[Partial deletion of chromosome 1p, Partial monosomy of chromosome 1p, Partial monosomy of the short arm of chromosome 1]",,,,,,,,,, +GARD:20807,Active,Orphanet,ORPHA:261866,Group of disorders,[Category],Partial deletion of the short arm of chromosome 2,"[Partial deletion of chromosome 2p, Partial monosomy of chromosome 2p, Partial monosomy of the short arm of chromosome 2]",,,,,,,,,, +GARD:20808,Active,Orphanet,ORPHA:261884,Group of disorders,[Category],Partial deletion of the short arm of chromosome 4,"[Partial deletion of chromosome 4p, Partial monosomy of chromosome 4p, Partial monosomy of the short arm of chromosome 4]",,,,,,,,,, +GARD:20809,Active,Orphanet,ORPHA:261893,Group of disorders,[Category],Partial deletion of the short arm of chromosome 5,"[Partial deletion of chromosome 5p, Partial monosomy of chromosome 5p, Partial monosomy of the short arm of chromosome 5]",,,,,,,,,, +GARD:2081,Active,Orphanet,ORPHA:285,Disorder,[Disease],Hypermobile Ehlers-Danlos syndrome,"[EDS III, EDS-HT, Ehlers-Danlos syndrome hypermobility type, Ehlers-Danlos syndrome type 3, Hypermobile EDS, hEDS]","Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.",[130020],,,,,Hypermobile Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20810,Active,Orphanet,ORPHA:261902,Group of disorders,[Category],Partial deletion of the short arm of chromosome 6,"[Partial deletion of chromosome 6p, Partial monosomy of chromosome 6p, Partial monosomy of the short arm of chromosome 6]",,,,,,,,,, +GARD:20811,Active,Orphanet,ORPHA:261911,Group of disorders,[Category],Partial deletion of the short arm of chromosome 7,"[Partial deletion of chromosome 7p, Partial monosomy of chromosome 7p, Partial monosomy of the short arm of chromosome 7]",,,,,,,,,, +GARD:20812,Active,Orphanet,ORPHA:261920,Group of disorders,[Category],Partial deletion of the short arm of chromosome 8,"[Partial deletion of chromosome 8p, Partial monosomy of chromosome 8p, Partial monosomy of the short arm of chromosome 8]",,,,,,,,,, +GARD:20813,Active,Orphanet,ORPHA:261929,Group of disorders,[Category],Partial deletion of the short arm of chromosome 9,"[Partial deletion of chromosome 9p, Partial monosomy of chromosome 9p, Partial monosomy of the short arm of chromosome 9]",,,,,,,,,, +GARD:20814,Active,Orphanet,ORPHA:261938,Group of disorders,[Category],Partial deletion of the short arm of chromosome 10,"[Partial deletion of chromosome 10p, Partial monosomy of chromosome 10p, Partial monosomy of the short arm of chromosome 10]",,,,,,,,,, +GARD:20815,Active,Orphanet,ORPHA:261947,Group of disorders,[Category],Partial deletion of the short arm of chromosome 11,"[Partial deletion of chromosome 11p, Partial monosomy of chromosome 11p, Partial monosomy of the short arm of chromosome 11]",,,,,,,,,, +GARD:20816,Active,Orphanet,ORPHA:261956,Group of disorders,[Category],Partial deletion of the short arm of chromosome 16,"[Partial deletion of chromosome 16p, Partial monosomy of chromosome 16p, Partial monosomy of the short arm of chromosome 16]",,,,,,,,,, +GARD:20817,Active,Orphanet,ORPHA:261965,Group of disorders,[Category],Partial monosomy of the short arm of chromosome 17,"[Partial deletion of chromosome 17p, Partial deletion of the short arm of chromosome 17, Partial monosomy of chromosome 17p]",,,,,,,,,, +GARD:20818,Active,Orphanet,ORPHA:261974,Group of disorders,[Category],Partial deletion of the short arm of chromosome 18,"[Partial deletion of chromosome 18p, Partial monosomy of chromosome 18p, Partial monosomy of the short arm of chromosome 18]",,,,,,,,,, +GARD:20819,Active,Orphanet,ORPHA:261983,Group of disorders,[Category],Partial deletion of the short arm of chromosome 19,"[Partial deletion of chromosome 19p, Partial monosomy of chromosome 19p, Partial monosomy of the short arm of chromosome 19]",,,,,,,,,, +GARD:2082,Active,Orphanet,ORPHA:286,Disorder,[Disease],Vascular Ehlers-Danlos syndrome,"[Arterial-ecchymotic EDS, EDS IV, Ehlers-Danlos syndrome type 4, Sack-Barabas syndrome, Vascular EDS, vEDS]","A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.",[130050],,,,,Vascular Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20820,Active,Orphanet,ORPHA:261992,Group of disorders,[Category],Partial monosomy of the short arm of chromosome 20,"[Partial deletion of chromosome 20p, Partial deletion of the short arm of chromosome 20, Partial monosomy of chromosome 20p, Pure partial 20p deletion]",,,,,,,,,, +GARD:20821,Active,Orphanet,ORPHA:262001,Group of disorders,[Category],Partial deletion of the long arm of chromosome 1,"[Partial deletion of chromosome 1q, Partial monosomy of chromosome 1q, Partial monosomy of the long arm of chromosome 1]",,,,,,,,,, +GARD:20822,Active,Orphanet,ORPHA:262010,Group of disorders,[Category],Partial deletion of the long arm of chromosome 2,"[Partial deletion of chromosome 2q, Partial monosomy of chromosome 2q, Partial monosomy of the long arm of chromosome 2]",,,,,,,,,, +GARD:20823,Active,Orphanet,ORPHA:262019,Group of disorders,[Category],Partial deletion of the long arm of chromosome 3,"[Partial deletion of chromosome 3q, Partial monosomy of chromosome 3q, Partial monosomy of the long arm of chromosome 3]",,,,,,,,,, +GARD:20824,Active,Orphanet,ORPHA:262029,Group of disorders,[Category],Partial deletion of the long arm of chromosome 4,"[Partial deletion of chromosome 4q, Partial monosomy of chromosome 4q, Partial monosomy of the long arm of chromosome 4]",,,,,,,,,, +GARD:20825,Active,Orphanet,ORPHA:262038,Group of disorders,[Category],Partial deletion of the long arm of chromosome 5,"[Partial deletion of chromosome 5q, Partial monosomy of chromosome 5q, Partial monosomy of the long arm of chromosome 5]",,,,,,,,,, +GARD:20826,Active,Orphanet,ORPHA:262047,Group of disorders,[Category],Partial deletion of the long arm of chromosome 6,"[Partial deletion of chromosome 6q, Partial monosomy of chromosome 6q, Partial monosomy of the long arm of chromosome 6]",,,,,,,,,, +GARD:20827,Active,Orphanet,ORPHA:262056,Group of disorders,[Category],Partial deletion of the long arm of chromosome 7,"[Partial deletion of chromosome 7q, Partial monosomy of chromosome 7q, Partial monosomy of the long arm of chromosome 7]",,,,,,,,,, +GARD:20828,Active,Orphanet,ORPHA:262065,Group of disorders,[Category],Partial deletion of the long arm of chromosome 8,"[Partial deletion of chromosome 8q, Partial monosomy of chromosome 8q, Partial monosomy of the long arm of chromosome 8]",,,,,,,,,, +GARD:20829,Active,Orphanet,ORPHA:262074,Group of disorders,[Category],Partial monosomy of the long arm of chromosome 9,"[Partial deletion of chromosome 9q, Partial deletion of the long arm of chromosome 9, Partial monosomy of chromosome 9q]",,,,,,,,,, +GARD:2083,Active,Orphanet,ORPHA:536545,Disorder,[Disease],Kyphoscoliotic Ehlers-Danlos syndrome,"[EDS VI, Ehlers-Danlos syndrome type 6, Kyphoscoliotic EDS, kEDS]","A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.",,,,,,Kyphoscoliotic Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20830,Active,Orphanet,ORPHA:262083,Group of disorders,[Category],Partial monosomy of the long arm of chromosome 10,"[Partial deletion of chromosome 10q, Partial deletion of the long arm of chromosome 10, Partial monosomy of chromosome 10q]",,,,,,,,,, +GARD:20831,Active,Orphanet,ORPHA:262092,Group of disorders,[Category],Partial deletion of the long arm of chromosome 11,"[Partial deletion of chromosome 11q, Partial monosomy of chromosome 11q, Partial monosomy of the long arm of chromosome 11]",,,,,,,,,, +GARD:20832,Active,Orphanet,ORPHA:262101,Group of disorders,[Category],Partial deletion of the long arm of chromosome 13,"[Partial deletion of chromosome 13q, Partial monosomy of chromosome 13q, Partial monosomy of the long arm of chromosome 13]",,,,,,,,,, +GARD:20833,Active,Orphanet,ORPHA:262110,Group of disorders,[Category],Partial deletion of the long arm of chromosome 14,"[Partial deletion of chromosome 14q, Partial monosomy of chromosome 14q, Partial monosomy of the long arm of chromosome 14]",,,,,,,,,, +GARD:20834,Active,Orphanet,ORPHA:262119,Group of disorders,[Category],Partial deletion of the long arm of chromosome 15,"[Partial deletion of chromosome 15q, Partial monosomy of chromosome 15q, Partial monosomy of the long arm of chromosome 15]",,,,,,,,,, +GARD:20835,Active,Orphanet,ORPHA:262128,Group of disorders,[Category],Partial deletion of the long arm of chromosome 16,"[Partial deletion of chromosome 16q, Partial monosomy of chromosome 16q, Partial monosomy of the long arm of chromosome 16]",,,,,,,,,, +GARD:20836,Active,Orphanet,ORPHA:262137,Group of disorders,[Category],Partial deletion of the long arm of chromosome 17,"[Partial deletion of chromosome 17q, Partial monosomy of chromosome 17q, Partial monosomy of the long arm of chromosome 17]",,,,,,,,,, +GARD:20837,Active,Orphanet,ORPHA:262146,Group of disorders,[Category],Partial deletion of the long arm of chromosome 18,"[Partial deletion of chromosome 18q, Partial monosomy of chromosome 18q, Partial monosomy of the long arm of chromosome 18]",,,,,,,,,, +GARD:20838,Active,Orphanet,ORPHA:262155,Group of disorders,[Category],Partial deletion of the long arm of chromosome 19,"[Partial deletion of chromosome 19q, Partial monosomy of chromosome 19q, Partial monosomy of the long arm of chromosome 19]",,,,,,,,,, +GARD:20839,Active,Orphanet,ORPHA:262164,Group of disorders,[Category],Partial deletion of the long arm of chromosome 20,"[Partial deletion of chromosome 20q, Partial monosomy of chromosome 20q, Partial monosomy of the long arm of chromosome 20]",,,,,,,,,, +GARD:2084,Active,Orphanet,ORPHA:1899,Disorder,[Disease],Arthrochalasia Ehlers-Danlos syndrome,"[Arthrochalasia EDS, Arthrochalasis multiplex congenita, EDS VII, Ehlers-Danlos syndrome type 7, Ehlers-Danlos syndrome, arthrochalasia type, aEDS]","A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.","[130060, 617821]",,,,,Arthrochalasia Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20840,Active,Orphanet,ORPHA:262173,Group of disorders,[Category],Partial deletion of the long arm of chromosome 21,"[Partial deletion of chromosome 21q, Partial monosomy of chromosome 21q, Partial monosomy of the long arm of chromosome 21]",,,,,,,,,, +GARD:20841,Active,Orphanet,ORPHA:262182,Group of disorders,[Category],Partial deletion of the long arm of chromosome 22,"[Partial deletion of chromosome 22q, Partial monosomy of chromosome 22q, Partial monosomy of the long arm of chromosome 22]",,,,,,,,,, +GARD:20842,Active,Orphanet,ORPHA:262191,Group of disorders,[Category],Partial duplication of chromosome 1,[Partial trisomy of chromosome 1],,,,,,,,,, +GARD:20843,Active,Orphanet,ORPHA:262196,Group of disorders,[Category],Partial duplication of chromosome 2,[Partial trisomy of chromosome 2],,,,,,,,,, +GARD:20844,Active,Orphanet,ORPHA:262201,Group of disorders,[Category],Partial duplication of chromosome 3,[Partial trisomy of chromosome 3],,,,,,,,,, +GARD:20845,Active,Orphanet,ORPHA:262206,Group of disorders,[Category],Partial duplication of chromosome 4,[Partial trisomy of chromosome 4],,,,,,,,,, +GARD:20846,Active,Orphanet,ORPHA:262211,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 5,[Partial duplication/triplication of chromosome 5],,,,,,,,,, +GARD:20847,Active,Orphanet,ORPHA:262628,Group of disorders,[Category],Partial duplication of chromosome 6,[Partial trisomy of chromosome 6],,,,,,,,,, +GARD:20848,Active,Orphanet,ORPHA:262633,Group of disorders,[Category],Partial duplication of chromosome 7,[Partial trisomy of chromosome 7],,,,,,,,,, +GARD:20849,Active,Orphanet,ORPHA:262638,Group of disorders,[Category],Partial duplication of chromosome 8,[Partial trisomy of chromosome 8],,,,,,,,,, +GARD:20850,Active,Orphanet,ORPHA:262643,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 9,[Partial duplication/triplication of chromosome 9],,,,,,,,,, +GARD:20851,Active,Orphanet,ORPHA:262648,Group of disorders,[Category],Partial duplication of chromosome 10,[Partial trisomy of chromosome 10],,,,,,,,,, +GARD:20852,Active,Orphanet,ORPHA:262653,Group of disorders,[Category],Partial duplication of chromosome 11,[Partial trisomy of chromosome 11],,,,,,,,,, +GARD:20853,Active,Orphanet,ORPHA:262658,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 12,"[Partial duplication/triplication of chromosome 12p, Partial duplication/triplication of the short arm of chromosome 12, Partial trisomy/tetrasomy of chromosome 12p]",,,,,,,,,, +GARD:20854,Active,Orphanet,ORPHA:262672,Group of disorders,[Category],Partial duplication of chromosome 16,[Partial trisomy of chromosome 16],,,,,,,,,, +GARD:20855,Active,Orphanet,ORPHA:262677,Group of disorders,[Category],Partial duplication of chromosome 17,[Partial trisomy of chromosome 17],,,,,,,,,, +GARD:20856,Active,Orphanet,ORPHA:262682,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 18,[Partial duplication/triplication of chromosome 18],,,,,,,,,, +GARD:20857,Active,Orphanet,ORPHA:262687,Group of disorders,[Category],Partial duplication of chromosome 19,[Partial trisomy of chromosome 19],,,,,,,,,, +GARD:20858,Active,Orphanet,ORPHA:262692,Group of disorders,[Category],Partial trisomy of chromosome 20,[Partial duplication of chromosome 20],,,,,,,,,, +GARD:20859,Active,Orphanet,ORPHA:262698,Group of disorders,[Category],Partial duplication of the short arm of chromosome 2,"[Partial duplication of chromosome 2p, Partial trisomy of chromosome 2p]",,,,,,,,,, +GARD:20860,Active,Orphanet,ORPHA:262707,Group of disorders,[Category],Partial duplication of the short arm of chromosome 3,"[Partial duplication of chromosome 3p, Partial trisomy of chromosome 3p, Partial trisomy of the short arm of chromosome 3]",,,,,,,,,, +GARD:20861,Active,Orphanet,ORPHA:262716,Group of disorders,[Category],Partial duplication of the short arm of chromosome 4,"[Partial duplication of chromosome 4p, Partial trisomy of chromosome 4p, Partial trisomy of the short arm of chromosome 4]",,,,,,,,,, +GARD:20862,Active,Orphanet,ORPHA:262725,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 5,"[Partial duplication/triplication of chromosome 5p, Partial duplication/triplication of the short arm of chromosome 5, Partial trisomy/tetrasomy of chromosome 5p]",,,,,,,,,, +GARD:20863,Active,Orphanet,ORPHA:262740,Group of disorders,[Category],Partial duplication of the short arm of chromosome 6,"[Partial duplication of chromosome 6p, Partial trisomy of chromosome 6p, Partial trisomy of the short arm of chromosome 6]",,,,,,,,,, +GARD:20864,Active,Orphanet,ORPHA:262749,Group of disorders,[Category],Partial duplication of the short arm of chromosome 7,"[Partial duplication of chromosome 7p, Partial trisomy of chromosome 7p, Partial trisomy of the short arm of chromosome 7]",,,,,,,,,, +GARD:20865,Active,Orphanet,ORPHA:262758,Group of disorders,[Category],Partial duplication of the short arm of chromosome 8,"[Partial duplication of chromosome 8p, Partial trisomy of chromosome 8p, Partial trisomy of the short arm of chromosome 8]",,,,,,,,,, +GARD:20866,Active,Orphanet,ORPHA:262767,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 9,"[Partial duplication of chromosome 9p, Partial duplication of the short arm of chromosome 9, Partial trisomy of chromosome 9p]",,,,,,,,,, +GARD:20867,Active,Orphanet,ORPHA:262776,Group of disorders,[Category],Partial duplication of the short arm of chromosome 10,"[Partial duplication of chromosome 10p, Partial trisomy of chromosome 10p, Partial trisomy of the short arm of chromosome 10]",,,,,,,,,, +GARD:20868,Active,Orphanet,ORPHA:262785,Group of disorders,[Category],Partial duplication of the short arm of chromosome 11,"[Partial duplication of chromosome 11p, Partial trisomy of chromosome 11p, Partial trisomy of the short arm of chromosome 11]",,,,,,,,,, +GARD:20869,Active,Orphanet,ORPHA:262794,Group of disorders,[Category],Partial duplication of the short arm of chromosome 16,"[Partial duplication of chromosome 16p, Partial trisomy of chromosome 16p, Partial trisomy of the short arm of chromosome 16]",,,,,,,,,, +GARD:20870,Active,Orphanet,ORPHA:262803,Group of disorders,[Category],Partial duplication of the short arm of chromosome 17,"[Partial duplication of chromosome 17p, Partial trisomy of chromosome 17p, Partial trisomy of the short arm of chromosome 17]",,,,,,,,,, +GARD:20871,Active,Orphanet,ORPHA:262812,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 18,"[Partial duplication/triplication of chromosome 18p, Partial duplication/triplication of the short arm of chromosome 18, Partial trisomy/tetrasomy of chromosome 18p]",,,,,,,,,, +GARD:20872,Active,Orphanet,ORPHA:262833,Group of disorders,[Category],Partial duplication of the long arm of chromosome 1,"[Partial duplication of chromosome 1q, Partial trisomy of chromosome 1q, Partial trisomy of the long arm of chromosome 1]",,,,,,,,,, +GARD:20873,Active,Orphanet,ORPHA:262842,Group of disorders,[Category],Partial duplication of the long arm of chromosome 2,"[Partial duplication of chromosome 2q, Partial trisomy of chromosome 2q, Partial trisomy of the long arm of chromosome 2]",,,,,,,,,, +GARD:20874,Active,Orphanet,ORPHA:262851,Group of disorders,[Category],Partial duplication of the long arm of chromosome 3,"[Partial duplication of chromosome 3q, Partial trisomy of chromosome 3q]",,,,,,,,,, +GARD:20875,Active,Orphanet,ORPHA:262860,Group of disorders,[Category],Partial duplication of the long arm of chromosome 4,"[Partial duplication of chromosome 4q, Partial trisomy of chromosome 4q, Partial trisomy of the long arm of chromosome 4]",,,,,,,,,, +GARD:20876,Active,Orphanet,ORPHA:262869,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 5,"[Partial duplication of chromosome 5q, Partial duplication of the long arm of chromosome 5, Partial trisomy of chromosome 5q]",,,,,,,,,, +GARD:20877,Active,Orphanet,ORPHA:262878,Group of disorders,[Category],Partial duplication of the long arm of chromosome 6,"[Partial duplication of chromosome 6q, Partial trisomy of chromosome 6q, Partial trisomy of the long arm of chromosome 6]",,,,,,,,,, +GARD:20878,Active,Orphanet,ORPHA:262887,Group of disorders,[Category],Partial duplication of the long arm of chromosome 7,"[Partial duplication of chromosome 7q, Partial trisomy of chromosome 7q, Partial trisomy of the long arm of chromosome 7]",,,,,,,,,, +GARD:20879,Active,Orphanet,ORPHA:262896,Group of disorders,[Category],Partial duplication of the long arm of chromosome 8,"[Partial duplication of chromosome 8q, Partial trisomy of chromosome 8q, Partial trisomy of the long arm of chromosome 8]",,,,,,,,,, +GARD:2088,Active,Orphanet,ORPHA:287,Disorder,[Disease],Classical Ehlers-Danlos syndrome,"[Classical EDS, cEDS]","A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.","[130000, 130010]",,,,,Classical Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20880,Active,Orphanet,ORPHA:262905,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 9,"[Partial duplication of chromosome 9q, Partial duplication of the long arm of chromosome 9, Partial trisomy of chromosome 9q]",,,,,,,,,, +GARD:20881,Active,Orphanet,ORPHA:262914,Group of disorders,[Category],Partial duplication of the long arm of chromosome 10,"[Partial duplication of chromosome 10q, Partial trisomy of chromosome 10q, Partial trisomy of the long arm of chromosome 10]",,,,,,,,,, +GARD:20882,Active,Orphanet,ORPHA:262923,Group of disorders,[Category],Partial duplication of the long arm of chromosome 11,"[Partial duplication of chromosome 11q, Partial trisomy of chromosome 11q, Partial trisomy of the long arm of chromosome 11]",,,,,,,,,, +GARD:20883,Active,Orphanet,ORPHA:262932,Group of disorders,[Category],Partial duplication of the long arm of chromosome 13,"[Partial duplication of chromosome 13q, Partial trisomy of chromosome 13q, Partial trisomy of the long arm of chromosome 13]",,,,,,,,,, +GARD:20884,Active,Orphanet,ORPHA:262941,Group of disorders,[Category],Partial duplication of the long arm of chromosome 14,"[Partial duplication of chromosome 14q, Partial trisomy of chromosome 14q, Partial trisomy of the long arm of chromosome 14]",,,,,,,,,, +GARD:20885,Active,Orphanet,ORPHA:262950,Group of disorders,[Category],Partial duplication of the long arm of chromosome 15,"[Partial duplication of chromosome 15q, Partial trisomy of chromosome 15q, Partial trisomy of the long arm of chromosome 15]",,,,,,,,,, +GARD:20886,Active,Orphanet,ORPHA:262959,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 16,"[Partial duplication of chromosome 16q, Partial duplication of the long arm of chromosome 16, Partial trisomy of chromosome 16q]",,,,,,,,,, +GARD:20887,Active,Orphanet,ORPHA:262968,Group of disorders,[Category],Partial duplication of the long arm of chromosome 17,"[Partial duplication of chromosome 17q, Partial trisomy of chromosome 17q, Partial trisomy of the long arm of chromosome 17]",,,,,,,,,, +GARD:20888,Active,Orphanet,ORPHA:262977,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 18,"[Partial duplication of chromosome 18q, Partial duplication of the long arm of chromosome 18, Partial trisomy of chromosome 18q]",,,,,,,,,, +GARD:20889,Active,Orphanet,ORPHA:262986,Group of disorders,[Category],Partial duplication of the long arm of chromosome 19,"[Partial duplication of chromosome 19q, Partial trisomy of chromosome 19q, Partial trisomy of the long arm of chromosome 19]",,,,,,,,,, +GARD:2089,Active,Orphanet,ORPHA:1901,Disorder,[Disease],Dermatosparaxis Ehlers-Danlos syndrome,"[Dermatosparaxis EDS, Ehlers-Danlos syndrome type 7C, Human dermatosparaxis EDS VIIC, dEDS]","A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.",[225410],,,,,Dermatosparaxis Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20890,Active,Orphanet,ORPHA:262995,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 20,"[Partial duplication of chromosome 20q, Partial duplication of the long arm of chromosome 20, Partial trisomy of chromosome 20q]",,,,,,,,,, +GARD:20891,Active,Orphanet,ORPHA:263004,Group of disorders,[Category],Partial duplication of the long arm of chromosome 22,"[Partial duplication of chromosome 22q, Partial trisomy of chromosome 22q, Partial trisomy of the long arm of chromosome 22]",,,,,,,,,, +GARD:20892,Active,Orphanet,ORPHA:263310,Subtype of disorder,[Histopathological subtype],Thymoma type A,"[Primary thymic epithelial neoplasm type A, Primary thymic epithelial tumor type A]",,,,,,,,,, +GARD:20893,Active,Orphanet,ORPHA:263317,Subtype of disorder,[Histopathological subtype],Thymoma type B,"[Primary thymic epithelial neoplasm type B, Primary thymic epithelial tumor type B]",,,,,,,,,, +GARD:20894,Active,Orphanet,ORPHA:263324,Subtype of disorder,[Histopathological subtype],Thymoma type AB,"[Primary thymic epithelial neoplasm type AB, Primary thymic epithelial tumor type AB]",,,,,,,,,, +GARD:20895,Active,Orphanet,ORPHA:263331,Subtype of disorder,[Histopathological subtype],Well-differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20896,Active,Orphanet,ORPHA:263335,Subtype of disorder,[Histopathological subtype],Moderately-differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20897,Active,Orphanet,ORPHA:263339,Subtype of disorder,[Histopathological subtype],Poorly differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20898,Active,Orphanet,ORPHA:263352,Disorder,[Particular clinical situation in a disease or syndrome],Postcardiotomy right ventricular failure,,,,,,,,,,, +GARD:20899,Active,Orphanet,ORPHA:263410,Disorder,[Disease],Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,,"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.",,,,,,,,, +GARD:20900,Active,Orphanet,ORPHA:263413,Disorder,[Disease],Angiosarcoma,,"A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.",,,,,,,,, +GARD:20901,Active,Orphanet,ORPHA:263425,Disorder,[Disease],Nevus of Ota,[Nevus fusculoceruleus ophthalmomaxillaris],"Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.",,,,,,,,, +GARD:20902,Active,Orphanet,ORPHA:263435,Disorder,[Disease],Congenital smooth muscle hamartoma,,"Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.",,,,,,,,, +GARD:20903,Active,Orphanet,ORPHA:263455,Disorder,[Disease],Hyperinsulinism due to HNF4A deficiency,[Hyperinsulinemic hypoglycemia due to HNF4A deficiency],"Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).",,,,,,,,, +GARD:20904,Active,Orphanet,ORPHA:263558,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type C,"[Generalized deciduous skin type C, Generalized peeling skin syndrome type C]",,,,,,,,,, +GARD:20905,Active,Orphanet,ORPHA:263665,Disorder,[Disease],NK-cell enteropathy,,"Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).",,,,,,,,, +GARD:20906,Active,Orphanet,ORPHA:263708,Group of disorders,[Category],Complex chromosomal rearrangement,,,,,,,,,,, +GARD:20907,Active,Orphanet,ORPHA:263714,Group of disorders,[Category],X chromosome number anomaly,,,,,,,,,,, +GARD:20908,Active,Orphanet,ORPHA:263717,Group of disorders,[Category],X chromosome number anomaly with female phenotype,,,,,,,,,,, +GARD:20909,Active,Orphanet,ORPHA:263720,Group of disorders,[Category],X chromosome number anomaly with male phenotype,,,,,,,,,,, +GARD:20910,Active,Orphanet,ORPHA:263723,Group of disorders,[Category],Polysomy of X chromosome,,,,,,,,,,, +GARD:20911,Active,Orphanet,ORPHA:263726,Group of disorders,[Category],Partial deletion of chromosome X,[Partial monosomy of chromosome X],,,,,,,,,, +GARD:20912,Active,Orphanet,ORPHA:263731,Group of disorders,[Category],Partial monosomy of the short arm of chromosome X,"[Partial deletion of chromosome Xp, Partial deletion of the short arm of chromosome X, Partial monosomy of chromosome Xp]",,,,,,,,,, +GARD:20913,Active,Orphanet,ORPHA:263746,Group of disorders,[Category],Y chromosome number anomaly,,,,,,,,,,, +GARD:20914,Active,Orphanet,ORPHA:263749,Group of disorders,[Category],X and Y chromosomal anomaly,,,,,,,,,,, +GARD:20915,Active,Orphanet,ORPHA:263756,Group of disorders,[Category],Partial deletion of the long arm of chromosome X,"[Partial deletion of chromosome Xq, Partial monosomy of chromosome Xq, Partial monosomy of the long arm of chromosome X]",,,,,,,,,, +GARD:20916,Active,Orphanet,ORPHA:263768,Group of disorders,[Category],Partial duplication of chromosome X,[Partial trisomy of chromosome X],,,,,,,,,, +GARD:20917,Active,Orphanet,ORPHA:263783,Group of disorders,[Category],Partial duplication of the long arm of chromosome X,"[Partial duplication of chromosome Xq, Partial trisomy of chromosome Xq, Partial trisomy of the long arm of chromosome X]",,,,,,,,,, +GARD:20918,Active,Orphanet,ORPHA:263793,Group of disorders,[Category],Uniparental disomy of chromosome X,[UPD(X)],,,,,,,,,, +GARD:20919,Active,Orphanet,ORPHA:264431,Group of disorders,[Category],Partial duplication of the short arm of chromosome 1,"[Partial duplication of chromosome 1p, Partial trisomy of chromosome 1p]",,,,,,,,,, +GARD:2092,Active,Orphanet,ORPHA:1902,Disorder,[Disease],Ehrlichiosis,,"A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).",,,,,,Ehrlichiosis,TRUE,FALSE,Active +GARD:20920,Active,Orphanet,ORPHA:264450,Disorder,[Malformation syndrome],Trisomy 8p,[Duplication 8p],"Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.",,,,,,,,, +GARD:20921,Active,Orphanet,ORPHA:264656,Group of disorders,[Category],Interstitial lung disease specific to childhood,[ILD specific to childhood],,,,,,,,,, +GARD:20922,Active,Orphanet,ORPHA:264670,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to alveolar structure disorder,[Primary ILD specific to childhood due to alveolar structure disorder],,,,,,,,,, +GARD:20923,Active,Orphanet,ORPHA:264683,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to alveolar vascular disorder,[Primary ILD specific to childhood due to alveolar vascular disorder],,,,,,,,,, +GARD:20924,Active,Orphanet,ORPHA:264691,Disorder,[Disease],Isolated pulmonary capillaritis,,"Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.",,,,,,,,, +GARD:20925,Active,Orphanet,ORPHA:264694,Group of disorders,[Category],Interstitial lung disease specific to infancy,[ILD specific to infancy],,,,,,,,,, +GARD:20926,Active,Orphanet,ORPHA:264699,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a systemic disease,[Secondary ILD specific to childhood associated with a systemic disease],,,,,,,,,, +GARD:20927,Active,Orphanet,ORPHA:264704,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a connective tissue disease,[Secondary ILD specific to childhood associated with a connective tissue disease],,,,,,,,,, +GARD:20928,Active,Orphanet,ORPHA:264709,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,[Secondary ILD specific to childhood associated with a systemic vasculitis],,,,,,,,,, +GARD:20929,Active,Orphanet,ORPHA:264714,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a granulomatous disease,[Secondary ILD specific to childhood associated with a granulomatous disease],,,,,,,,,, +GARD:20930,Active,Orphanet,ORPHA:264719,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a metabolic disease,[Secondary ILD specific to childhood associated with a metabolic disease],,,,,,,,,, +GARD:20931,Active,Orphanet,ORPHA:264735,Group of disorders,[Category],Interstitial lung disease specific to adulthood,[ILD specific to adulthood],,,,,,,,,, +GARD:20932,Active,Orphanet,ORPHA:264740,Group of disorders,[Category],Primary interstitial lung disease specific to adulthood,[Primary ILD specific to adulthood],,,,,,,,,, +GARD:20933,Active,Orphanet,ORPHA:264745,Group of disorders,[Category],Secondary interstitial lung disease specific to adulthood associated with a systemic disease,[Secondary ILD specific to adulthood associated with a systemic disease],,,,,,,,,, +GARD:20934,Active,Orphanet,ORPHA:264757,Group of disorders,[Category],Interstitial lung disease in childhood and adulthood,[ILD in childhood and adulthood],,,,,,,,,, +GARD:20935,Active,Orphanet,ORPHA:264762,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood,[Primary ILD in childhood and adulthood],,,,,,,,,, +GARD:20936,Active,Orphanet,ORPHA:264930,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,[Primary ILD in childhood and adulthood due to alveolar structure disorder],,,,,,,,,, +GARD:20937,Active,Orphanet,ORPHA:264935,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,[Primary ILD in childhood and adulthood due to alveolar vascular disorder],,,,,,,,,, +GARD:20938,Active,Orphanet,ORPHA:264944,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood,[Secondary ILD in childhood and adulthood],,,,,,,,,, +GARD:20939,Active,Orphanet,ORPHA:264949,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,[Secondary ILD in childhood and adulthood associated with a systemic disease],,,,,,,,,, +GARD:20940,Active,Orphanet,ORPHA:264968,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,[Secondary ILD in childhood and adulthood associated with a metabolic disease],,,,,,,,,, +GARD:20941,Active,Orphanet,ORPHA:264973,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,[Secondary ILD in childhood and adulthood associated with a systemic vasculitis],,,,,,,,,, +GARD:20942,Active,Orphanet,ORPHA:264978,Disorder,[Particular clinical situation in a disease or syndrome],Drug or radiation exposure-related interstitial lung disease,,,,,,,,,,, +GARD:20943,Active,Orphanet,ORPHA:264984,Group of disorders,[Category],Exposure-related interstitial lung disease,,,,,,,,,,, +GARD:20944,Active,Orphanet,ORPHA:264992,Group of disorders,[Category],Genetic interstitial lung disease,[Genetic ILD],,,,,,,,,, +GARD:20945,Active,Orphanet,ORPHA:268139,Disorder,[Disease],Intraocular medulloepithelioma,[Orbital medulloepithelioma],"Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.",,,,,,,,, +GARD:20946,Active,Orphanet,ORPHA:268249,Disorder,[Malformation syndrome],Mycophenolate mofetil embryopathy,[MMF embryopathy],"Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.",,,,,,,,, +GARD:20947,Active,Orphanet,ORPHA:268261,Subtype of disorder,[Etiological subtype],DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,"[21q22.13q22.2 microdeletion syndrome, Del(21)(q22.13q22.2), Monosomy 21q22.13q22.2]","A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.",,,,,,,,, +GARD:20948,Active,Orphanet,ORPHA:268316,Disorder,[Particular clinical situation in a disease or syndrome],Complication in hemodialysis,,,,,,,,,,, +GARD:20949,Active,Orphanet,ORPHA:268363,Subtype of disorder,[Clinical subtype],Open iniencephaly,,,,,,,,,,, +GARD:20950,Active,Orphanet,ORPHA:268366,Subtype of disorder,[Clinical subtype],Closed iniencephaly,,,,,,,,,,, +GARD:20951,Active,Orphanet,ORPHA:268369,Disorder,[Morphological anomaly],Spina bifida aperta,,"A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.",,,,,,,,, +GARD:20952,Active,Orphanet,ORPHA:268377,Subtype of disorder,[Clinical subtype],Total spina bifida aperta,,,,,,,,,,, +GARD:20953,Active,Orphanet,ORPHA:268384,Subtype of disorder,[Clinical subtype],Thoracolumbosacral spina bifida aperta,,,,,,,,,,, +GARD:20954,Active,Orphanet,ORPHA:268388,Subtype of disorder,[Clinical subtype],Lumbosacral spina bifida aperta,,,,,,,,,,, +GARD:20955,Active,Orphanet,ORPHA:268392,Subtype of disorder,[Clinical subtype],Cervical spina bifida aperta,,,,,,,,,,, +GARD:20956,Active,Orphanet,ORPHA:268397,Subtype of disorder,[Clinical subtype],Cervicothoracic spina bifida aperta,,,,,,,,,,, +GARD:20957,Active,Orphanet,ORPHA:268740,Subtype of disorder,[Clinical subtype],Upper thoracic spina bifida aperta,,,,,,,,,,, +GARD:20958,Active,Orphanet,ORPHA:268744,Group of disorders,[Clinical group],Spina bifida cystica,,,,,,,,,,, +GARD:20959,Active,Orphanet,ORPHA:268748,Subtype of disorder,[Clinical subtype],Total spina bifida cystica,,,,,,,,,,, +GARD:2096,Active,Orphanet,ORPHA:221054,Disorder,[Malformation syndrome],Acrocephalopolydactyly,"[Acrocephalopolydactylous dysplasia, Elejalde syndrome]","An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.",[200995],,,,,Acrocephalopolydactyly,TRUE,FALSE,Active +GARD:20960,Active,Orphanet,ORPHA:268752,Subtype of disorder,[Clinical subtype],Thoracolumbosacral spina bifida cystica,,,,,,,,,,, +GARD:20961,Active,Orphanet,ORPHA:268758,Subtype of disorder,[Clinical subtype],Lumbosacral spina bifida cystica,,,,,,,,,,, +GARD:20962,Active,Orphanet,ORPHA:268762,Subtype of disorder,[Clinical subtype],Cervical spina bifida cystica,,,,,,,,,,, +GARD:20963,Active,Orphanet,ORPHA:268766,Subtype of disorder,[Clinical subtype],Cervicothoracic spina bifida cystica,,,,,,,,,,, +GARD:20964,Active,Orphanet,ORPHA:268770,Subtype of disorder,[Clinical subtype],Upper thoracic spina bifida cystica,,,,,,,,,,, +GARD:20965,Active,Orphanet,ORPHA:268810,Disorder,[Morphological anomaly],Posterior meningocele,,"Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.",,,,,,,,, +GARD:20966,Active,Orphanet,ORPHA:268813,Disorder,[Morphological anomaly],Myelocystocele,,"A rare neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.",,,,,,,,, +GARD:20967,Active,Orphanet,ORPHA:268817,Group of disorders,[Clinical group],Cephalocele,,,,,,,,,,, +GARD:20968,Active,Orphanet,ORPHA:268820,Disorder,[Morphological anomaly],Cranial meningocele,,"A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.",,,,,,,,, +GARD:20969,Active,Orphanet,ORPHA:268823,Subtype of disorder,[Clinical subtype],Occipital encephalocele,,,,,,,,,,, +GARD:20970,Active,Orphanet,ORPHA:268826,Subtype of disorder,[Clinical subtype],Parietal encephalocele,,,,,,,,,,, +GARD:20971,Active,Orphanet,ORPHA:268829,Subtype of disorder,[Clinical subtype],Basal encephalocele,,,,,,,,,,, +GARD:20972,Active,Orphanet,ORPHA:268832,Group of disorders,[Clinical group],Lipoma associated with neurospinal dysraphism,,,,,,,,,,, +GARD:20973,Active,Orphanet,ORPHA:268838,Disorder,[Morphological anomaly],Leptomyelolipoma,,"Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.",,,,,,,,, +GARD:20974,Active,Orphanet,ORPHA:268843,Group of disorders,[Category],"Malformation of the neurenteric canal, spinal cord and column",,,,,,,,,,, +GARD:20975,Active,Orphanet,ORPHA:268865,Disorder,[Morphological anomaly],Neurenteric cyst,,"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.",,,,,,,,, +GARD:20976,Active,Orphanet,ORPHA:268868,Disorder,[Morphological anomaly],Isolated amyelia,,"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.",,,,,,,,, +GARD:20977,Active,Orphanet,ORPHA:268920,Subtype of disorder,[Clinical subtype],Isolated megalencephaly,[Isolated macrencephaly],,,,,,,,,, +GARD:20978,Active,Orphanet,ORPHA:268926,Group of disorders,[Category],Midline cerebral malformation,[Midline brain malformation],,,,,,,,,, +GARD:20979,Active,Orphanet,ORPHA:268936,Disorder,[Morphological anomaly],Isolated arhinencephaly,,Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.,,,,,,,,, +GARD:2098,Active,Orphanet,ORPHA:2516,Disorder,[Malformation syndrome],Microcephaly-cardiac defect-lung malsegmentation syndrome,[Ellis-Yale-Winter syndrome],"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.",[601355],,,,,Ellis Yale Winter syndrome,TRUE,FALSE,Active +GARD:20980,Active,Orphanet,ORPHA:268943,Disorder,[Morphological anomaly],Unilateral polymicrogyria,,Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).,,,,,,,,, +GARD:20981,Active,Orphanet,ORPHA:268947,Subtype of disorder,[Clinical subtype],Unilateral focal polymicrogyria,,"Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.",,,,,,,,, +GARD:20982,Active,Orphanet,ORPHA:268950,Group of disorders,[Clinical group],Cerebral cortical dysplasia,[Brain cortical dysplasia],,,,,,,,,, +GARD:20983,Active,Orphanet,ORPHA:268961,Subtype of disorder,[Clinical subtype],Isolated focal cortical dysplasia type I,[FCD type I],,,,,,,,,, +GARD:20984,Active,Orphanet,ORPHA:268973,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ia,[FCD type Ia],,,,,,,,,, +GARD:20985,Active,Orphanet,ORPHA:268980,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ib,[FCD type Ib],,,,,,,,,, +GARD:20986,Active,Orphanet,ORPHA:268987,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ic,[FCD type Ic],,,,,,,,,, +GARD:20987,Active,Orphanet,ORPHA:269190,Group of disorders,[Clinical group],Encephaloclastic disorder,,,,,,,,,,, +GARD:20988,Active,Orphanet,ORPHA:269194,Group of disorders,[Category],Central nervous system cystic malformation,,,,,,,,,,, +GARD:20989,Active,Orphanet,ORPHA:269197,Disorder,[Morphological anomaly],Glioependymal/ependymal cyst,,"Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).",,,,,,,,, +GARD:2099,Legacy,GARD,,,,,,,,,,,,Emerinopathy,TRUE,FALSE,Active +GARD:20990,Active,Orphanet,ORPHA:269203,Disorder,[Morphological anomaly],Isolated cerebellar vermis agenesis,,"A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.",,,,,,,,, +GARD:20991,Active,Orphanet,ORPHA:269206,Subtype of disorder,[Clinical subtype],Isolated total cerebellar vermis agenesis,,,,,,,,,,, +GARD:20992,Active,Orphanet,ORPHA:269209,Subtype of disorder,[Clinical subtype],Isolated partial cerebellar vermis agenesis,,,,,,,,,,, +GARD:20993,Active,Orphanet,ORPHA:269212,Subtype of disorder,[Clinical subtype],Isolated Dandy-Walker malformation with hydrocephalus,,,,,,,,,,, +GARD:20994,Active,Orphanet,ORPHA:269215,Subtype of disorder,[Clinical subtype],Isolated Dandy-Walker malformation without hydrocephalus,,,,,,,,,,, +GARD:20995,Active,Orphanet,ORPHA:269218,Disorder,[Morphological anomaly],Isolated unilateral hemispheric cerebellar hypoplasia,,"Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.",,,,,,,,, +GARD:20996,Active,Orphanet,ORPHA:269221,Disorder,[Morphological anomaly],Isolated bilateral hemispheric cerebellar hypoplasia,,"Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.",,,,,,,,, +GARD:20997,Active,Orphanet,ORPHA:269224,Group of disorders,[Category],Global cerebellar malformation,[Diffuse cerebellar malformation],,,,,,,,,, +GARD:20998,Active,Orphanet,ORPHA:269505,Subtype of disorder,[Clinical subtype],Congenital communicating hydrocephalus,[Congenital non-obstructive hydrocephalus],,,,,,,,,, +GARD:20999,Active,Orphanet,ORPHA:269523,Group of disorders,[Category],Syndrome with a cerebellar malformation as a major feature,,,,,,,,,,, +GARD:210,Legacy,GARD,,,,,,,,,,,,Ruzicka Goerz Anton syndrome,TRUE,FALSE,Active +GARD:21000,Active,Orphanet,ORPHA:269528,Group of disorders,[Category],Syndrome with microcephaly as a major feature,,,,,,,,,,, +GARD:21001,Active,Orphanet,ORPHA:269531,Group of disorders,[Category],Other syndrome with a central nervous system malformation as a major feature,,,,,,,,,,, +GARD:21002,Active,Orphanet,ORPHA:269546,Group of disorders,[Category],Syndrome with a Dandy-Walker malformation as a major feature,,,,,,,,,,, +GARD:21003,Active,Orphanet,ORPHA:269550,Group of disorders,[Category],Genetic non-syndromic central nervous system malformation,,,,,,,,,,, +GARD:21004,Active,Orphanet,ORPHA:269553,Group of disorders,[Category],Genetic cerebral malformation,[Genetic brain malformation],,,,,,,,,, +GARD:21005,Active,Orphanet,ORPHA:269557,Group of disorders,[Category],Genetic posterior fossa malformation,,,,,,,,,,, +GARD:21006,Active,Orphanet,ORPHA:269560,Group of disorders,[Category],Genetic cerebellar malformation,,,,,,,,,,, +GARD:21007,Active,Orphanet,ORPHA:269564,Group of disorders,[Category],Genetic syndrome with a central nervous system malformation as a major feature,[Genetic syndrome with a CNS malformation as major feature],,,,,,,,,, +GARD:21008,Active,Orphanet,ORPHA:269567,Group of disorders,[Category],Genetic syndrome with a cerebellar malformation as a major feature,,,,,,,,,,, +GARD:21009,Active,Orphanet,ORPHA:269570,Group of disorders,[Category],Genetic syndrome with a Dandy-Walker malformation as a major feature,,,,,,,,,,, +GARD:2101,Legacy,GARD,,,,,,,,,,,,"Emery-Dreifuss muscular dystrophy, dominant type",TRUE,FALSE,Retired +GARD:21010,Active,Orphanet,ORPHA:269573,Group of disorders,[Category],Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature,,,,,,,,,,, +GARD:21011,Active,Orphanet,ORPHA:271832,Group of disorders,[Category],Genetic soft tissue tumor,[Genetic mesenchymal tumor],,,,,,,,,, +GARD:21012,Active,Orphanet,ORPHA:271835,Group of disorders,[Category],Genetic digestive tract tumor,,,,,,,,,,, +GARD:21013,Active,Orphanet,ORPHA:271841,Group of disorders,[Category],Genetic cardiac tumor,,,,,,,,,,, +GARD:21014,Active,Orphanet,ORPHA:271844,Group of disorders,[Category],Genetic urogenital tumor,,,,,,,,,,, +GARD:21015,Active,Orphanet,ORPHA:271847,Group of disorders,[Category],Genetic neuroendocrine tumor,,,,,,,,,,, +GARD:21016,Active,Orphanet,ORPHA:271853,Group of disorders,[Category],Genetic cardiac anomaly,,,,,,,,,,, +GARD:21017,Active,Orphanet,ORPHA:271861,Group of disorders,[Clinical group],Hereditary ATTR amyloidosis,"[Familial TTR-related amyloidosis, Familial transthyretin-related amyloidosis]",,,,,,,,,, +GARD:21018,Active,Orphanet,ORPHA:271870,Group of disorders,[Category],Rare genetic systemic or rheumatologic disease,,,,,,,,,,, +GARD:21019,Active,Orphanet,ORPHA:275729,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional thrombocytopenia,"[Rare bleeding disorder due to a constitutional thrombocytopenia, Rare bleeding disorder due to a quantitative platelet defect, Rare coagulopathy due to a constitutional thrombocytopenia, Rare coagulopathy due to a quantitative platelet defect, Rare hemorrhagic disorder due to a quantitative platelet defect]",,,,,,,,,, +GARD:2102,Active,Orphanet,ORPHA:98863,Subtype of disorder,[Etiological subtype],X-linked Emery-Dreifuss muscular dystrophy,,,"[310300, 300696]",,,,,"Emery-Dreifuss muscular dystrophy, X-linked",TRUE,FALSE,Retired +GARD:21020,Active,Orphanet,ORPHA:275736,Group of disorders,[Category],Rare hemorrhagic disorder due to a qualitative platelet defect,"[Rare bleeding disorder due to a constitutional thrombopathy, Rare bleeding disorder due to a qualitative platelet defect, Rare coagulopathy due to a constitutional thrombopathy, Rare coagulopathy due to a qualitative platelet defect, Rare hemorrhagic disorder due to a constitutional thrombopathy]",,,,,,,,,, +GARD:21021,Active,Orphanet,ORPHA:275742,Group of disorders,[Category],Genetic infertility,,,,,,,,,,, +GARD:21022,Active,Orphanet,ORPHA:275745,Group of disorders,[Category],Alpha-thalassemia and related disorders,,,,,,,,,,, +GARD:21023,Active,Orphanet,ORPHA:275749,Group of disorders,[Category],Beta-thalassemia and related diseases,,,,,,,,,,, +GARD:21024,Active,Orphanet,ORPHA:275752,Group of disorders,[Category],Sickle cell disease and related diseases,,,,,,,,,,, +GARD:21025,Active,Orphanet,ORPHA:275766,Subtype of disorder,[Etiological subtype],Idiopathic pulmonary arterial hypertension,"[IPAH, Primary pulmonary arterial hypertension]","Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.",,,,,,,,, +GARD:21026,Active,Orphanet,ORPHA:275786,Group of disorders,[Clinical group],Drug- or toxin-induced pulmonary arterial hypertension,[Drug- or toxin-induced PAH],"Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.",,,,,,,,, +GARD:21027,Active,Orphanet,ORPHA:275791,Group of disorders,[Category],Pulmonary arterial hypertension associated with another disease,"[PAH associated with another disease, Secondary PAH]","Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.",,,,,,,,, +GARD:21028,Active,Orphanet,ORPHA:275798,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with connective tissue disease,[PAH associated with connective tissue disease],A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.,,,,,,,,, +GARD:21029,Active,Orphanet,ORPHA:275803,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with congenital heart disease,[PAH associated with congenital heart disease],"Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.",,,,,,,,, +GARD:21030,Active,Orphanet,ORPHA:275808,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with HIV infection,[PAH associated with HIV infaction],A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.,,,,,,,,, +GARD:21031,Active,Orphanet,ORPHA:275813,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with portal hypertension,"[PAH associated with portal hypertension, POPH, Portopulmonary hypertension]","Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.",,,,,,,,, +GARD:21032,Active,Orphanet,ORPHA:275823,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with schistosomiasis,[PAH associated with schistosomiasis],"Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).",,,,,,,,, +GARD:21033,Active,Orphanet,ORPHA:275828,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with chronic hemolytic anemia,[PAH associated with chronic hemolytic anemia],Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.,,,,,,,,, +GARD:21034,Active,Orphanet,ORPHA:275837,Group of disorders,[Clinical group],Pulmonary hypertension owing to lung disease and/or hypoxia,"[PH due to lung disease and/or hypoxia, PH owing to lung disease and/or hypoxia, Pulmonary hypertension due to lung disease and/or hypoxia]",,,,,,,,,, +GARD:21035,Active,Orphanet,ORPHA:275844,Group of disorders,[Clinical group],Pulmonary hypertension with unclear multifactorial mechanism,[PH with unclear multifactorial mechanism],,,,,,,,,, +GARD:21036,Active,Orphanet,ORPHA:275853,Group of disorders,[Category],Syndrome with pulmonary hypertension as a major feature,,,,,,,,,,, +GARD:21037,Active,Orphanet,ORPHA:275938,Group of disorders,[Category],Hemolytic disease due to fetomaternal alloimmunization,"[HDFN, Hemolytic disease of the fetus and newborn]",,,,,,,,,, +GARD:21038,Active,Orphanet,ORPHA:275944,Disorder,[Disease],Hemolytic disease of the newborn with Kell alloimmunization,"[Anti-K HDN, Maternal anti-Kell alloimmunization]","A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.",,,,,,,,, +GARD:21039,Active,Orphanet,ORPHA:276058,Group of disorders,[Category],Genetic neurodegenerative disease with dementia,,,,,,,,,,, +GARD:2104,Active,Orphanet,ORPHA:1928,Disorder,[Morphological anomaly],Congenital lobar emphysema,"[Congenital lobar hyperinflation, Infantile lobar hyperinflation]",A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.,[130710],,,,,Congenital lobar emphysema,TRUE,FALSE,Active +GARD:21040,Active,Orphanet,ORPHA:276061,Group of disorders,[Category],Genetic frontotemporal degeneration with dementia,,,,,,,,,,, +GARD:21041,Active,Orphanet,ORPHA:276066,Disorder,[Disease],Bile acid CoA ligase deficiency and defective amidation,,"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.",,,,,,,,, +GARD:21042,Active,Orphanet,ORPHA:276142,Group of disorders,[Category],Rare tumor of salivary glands,,,,,,,,,,, +GARD:21043,Active,Orphanet,ORPHA:276145,Disorder,[Disease],Malignant epithelial tumor of salivary glands,,"Malignant epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.",,,,,,,,, +GARD:21044,Active,Orphanet,ORPHA:276161,Group of disorders,[Clinical group],Multiple endocrine neoplasia,[MEN],"Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.",,,,,,,,, +GARD:21045,Active,Orphanet,ORPHA:276174,Disorder,[Disease],Idiopathic recurrent stupor,,"A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.",,,,,,,,, +GARD:21046,Active,Orphanet,ORPHA:276212,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 6, rapidly progressing","[Arylsulfatase B deficiency, rapidly progressing, MPS6, rapidly progressing, MPSVI, rapidly progressing, Mucopolysaccharidosis type VI, rapidly progressing]",,,,,,,,,, +GARD:21047,Active,Orphanet,ORPHA:276223,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 6, slowly progressing","[Arylsulfatase B deficiency, slowly progressing, MPS6, slowly progressing, MPSVI, slowly progressing, Mucopolysaccharidosis type VI, slowly progressing]",,,,,,,,,, +GARD:21048,Active,Orphanet,ORPHA:276238,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 1,"[SCA3, Joseph type, Spinocerebellar ataxia type 3, Joseph type]","Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.",,,,,,,,, +GARD:21049,Active,Orphanet,ORPHA:276241,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 2,"[SCA3, Thomas type, Spinocerebellar ataxia, Thomas type]","Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.",,,,,,,,, +GARD:21050,Active,Orphanet,ORPHA:276244,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 3,"[SCA3, Machado type, Spinocerebellar ataxia type 3, Machado type]","Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.",,,,,,,,, +GARD:21051,Active,Orphanet,ORPHA:276280,Disorder,[Malformation syndrome],Hemihyperplasia-multiple lipomatosis syndrome,[HHML],"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.",,,,,,,,, +GARD:21052,Active,Orphanet,ORPHA:276422,Disorder,[Malformation syndrome],10q22.3q23.3 microduplication syndrome,"[Dup(10)(q22.3q23.3), Trisomy 10q22.3q23.3]","10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.",,,,,,,,, +GARD:21053,Active,Orphanet,ORPHA:276525,Group of disorders,[Category],Familial hyperinsulinism,"[FHI, Familial hyperinsulinemic hypoglycemia]",,,,,,,,,, +GARD:21054,Active,Orphanet,ORPHA:276556,Disorder,[Disease],Hyperinsulinism due to UCP2 deficiency,[Hyperinsulinemic hypoglycemia due to UCP2 deficiency],"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.",,,,,,,,, +GARD:21055,Active,Orphanet,ORPHA:276585,Group of disorders,[Clinical group],Diazoxide-resistant hyperinsulinism,[Diazoxide-resistant hyperinsulinemic hypoglycemia],"A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.",,,,,,,,, +GARD:21056,Active,Orphanet,ORPHA:276608,Disorder,[Disease],Non-insulinoma pancreatogenous hypoglycemia syndrome,[NIPHS],,,,,,,,,, +GARD:21057,Active,Orphanet,ORPHA:276630,Disorder,[Malformation syndrome],Symptomatic form of Coffin-Lowry syndrome in female carriers,,"A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.",,,,,,,,, +GARD:21058,Active,Orphanet,ORPHA:279882,Disorder,[Clinical syndrome],Spasmus nutans,,"Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.",,,,,,,,, +GARD:21059,Active,Orphanet,ORPHA:279888,Subtype of disorder,[Clinical subtype],Acute endophthalmitis,,,,,,,,,,, +GARD:2106,Legacy,GARD,,,,,,,,,,,,Enamel hypoplasia cataract hydrocephaly,TRUE,FALSE,Active +GARD:21060,Active,Orphanet,ORPHA:279891,Subtype of disorder,[Clinical subtype],Chronic endophthalmitis,,,,,,,,,,, +GARD:21061,Active,Orphanet,ORPHA:279894,Disorder,[Disease],Toxic maculopathy due to antimalarial drugs,,"Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.",,,,,,,,, +GARD:21062,Active,Orphanet,ORPHA:279897,Disorder,[Disease],Primary oculocerebral lymphoma,[Primary oculocerebral non-Hodgkin lymphoma],"Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.",,,,,,,,, +GARD:21063,Active,Orphanet,ORPHA:279904,Disorder,[Disease],Primary intraocular lymphoma,"[PIOL, Primary intraocular non-Hodgkin lymphoma]",,,,,,,,,, +GARD:21064,Active,Orphanet,ORPHA:279911,Group of disorders,[Category],Primary organ-specific lymphoma,,,,,,,,,,, +GARD:21065,Active,Orphanet,ORPHA:279914,Disorder,[Disease],Intermediate uveitis,[IU],"A rare ophthalmic disorder characterized by intraocular inflammation primarily localized to the vitreous and peripheral retina. It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia. On examination, snow banking, vitreous snowballs, peripheral retinal vascular sheathing, vitreous cells, and vitreous haze can be seen. Complications include epiretinal membrane formation, cataract formation, cystoid macular edema, or band keratopathy, among others. The condition may be idiopathic or occur in the context of infectious or systemic diseases.",,,,,,,,, +GARD:21066,Active,Orphanet,ORPHA:279919,Disorder,[Disease],Infectious posterior uveitis,,"A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection, keratic precipitates, retrolental cells, inflammatory infiltrates on the retina, macular edema, and peripheral retinal neovascularization, among others. Complications (such as cataracts, band keratopathy, glaucoma, cystoid macula edema, and retinal detachment) may lead to permanent vision loss.",,,,,,,,, +GARD:21067,Active,Orphanet,ORPHA:279922,Disorder,[Disease],Infectious anterior uveitis,,"A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others.",,,,,,,,, +GARD:21068,Active,Orphanet,ORPHA:279925,Disorder,[Disease],Infectious panuveitis,,"A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms include pain, photophobia, redness, blurring of vision, and floaters. Signs on examination are lid edema, ciliary injection, chemosis, keratic precipitates, cells in the anterior chamber, hypopyon, iris nodules and neovascularization, posterior synechiae, macular edema, vitreous and retinal hemorrhage, and retinal detachment, among others. Complications may result in visual loss.",,,,,,,,, +GARD:21069,Active,Orphanet,ORPHA:279928,Disorder,[Disease],Paraneoplastic uveitis,,,,,,,,,,, +GARD:21070,Active,Orphanet,ORPHA:280065,Subtype of disorder,[Clinical subtype],Calciphylaxis cutis,,"A rare, life-threatening, non-inflammatory vasculopathy characterized clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.",,,,,,,,, +GARD:21071,Active,Orphanet,ORPHA:280068,Subtype of disorder,[Clinical subtype],Visceral calciphylaxis,,"A rare, life-threatening, non-inflammatory vasculopathy characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.",,,,,,,,, +GARD:21072,Active,Orphanet,ORPHA:280205,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 0,"[LTEC0, Laryngo-tracheo-esophageal cleft type 0]",Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.,,,,,,,,, +GARD:21073,Active,Orphanet,ORPHA:280219,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, classic form",[Classic PMD],The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.,,,,,,,,, +GARD:21074,Active,Orphanet,ORPHA:280224,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, transitional form",[Transitional PMD],The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).,,,,,,,,, +GARD:21075,Active,Orphanet,ORPHA:280229,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher disease in female carriers,,Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the PLP1 gene (Xq22).,,,,,,,,, +GARD:21076,Active,Orphanet,ORPHA:280302,Subtype of disorder,[Clinical subtype],Autoimmune pancreatitis type 1,"[AIP type 1, IgG4-related pancreatitis, Lymphoplasmacytic sclerosing pancreatitis]","Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.",,,,,,,,, +GARD:21077,Active,Orphanet,ORPHA:280315,Disorder,[Disease],Autoimmune pancreatitis type 2,"[AIP type 2, Duct-centric pancreatitis]","Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.",,,,,,,,, +GARD:21078,Active,Orphanet,ORPHA:280325,Disorder,[Malformation syndrome],Distal monosomy 12p,"[12p13.33 microdeletion syndrome, Del(12)(p13.33), Distal deletion 12p]","A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.",,,,,,,,, +GARD:21079,Active,Orphanet,ORPHA:280342,Group of disorders,[Category],Rare systemic or rheumatological disease of childhood,,,,,,,,,,, +GARD:2108,Active,Orphanet,ORPHA:2396,Disorder,[Disease],Encephalocraniocutaneous lipomatosis,[Haberland syndrome],"A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.",[613001],,,,,Encephalocraniocutaneous lipomatosis,TRUE,FALSE,Active +GARD:21080,Active,Orphanet,ORPHA:280365,Disorder,[Disease],Autosomal semi-dominant severe lipodystrophic laminopathy,,"A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.",,,,,,,,, +GARD:21081,Active,Orphanet,ORPHA:280369,Group of disorders,[Category],Rare pediatric vasculitis,,,,,,,,,,, +GARD:21082,Active,Orphanet,ORPHA:280373,Group of disorders,[Category],Rare pediatric systemic disease,,,,,,,,,,, +GARD:21083,Active,Orphanet,ORPHA:280384,Disorder,[Disease],Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,[IDMDC],"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.",,,,,,,,, +GARD:21084,Active,Orphanet,ORPHA:280397,Disorder,[Disease],Familial Alzheimer-like prion disease,,"Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.",,,,,,,,, +GARD:21085,Active,Orphanet,ORPHA:280400,Group of disorders,[Category],Inherited human prion disease,"[Familial prion disease, Genetic human prion disease]",,,,,,,,,, +GARD:21086,Active,Orphanet,ORPHA:280403,Disorder,[Malformation syndrome],Familial omphalocele syndrome with facial dysmorphism,,"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.",,,,,,,,, +GARD:21087,Active,Orphanet,ORPHA:280774,Disorder,[Disease],Generalized essential telangiectasia,[GET],"A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.",,,,,,,,, +GARD:21088,Active,Orphanet,ORPHA:280785,Subtype of disorder,[Clinical subtype],Bullous diffuse cutaneous mastocytosis,[Bullous DCM],Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.,,,,,,,,, +GARD:21089,Active,Orphanet,ORPHA:280794,Subtype of disorder,[Clinical subtype],Pseudoxanthomatous diffuse cutaneous mastocytosis,"[Infiltrative small vesicular DCM, Infiltrative small vesicular diffuse cutaneous mastocytosis, Pseudoxanthomatous DCM]",Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.,,,,,,,,, +GARD:2109,Legacy,GARD,,,,,,,,,,,,Encephalocele anencephaly,TRUE,FALSE,Active +GARD:21090,Active,Orphanet,ORPHA:280802,Subtype of disorder,[Clinical subtype],Intralobar congenital pulmonary sequestration,"[Congenital intrapulmonary sequestration, Intralobar congenital bronchopulmonary sequestration]",,,,,,,,,, +GARD:21091,Active,Orphanet,ORPHA:280811,Subtype of disorder,[Clinical subtype],Extralobar congenital pulmonary sequestration,"[Congenital extrapulmonary sequestration, Extralobar congenital bronchopulmonary sequestration]",,,,,,,,,, +GARD:21092,Active,Orphanet,ORPHA:280821,Subtype of disorder,[Clinical subtype],Communicating congenital bronchopulmonary-foregut malformation,,,,,,,,,,, +GARD:21093,Active,Orphanet,ORPHA:280827,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 0,"[CPAM type 0, Congenital cystic adenomatoid malformation of the lung type 0, Congenital cystic adenomatous malformation of the lung type 0]","A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.",,,,,,,,, +GARD:21094,Active,Orphanet,ORPHA:280832,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 1,"[CCAM type 1, CPAM type 1, Congenital cystic adenomatoid malformation of the lung type 1, Congenital cystic adenomatous malformation of the lung type 1, Congenital cystic disease of the lung type 1]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.",,,,,,,,, +GARD:21095,Active,Orphanet,ORPHA:280840,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 2,"[CCAM type 2, CPAM type 2, Congenital cystic adenomatoid malformation of the lung type 2, Congenital cystic adenomatous malformation of the lung type 2, Congenital cystic disease of the lung type 2]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities.",,,,,,,,, +GARD:21096,Active,Orphanet,ORPHA:280847,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 3,"[CCAM type 3, CPAM type 3, Congenital cystic adenomatoid malformation of the lung type 3, Congenital cystic adenomatous malformation of the lung type 3, Congenital cystic disease of the lung type 3]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period.",,,,,,,,, +GARD:21097,Active,Orphanet,ORPHA:280854,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 4,"[CPAM type 4, Congenital cystic adenomatoid malformation of the lung type 4, Congenital cystic adenomatous malformation of the lung type 4]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.",,,,,,,,, +GARD:21098,Active,Orphanet,ORPHA:280914,Disorder,[Disease],Idiopathic anterior uveitis,,"A rare ophthalmic disorder characterized by intraocular inflammation with the anterior chamber as the predominant site of inflammation, without any identifiable etiology. Presenting symptoms are pain, redness, photophobia, and sometimes blurred vision. Signs on examination include anterior chamber cell and flare, limbal vascular injection, and keratic precipitates, among others.",,,,,,,,, +GARD:21099,Active,Orphanet,ORPHA:280917,Disorder,[Disease],Idiopathic posterior uveitis,,"Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.",,,,,,,,, +GARD:211,Legacy,GARD,,,,,,,,,,,,Smith-Lemli-Opitz syndrome type 2,FALSE,FALSE,Retired +GARD:21100,Active,Orphanet,ORPHA:280921,Disorder,[Disease],Idiopathic panuveitis,,"Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.",,,,,,,,, +GARD:21101,Active,Orphanet,ORPHA:280926,Group of disorders,[Category],Systemic diseases with anterior uveitis,,,,,,,,,,, +GARD:21102,Active,Orphanet,ORPHA:280930,Group of disorders,[Category],Systemic diseases with posterior uveitis,,,,,,,,,,, +GARD:21103,Active,Orphanet,ORPHA:280933,Group of disorders,[Category],Systemic diseases with panuveitis,,,,,,,,,,, +GARD:21104,Active,Orphanet,ORPHA:281082,Group of disorders,[Category],Inherited non-syndromic ichthyosis,,,,,,,,,,, +GARD:21105,Active,Orphanet,ORPHA:281085,Group of disorders,[Category],Inherited ichthyosis syndromic form,,,,,,,,,,, +GARD:21106,Active,Orphanet,ORPHA:281097,Group of disorders,[Clinical group],Autosomal recessive congenital ichthyosis,[ARCI],,,,,,,,,, +GARD:21107,Active,Orphanet,ORPHA:281103,Group of disorders,[Clinical group],Keratinopathic ichthyosis,[KPI],"A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a KRT1 mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. KRT2 mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.",,,,,,,,, +GARD:21108,Active,Orphanet,ORPHA:281127,Disorder,[Disease],Acral self-healing collodion baby,[Acral SHCB],A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.,,,,,,,,, +GARD:21109,Active,Orphanet,ORPHA:281210,Group of disorders,[Clinical group],X-linked ichthyosis syndrome,,,,,,,,,,, +GARD:21110,Active,Orphanet,ORPHA:281217,Group of disorders,[Category],Autosomal ichthyosis syndrome,,,,,,,,,,, +GARD:21111,Active,Orphanet,ORPHA:281222,Group of disorders,[Category],Autosomal ichthyosis syndrome with prominent hair abnormalities,,,,,,,,,,, +GARD:21112,Active,Orphanet,ORPHA:281238,Group of disorders,[Category],Autosomal ichthyosis syndrome with prominent neurologic signs,,,,,,,,,,, +GARD:21113,Active,Orphanet,ORPHA:281241,Group of disorders,[Category],Autosomal ichthyosis syndrome with fatal disease course,,,,,,,,,,, +GARD:21114,Active,Orphanet,ORPHA:281244,Group of disorders,[Category],Autosomal ichthyosis syndrome with other associated signs,,,,,,,,,,, +GARD:21115,Active,Orphanet,ORPHA:282124,Group of disorders,[Category],Partial deletion of chromosome 12,[Partial monosomy of chromosome 12],,,,,,,,,, +GARD:21116,Active,Orphanet,ORPHA:282196,Group of disorders,[Clinical group],Autoimmune polyendocrinopathy,"[APS, Autoimmune polyglandular syndrome]","A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.",,,,,,,,, +GARD:21117,Active,Orphanet,ORPHA:284180,Disorder,[Malformation syndrome],Xp22.13p22.2 duplication syndrome,"[Dup(X)(p22), Dup(X)(p22.13p22.2), Duplication Xp22]","Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.",,,,,,,,, +GARD:21118,Active,Orphanet,ORPHA:284362,Subtype of disorder,[Clinical subtype],Fetal lung interstitial tumor,"[FLIT, Immature interstitial mesenchymal tumor]",,,,,,,,,, +GARD:21119,Active,Orphanet,ORPHA:284385,Group of disorders,[Category],Familial intrahepatic cholestasis,,,,,,,,,,, +GARD:21120,Active,Orphanet,ORPHA:284395,Disorder,[Disease],Well-differentiated fetal adenocarcinoma of the lung,[WDFA],"Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.",,,,,,,,, +GARD:21121,Active,Orphanet,ORPHA:284460,Disorder,[Disease],Acute annular outer retinopathy,[AAOR],"A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.",,,,,,,,, +GARD:21122,Active,Orphanet,ORPHA:284786,Group of disorders,[Category],Qualitative or quantitative defects of troponin,,,,,,,,,,, +GARD:21123,Active,Orphanet,ORPHA:284790,Group of disorders,[Category],Qualitative or quantitative defects of tropomyosin,,,,,,,,,,, +GARD:21124,Active,Orphanet,ORPHA:284804,Group of disorders,[Clinical group],Ocular albinism,,,,,,,,,,, +GARD:21125,Active,Orphanet,ORPHA:284811,Group of disorders,[Category],Syndromic oculocutaneous albinism,,,,,,,,,,, +GARD:21126,Active,Orphanet,ORPHA:284814,Group of disorders,[Category],Disorder of phenylalanine metabolism,,,,,,,,,,, +GARD:21127,Active,Orphanet,ORPHA:284818,Group of disorders,[Category],Disorder of tyrosine metabolism,,,,,,,,,,, +GARD:21128,Active,Orphanet,ORPHA:284979,Disorder,[Disease],Neonatal Marfan syndrome,[Neonatal MFS],"Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.",,,,,,,,, +GARD:21129,Active,Orphanet,ORPHA:284993,Group of disorders,[Category],Marfan syndrome and Marfan-related disorders,,,,,,,,,,, +GARD:2113,Active,Orphanet,ORPHA:1261,Disorder,[Malformation syndrome],Bonnemann-Meinecke-Reich syndrome,[Encephalopathy-intracerebral calcification-retinal degeneration syndrome],"Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.",[225755],,,,,Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration,TRUE,FALSE,Active +GARD:21130,Active,Orphanet,ORPHA:285014,Group of disorders,[Category],Rare disease with thoracic aortic aneurysm and aortic dissection,,,,,,,,,,, +GARD:21131,Active,Orphanet,ORPHA:285657,Group of disorders,[Category],Disorder of folate metabolism and transport,,,,,,,,,,, +GARD:21132,Active,Orphanet,ORPHA:289098,Group of disorders,[Category],Disorders of vitamin D metabolism,,,,,,,,,,, +GARD:21133,Active,Orphanet,ORPHA:289103,Group of disorders,[Clinical group],Hypocalcemic rickets,,"A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.",,,,,,,,, +GARD:21134,Active,Orphanet,ORPHA:289266,Disorder,[Disease],Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.",,,,,,,,, +GARD:21135,Active,Orphanet,ORPHA:289347,Disorder,[Disease],Infective dermatitis associated with HTLV-1,"[IDH, Infective dermatitis associated with human T-lymphotropic virus type 1, Infective dermatitis associated with human T-lymphotropic virus type I]","Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).",,,,,,,,, +GARD:21136,Active,Orphanet,ORPHA:289356,Disorder,[Disease],Primary non-gestational choriocarcinoma of ovary,"[NGCO, Primary non-gestational ovarian choriocarcinoma]","Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.",,,,,,,,, +GARD:21137,Active,Orphanet,ORPHA:289362,Subtype of disorder,[Clinical subtype],Non-central nervous system-localized embryonal carcinoma,[Non-CNS-localized embryonal carcinoma],,,,,,,,,, +GARD:21138,Active,Orphanet,ORPHA:289385,Disorder,[Particular clinical situation in a disease or syndrome],Malignancy diagnosed during pregnancy,[Cancer diagnosed during pregnancy],,,,,,,,,, +GARD:21139,Active,Orphanet,ORPHA:289478,Disorder,[Disease],Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,[PASH syndrome],"A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.",,,,,,,,, +GARD:21140,Active,Orphanet,ORPHA:289494,Disorder,[Disease],4H leukodystrophy,[POLR-related leukodystrophy],"A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.",,,,,,,,, +GARD:21141,Active,Orphanet,ORPHA:289513,Disorder,[Malformation syndrome],12q15q21.1 microdeletion syndrome,"[Del(12)(q15)(q21.1), Deletion 12q15q21.1, Monosomy 12q15q21.1]","12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.",,,,,,,,, +GARD:21142,Active,Orphanet,ORPHA:289522,Disorder,[Malformation syndrome],Microtriplication 11q24.1,[Tetrasomy 11q24.1],"Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.",,,,,,,,, +GARD:21143,Active,Orphanet,ORPHA:289548,Disorder,[Disease],Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,,"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.",,,,,,,,, +GARD:21144,Active,Orphanet,ORPHA:289596,Disorder,[Disease],Juvenile nasopharyngeal angiofibroma,[JNA],"Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.",,,,,,,,, +GARD:21145,Active,Orphanet,ORPHA:289635,Group of disorders,[Category],Rare virus associated tumor,,,,,,,,,,, +GARD:21146,Active,Orphanet,ORPHA:289638,Group of disorders,[Category],Epstein-Barr Virus-related tumor,[EBV-related tumor],,,,,,,,,, +GARD:21147,Active,Orphanet,ORPHA:289644,Group of disorders,[Category],Epstein-Barr virus-associated malignant lymphoproliferative disorder,[EBV-associated lymphoproliferative disorder],,,,,,,,,, +GARD:21148,Active,Orphanet,ORPHA:289651,Group of disorders,[Category],Epstein-Barr Virus-associated carcinoma,[EBV-associated carcinoma],,,,,,,,,, +GARD:21149,Active,Orphanet,ORPHA:289656,Group of disorders,[Category],Epstein-Barr Virus-associated mesenchymal tumor,[EBV-associated mesenchymal tumor],,,,,,,,,, +GARD:21150,Active,Orphanet,ORPHA:289661,Disorder,[Disease],Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly,[EBV-positive DLBCL of the elderly],"Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.",,,,,,,,, +GARD:21151,Active,Orphanet,ORPHA:289682,Disorder,[Disease],Lymphoepithelial-like carcinoma,,"Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.",,,,,,,,, +GARD:21152,Active,Orphanet,ORPHA:289685,Disorder,[Disease],Myopericytoma,,"A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.",,,,,,,,, +GARD:21153,Active,Orphanet,ORPHA:289825,Group of disorders,[Clinical group],Late-onset primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:21154,Active,Orphanet,ORPHA:289829,Group of disorders,[Category],Disorder of tryptophan metabolism,,,,,,,,,,, +GARD:21155,Active,Orphanet,ORPHA:289832,Group of disorders,[Category],Disorder of lysine and hydroxylysine metabolism,,,,,,,,,,, +GARD:21156,Active,Orphanet,ORPHA:289841,Group of disorders,[Category],Disorder of glutamine metabolism,,,,,,,,,,, +GARD:21157,Active,Orphanet,ORPHA:289866,Group of disorders,[Category],Disorder of proline metabolism,,,,,,,,,,, +GARD:21158,Active,Orphanet,ORPHA:289869,Group of disorders,[Category],Disorder of ornithine metabolism,,,,,,,,,,, +GARD:21159,Active,Orphanet,ORPHA:289877,Disorder,[Particular clinical situation in a disease or syndrome],Transient hyperammonemia of the newborn,,,,,,,,,,, +GARD:21160,Active,Orphanet,ORPHA:290836,Group of disorders,[Category],Systemic disease with skin involvement,,,,,,,,,,, +GARD:21161,Active,Orphanet,ORPHA:290839,Group of disorders,[Category],Autoinflammatory syndrome with immune deficiency,,,,,,,,,,, +GARD:21162,Active,Orphanet,ORPHA:290842,Group of disorders,[Category],Autoinflammatory syndrome with skin involvement,,,,,,,,,,, +GARD:21163,Active,Orphanet,ORPHA:290849,Group of disorders,[Category],Rare head and neck tumor,,,,,,,,,,, +GARD:21164,Active,Orphanet,ORPHA:293173,Disorder,[Disease],Acute generalized exanthematous pustulosis,"[AGEP, Pustular drug eruption, Toxic pustuloderma]","A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils.",,,,,,,,, +GARD:21165,Active,Orphanet,ORPHA:293199,Subtype of disorder,[Clinical subtype],Pleomorphic rhabdomyosarcoma,,"A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.",,,,,,,,, +GARD:21166,Active,Orphanet,ORPHA:293284,Subtype of disorder,[Clinical subtype],Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,"[BH4-responsive HPA/PKU, BH4-responsive hyperphenylalaninemia/phenylketonuria, Tetrahydrobiopterin-responsive HPA/PKU]","A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.",,,,,,,,, +GARD:21167,Active,Orphanet,ORPHA:293375,Disorder,[Disease],Grayson-Wilbrandt corneal dystrophy,[GWCD],Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.,,,,,,,,, +GARD:21168,Active,Orphanet,ORPHA:293462,Disorder,[Disease],Pre-Descemet corneal dystrophy,[PDCD],"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.",,,,,,,,, +GARD:21169,Active,Orphanet,ORPHA:293807,Disorder,[Disease],Ketamine-induced biliary dilatation,,"Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.",,,,,,,,, +GARD:2117,Legacy,GARD,,,,,,,,,,,,Encephalopathy recurrent of childhood,TRUE,FALSE,Active +GARD:21170,Active,Orphanet,ORPHA:293812,Disorder,[Disease],Fixed drug eruption,,"Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.",,,,,,,,, +GARD:21171,Active,Orphanet,ORPHA:293815,Group of disorders,[Category],Toxic dermatosis,,,,,,,,,,, +GARD:21172,Active,Orphanet,ORPHA:293830,Group of disorders,[Category],Constitutional dyserythropoietic anemia,,,,,,,,,,, +GARD:21173,Active,Orphanet,ORPHA:293948,Disorder,[Malformation syndrome],1p21.3 microdeletion syndrome,"[Del(1)(p21.3), Monosomy 1p21.3]","1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).",,,,,,,,, +GARD:21174,Active,Orphanet,ORPHA:293967,Disorder,[Malformation syndrome],Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,[Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome],"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.",,,,,,,,, +GARD:21175,Active,Orphanet,ORPHA:294026,Disorder,[Malformation syndrome],Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,"[Syndactyly-nystagmus syndrome due to dup(2)(q31.1), Syndactyly-nystagmus syndrome due to trisomy 2q31.1]","A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.",,,,,,,,, +GARD:21176,Active,Orphanet,ORPHA:294057,Group of disorders,[Category],Rare nevus,,,,,,,,,,, +GARD:21177,Active,Orphanet,ORPHA:294060,Group of disorders,[Clinical group],Multiple pterygium syndrome,,"A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.",,,,,,,,, +GARD:21178,Active,Orphanet,ORPHA:294422,Disorder,[Clinical syndrome],Chronic intestinal failure,[CIF],"Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).",,,,,,,,, +GARD:21179,Active,Orphanet,ORPHA:294925,Group of disorders,[Clinical group],Amelia,,,,,,,,,,, +GARD:21180,Active,Orphanet,ORPHA:294927,Group of disorders,[Clinical group],Intercalary limb defects,[Intercalary meromelia],,,,,,,,,, +GARD:21181,Active,Orphanet,ORPHA:294944,Group of disorders,[Category],Congenital deformities of limbs,,,,,,,,,,, +GARD:21182,Active,Orphanet,ORPHA:294947,Group of disorders,[Category],Congenital deformities of fingers,,,,,,,,,,, +GARD:21183,Active,Orphanet,ORPHA:294949,Group of disorders,[Category],Joint formation defects,,,,,,,,,,, +GARD:21184,Active,Orphanet,ORPHA:294951,Group of disorders,[Category],Congenital joint dislocations,,,,,,,,,,, +GARD:21185,Active,Orphanet,ORPHA:294953,Group of disorders,[Category],Non syndromic limb overgrowth,,,,,,,,,,, +GARD:21186,Active,Orphanet,ORPHA:294955,Group of disorders,[Category],Syndrome with limb reduction defects,,,,,,,,,,, +GARD:21187,Active,Orphanet,ORPHA:294957,Group of disorders,[Category],Dysostosis with combined reduction defects of upper and lower limbs,,,,,,,,,,, +GARD:21188,Active,Orphanet,ORPHA:294959,Group of disorders,[Category],"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",,,,,,,,,,, +GARD:21189,Active,Orphanet,ORPHA:294963,Group of disorders,[Clinical group],Popliteal pterygium syndrome,,,,,,,,,,, +GARD:21190,Active,Orphanet,ORPHA:294967,Disorder,[Morphological anomaly],Amelia of upper limb,,"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.",,,,,,,,, +GARD:21191,Active,Orphanet,ORPHA:294969,Disorder,[Morphological anomaly],Amelia of lower limb,,"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.",,,,,,,,, +GARD:21192,Active,Orphanet,ORPHA:294973,Disorder,[Morphological anomaly],Humeral agenesis/hypoplasia,"[Congenital absence of humerus, Congenital hypoplasia of humerus, Humeral intercalary meromelia]","Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.",,,,,,,,, +GARD:21193,Active,Orphanet,ORPHA:294977,Disorder,[Morphological anomaly],Congenital absence of thigh and lower leg with foot present,[Femorotibiofibular intercalary transverse meromelia],"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.",,,,,,,,, +GARD:21194,Active,Orphanet,ORPHA:294979,Disorder,[Morphological anomaly],Congenital absence of both forearm and hand,[Radio-ulnar terminal transverse meromelia],"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.",,,,,,,,, +GARD:21195,Active,Orphanet,ORPHA:294981,Disorder,[Morphological anomaly],Congenital absence of both lower leg and foot,[Tibiofibular terminal transverse meromelia],"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.",,,,,,,,, +GARD:21196,Active,Orphanet,ORPHA:294983,Disorder,[Morphological anomaly],Acheiria,[Congenital absence of hand],A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.,,,,,,,,, +GARD:21197,Active,Orphanet,ORPHA:294986,Disorder,[Morphological anomaly],Apodia,[Congenital absence of foot],"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.",,,,,,,,, +GARD:21198,Active,Orphanet,ORPHA:294988,Disorder,[Morphological anomaly],Congenital hypoplasia of thumb,"[Congenital absence/hypoplasia of thumb, Thumb hypodactyly, Thumb oligodactyly]","A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.",,,,,,,,, +GARD:21199,Active,Orphanet,ORPHA:295002,Disorder,[Morphological anomaly],Hyperphalangy,"[Supernumerary phalanges, Supernumerary phalanx]","Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.",,,,,,,,, +GARD:212,Active,Orphanet,ORPHA:2709,Disorder,[Malformation syndrome],"Oculodental syndrome, Rutherfurd type","[Gingival hypertrophy-corneal dystrophy, Rutherfurd syndrome]","Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.",[180900],,,,,Rutherfurd syndrome,TRUE,FALSE,Active +GARD:21200,Active,Orphanet,ORPHA:295004,Disorder,[Morphological anomaly],Central polydactyly,[Mesoaxial polydactyly],A rare congenital limb malformation characterized by complete or partial duplication of one of the three middle digits in a hand or foot. It most commonly affects the fourth digit. The malformation may be unilateral or bilateral and can occur as an isolated defect or in association with other anomalies.,,,,,,,,, +GARD:21201,Active,Orphanet,ORPHA:295012,Disorder,[Morphological anomaly],Syndactyly type 6,"[Mitten hand, Syndactyly, mitten type, Unilateral syndactyly of digits 2-5]","A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.",,,,,,,,, +GARD:21202,Active,Orphanet,ORPHA:295014,Disorder,[Morphological anomaly],Familial isolated clinodactyly of fingers,,"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.",,,,,,,,, +GARD:21203,Active,Orphanet,ORPHA:295018,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the tibia,[Congenital pseudarthrosis of the tibia],"A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.",,,,,,,,, +GARD:21204,Active,Orphanet,ORPHA:295020,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the femur,[Congenital pseudarthrosis of the femur],"A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.",,,,,,,,, +GARD:21205,Active,Orphanet,ORPHA:295022,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the fibula,[Congenital pseudarthrosis of the fibula],"A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.",,,,,,,,, +GARD:21206,Active,Orphanet,ORPHA:295024,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the radius,[Congenital pseudarthrosis of the radius],"A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.",,,,,,,,, +GARD:21207,Active,Orphanet,ORPHA:295026,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the ulna,[Congenital pseudarthrosis of the ulna],"A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.",,,,,,,,, +GARD:21208,Active,Orphanet,ORPHA:295028,Disorder,[Morphological anomaly],Tibio-fibular synostosis,[Tibio-fibular fusion],"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.",,,,,,,,, +GARD:21209,Active,Orphanet,ORPHA:295030,Disorder,[Morphological anomaly],True congenital shoulder dislocation,,"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.",,,,,,,,, +GARD:2121,Legacy,GARD,,,,,,,,,,,,Endomyocardial fibroelastosis,TRUE,FALSE,Retired +GARD:21210,Active,Orphanet,ORPHA:295032,Disorder,[Morphological anomaly],Isolated congenital radial head dislocation,[Isolated congenital elbow dislocation],"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.",,,,,,,,, +GARD:21211,Active,Orphanet,ORPHA:295034,Disorder,[Morphological anomaly],Congenital knee dislocation,,"A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).",,,,,,,,, +GARD:21212,Active,Orphanet,ORPHA:295049,Disorder,[Morphological anomaly],Upper limb hypertrophy,,,,,,,,,,, +GARD:21213,Active,Orphanet,ORPHA:295051,Disorder,[Morphological anomaly],Lower limb hypertrophy,,"A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.",,,,,,,,, +GARD:21214,Active,Orphanet,ORPHA:295189,Subtype of disorder,[Clinical subtype],Zygodactyly type 2,"[SD1, Lueken type, SD1b, Syndactyly type 1, Lueken type, Syndactyly type 1b, Zygodactyly, Lueken type]",,,,,,,,,, +GARD:21215,Active,Orphanet,ORPHA:295191,Subtype of disorder,[Clinical subtype],Zygodactyly type 3,"[SD1, Montagu type, SD1c, Syndactyly type 1, Montagu type, Syndactyly type 1c, Zygodactyly, Montagu type]",,,,,,,,,, +GARD:21216,Active,Orphanet,ORPHA:295193,Subtype of disorder,[Clinical subtype],Zygodactyly type 4,"[SD1, Castilla type, SD1d, Syndactyly type 1, Castilla type, Syndactyly type 1d, Zygodactyly, Castilla type]",,,,,,,,,, +GARD:21217,Active,Orphanet,ORPHA:295201,Subtype of disorder,[Clinical subtype],"Congenital vertical talus, unilateral",,,,,,,,,,, +GARD:21218,Active,Orphanet,ORPHA:295203,Subtype of disorder,[Clinical subtype],"Congenital vertical talus, bilateral",,,,,,,,,,, +GARD:21219,Active,Orphanet,ORPHA:295213,Subtype of disorder,[Clinical subtype],"Humero-ulnar synostosis, unilateral","[Humero-ulnar fusion, unilateral]",,,,,,,,,, +GARD:21220,Active,Orphanet,ORPHA:295215,Subtype of disorder,[Clinical subtype],"Humero-ulnar synostosis, bilateral","[Humero-ulnar fusion, bilateral]",,,,,,,,,, +GARD:21221,Active,Orphanet,ORPHA:295217,Subtype of disorder,[Clinical subtype],"Radio-ulnar synostosis, unilateral","[Radio-ulnar fusion, unilateral]",,,,,,,,,, +GARD:21222,Active,Orphanet,ORPHA:295219,Subtype of disorder,[Clinical subtype],"Radio-ulnar synostosis, bilateral","[Radio-ulnar fusion, bilateral]",,,,,,,,,, +GARD:21223,Active,Orphanet,ORPHA:295225,Subtype of disorder,[Clinical subtype],"Congenital elbow dislocation, unilateral",,,,,,,,,,, +GARD:21224,Active,Orphanet,ORPHA:295227,Subtype of disorder,[Clinical subtype],"Congenital elbow dislocation, bilateral",,,,,,,,,,, +GARD:21225,Active,Orphanet,ORPHA:295229,Subtype of disorder,[Clinical subtype],Congenital genu recurvatum,,"A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen's syndrome).",,,,,,,,, +GARD:21226,Active,Orphanet,ORPHA:295232,Subtype of disorder,[Clinical subtype],Congenital genu flexum,,A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).,,,,,,,,, +GARD:21227,Active,Orphanet,ORPHA:295239,Subtype of disorder,[Clinical subtype],"Macrodactyly of fingers, unilateral","[Macrodactyly of hand, unilateral]",,,,,,,,,, +GARD:21228,Active,Orphanet,ORPHA:295241,Subtype of disorder,[Clinical subtype],"Macrodactyly of fingers, bilateral","[Macrodactyly of hand, bilateral]",,,,,,,,,, +GARD:21229,Active,Orphanet,ORPHA:295243,Subtype of disorder,[Clinical subtype],"Macrodactyly of toes, unilateral","[Macrodactyly of foot, unilateral]",,,,,,,,,, +GARD:2123,Active,Orphanet,ORPHA:1937,Disorder,[Malformation syndrome],Eng-Strom syndrome,[Short stature-locking fingers syndrome],A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.,[135950],,,,,Eng Strom syndrome,TRUE,FALSE,Retired +GARD:21230,Active,Orphanet,ORPHA:295245,Subtype of disorder,[Clinical subtype],"Macrodactyly of toes, bilateral","[Macrodactyly of foot, bilateral]",,,,,,,,,, +GARD:21231,Active,Orphanet,ORPHA:298644,Group of disorders,[Category],Disorder of thiamine metabolism and transport,,,,,,,,,,, +GARD:21232,Active,Orphanet,ORPHA:300305,Disorder,[Malformation syndrome],11p15.4 microduplication syndrome,"[Dup(11)p(15.4), Trisomy 11p15.4]","A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.",,,,,,,,, +GARD:21233,Active,Orphanet,ORPHA:300493,Disorder,[Particular clinical situation in a disease or syndrome],Sagliker syndrome,,"A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.",,,,,,,,, +GARD:21234,Active,Orphanet,ORPHA:300512,Disorder,[Disease],Onychomatricoma,,"Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.",,,,,,,,, +GARD:21235,Active,Orphanet,ORPHA:300515,Group of disorders,[Category],Rare nail tumor,,,,,,,,,,, +GARD:21236,Active,Orphanet,ORPHA:300552,Disorder,[Disease],Follicular cholangitis and pancreatitis,[Follicular pancreatocholangitis],"Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.",,,,,,,,, +GARD:21237,Active,Orphanet,ORPHA:300557,Disorder,[Disease],Carcinoma of the ampulla of Vater,"[Ampullary carcinoma, Ampulloma]","Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.",,,,,,,,, +GARD:21238,Active,Orphanet,ORPHA:300564,Disorder,[Disease],Combined pulmonary fibrosis-emphysema syndrome,[CPFE],"A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.",,,,,,,,, +GARD:21239,Active,Orphanet,ORPHA:300579,Group of disorders,[Category],Staphylococcal toxemia,,,,,,,,,,, +GARD:2124,Legacy,GARD,,,,,,,,,,,,Engelhard Yatziv syndrome,TRUE,FALSE,Active +GARD:21240,Active,Orphanet,ORPHA:300755,Group of disorders,[Category],Laminopathy with striated muscle involvement,,,,,,,,,,, +GARD:21241,Active,Orphanet,ORPHA:300758,Group of disorders,[Category],Laminopathy with peripheral neuropathy,,,,,,,,,,, +GARD:21242,Active,Orphanet,ORPHA:300763,Group of disorders,[Category],Laminopathy with lipodystrophy,,,,,,,,,,, +GARD:21243,Active,Orphanet,ORPHA:300766,Group of disorders,[Category],Laminopathy with premature aging,,,,,,,,,,, +GARD:21244,Active,Orphanet,ORPHA:300842,Group of disorders,[Category],Indolent B-cell non-Hodgkin lymphoma,[Indolent B-cell NHL],,,,,,,,,, +GARD:21245,Active,Orphanet,ORPHA:300846,Group of disorders,[Category],Aggressive B-cell non-Hodgkin lymphoma,[Aggressive B-cell NHL],,,,,,,,,, +GARD:21246,Active,Orphanet,ORPHA:300849,Disorder,[Disease],Diffuse large B-cell lymphoma of the central nervous system,[DLBCL of the CNS],,,,,,,,,, +GARD:21247,Active,Orphanet,ORPHA:300865,Disorder,[Disease],Primary cutaneous anaplastic large cell lymphoma,"[Primary C-ALCL, Regressive atypical histiocytosis]",Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.,,,,,,,,, +GARD:21248,Active,Orphanet,ORPHA:300869,Disorder,[Disease],Splenic diffuse red pulp small B-cell lymphoma,"[SDRPL, Splenic diffuse red pulp lymphoma]","Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.",,,,,,,,, +GARD:21249,Active,Orphanet,ORPHA:300878,Disorder,[Disease],Hairy cell leukemia variant,"[HCL-v, Leukemic reticuloendotheliosis variant, Prolymphocytic variant of HCL, Prolymphocytic variant of hairy cell leukemia]","A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.",,,,,,,,, +GARD:2125,Active,Orphanet,ORPHA:99849,Disorder,[Disease],Glycogen storage disease due to muscle beta-enolase deficiency,"[GSD due to muscle beta-enolase deficiency, GSDXIII, Glycogenosis due to muscle beta-enolase deficiency, Glycogenosis type 13, Muscle enolase deficiency, Muscular enolase deficiency]",Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.,[612932],,,,,Glycogen storage disease type 13,TRUE,FALSE,Active +GARD:21250,Active,Orphanet,ORPHA:300888,Disorder,[Disease],Diffuse large B-cell lymphoma with chronic inflammation,[DLBCL with chronic inflammation],"Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.",,,,,,,,, +GARD:21251,Active,Orphanet,ORPHA:300895,Subtype of disorder,[Histopathological subtype],ALK-positive anaplastic large cell lymphoma,"[ALK+ ALCL, ALK+ anaplastic large cell lymphoma]","A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).",,,,,,,,, +GARD:21252,Active,Orphanet,ORPHA:300903,Subtype of disorder,[Histopathological subtype],ALK-negative anaplastic large cell lymphoma,"[ALK- ALCL, ALK- anaplastic large cell lymphoma]","A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).",,,,,,,,, +GARD:21253,Active,Orphanet,ORPHA:304055,Group of disorders,[Category],Pituitary tumor,,,,,,,,,,, +GARD:21254,Active,Orphanet,ORPHA:306516,Disorder,[Disease],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,"[FHHNC, Michellis-Castrillo syndrome]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).",,,,,,,,, +GARD:21255,Active,Orphanet,ORPHA:306553,Disorder,[Disease],Myospherulosis,"[Spherulocytosis, Subcutaneous spherulocystic disease]","A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.",,,,,,,,, +GARD:21256,Active,Orphanet,ORPHA:306633,Group of disorders,[Category],Rare tumor of gallbladder and extrahepatic biliary tract,[Rare tumor of gallbladder and EBT],,,,,,,,,, +GARD:21257,Active,Orphanet,ORPHA:306636,Group of disorders,[Category],Rare tumor of liver and intrahepatic biliary tract,[Rare tumor of liver and IBT],,,,,,,,,, +GARD:21258,Active,Orphanet,ORPHA:306640,Group of disorders,[Category],Rare intoxication due to medical products,,,,,,,,,,, +GARD:21259,Active,Orphanet,ORPHA:306644,Disorder,[Particular clinical situation in a disease or syndrome],Complication after organ transplantation,,,,,,,,,,, +GARD:2126,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 1,TRUE,FALSE,Retired +GARD:21260,Active,Orphanet,ORPHA:306648,Group of disorders,[Category],Non-infectious anterior uveitis,[Non-infectious iridocyclitis],,,,,,,,,, +GARD:21261,Active,Orphanet,ORPHA:306666,Group of disorders,[Category],Rare parkinsonian syndrome due to neurodegenerative disease,,,,,,,,,,, +GARD:21262,Active,Orphanet,ORPHA:306669,Disorder,[Disease],Hemiparkinsonism-hemiatrophy syndrome,[HP-HA syndrome],"Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.",,,,,,,,, +GARD:21263,Active,Orphanet,ORPHA:306679,Group of disorders,[Category],Rare parkinsonian syndrome due to intoxication,,,,,,,,,,, +GARD:21264,Active,Orphanet,ORPHA:306682,Disorder,[Disease],Manganese poisoning,"[Manganese intoxication, Manganism]","A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.",,,,,,,,, +GARD:21265,Active,Orphanet,ORPHA:306686,Disorder,[Disease],Delayed encephalopathy due to carbon monoxide poisoning,[Delayed encephalopathy due to CO poisoning],"A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.",,,,,,,,, +GARD:21266,Active,Orphanet,ORPHA:306692,Disorder,[Disease],Cyanide-induced parkinsonism-dystonia,,"A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.",,,,,,,,, +GARD:21267,Active,Orphanet,ORPHA:306695,Group of disorders,[Category],Miscellaneous movement disorder due to neurodegenerative disease,,,,,,,,,,, +GARD:21268,Active,Orphanet,ORPHA:306708,Group of disorders,[Category],Frontotemporal neurodegeneration with movement disorder,,,,,,,,,,, +GARD:21269,Active,Orphanet,ORPHA:306712,Group of disorders,[Category],Rare tremor disorder,,,,,,,,,,, +GARD:2127,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 2,TRUE,FALSE,Retired +GARD:21270,Active,Orphanet,ORPHA:306715,Group of disorders,[Category],Rare choreic movement disorder,,,,,,,,,,, +GARD:21271,Active,Orphanet,ORPHA:306719,Group of disorders,[Category],Neurodegenerative disease with chorea,,,,,,,,,,, +GARD:21272,Active,Orphanet,ORPHA:306727,Group of disorders,[Category],Postinfectious autoimmune disease with chorea,,,,,,,,,,, +GARD:21273,Active,Orphanet,ORPHA:306741,Disorder,[Disease],Hemidystonia-hemiatrophy syndrome,[HD-HA syndrome],"Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.",,,,,,,,, +GARD:21274,Active,Orphanet,ORPHA:306747,Group of disorders,[Category],Rare myoclonus,,,,,,,,,,, +GARD:21275,Active,Orphanet,ORPHA:306750,Group of disorders,[Category],Primary myoclonus,,,,,,,,,,, +GARD:21276,Active,Orphanet,ORPHA:306753,Group of disorders,[Category],Rare disease with myoclonus as a major feature,,,,,,,,,,, +GARD:21277,Active,Orphanet,ORPHA:306756,Group of disorders,[Category],Epilepsy and/or ataxia with myoclonus as a major feature,,,,,,,,,,, +GARD:21278,Active,Orphanet,ORPHA:306759,Group of disorders,[Category],Non progressive epilepsy and/or ataxia with myoclonus as a major feature,,,,,,,,,,, +GARD:21279,Active,Orphanet,ORPHA:306765,Group of disorders,[Category],Motor stereotypies,,,,,,,,,,, +GARD:2128,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 3,TRUE,FALSE,Retired +GARD:21280,Active,Orphanet,ORPHA:306768,Group of disorders,[Category],Rare paroxysmal movement disorder,,,,,,,,,,, +GARD:21281,Active,Orphanet,ORPHA:306773,Group of disorders,[Clinical group],Hyperekplexia,,,,,,,,,,, +GARD:21282,Active,Orphanet,ORPHA:306776,Disorder,[Disease],Sporadic hyperekplexia,,"A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.",,,,,,,,, +GARD:21283,Active,Orphanet,ORPHA:307052,Group of disorders,[Category],Rare genetic parkinsonian disorder,[Rare genetic hypokinetic movement disorder],,,,,,,,,, +GARD:21284,Active,Orphanet,ORPHA:307055,Group of disorders,[Category],Rare parkinsonian syndrome due to genetic neurodegenerative disease,,,,,,,,,,, +GARD:21285,Active,Orphanet,ORPHA:307058,Group of disorders,[Category],Miscellaneous movement disorder due to genetic neurodegenerative disease,,,,,,,,,,, +GARD:21286,Active,Orphanet,ORPHA:307061,Group of disorders,[Category],Rare genetic tremor disorder,,,,,,,,,,, +GARD:21287,Active,Orphanet,ORPHA:307064,Group of disorders,[Category],Rare genetic myoclonus,,,,,,,,,,, +GARD:21288,Active,Orphanet,ORPHA:307067,Group of disorders,[Category],Rare genetic disease with myoclonus as a major feature,,,,,,,,,,, +GARD:21289,Active,Orphanet,ORPHA:307141,Group of disorders,[Category],Diffuse palmoplantar keratoderma,"[Diffuse PPK, Diffuse keratosis palmoplantaris, Diffuse palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:2129,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 4,TRUE,FALSE,Retired +GARD:21290,Active,Orphanet,ORPHA:307148,Group of disorders,[Clinical group],Isolated diffuse palmoplantar keratoderma,"[Isolated diffuse PPK, Isolated diffuse keratosis palmoplantaris, Isolated diffuse palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21291,Active,Orphanet,ORPHA:307711,Group of disorders,[Category],Disease with diffuse palmoplantar keratoderma as a major feature,[Disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21292,Active,Orphanet,ORPHA:307773,Group of disorders,[Clinical group],Autosomal dominant diffuse mutilating palmoplantar keratoderma,[Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis],,,,,,,,,, +GARD:21293,Active,Orphanet,ORPHA:307804,Group of disorders,[Category],Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,[Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21294,Active,Orphanet,ORPHA:307837,Group of disorders,[Category],Focal palmoplantar keratoderma,"[Focal PPK, Focal keratosis palmoplantaris, Focal palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21295,Active,Orphanet,ORPHA:307846,Group of disorders,[Clinical group],Isolated focal palmoplantar keratoderma,"[Isolated focal PPK, Isolated focal keratosis palmoplantaris, Isolated focal palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21296,Active,Orphanet,ORPHA:307871,Group of disorders,[Category],Disease with focal palmoplantar keratoderma as a major feature,[Disease with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21297,Active,Orphanet,ORPHA:307967,Group of disorders,[Category],Punctate palmoplantar keratoderma,"[Punctate PPK, Punctate keratosis palmoplantaris, Punctate palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21298,Active,Orphanet,ORPHA:307995,Group of disorders,[Clinical group],Marginal papular palmoplantar keratoderma,[Marginal papular palmoplantar hyperkeratosis],,,,,,,,,, +GARD:21299,Active,Orphanet,ORPHA:308013,Disorder,[Disease],Focal acral hyperkeratosis,"[PPKP3 without elastoidosis, PPPK3 without elastoidosis, Punctate palmoplantar hyperkeratosis type 3 without elastoidosis, Punctate palmoplantar keratoderma type 3 without elastoidosis]","A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.",,,,,,,,, +GARD:213,Active,Orphanet,ORPHA:1834,Disorder,[Malformation syndrome],Axial mesodermal dysplasia spectrum,"[Blastogenesis defect, Russell-Weaver-Bull syndrome]","Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.",,,,,,Axial mesodermal dysplasia spectrum,TRUE,FALSE,Active +GARD:2130,Active,Orphanet,ORPHA:292,Disorder,[Disease],Congenital enterovirus infection,"[Antenatal enterovirus infection, Mother-to-child transmission of enterovirus infection]","An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.",,,,,,Enterovirus antenatal infection,TRUE,FALSE,Active +GARD:21300,Active,Orphanet,ORPHA:308023,Group of disorders,[Category],Disease with punctate palmoplantar keratoderma as a major feature,[Disease with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21301,Active,Orphanet,ORPHA:308031,Group of disorders,[Category],Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,[Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21302,Active,Orphanet,ORPHA:308041,Group of disorders,[Category],Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,[Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21303,Active,Orphanet,ORPHA:308407,Group of disorders,[Category],Disorder of beta and omega amino acid metabolism,,,,,,,,,,, +GARD:21304,Active,Orphanet,ORPHA:308448,Group of disorders,[Clinical group],Aminoacylase deficiency,,,,,,,,,,, +GARD:21305,Active,Orphanet,ORPHA:308451,Group of disorders,[Category],Disorder of neutral amino acid transport,,,,,,,,,,, +GARD:21306,Active,Orphanet,ORPHA:308459,Group of disorders,[Category],Disorder of glycolysis,,,,,,,,,,, +GARD:21307,Active,Orphanet,ORPHA:308463,Group of disorders,[Category],Disorder of fructose metabolism,,,,,,,,,,, +GARD:21308,Active,Orphanet,ORPHA:308467,Group of disorders,[Category],Disorder of galactose metabolism,,,,,,,,,,, +GARD:21309,Active,Orphanet,ORPHA:308520,Group of disorders,[Clinical group],Glycogen storage disease due to glycogen synthase deficiency,"[GSD due to glycogen synthase deficiency, Glycogenosis due to glycogen synthase deficiency]",,,,,,,,,, +GARD:2131,Legacy,GARD,,,,,,,,,,,,Envenomization by bothrops lanceolatus,TRUE,FALSE,Retired +GARD:21310,Active,Orphanet,ORPHA:308552,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to acid maltase deficiency, infantile onset","[Alpha-1,4-glucosidase acid deficiency, infantile onset, GSD due to acid maltase deficiency, infantile onset, GSD type 2, infantile onset, GSD type II, infantile onset, Glycogen storage disease type 2, infantile onset, Glycogen storage disease type II, infantile onset, Glycogenosis due to acid maltase deficiency, infantile onset, Glycogenosis type 2, infantile onset, Glycogenosis type II, infantile onset, Pompe disease, infantile onset]","Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.",,,,,,,,, +GARD:21311,Active,Orphanet,ORPHA:308993,Group of disorders,[Clinical group],Glycerol kinase deficiency,,,,,,,,,,, +GARD:21312,Active,Orphanet,ORPHA:308998,Group of disorders,[Category],Disorder of glyoxylate metabolism,,,,,,,,,,, +GARD:21313,Active,Orphanet,ORPHA:309001,Group of disorders,[Category],Disorder of carbohydrate absorption and transport,,,,,,,,,,, +GARD:21314,Active,Orphanet,ORPHA:309005,Group of disorders,[Category],Disorder of lipid metabolism,,,,,,,,,,, +GARD:21315,Active,Orphanet,ORPHA:309025,Disorder,[Disease],Mevalonate kinase deficiency,[MKD],A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.,,,,,,,,, +GARD:21316,Active,Orphanet,ORPHA:309028,Group of disorders,[Category],Disorder of lipid absorption and transport,,,,,,,,,,, +GARD:21317,Active,Orphanet,ORPHA:309115,Group of disorders,[Category],Disorder of fatty acid oxidation and ketogenesis,,,,,,,,,,, +GARD:21318,Active,Orphanet,ORPHA:309120,Group of disorders,[Clinical group],Acyl-CoA dehydrogenase deficiency,,,,,,,,,,, +GARD:21319,Active,Orphanet,ORPHA:309127,Group of disorders,[Clinical group],3-hydroxyacyl-CoA dehydrogenase deficiency,,,,,,,,,,, +GARD:21320,Active,Orphanet,ORPHA:309130,Group of disorders,[Category],Disorder of carnitine cycle and carnitine transport,,,,,,,,,,, +GARD:21321,Active,Orphanet,ORPHA:309133,Group of disorders,[Category],Metabolic disease due to other fatty acid oxidation disorder,,,,,,,,,,, +GARD:21322,Active,Orphanet,ORPHA:309136,Group of disorders,[Category],Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes,,,,,,,,,,, +GARD:21323,Active,Orphanet,ORPHA:309152,Group of disorders,[Clinical group],GM2 gangliosidosis,,,,,,,,,,, +GARD:21324,Active,Orphanet,ORPHA:309178,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, infantile form","[GM2 gangliosidosis, B variant, infantile form, Hexosaminidase A deficiency, infantile form]",,,,,,,,,, +GARD:21325,Active,Orphanet,ORPHA:309185,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, juvenile form","[GM2 gangliosidosis, B variant, juvenile form, Hexosaminidase A deficiency, juvenile form]",,,,,,,,,, +GARD:21326,Active,Orphanet,ORPHA:309192,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, adult form","[GM2 gangliosidosis, B variant, adult form, Hexosaminidase A deficiency, adult form]",,,,,,,,,, +GARD:21327,Active,Orphanet,ORPHA:309239,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B1 variant","[GM2 gangliosidosis, B1 variant, Hexosaminidase A deficiency, B1 variant]",,,,,,,,,, +GARD:21328,Active,Orphanet,ORPHA:309256,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, late infantile form","[Arylsulfatase A deficiency, late infantile form, MLD, late infantile form]","A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.",,,,,,,,, +GARD:21329,Active,Orphanet,ORPHA:309263,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, juvenile form","[Arylsulfatase A deficiency, juvenile form, MLD, juvenile form]","A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.",,,,,,,,, +GARD:21330,Active,Orphanet,ORPHA:309271,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, adult form","[Arylsulfatase A deficiency, adult form, MLD, adult form]","A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.",,,,,,,,, +GARD:21331,Active,Orphanet,ORPHA:309294,Group of disorders,[Clinical group],Sialidosis,,"Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.",,,,,,,,, +GARD:21332,Active,Orphanet,ORPHA:309319,Group of disorders,[Category],Disorder of sialic acid metabolism,,,,,,,,,,, +GARD:21333,Active,Orphanet,ORPHA:309337,Group of disorders,[Category],Lysosomal glycogen storage disease,,,,,,,,,,, +GARD:21334,Active,Orphanet,ORPHA:309340,Group of disorders,[Category],Disorder of lysosomal-related organelles,,,,,,,,,,, +GARD:21335,Active,Orphanet,ORPHA:309347,Group of disorders,[Category],Disorder of protein N-glycosylation,,,,,,,,,,, +GARD:21336,Active,Orphanet,ORPHA:309447,Group of disorders,[Category],Disorder of protein O-glycosylation,,,,,,,,,,, +GARD:21337,Active,Orphanet,ORPHA:309450,Group of disorders,[Category],Disorder of O-xylosylglycan synthesis,,,,,,,,,,, +GARD:21338,Active,Orphanet,ORPHA:309458,Group of disorders,[Category],Disorder of O-N-acetylgalactosaminylglycan synthesis,,,,,,,,,,, +GARD:21339,Active,Orphanet,ORPHA:309463,Group of disorders,[Category],Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis,,,,,,,,,,, +GARD:2134,Legacy,GARD,,,,,,,,,,,,Idiopathic eosinophilic chronic pneumopathy (IECP),TRUE,FALSE,Retired +GARD:21340,Active,Orphanet,ORPHA:309469,Group of disorders,[Category],Disorder of O-mannosylglycan synthesis,,,,,,,,,,, +GARD:21341,Active,Orphanet,ORPHA:309505,Group of disorders,[Category],Disorder of fucoglycosan synthesis,,,,,,,,,,, +GARD:21342,Active,Orphanet,ORPHA:309515,Group of disorders,[Category],Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,[Disorder of glycosphingolipid and GPI-anchored proteins glycosylation],,,,,,,,,, +GARD:21343,Active,Orphanet,ORPHA:309526,Group of disorders,[Category],Disorder of multiple glycosylation,,,,,,,,,,, +GARD:21344,Active,Orphanet,ORPHA:309568,Group of disorders,[Category],Defect in conserved oligomeric Golgi complex,[Defect in COG complex],,,,,,,,,, +GARD:21345,Active,Orphanet,ORPHA:309778,Group of disorders,[Category],Defect in V-ATPase,,,,,,,,,,, +GARD:21346,Active,Orphanet,ORPHA:309813,Group of disorders,[Category],Disorder of porphyrin and heme metabolism,,,,,,,,,,, +GARD:21347,Active,Orphanet,ORPHA:309816,Group of disorders,[Category],Disorder of bilirubin metabolism and excretion,,,,,,,,,,, +GARD:21348,Active,Orphanet,ORPHA:309819,Group of disorders,[Category],Disorder of pterin metabolism,,,,,,,,,,, +GARD:21349,Active,Orphanet,ORPHA:309824,Group of disorders,[Category],Disorder of metabolite absorption and transport,,,,,,,,,,, +GARD:21350,Active,Orphanet,ORPHA:309827,Group of disorders,[Category],Disorder of vitamin and non-protein cofactor absorption and transport,,,,,,,,,,, +GARD:21351,Active,Orphanet,ORPHA:309830,Group of disorders,[Category],Disorder of catecholamine synthesis,,,,,,,,,,, +GARD:21352,Active,Orphanet,ORPHA:309833,Group of disorders,[Category],Disorder of other vitamins and cofactors metabolism and transport,,,,,,,,,,, +GARD:21353,Active,Orphanet,ORPHA:309836,Group of disorders,[Category],Disorder of mineral absorption and transport,,,,,,,,,,, +GARD:21354,Active,Orphanet,ORPHA:309839,Group of disorders,[Category],Disorder of copper metabolism,,,,,,,,,,, +GARD:21355,Active,Orphanet,ORPHA:309842,Group of disorders,[Category],Disorder of iron metabolism and transport,,,,,,,,,,, +GARD:21356,Active,Orphanet,ORPHA:309845,Group of disorders,[Category],Disorder of zinc metabolism and transport,,,,,,,,,,, +GARD:21357,Active,Orphanet,ORPHA:309848,Group of disorders,[Category],Disorder of magnesium transport,,,,,,,,,,, +GARD:21358,Active,Orphanet,ORPHA:309851,Group of disorders,[Category],Disorder of manganese transport,,,,,,,,,,, +GARD:21359,Active,Orphanet,ORPHA:310050,Group of disorders,[Category],Acquired immunodeficiency,,,,,,,,,,, +GARD:2136,Legacy,GARD,,,,,,,,,,,,Epidermal nevus vitamin D resistant rickets,TRUE,FALSE,Active +GARD:21360,Active,Orphanet,ORPHA:313781,Disorder,[Malformation syndrome],20p13 microdeletion syndrome,"[20p subtelomeric deletion syndrome, Del(20)(p13), Monosomy 20p13]","20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.",,,,,,,,, +GARD:21361,Active,Orphanet,ORPHA:313906,Disorder,[Morphological anomaly],Congenital pancreatic cyst,"[Neonatal congenital pancreatic cyst, True congenital pancreatic cyst]","A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).",,,,,,,,, +GARD:21362,Active,Orphanet,ORPHA:313920,Disorder,[Disease],Epstein-Barr virus-associated gastric carcinoma,"[EBV-associated gastric carcinoma, EBVaGC]","A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.",,,,,,,,, +GARD:21363,Active,Orphanet,ORPHA:313947,Disorder,[Malformation syndrome],2q23.1 microduplication syndrome,"[Dup(2)(q23.1), Trisomy 2q23.1]","2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.",,,,,,,,, +GARD:21364,Active,Orphanet,ORPHA:314002,Disorder,[Malformation syndrome],Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,[Dinno syndrome],"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.",,,,,,,,, +GARD:21365,Active,Orphanet,ORPHA:314017,Disorder,[Disease],Idiopathic linear interstitial keratitis,,"Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.",,,,,,,,, +GARD:21366,Active,Orphanet,ORPHA:314029,Disorder,[Disease],High bone mass osteogenesis imperfecta,[High bone mass OI],"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.",,,,,,,,, +GARD:21367,Active,Orphanet,ORPHA:314034,Disorder,[Malformation syndrome],7p22.1 microduplication syndrome,"[Dup(7)(p22.1), Trisomy 7p22.1]","7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.",,,,,,,,, +GARD:21368,Active,Orphanet,ORPHA:314041,Disorder,[Malformation syndrome],Marfanoid habitus-inguinal hernia-advanced bone age syndrome,,"Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).",,,,,,,,, +GARD:21369,Active,Orphanet,ORPHA:314389,Disorder,[Malformation syndrome],Xq12-q13.3 duplication syndrome,[Dup(X)(q12-q13.3)],"Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.",,,,,,,,, +GARD:2137,Active,Orphanet,ORPHA:257,Disorder,[Disease],Epidermolysis bullosa simplex with muscular dystrophy,"[EBS with muscular dystrophy, EBS-MD, Limb-girdle muscular dystrophy with epidermolysis bullosa simplex]",A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.,[226670],,,,,Epidermolysa bullosa simplex with muscular dystrophy,TRUE,FALSE,Active +GARD:21370,Active,Orphanet,ORPHA:314425,Group of disorders,[Category],Rare odontogenic tumor,,,,,,,,,,, +GARD:21371,Active,Orphanet,ORPHA:314432,Disorder,[Malformation syndrome],Spigelian hernia-cryptorchidism syndrome,,"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.",,,,,,,,, +GARD:21372,Active,Orphanet,ORPHA:314451,Disorder,[Clinical syndrome],Meigs syndrome,[Demons-Meigs syndrome],"Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.",,,,,,,,, +GARD:21373,Active,Orphanet,ORPHA:314459,Disorder,[Clinical syndrome],Pseudo-Meigs syndrome,[Pseudo-Demons-Meigs syndrome],"Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.",,,,,,,,, +GARD:21374,Active,Orphanet,ORPHA:314466,Disorder,[Clinical syndrome],Atypical Meigs syndrome,"[Atypical Demons-Meigs syndrome, Incomplete Meigs syndrome]","A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.",,,,,,,,, +GARD:21375,Active,Orphanet,ORPHA:314473,Disorder,[Disease],Ovarian fibroma,,"A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.",,,,,,,,, +GARD:21376,Active,Orphanet,ORPHA:314478,Disorder,[Disease],Ovarian fibrothecoma,,"Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).",,,,,,,,, +GARD:21377,Active,Orphanet,ORPHA:314566,Disorder,[Disease],Primary progressive apraxia of speech,[PPAOS],"Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.",,,,,,,,, +GARD:21378,Active,Orphanet,ORPHA:314572,Disorder,[Disease],Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,,"A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.",,,,,,,,, +GARD:21379,Active,Orphanet,ORPHA:314575,Disorder,[Malformation syndrome],Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,,"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.",,,,,,,,, +GARD:21380,Active,Orphanet,ORPHA:314613,Disorder,[Particular clinical situation in a disease or syndrome],Growing teratoma syndrome,,,,,,,,,,, +GARD:21381,Active,Orphanet,ORPHA:314621,Disorder,[Morphological anomaly],Duplication of the pituitary gland,"[DPG-plus syndrome, Duplication of the pituitary gland-plus syndrome, Hypophyseal duplication]","Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).",,,,,,,,, +GARD:21382,Active,Orphanet,ORPHA:314652,Disorder,[Disease],Variant ABeta2M amyloidosis,[Autosomal dominant beta2-microglobulinic amyloidosis],"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.",,,,,,,,, +GARD:21383,Active,Orphanet,ORPHA:314655,Subtype of disorder,[Etiological subtype],Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,"[5q31.3 microdeletion syndrome, Del(5)(q31.3), Monosomy 5q31.3]",,,,,,,,,, +GARD:21384,Active,Orphanet,ORPHA:314662,Disorder,[Disease],Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,,"A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.",,,,,,,,, +GARD:21385,Active,Orphanet,ORPHA:314684,Disorder,[Disease],Primary bone lymphoma,,"Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.",,,,,,,,, +GARD:21386,Active,Orphanet,ORPHA:314697,Subtype of disorder,[Etiological subtype],Acquired porencephaly,,,,,,,,,,, +GARD:21387,Active,Orphanet,ORPHA:314709,Subtype of disorder,[Clinical subtype],Primary localized amyloidosis,[Localized AL amyloidosis],,,,,,,,,, +GARD:21388,Active,Orphanet,ORPHA:314749,Group of disorders,[Category],Rare disease with Cushing syndrome as a major feature,,,,,,,,,,, +GARD:21389,Active,Orphanet,ORPHA:314753,Group of disorders,[Clinical group],Functioning pituitary adenoma,"[Endocrine active pituitary adenoma, Secreting pituitary adenoma]",,,,,,,,,, +GARD:2139,Active,Orphanet,ORPHA:231568,Disorder,[Disease],Autosomal dominant generalized dystrophic epidermolysis bullosa,[Generalized DDEB],"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.",[131750],,,,,Dominant dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:21390,Active,Orphanet,ORPHA:314759,Group of disorders,[Category],Mixed functioning pituitary adenoma,[Mixed secreting pituitary adenoma],,,,,,,,,, +GARD:21391,Active,Orphanet,ORPHA:314769,Disorder,[Disease],Somatomammotropinoma,"[GH and PRL cosecreting pituitary adenoma, Growth hormone and prolactin cosecreting pituitary adenoma, Somatolactotropinoma, Somatoprolactinoma]","Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.",,,,,,,,, +GARD:21392,Active,Orphanet,ORPHA:314786,Subtype of disorder,[Histopathological subtype],Silent pituitary adenoma,,,,,,,,,,, +GARD:21393,Active,Orphanet,ORPHA:314790,Subtype of disorder,[Histopathological subtype],Null pituitary adenoma,,,,,,,,,,, +GARD:21394,Active,Orphanet,ORPHA:314889,Subtype of disorder,[Clinical subtype],Autosomal dominant proximal renal tubular acidosis,[AD pRTA],A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.,,,,,,,,, +GARD:21395,Active,Orphanet,ORPHA:314950,Disorder,[Disease],Primary hypereosinophilic syndrome,"[Clonal hypereosinophilic syndrome, HES-M, HES-N, Neoplastic hypereosinophilic syndrome, Primary HES]","A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.",,,,,,,,, +GARD:21396,Active,Orphanet,ORPHA:314962,Disorder,[Disease],Secondary hypereosinophilic syndrome,"[HES-R, Reactive hypereosinophilic syndrome, Secondary HES]","A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.",,,,,,,,, +GARD:21397,Active,Orphanet,ORPHA:314970,Subtype of disorder,[Clinical subtype],Lymphocytic hypereosinophilic syndrome,"[HES-L, Lymphocytic variant HES, Lymphoid HES]",,,,,,,,,, +GARD:21398,Active,Orphanet,ORPHA:315306,Subtype of disorder,[Clinical subtype],"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","[Classic 21-OHD CAH, salt wasting form]","A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.",,,,,,,,, +GARD:21399,Active,Orphanet,ORPHA:315311,Subtype of disorder,[Clinical subtype],"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","[Classic 21-OHD CAH, simple virilizing form]","A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.",,,,,,,,, +GARD:21400,Active,Orphanet,ORPHA:315350,Group of disorders,[Category],Autoimmune disease with skin involvement,,,,,,,,,,, +GARD:21401,Active,Orphanet,ORPHA:316226,Group of disorders,[Clinical group],Spastic ataxia,[SPAX],,,,,,,,,, +GARD:21402,Active,Orphanet,ORPHA:316235,Group of disorders,[Category],Autosomal dominant spastic ataxia,[AD-SPAX],,,,,,,,,, +GARD:21403,Active,Orphanet,ORPHA:316240,Group of disorders,[Category],Autosomal recessive spastic ataxia,[AR-SPAX],,,,,,,,,, +GARD:21404,Active,Orphanet,ORPHA:316244,Group of disorders,[Category],Partial deletion of the short arm of chromosome 12,"[Partial deletion of chromosome 12p, Partial monosomy of chromosome 12p, Partial monosomy of the short arm of chromosome 12]",,,,,,,,,, +GARD:21405,Active,Orphanet,ORPHA:317416,Group of disorders,[Clinical group],T-B+ severe combined immunodeficiency,[T-B+ SCID],"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.",,,,,,,,, +GARD:21406,Active,Orphanet,ORPHA:317419,Group of disorders,[Clinical group],T-B- severe combined immunodeficiency,[T-B- SCID],"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.",,,,,,,,, +GARD:21407,Active,Orphanet,ORPHA:319192,Disorder,[Morphological anomaly],Diencephalic-mesencephalic junction dysplasia,,"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.",,,,,,,,, +GARD:21408,Active,Orphanet,ORPHA:319195,Disorder,[Disease],Chondroectodermal dysplasia with night blindness,,"Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.",,,,,,,,, +GARD:21409,Active,Orphanet,ORPHA:319205,Subtype of disorder,[Etiological subtype],Bilateral massive adrenal hemorrhage,"[BMAH, Bilateral adrenal hemorrhage]",,,,,,,,,, +GARD:2141,Active,Orphanet,ORPHA:79396,Disorder,[Disease],"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","[Autosomal dominant generalized EBS, severe form, Epidermolysis bullosa simplex herpetiformis, Epidermolysis bullosa simplex, Dowling-Meara type]","Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.",[131760],,,,,"Epidermolysis bullosa simplex, Dowling-Meara type",TRUE,FALSE,Active +GARD:21410,Active,Orphanet,ORPHA:319213,Disorder,[Disease],Lujo hemorrhagic fever,[Zambian hemorrhagic fever],"Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.",,,,,,,,, +GARD:21411,Active,Orphanet,ORPHA:319223,Disorder,[Disease],Argentine hemorrhagic fever,"[Argentinian hemorrhagic fever, Junin hemorrhagic fever]","A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.",,,,,,,,, +GARD:21412,Active,Orphanet,ORPHA:319229,Disorder,[Disease],Bolivian hemorrhagic fever,[Machupo hemorrhagic fever],"Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.",,,,,,,,, +GARD:21413,Active,Orphanet,ORPHA:319234,Disorder,[Disease],Venezuelan hemorrhagic fever,[Guanarito hemorrhagic fever],"Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.",,,,,,,,, +GARD:21414,Active,Orphanet,ORPHA:319239,Disorder,[Disease],Brazilian hemorrhagic fever,[Sabia hemorrhagic fever],"Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.",,,,,,,,, +GARD:21415,Active,Orphanet,ORPHA:319244,Disorder,[Disease],Chapare hemorrhagic fever,,"Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.",,,,,,,,, +GARD:21416,Active,Orphanet,ORPHA:319251,Disorder,[Disease],Rift valley fever,,"Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.",,,,,,,,, +GARD:21417,Active,Orphanet,ORPHA:319287,Subtype of disorder,[Histopathological subtype],Multilocular cystic renal neoplasm of low malignant potential,"[MCRCC, Multilocular clear cell adenocarcinoma, Multilocular clear cell carcinoma, Multilocular clear cell renal cell adenocarcinoma, Multilocular clear cell renal cell carcinoma, Multilocular cystic renal cell adenocarcinoma, Multilocular cystic renal cell carcinoma]","Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.",,,,,,,,, +GARD:21418,Active,Orphanet,ORPHA:319322,Disorder,[Disease],Mucinous tubular and spindle cell renal carcinoma,,"Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.",,,,,,,,, +GARD:21419,Active,Orphanet,ORPHA:319325,Disorder,[Disease],Tubulocystic renal cell carcinoma,,"Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (""bubble wrap-like"") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.",,,,,,,,, +GARD:21420,Active,Orphanet,ORPHA:319328,Group of disorders,[Category],Inherited renal cancer-predisposing syndrome,,,,,,,,,,, +GARD:21421,Active,Orphanet,ORPHA:319494,Group of disorders,[Clinical group],Familial nonmedullary thyroid carcinoma,,A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.,,,,,,,,, +GARD:21422,Active,Orphanet,ORPHA:319535,Group of disorders,[Category],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,[Autosomal recessive MSMD due to a complete deficiency],"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.",,,,,,,,, +GARD:21423,Active,Orphanet,ORPHA:319539,Group of disorders,[Category],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,[Autosomal recessive MSMD due to a partial deficiency],A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.,,,,,,,,, +GARD:21424,Active,Orphanet,ORPHA:319543,Group of disorders,[Category],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,[Autosomal dominant MSMD due to a partial deficiency],"A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).",,,,,,,,, +GARD:21425,Active,Orphanet,ORPHA:319589,Disorder,[Disease],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,"[Autosomal dominant MSMD due to partial IFNgammaR2 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency]","A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",,,,,,,,, +GARD:21426,Active,Orphanet,ORPHA:319667,Disorder,[Disease],Primary lymphoma of the conjunctiva,[Primary lymphoid conjunctival tumor],"Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.",,,,,,,,, +GARD:21427,Active,Orphanet,ORPHA:319719,Group of disorders,[Category],Autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21428,Active,Orphanet,ORPHA:320332,Group of disorders,[Clinical group],X-linked pure spastic paraplegia,,,,,,,,,,, +GARD:21429,Active,Orphanet,ORPHA:320335,Group of disorders,[Clinical group],Pure or complex hereditary spastic paraplegia,"[Pure or complex familial spastic paraplegia, Pure or complicated familial spastic paraplegia, Pure or complicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:2143,Active,Orphanet,ORPHA:79405,Disorder,[Disease],Junctional epidermolysis bullosa inversa,"[JEB inversa, JEB-I]","A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.",[226650],,,,,Junctional epidermolysis bullosa inversa,TRUE,FALSE,Active +GARD:21430,Active,Orphanet,ORPHA:320342,Group of disorders,[Clinical group],Pure or complex autosomal dominant spastic paraplegia,[Pure or complicated autosomal dominant spastic paraplegia],,,,,,,,,, +GARD:21431,Active,Orphanet,ORPHA:320346,Group of disorders,[Clinical group],Pure or complex autosomal recessive spastic paraplegia,[Pure or complicated autosomal recessive spastic paraplegia],,,,,,,,,, +GARD:21432,Active,Orphanet,ORPHA:320350,Group of disorders,[Clinical group],Pure or complex X-linked spastic paraplegia,[Pure or complicated X-linked spastic paraplegia],,,,,,,,,, +GARD:21433,Active,Orphanet,ORPHA:320360,Disorder,[Disease],MT-ATP6-related mitochondrial spastic paraplegia,"[Maternally-inherited SPG, Maternally-inherited spastic paraplegia]","MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.",,,,,,,,, +GARD:21434,Active,Orphanet,ORPHA:322126,Group of disorders,[Category],Genetic tumor of hematopoietic and lymphoid tissues,,,,,,,,,,, +GARD:21435,Active,Orphanet,ORPHA:324299,Disorder,[Disease],Multiple paragangliomas associated with polycythemia,"[Multiple paragangliomas associated with erythrocytosis, Paraganglioma-somatostatinoma-polycythemia syndrome]","A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.",,,,,,,,, +GARD:21436,Active,Orphanet,ORPHA:324307,Disorder,[Disease],Severe lateral tibial bowing with short stature,,"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.",,,,,,,,, +GARD:21437,Active,Orphanet,ORPHA:324313,Disorder,[Malformation syndrome],9p13 microdeletion syndrome,"[Del(9)(p13), Monosomy 9p13]","9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).",,,,,,,,, +GARD:21438,Active,Orphanet,ORPHA:324353,Disorder,[Morphological anomaly],Congenital achiasma,,"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.",,,,,,,,, +GARD:21439,Active,Orphanet,ORPHA:324364,Disorder,[Disease],Mixed sclerosing bone dystrophy with extra-skeletal manifestations,,"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.",,,,,,,,, +GARD:21440,Active,Orphanet,ORPHA:324381,Disorder,[Disease],Hereditary inclusion body myopathy type 4,[HIBM4],"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.",,,,,,,,, +GARD:21441,Active,Orphanet,ORPHA:324416,Disorder,[Malformation syndrome],Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,,"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.",,,,,,,,, +GARD:21442,Active,Orphanet,ORPHA:324525,Disorder,[Disease],Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,"[Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation, Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation]","A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.",,,,,,,,, +GARD:21443,Active,Orphanet,ORPHA:324540,Disorder,[Malformation syndrome],Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,"[Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome, Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.",,,,,,,,, +GARD:21444,Active,Orphanet,ORPHA:324575,Disorder,[Disease],Hyperinsulinism due to HNF1A deficiency,[Hyperinsulinemic hypoglycemia due to HNF1A deficiency],"Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.",,,,,,,,, +GARD:21445,Active,Orphanet,ORPHA:324581,Disorder,[Disease],Benign Samaritan congenital myopathy,,"Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.",,,,,,,,, +GARD:21446,Active,Orphanet,ORPHA:324585,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,[Autosomal dominant intermediate CMT disease with neuropathic pain],"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.",,,,,,,,, +GARD:21447,Active,Orphanet,ORPHA:324611,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,[CMT2 due to KIF5A mutation],"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.",,,,,,,,, +GARD:21448,Active,Orphanet,ORPHA:324632,Disorder,[Disease],Hendra virus infection,,"Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.",,,,,,,,, +GARD:21449,Active,Orphanet,ORPHA:324648,Disorder,[Disease],Invasive non-typhoidal salmonellosis,"[Invasive non-typhoidal salmonella disease, iNTS disease]","Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.",,,,,,,,, +GARD:21450,Active,Orphanet,ORPHA:324761,Group of disorders,[Clinical group],Microcephalic primordial dwarfism,,,,,,,,,,, +GARD:21451,Active,Orphanet,ORPHA:324764,Group of disorders,[Clinical group],Trichorhinophalangeal syndrome,,,,,,,,,,, +GARD:21452,Active,Orphanet,ORPHA:324767,Group of disorders,[Category],Non-familial rare disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:21453,Active,Orphanet,ORPHA:324924,Group of disorders,[Category],Hereditary periodic fever syndrome,,,,,,,,,,, +GARD:21454,Active,Orphanet,ORPHA:324927,Group of disorders,[Category],Pyogenic autoinflammatory syndrome,,,,,,,,,,, +GARD:21455,Active,Orphanet,ORPHA:324930,Group of disorders,[Category],Granulomatous autoinflammatory syndrome,,,,,,,,,,, +GARD:21456,Active,Orphanet,ORPHA:324933,Group of disorders,[Category],Mixed autoinflammatory and autoimmune syndrome,,"Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.",,,,,,,,, +GARD:21457,Active,Orphanet,ORPHA:324936,Group of disorders,[Category],Unclassified autoinflammatory syndrome,,,,,,,,,,, +GARD:21458,Active,Orphanet,ORPHA:324939,Group of disorders,[Category],Periodic fever syndrome of childhood,,,,,,,,,,, +GARD:21459,Active,Orphanet,ORPHA:324942,Group of disorders,[Category],Pyogenic autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:2146,Active,Orphanet,ORPHA:79400,Disorder,[Disease],Localized epidermolysis bullosa simplex,"[EBS-loc, Epidermolysis bullosa simplex of palms and soles, Epidermolysis bullosa simplex, Weber-Cockayne type, Localized EBS]","Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.",[131800],,,,,"Epidermolysis bullosa simplex, localized",TRUE,FALSE,Active +GARD:21460,Active,Orphanet,ORPHA:324950,Group of disorders,[Category],Granulomatous autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21461,Active,Orphanet,ORPHA:324953,Group of disorders,[Category],Unclassified autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21462,Active,Orphanet,ORPHA:324960,Group of disorders,[Category],Unexplained periodic fever syndrome of childhood,,,,,,,,,,, +GARD:21463,Active,Orphanet,ORPHA:325055,Group of disorders,[Category],"46,XX disorder of gonadal development",,,,,,,,,,, +GARD:21464,Active,Orphanet,ORPHA:325061,Group of disorders,[Category],"46,XX disorder of sex development induced by fetoplacental androgens excess","[46,XX DSD induced by fetoplacental androgens excess]",,,,,,,,,, +GARD:21465,Active,Orphanet,ORPHA:325093,Group of disorders,[Clinical group],"46,XX disorder of sex development induced by endogenous maternal-derived androgen","[46,XX DSD induced by endogenous maternal-derived androgen]",,,,,,,,,, +GARD:21466,Active,Orphanet,ORPHA:325099,Group of disorders,[Clinical group],"46,XX disorder of sex development induced by exogenous maternal-derived androgen","[46,XX DSD induced by exogenous maternal-derived androgen]",,,,,,,,,, +GARD:21467,Active,Orphanet,ORPHA:325109,Group of disorders,[Category],"Syndrome with 46,XX disorder of sex development","[Syndrome with 46,XX DSD]",,,,,,,,,, +GARD:21468,Active,Orphanet,ORPHA:325118,Group of disorders,[Category],"46,XY disorder of gonadal development",,,,,,,,,,, +GARD:21469,Active,Orphanet,ORPHA:325345,Disorder,[Disease],"46,XY ovotesticular disorder of sex development","[46,XY ovotesticular DSD]","46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.",,,,,,,,, +GARD:2147,Active,Orphanet,ORPHA:79399,Disorder,[Disease],"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","[Autosomal dominant generalized EBS, intermediate form, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex, Köbner type]","Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.",[131900],,,,,"Epidermolysis bullosa simplex, generalized",TRUE,FALSE,Active +GARD:21470,Active,Orphanet,ORPHA:325351,Group of disorders,[Category],"46,XY disorder of sex development of endocrine origin","[46,XY DSD of endocrine origin]",,,,,,,,,, +GARD:21471,Active,Orphanet,ORPHA:325357,Group of disorders,[Category],"46,XY disorder of sex development due to impaired androgen production","[46,XY DSD due to impaired androgen production]",,,,,,,,,, +GARD:21472,Active,Orphanet,ORPHA:325511,Group of disorders,[Category],"46,XY disorder of sex development due to a cholesterol synthesis defect","[46,XY DSD due to a cholesterol synthesis defect]",,,,,,,,,, +GARD:21473,Active,Orphanet,ORPHA:325524,Subtype of disorder,[Clinical subtype],Classic congenital lipoid adrenal hyperplasia due to STAR deficency,[Classic CLAH],,,,,,,,,, +GARD:21474,Active,Orphanet,ORPHA:325529,Subtype of disorder,[Clinical subtype],Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,,,,,,,,,,, +GARD:21475,Active,Orphanet,ORPHA:325537,Group of disorders,[Category],"46,XY disorder of sex development induced by maternal exposure to endocrine disruptors","[46,XY DSD induced by maternal-exposure to endocrine disruptors]",,,,,,,,,, +GARD:21476,Active,Orphanet,ORPHA:325546,Group of disorders,[Category],Sex chromosome disorder of sex development,[Sex chromosome DSD],,,,,,,,,, +GARD:21477,Active,Orphanet,ORPHA:325620,Group of disorders,[Category],Disorder of sex development of gynecological interest,[DSD of gynecological interest],,,,,,,,,, +GARD:21478,Active,Orphanet,ORPHA:325632,Group of disorders,[Category],"46,XY disorder of sex development of gynecological interest","[46,XY DSD of gynecological interest]",,,,,,,,,, +GARD:21479,Active,Orphanet,ORPHA:325638,Group of disorders,[Category],Syndrome with disorder of sex development of gynecological interest,[Syndrome with DSD of gynecological interest],,,,,,,,,, +GARD:2148,Active,Orphanet,ORPHA:79401,Disorder,[Disease],PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,[PLEC-related intermediate EBS without extracutaneous involvement],"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.",[131950],,,,,"Epidermolysis bullosa simplex, Ogna type",TRUE,FALSE,Active +GARD:21480,Active,Orphanet,ORPHA:325665,Group of disorders,[Category],Genetic disorder of sex development of gynecological interest,[Genetic DSD of gynecological interest],,,,,,,,,, +GARD:21481,Active,Orphanet,ORPHA:325690,Group of disorders,[Category],Genetic disorder of sex development,[Genetic DSD],,,,,,,,,, +GARD:21482,Active,Orphanet,ORPHA:325697,Group of disorders,[Category],"Genetic 46,XX disorder of sex development","[Genetic 46,XX DSD]",,,,,,,,,, +GARD:21483,Active,Orphanet,ORPHA:325706,Group of disorders,[Category],"Genetic 46,XY disorder of sex development","[Genetic 46,XY DSD]",,,,,,,,,, +GARD:21484,Active,Orphanet,ORPHA:325713,Group of disorders,[Category],"Genetic 46,XY disorder of sex development of endocrine origin","[Genetic 46,XY DSD of endocrine origin]",,,,,,,,,, +GARD:21485,Active,Orphanet,ORPHA:329217,Disorder,[Disease],Cerebral sinovenous thrombosis,[CSVT],"A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.",,,,,,,,, +GARD:21486,Active,Orphanet,ORPHA:329249,Subtype of disorder,[Etiological subtype],Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,,"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.",,,,,,,,, +GARD:21487,Active,Orphanet,ORPHA:329319,Disorder,[Disease],Thrombocythemia with distal limb defects,"[Familial thrombocytosis with transverse limb defect, Hereditary thrombocytosis with transverse limb defect]","Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.",,,,,,,,, +GARD:21488,Active,Orphanet,ORPHA:329324,Disorder,[Disease],Inverse Klippel-Trénaunay syndrome,[Cutaneous hemangioma with muscle or bone atrophy],,,,,,,,,, +GARD:21489,Active,Orphanet,ORPHA:329329,Disorder,[Malformation syndrome],Autosomal recessive frontotemporal pachygyria,,"A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.",,,,,,,,, +GARD:21490,Active,Orphanet,ORPHA:329469,Subtype of disorder,[Clinical subtype],Acute megakaryoblastic leukemia without Down syndrome,[Non-DS-AMKL],,,,,,,,,, +GARD:21491,Active,Orphanet,ORPHA:329475,Disorder,[Disease],Spastic paraplegia-Paget disease of bone syndrome,,"Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.",,,,,,,,, +GARD:21492,Active,Orphanet,ORPHA:329478,Disorder,[Disease],Adult-onset distal myopathy due to VCP mutation,,"A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.",,,,,,,,, +GARD:21493,Active,Orphanet,ORPHA:329813,Disorder,[Malformation syndrome],Mosaic genome-wide paternal uniparental disomy,"[Androgenetic/biparental mosaicism, Genome-wide paternal uniparental disomy mosaicism, Mosaic genome-wide paternal UPD]","A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.",,,,,,,,, +GARD:21494,Active,Orphanet,ORPHA:329874,Disorder,[Disease],Idiopathic giant cell myocarditis,[IGCM],"A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.",,,,,,,,, +GARD:21495,Active,Orphanet,ORPHA:329883,Disorder,[Disease],Non-hypoproteinemic hypertrophic gastropathy,[Hypertrophic gastropathy without hypoproteinemia],"Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.",,,,,,,,, +GARD:21496,Active,Orphanet,ORPHA:329888,Group of disorders,[Category],Juvenile idiopathic inflammatory myopathy,[JIIM],,,,,,,,,, +GARD:21497,Active,Orphanet,ORPHA:329894,Disorder,[Disease],Juvenile overlap myositis,,"A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.",,,,,,,,, +GARD:21498,Active,Orphanet,ORPHA:329942,Disorder,[Disease],Transient neonatal multiple acyl-CoA dehydrogenase deficiency,"[Transient neonatal MAD deficiency, Transient neonatal MADD, Transient neonatal glutaric acidemia type 2, Transient neonatal glutaric aciduria type 2]","Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.",,,,,,,,, +GARD:21499,Active,Orphanet,ORPHA:329967,Disorder,[Disease],Intermittent hydrarthrosis,,"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.",,,,,,,,, +GARD:215,Active,Orphanet,ORPHA:1768,Disorder,[Malformation syndrome],Familial caudal dysgenesis,[Rudd-Klimek syndrome],"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.",,,,,,Familial caudal dysgenesis,TRUE,FALSE,Active +GARD:2150,Active,Orphanet,ORPHA:303,Group of disorders,[Clinical group],Dystrophic epidermolysis bullosa,"[DEB, Dermolytic epidermolysis bullosa, Epidermolysis bullosa dystrophica]","A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.",,,,,,Dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:21500,Active,Orphanet,ORPHA:329977,Subtype of disorder,[Clinical subtype],Classic neuroendocrine tumor of appendix,"[Classic appendiceal neuroendocrine tumor, Classic appendix neuroendocrine tumor]","A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.",,,,,,,,, +GARD:21501,Active,Orphanet,ORPHA:330001,Disorder,[Disease],Wild type ATTR amyloidosis,"[ATTRwt amyloidosis, ATTRwt-related amyloidosis, Senile systemic amyloidosis, Wild type ATTR-related amyloidosis]","A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).",,,,,,,,, +GARD:21502,Active,Orphanet,ORPHA:330012,Disorder,[Particular clinical situation in a disease or syndrome],High altitude pulmonary edema,,"A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.",,,,,,,,, +GARD:21503,Active,Orphanet,ORPHA:330015,Disorder,[Disease],Lead poisoning,"[Lead intoxication, Plumbism, Saturnism]","Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.",,,,,,,,, +GARD:21504,Active,Orphanet,ORPHA:330029,Disorder,[Disease],Hypotrichosis-deafness syndrome,[Hypotrichosis-hearing loss syndrome],"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.",,,,,,,,, +GARD:21505,Active,Orphanet,ORPHA:330032,Disorder,[Disease],Hemoglobin Lepore-beta-thalassemia syndrome,"[HbLepore-beta-thalassemia syndrome, Lepore-beta-thalassemia syndrome]","A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.",,,,,,,,, +GARD:21506,Active,Orphanet,ORPHA:330064,Disorder,[Disease],Chronic actinic dermatitis,"[Actinic reticuloid, Chronic photosensitivity dermatitis]","Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.",,,,,,,,, +GARD:21507,Active,Orphanet,ORPHA:330206,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"[Genetic MCA, Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)]",,,,,,,,,, +GARD:21508,Active,Orphanet,ORPHA:331184,Group of disorders,[Category],Constitutional neutropenia with extra-hematopoietic manifestations,,,,,,,,,,, +GARD:21509,Active,Orphanet,ORPHA:331193,Group of disorders,[Category],Other immunodeficiency syndromes due to defects in innate immunity,,,,,,,,,,, +GARD:2151,Legacy,GARD,,,,,,,,,,,,Junctional epidermolysis bullosa generalized intermediate,TRUE,FALSE,Active +GARD:21510,Active,Orphanet,ORPHA:331217,Group of disorders,[Category],Syndrome with combined immunodeficiency,,,,,,,,,,, +GARD:21511,Active,Orphanet,ORPHA:331220,Group of disorders,[Category],Immunodeficiency due to absence of thymus,,,,,,,,,,, +GARD:21512,Active,Orphanet,ORPHA:331232,Group of disorders,[Category],Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells,,,,,,,,,,, +GARD:21513,Active,Orphanet,ORPHA:331240,Group of disorders,[Category],Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells,,,,,,,,,,, +GARD:21514,Active,Orphanet,ORPHA:331244,Group of disorders,[Category],Other immunodeficiency syndrome with predominantly antibody defects,,,,,,,,,,, +GARD:21515,Active,Orphanet,ORPHA:331249,Group of disorders,[Category],Immunodeficiency syndrome with hypopigmentation,,,,,,,,,,, +GARD:21516,Active,Orphanet,ORPHA:352301,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis",,,,,,,,,,, +GARD:21517,Active,Orphanet,ORPHA:352306,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement",,,,,,,,,,, +GARD:21518,Active,Orphanet,ORPHA:352309,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement",,,,,,,,,,, +GARD:21519,Active,Orphanet,ORPHA:352312,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement",,,,,,,,,,, +GARD:2152,Active,Orphanet,ORPHA:305,Group of disorders,[Clinical group],Junctional epidermolysis bullosa,"[Epidermolysis bullosa atrophicans, JEB]","A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.",,,,,,Junctional epidermolysis bullosa,TRUE,FALSE,Active +GARD:21520,Active,Orphanet,ORPHA:352456,Group of disorders,[Category],Mitochondrial DNA maintenance syndrome,[mtDNA maintenance syndrome],,,,,,,,,, +GARD:21521,Active,Orphanet,ORPHA:352530,Disorder,[Disease],Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,[Autosomal recessive intellectual disability due to TRAPPC9 deficiency],"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.",,,,,,,,, +GARD:21522,Active,Orphanet,ORPHA:352587,Disorder,[Disease],Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,[Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome],"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.",,,,,,,,, +GARD:21523,Active,Orphanet,ORPHA:352629,Disorder,[Disease],16q24.1 microdeletion syndrome,"[Del(16)(q24.1), Monosomy 16q24.1]","A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).",,,,,,,,, +GARD:21524,Active,Orphanet,ORPHA:352636,Disorder,[Disease],Phalangeal microgeodic syndrome,[Phalangeal osteolysis],"A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.",,,,,,,,, +GARD:21525,Active,Orphanet,ORPHA:352641,Disorder,[Disease],Autosomal recessive cerebellar ataxia with late-onset spasticity,[Autosomal recessive cerebellar ataxia due to GBA2 deficiency],"A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.",,,,,,,,, +GARD:21526,Active,Orphanet,ORPHA:352665,Subtype of disorder,[Etiological subtype],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,"[9q21.3 microdeletion syndrome, Del(9)(q21.3)]",,,,,,,,,, +GARD:21527,Active,Orphanet,ORPHA:352723,Disorder,[Disease],Attenuated Chédiak-Higashi syndrome,[Atypical Chédiak-Higashi syndrome],"A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.",,,,,,,,, +GARD:21528,Active,Orphanet,ORPHA:352728,Group of disorders,[Category],Disorder of melanin metabolism,,,,,,,,,,, +GARD:21529,Active,Orphanet,ORPHA:352734,Subtype of disorder,[Clinical subtype],Minimal pigment oculocutaneous albinism type 1,"[MP OCA type 1, OCA1-MP]","An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.",,,,,,,,, +GARD:2153,Active,Orphanet,ORPHA:79404,Disorder,[Disease],Severe generalized junctional epidermolysis bullosa,"[Epidermolysis bullosa letalis, JEB-H, Junctional epidermolysis bullosa generalisata gravis, Junctional epidermolysis bullosa, Herlitz type, Junctional epidermolysis bullosa, Herlitz-Pearson type, Severe generalized JEB]","A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.",[226700],,,,,"Junctional epidermolysis bullosa, Herlitz type",TRUE,FALSE,Active +GARD:21530,Active,Orphanet,ORPHA:353334,Disorder,[Morphological anomaly],Congenital retinal arteriovenous communication,"[Congenital arteriovenous anastomoses of the retina, Congenital arteriovenous communication of the retina, Congenital retinal arteriovenous anastomoses]","A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.",,,,,,,,, +GARD:21531,Active,Orphanet,ORPHA:353344,Disorder,[Disease],Idiopathic macular telangiectasia type 1,"[Aneurysmal telangiectasia, Visible and exudative idiopathic juxtafoveolar retinal telangiectasis]","Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.",,,,,,,,, +GARD:21532,Active,Orphanet,ORPHA:353351,Disorder,[Disease],Idiopathic macular telangiectasia type 3,[Occlusive idiopathic juxtafoveolar retinal telangiectasis],"Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.",,,,,,,,, +GARD:21533,Active,Orphanet,ORPHA:353356,Disorder,[Disease],Vasoproliferative tumor of the retina,"[Retinal vasoproliferative tumor, VPTR, Vasoproliferative tumor of the ocular fundus]","Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.",,,,,,,,, +GARD:21534,Active,Orphanet,ORPHA:356947,Disorder,[Malformation syndrome],3q26q27 microdeletion syndrome,"[Del(3)(q26q27), Monosomy 3q26q27]","3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.",,,,,,,,, +GARD:21535,Active,Orphanet,ORPHA:357107,Subtype of disorder,[Clinical subtype],Arterial thoracic outlet syndrome,"[ATOS, Arterial TOS, Arterial cervical rib syndrome, Arterial costoclavicular syndrome, Arterial hyperabduction syndrome, Arterial scalenus anticus syndrome, Arterial thoracic outlet compression syndrome]",A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.,,,,,,,,, +GARD:21536,Active,Orphanet,ORPHA:357131,Subtype of disorder,[Clinical subtype],Venous thoracic outlet syndrome,"[Effort subclavian vein thrombosis, Paget-Schrotter disease, VTOS, Venous TOS, Venous cervical rib syndrome, Venous costoclavicular syndrome, Venous hyperabduction syndrome, Venous scalenus anticus syndrome, Venous thoracic outlet compression syndrome]",Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.,,,,,,,,, +GARD:21537,Active,Orphanet,ORPHA:357220,Disorder,[Disease],Primary essential cutis verticis gyrata,,"Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.",,,,,,,,, +GARD:21538,Active,Orphanet,ORPHA:357225,Disorder,[Disease],Primary non-essential cutis verticis gyrata,,"Primary non-essential cutis verticis gyrata is a rare, genetic, dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).",,,,,,,,, +GARD:21539,Active,Orphanet,ORPHA:357502,Group of disorders,[Clinical group],Idiopathic nephrotic syndrome,,"A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.",,,,,,,,, +GARD:21540,Active,Orphanet,ORPHA:357506,Group of disorders,[Category],Genetic non-syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:21541,Active,Orphanet,ORPHA:363189,Group of disorders,[Category],Congenital anomaly of the great veins,,,,,,,,,,, +GARD:21542,Active,Orphanet,ORPHA:363203,Group of disorders,[Category],Ring chromosome,,,,,,,,,,, +GARD:21543,Active,Orphanet,ORPHA:363245,Group of disorders,[Category],Genetic progeroid syndrome,,,,,,,,,,, +GARD:21544,Active,Orphanet,ORPHA:363250,Group of disorders,[Category],Ciliopathy,,,,,,,,,,, +GARD:21545,Active,Orphanet,ORPHA:363294,Group of disorders,[Category],Genetic syndromic Pierre Robin syndrome,,,,,,,,,,, +GARD:21546,Active,Orphanet,ORPHA:363300,Group of disorders,[Category],Genetic intractable diarrhea of infancy,,,,,,,,,,, +GARD:21547,Active,Orphanet,ORPHA:363306,Group of disorders,[Category],Genetic intestinal disease due to fat malabsorption,,,,,,,,,,, +GARD:21548,Active,Orphanet,ORPHA:363314,Group of disorders,[Category],Genetic intestinal polyposis,[Familial intestinal polyposis],,,,,,,,,, +GARD:21549,Active,Orphanet,ORPHA:363472,Group of disorders,[Category],Tumor of testis and paratestis,[Testicular and paratesticular tumor],,,,,,,,,, +GARD:2155,Active,Orphanet,ORPHA:79410,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, pretibial form","[DEB-Pt, Localized DEB, pretibial form]","A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.",[131850],,,,,Pretibial epidermolysis bullosa,TRUE,FALSE,Active +GARD:21550,Active,Orphanet,ORPHA:363478,Disorder,[Disease],Paratesticular adenocarcinoma,[Adenocarcinoma of the paratestis],"A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.",,,,,,,,, +GARD:21551,Active,Orphanet,ORPHA:363489,Disorder,[Disease],Sex cord-stromal tumor of testis,[Testicular sex cord-stromal tumor],"A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors.",,,,,,,,, +GARD:21552,Active,Orphanet,ORPHA:363549,Disorder,[Disease],Acute encephalopathy with biphasic seizures and late reduced diffusion,"[AESD, AIEF, Acute infantile encephalopathy predominantly affecting the frontal lobes]","A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.",,,,,,,,, +GARD:21553,Active,Orphanet,ORPHA:363567,Group of disorders,[Clinical group],Acute encephalopathy with inflammation-mediated status epilepticus,,,,,,,,,,, +GARD:21554,Active,Orphanet,ORPHA:363582,Group of disorders,[Category],Gonadal germ cell tumor,,,,,,,,,,, +GARD:21555,Active,Orphanet,ORPHA:363618,Disorder,[Disease],LMNA-related cardiocutaneous progeria syndrome,[LCPS],"LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.",,,,,,,,, +GARD:21556,Active,Orphanet,ORPHA:363659,Disorder,[Malformation syndrome],20q11.2 microduplication syndrome,[Dup(20)(q11.2)],"20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.",,,,,,,,, +GARD:21557,Active,Orphanet,ORPHA:363680,Disorder,[Malformation syndrome],2p13.2 microdeletion syndrome,[Del(2)(p13.2)],"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.",,,,,,,,, +GARD:21558,Active,Orphanet,ORPHA:363746,Disorder,[Disease],Balint syndrome,"[Balint-Holmes syndrome, Optic ataxia-gaze apraxia-simultanagnosia syndrome]","Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.",,,,,,,,, +GARD:21559,Active,Orphanet,ORPHA:363965,Subtype of disorder,[Etiological subtype],Koolen-De Vries syndrome due to a point mutation,,,,,,,,,,, +GARD:2156,Legacy,GARD,,,,,,,,,,,,"Palmoplantar keratoderma, epidermolytic",TRUE,FALSE,Retired +GARD:21560,Active,Orphanet,ORPHA:363969,Disorder,[Disease],Autosomal recessive cerebral atrophy,,"A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.",,,,,,,,, +GARD:21561,Active,Orphanet,ORPHA:364013,Subtype of disorder,[Clinical subtype],Immune hydrops fetalis,"[IHF, Immune HF, Immune fetal edema, Immune fetal hydrops]","Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.",,,,,,,,, +GARD:21562,Active,Orphanet,ORPHA:364033,Disorder,[Disease],Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,"[Systemic EBV+ T-cell LPD of childhood, Systemic EBV-positive T-cell lymphoproliferative disease of childhood]","A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.",,,,,,,,, +GARD:21563,Active,Orphanet,ORPHA:364039,Disorder,[Disease],Hydroa vacciniforme-like lymphoma,"[Angiocentric cutaneous T-cell lymphoma of childhood, HVLL, Hydroa-like cutaneous T-cell lymphoma]","A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.",,,,,,,,, +GARD:21564,Active,Orphanet,ORPHA:364043,Disorder,[Disease],ALK-positive large B-cell lymphoma,"[ALK+ LBCL, ALK+ large B-cell lymphoma]","A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.",,,,,,,,, +GARD:21565,Active,Orphanet,ORPHA:364055,Disorder,[Disease],Severe early-childhood-onset retinal dystrophy,"[EOSRD, Early-onset severe retinal dystrophy, SECORD]","Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.",,,,,,,,, +GARD:21566,Active,Orphanet,ORPHA:364198,Disorder,[Morphological anomaly],Bipartite talus,,"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.",,,,,,,,, +GARD:21567,Active,Orphanet,ORPHA:364526,Group of disorders,[Category],Primary bone dysplasia,"[Primary osteodysplasia, Primary skeletal dysplasia]",,,,,,,,,, +GARD:21568,Active,Orphanet,ORPHA:364531,Group of disorders,[Category],"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","[Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments, Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments]",,,,,,,,,, +GARD:21569,Active,Orphanet,ORPHA:364536,Group of disorders,[Category],Primary bone dysplasia with micromelia,"[Primary osteodysplasia with micromelia, Primary skeletal dysplasia with micromelia]",,,,,,,,,, +GARD:21570,Active,Orphanet,ORPHA:364541,Group of disorders,[Clinical group],Otopalatodigital syndrome spectrum disorder,"[OPD spectrum disorder, OPSD]","Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.",,,,,,,,, +GARD:21571,Active,Orphanet,ORPHA:364559,Group of disorders,[Category],Dysostosis,,,,,,,,,,, +GARD:21572,Active,Orphanet,ORPHA:364568,Group of disorders,[Category],Dysostosis with limb anomaly as a major feature,,,,,,,,,,, +GARD:21573,Active,Orphanet,ORPHA:364571,Group of disorders,[Category],Dysostosis with limb and face anomalies as a major feature,,,,,,,,,,, +GARD:21574,Active,Orphanet,ORPHA:364574,Group of disorders,[Clinical group],Acrofacial dysostosis,,,,,,,,,,, +GARD:21575,Active,Orphanet,ORPHA:364803,Group of disorders,[Category],Rare bone disease related to a common gene or pathway defect,,,,,,,,,,, +GARD:21576,Active,Orphanet,ORPHA:364817,Group of disorders,[Category],Aggrecan-related bone disorder,,,,,,,,,,, +GARD:21577,Active,Orphanet,ORPHA:364820,Group of disorders,[Category],TRPV4-related bone disorder,,,,,,,,,,, +GARD:21578,Active,Orphanet,ORPHA:365563,Group of disorders,[Clinical group],Primary short bowel syndrome,,,,,,,,,,, +GARD:21579,Active,Orphanet,ORPHA:369847,Disorder,[Disease],Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.",,,,,,,,, +GARD:21580,Active,Orphanet,ORPHA:369873,Subtype of disorder,[Etiological subtype],Obesity due to SIM1 deficiency,,"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.",,,,,,,,, +GARD:21581,Active,Orphanet,ORPHA:369881,Disorder,[Malformation syndrome],2p21 microdeletion syndrome without cystinuria,[Del(2)(p21) without cystinuria],"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.",,,,,,,,, +GARD:21582,Active,Orphanet,ORPHA:369886,Group of disorders,[Clinical group],Homozygous 2p21 microdeletion syndrome,[2p21 contiguous gene deletion syndrome],,,,,,,,,, +GARD:21583,Active,Orphanet,ORPHA:369950,Disorder,[Disease],Intellectual disability-seizures-macrocephaly-obesity syndrome,[Der(8)t(8;12)],"Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.",,,,,,,,, +GARD:21584,Active,Orphanet,ORPHA:369979,Disorder,[Malformation syndrome],Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,,"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.",,,,,,,,, +GARD:21585,Active,Orphanet,ORPHA:370010,Disorder,[Malformation syndrome],Intellectual disability-facial dysmorphism-hand anomalies syndrome,,"Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.",,,,,,,,, +GARD:21586,Active,Orphanet,ORPHA:370015,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Isidor type",,"Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.",,,,,,,,, +GARD:21587,Active,Orphanet,ORPHA:370019,Disorder,[Disease],"Spondylometaphyseal dysplasia, Czarny-Ratajczak type",,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.",,,,,,,,, +GARD:21588,Active,Orphanet,ORPHA:370026,Disorder,[Disease],Acute myeloid leukemia with t(8;16)(p11;p13) translocation,[AML with t(8;16)(p11;p13) translocation],"A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.",,,,,,,,, +GARD:21589,Active,Orphanet,ORPHA:370034,Subtype of disorder,[Clinical subtype],Familial syringomyelia,,,,,,,,,,, +GARD:2159,Legacy,GARD,,,,,,,,,,,,Benign familial neonatal epilepsy,TRUE,FALSE,Active +GARD:21590,Active,Orphanet,ORPHA:370039,Disorder,[Disease],Angora hair nevus,[Schauder syndrome],"A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.",,,,,,,,, +GARD:21591,Active,Orphanet,ORPHA:370046,Disorder,[Disease],Didymosis aplasticosebacea,[Aplasia cutis congenita-nevus sebaceus syndrome],Didymosis aplasticosebacea is a rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.,,,,,,,,, +GARD:21592,Active,Orphanet,ORPHA:370052,Disorder,[Disease],SCALP syndrome,"[Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome, Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome]","SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.",,,,,,,,, +GARD:21593,Active,Orphanet,ORPHA:370059,Disorder,[Disease],NEVADA syndrome,[Nevus epidermicus verrucosus with angiodysplasia and aneurysms],"A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.",,,,,,,,, +GARD:21594,Active,Orphanet,ORPHA:370068,Group of disorders,[Clinical group],Fetal anticonvulsant syndrome,"[FACS, Fetal AEDS, Fetal antiepileptic drug syndrome]",,,,,,,,,, +GARD:21595,Active,Orphanet,ORPHA:370076,Disorder,[Malformation syndrome],Fetal carbamazepine syndrome,,"Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.",,,,,,,,, +GARD:21596,Active,Orphanet,ORPHA:370106,Group of disorders,[Category],Rare disorder with dystonia and other neurologic or systemic manifestation,,,,,,,,,,, +GARD:21597,Active,Orphanet,ORPHA:370109,Disorder,[Disease],Ataxia-telangiectasia variant,[v-AT],"A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.",,,,,,,,, +GARD:21598,Active,Orphanet,ORPHA:370127,Disorder,[Disease],Medich giant platelet syndrome,[Medich macrothrombocytopenia],Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.,,,,,,,,, +GARD:21599,Active,Orphanet,ORPHA:370930,Disorder,[Disease],XYLT1-CDG,,"XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.",,,,,,,,, +GARD:216,Active,Orphanet,ORPHA:1323,Disorder,[Malformation syndrome],Camptodactyly-joint contractures-facial skeletal defects syndrome,[Rozin camptodactyly syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).",[602612],,,,,Rozin Hertz Goodman syndrome,TRUE,FALSE,Active +GARD:2160,Legacy,GARD,,,,,,,,,,,,Epilepsy benign neonatal recessive form,TRUE,FALSE,Retired +GARD:21600,Active,Orphanet,ORPHA:371007,Disorder,[Disease],Congenital muscular dystrophy with hyperlaxity,[CMDH],"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.",,,,,,,,, +GARD:21601,Active,Orphanet,ORPHA:371024,Group of disorders,[Category],Qualitative or quantitative defects of alpha-dystroglycan,"[Alpha-dystroglycanopathy, Dystroglycanopathy]",,,,,,,,,, +GARD:21602,Active,Orphanet,ORPHA:371040,Group of disorders,[Category],Primary qualitative or quantitative defects of alpha-dystroglycan,"[Primary alpha-dystroglycanopathy, Primary dystroglycanopathy]",,,,,,,,,, +GARD:21603,Active,Orphanet,ORPHA:371047,Group of disorders,[Category],Congenital disorder of glycosylation with neurological involvement,[CDG with neurological involvement],,,,,,,,,, +GARD:21604,Active,Orphanet,ORPHA:371071,Group of disorders,[Category],Congenital disorder of glycosylation with epilepsy as a major feature,[CDG with epilepsy as a major feature],,,,,,,,,, +GARD:21605,Active,Orphanet,ORPHA:371157,Group of disorders,[Category],Congenital disorder of glycosylation with hepatic involvement,[CDG with hepatic involvement],,,,,,,,,, +GARD:21606,Active,Orphanet,ORPHA:371176,Group of disorders,[Category],Congenital disorder of glycosylation with dilated cardiomyopathy,[CDG with dilated cardiomyopathy],,,,,,,,,, +GARD:21607,Active,Orphanet,ORPHA:371183,Group of disorders,[Category],Congenital disorder of glycosylation with cardiac malformation as a major feature,[CDG with cardiac malformation as a major feature],,,,,,,,,, +GARD:21608,Active,Orphanet,ORPHA:371188,Group of disorders,[Category],Congenital disorder of glycosylation with intestinal involvement,[CDG with intestinal involvement],,,,,,,,,, +GARD:21609,Active,Orphanet,ORPHA:371195,Group of disorders,[Category],Congenital disorder of glycosylation-related bone disorder,[CDG-related bone disorder],,,,,,,,,, +GARD:21610,Active,Orphanet,ORPHA:371200,Group of disorders,[Category],Congenital disorder of glycosylation with skin involvement,[CDG with skin involvement],,,,,,,,,, +GARD:21611,Active,Orphanet,ORPHA:371207,Group of disorders,[Category],Congenital disorder of glycosylation with nephropathy as a major feature,[CDG with nephropathy as a major feature],,,,,,,,,, +GARD:21612,Active,Orphanet,ORPHA:371212,Group of disorders,[Category],Congenital disorder of glycosylation with deafness as a major feature,"[CDG with deafness as a major feature, CDG with hearing loss as a major feature, Congenital disorder of glycosylation with hearing loss as a major feature]",,,,,,,,,, +GARD:21613,Active,Orphanet,ORPHA:371433,Group of disorders,[Category],Genetic periodic paralysis,,,,,,,,,,, +GARD:21614,Active,Orphanet,ORPHA:371436,Group of disorders,[Category],Genetic neurovascular malformation,,,,,,,,,,, +GARD:21615,Active,Orphanet,ORPHA:371442,Group of disorders,[Category],Sphingolipidosis with epilepsy,,,,,,,,,,, +GARD:21616,Active,Orphanet,ORPHA:371445,Group of disorders,[Category],Genetic syndromic esophageal malformation,,,,,,,,,,, +GARD:21617,Active,Orphanet,ORPHA:371861,Group of disorders,[Category],Genetic hyperaldosteronism,,,,,,,,,,, +GARD:21618,Active,Orphanet,ORPHA:376724,Group of disorders,[Category],Generalized isolated dystonia,,,,,,,,,,, +GARD:21619,Active,Orphanet,ORPHA:391316,Disorder,[Disease],Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,,"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.",,,,,,,,, +GARD:2162,Active,Orphanet,ORPHA:1941,Disorder,[Disease],Juvenile absence epilepsy,[JAE],"Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.",[607631],,,,,Epilepsy juvenile absence,TRUE,FALSE,Active +GARD:21620,Active,Orphanet,ORPHA:391343,Disorder,[Disease],Fatal post-viral neurodegenerative disorder,,"Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.",,,,,,,,, +GARD:21621,Active,Orphanet,ORPHA:391366,Disorder,[Disease],Growth retardation-mild developmental delay-chronic hepatitis syndrome,,"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.",,,,,,,,, +GARD:21622,Active,Orphanet,ORPHA:391381,Group of disorders,[Category],Disorder of asparagine metabolism,,,,,,,,,,, +GARD:21623,Active,Orphanet,ORPHA:391490,Subtype of disorder,[Clinical subtype],Adult-onset myasthenia gravis,"[Adult-onset acquired myasthenia, Adult-onset autoimmune myasthenia gravis]","A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.",,,,,,,,, +GARD:21624,Active,Orphanet,ORPHA:391497,Subtype of disorder,[Clinical subtype],Juvenile myasthenia gravis,"[Childhood myasthenia gravis, Juvenile acquired myasthenia, Juvenile autoimmune myasthenia gravis]","Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.",,,,,,,,, +GARD:21625,Active,Orphanet,ORPHA:391504,Subtype of disorder,[Clinical subtype],Transient neonatal myasthenia gravis,"[NMG, Neonatal myasthenia gravis, Transient neonatal acquired myasthenia, Transient neonatal autoimmune myasthenia gravis]",Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.,,,,,,,,, +GARD:21626,Active,Orphanet,ORPHA:391651,Disorder,[Disease],Glomus tumor,,"A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.",,,,,,,,, +GARD:21627,Active,Orphanet,ORPHA:391655,Disorder,[Particular clinical situation in a disease or syndrome],Off-periods in Parkinson disease not responding to oral treatment,,"A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure.",,,,,,,,, +GARD:21628,Active,Orphanet,ORPHA:391711,Group of disorders,[Clinical group],Persistent combined dystonia,,,,,,,,,,, +GARD:21629,Active,Orphanet,ORPHA:391723,Disorder,[Disease],Mucinous adenocarcinoma of the appendix,[Appendiceal mucinous adenocarcinoma],"Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.",,,,,,,,, +GARD:2163,Legacy,GARD,,,,,,,,,,,,Epilepsy mental deterioration Finnish type,TRUE,FALSE,Active +GARD:21630,Active,Orphanet,ORPHA:391799,Group of disorders,[Category],Rare genetic dystonia,[Rare genetic dystonic disorder],,,,,,,,,, +GARD:21631,Active,Orphanet,ORPHA:397587,Disorder,[Disease],Deep dermatophytosis,[Disseminated granulomatous dermatophytosis],"A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.",,,,,,,,, +GARD:21632,Active,Orphanet,ORPHA:397606,Disorder,[Disease],PrP systemic amyloidosis,"[Chronic diarrhea with HSAN, Chronic diarrhea with hereditary sensory and autonomic neuropathy, Prion protein systemic amyloidosis]","A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.",,,,,,,,, +GARD:21633,Active,Orphanet,ORPHA:397695,Disorder,[Disease],3q27.3 microdeletion syndrome,[Del(3)(q27.3)],"3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.",,,,,,,,, +GARD:21634,Active,Orphanet,ORPHA:397750,Disorder,[Disease],Periodic paralysis with later-onset distal motor neuropathy,,"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.",,,,,,,,, +GARD:21635,Active,Orphanet,ORPHA:397755,Disorder,[Disease],Periodic paralysis with transient compartment-like syndrome,,"Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.",,,,,,,,, +GARD:21636,Active,Orphanet,ORPHA:397802,Group of disorders,[Clinical group],T+ B+ severe combined immunodeficiency,,,,,,,,,,, +GARD:21637,Active,Orphanet,ORPHA:397922,Disorder,[Disease],Ferro-cerebro-cutaneous syndrome,[Cerebro-cutaneous syndrome with iron overload],"Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.",,,,,,,,, +GARD:21638,Active,Orphanet,ORPHA:398053,Disorder,[Disease],Adenocarcinoma of the penis,[Penile adenocarcinoma],"An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.",,,,,,,,, +GARD:21639,Active,Orphanet,ORPHA:398058,Disorder,[Disease],Squamous cell carcinoma of the penis,[Penile squamous cell carcinoma],"A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.",,,,,,,,, +GARD:21640,Active,Orphanet,ORPHA:398063,Disorder,[Disease],Refractory celiac disease,"[Refractory CD, Refractory sprue]","Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.",,,,,,,,, +GARD:21641,Active,Orphanet,ORPHA:398073,Group of disorders,[Clinical group],Prader-Willi-like syndrome,[PWS-like],"Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.",,,,,,,,, +GARD:21642,Active,Orphanet,ORPHA:398079,Disorder,[Disease],SIM1-related Prader-Willi-like syndrome,[SIM1-related PWLS],,,,,,,,,, +GARD:21643,Active,Orphanet,ORPHA:398091,Group of disorders,[Category],Secondary neonatal autoimmune disease,[Transplacentally acquired neonatal autoimmune disease],,,,,,,,,, +GARD:21644,Active,Orphanet,ORPHA:398097,Disorder,[Disease],Neonatal antiphospholipid syndrome,"[Neonatal Hughes syndrome, Neonatal antiphospholipid antibody syndrome]","Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).",,,,,,,,, +GARD:21645,Active,Orphanet,ORPHA:398109,Disorder,[Disease],Neonatal autoimmune hemolytic anemia,"[Neonatal AHA, Neonatal AIHA]","Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.",,,,,,,,, +GARD:21646,Active,Orphanet,ORPHA:398117,Disorder,[Disease],Neonatal dermatomyositis,[Neonatal DM],"Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.",,,,,,,,, +GARD:21647,Active,Orphanet,ORPHA:398124,Disorder,[Disease],Neonatal lupus erythematosus,,"A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.",,,,,,,,, +GARD:21648,Active,Orphanet,ORPHA:398127,Disorder,[Disease],Neonatal scleroderma,,"Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.",,,,,,,,, +GARD:21649,Active,Orphanet,ORPHA:398147,Disorder,[Disease],Persistent idiopathic facial pain,"[AFP, Atypical facial pain, PIFP]","A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.",,,,,,,,, +GARD:21650,Active,Orphanet,ORPHA:398940,Group of disorders,[Category],Malignant non-epithelial tumor of ovary,"[Non-epithelial cancer of ovary, Ovarian malignant non-epithelial tumor, Ovarian non-epithelial cancer]",,,,,,,,,, +GARD:21651,Active,Orphanet,ORPHA:398961,Disorder,[Disease],Mucinous adenocarcinoma of ovary,[Ovarian mucinous adenocarcinoma],"Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.",,,,,,,,, +GARD:21652,Active,Orphanet,ORPHA:398971,Disorder,[Disease],Clear cell adenocarcinoma of the ovary,[Ovarian clear cell adenocarcinoma],"A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.",,,,,,,,, +GARD:21653,Active,Orphanet,ORPHA:398980,Disorder,[Disease],Primary peritoneal serous/papillary carcinoma,[PPSPC],,,,,,,,,, +GARD:21654,Active,Orphanet,ORPHA:398987,Disorder,[Disease],Malignant teratoma of ovary,"[Immature teratoma of ovary, Ovarian immature teratoma, Ovarian malignant teratoma]","A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.",,,,,,,,, +GARD:21655,Active,Orphanet,ORPHA:399081,Disorder,[Disease],KLHL9-related early-onset distal myopathy,,"KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.",,,,,,,,, +GARD:21656,Active,Orphanet,ORPHA:399103,Disorder,[Disease],Distal nebulin myopathy,[Nebulin-related early-onset distal myopathy],"Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.",,,,,,,,, +GARD:21657,Active,Orphanet,ORPHA:399158,Group of disorders,[Category],Osteonecrosis,[Bone necrosis],,,,,,,,,, +GARD:21658,Active,Orphanet,ORPHA:399164,Group of disorders,[Category],Avascular necrosis,[AVN],,,,,,,,,, +GARD:21659,Active,Orphanet,ORPHA:399169,Group of disorders,[Category],Secondary avascular necrosis,[Secondary AVN],,,,,,,,,, +GARD:2166,Active,Orphanet,ORPHA:1459,Disorder,[Disease],Celiac disease-epilepsy-cerebral calcification syndrome,[CEC],"Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.",[226810],,,,,Epilepsy occipital calcifications,TRUE,FALSE,Active +GARD:21660,Active,Orphanet,ORPHA:399175,Disorder,[Disease],Traumatic avascular necrosis,[Traumatic AVN],,,,,,,,,, +GARD:21661,Active,Orphanet,ORPHA:399180,Disorder,[Disease],Secondary non-traumatic avascular necrosis,"[Secondary non-traumatic AVN, Secondary non-traumatic osteonecrosis]","A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.",,,,,,,,, +GARD:21662,Active,Orphanet,ORPHA:399185,Group of disorders,[Category],Rare hereditary disease with avascular necrosis,,,,,,,,,,, +GARD:21663,Active,Orphanet,ORPHA:399293,Disorder,[Disease],Osteonecrosis of the jaw,,"A rare osteonecrosis characterized by an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental interventions, or trauma and infections. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae.",,,,,,,,, +GARD:21664,Active,Orphanet,ORPHA:399302,Group of disorders,[Clinical group],Primary avascular necrosis,[Primary AVN],,,,,,,,,, +GARD:21665,Active,Orphanet,ORPHA:399307,Disorder,[Disease],Idiopathic avascular necrosis,[Idiopathic AVN],"A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.",,,,,,,,, +GARD:21666,Active,Orphanet,ORPHA:399329,Disorder,[Disease],Epiphysiolysis of the hip,"[Epiphysiolysis of the upper femur, Femoral head epiphysiolysis, SCFE, SUFE, Slipped capital femoral epiphysis, Slipped upper femoral epiphysis]","Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).",,,,,,,,, +GARD:21667,Active,Orphanet,ORPHA:399380,Group of disorders,[Category],Osteonecrosis of genetic origin,[Bone necrosis of genetic origin],,,,,,,,,, +GARD:21668,Active,Orphanet,ORPHA:399388,Group of disorders,[Category],Avascular necrosis of genetic origin,,,,,,,,,,, +GARD:21669,Active,Orphanet,ORPHA:399391,Group of disorders,[Category],Osteochondrosis of genetic origin,,,,,,,,,,, +GARD:2167,Active,Orphanet,ORPHA:263516,Subtype of disorder,[Clinical subtype],Progressive myoclonic epilepsy type 3,"[CLN14 disease, EPM3, PME type 3, Progressive myoclonic epilepsy due to KCTD7 deficiency, Progressive myoclonus epilepsy type 3]","A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.",[611726],,,,,Epilepsy progressive myoclonic type 3,TRUE,FALSE,Active +GARD:21670,Active,Orphanet,ORPHA:399572,Group of disorders,[Category],Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder,"[Rare male infertility due to gonadotropic axis disorder, Rare male infertility due to hypothalamic-pituitary-testicular axis disorder]",,,,,,,,,, +GARD:21671,Active,Orphanet,ORPHA:399584,Group of disorders,[Category],Rare male infertility due to adrenal disorder,,,,,,,,,,, +GARD:21672,Active,Orphanet,ORPHA:399685,Group of disorders,[Category],Rare male infertility due to testicular endocrine disorder,,,,,,,,,,, +GARD:21673,Active,Orphanet,ORPHA:399764,Group of disorders,[Category],Male infertility due to gonadal dysgenesis or sperm disorder,[Male infertility due to testicular dysgenesis or sperm disorder],,,,,,,,,, +GARD:21674,Active,Orphanet,ORPHA:399771,Group of disorders,[Category],Male infertility due to sperm disorder,,,,,,,,,,, +GARD:21675,Active,Orphanet,ORPHA:399775,Group of disorders,[Category],Male infertility with spermatogenesis disorder,,,,,,,,,,, +GARD:21676,Active,Orphanet,ORPHA:399813,Group of disorders,[Category],Male infertility due to sperm motility disorder,[Male infertility due to asthenozoospermia],,,,,,,,,, +GARD:21677,Active,Orphanet,ORPHA:399824,Group of disorders,[Category],Rare disorder with obstructive azoospermia,[Rare disorder due to impaired sperm transport],,,,,,,,,, +GARD:21678,Active,Orphanet,ORPHA:399831,Group of disorders,[Category],Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder,"[Rare female infertility due to gonadotropic axis disorder, Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder]",,,,,,,,,, +GARD:21679,Active,Orphanet,ORPHA:399839,Group of disorders,[Category],Rare female infertility due to a congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:2168,Active,Orphanet,ORPHA:1951,Disorder,[Disease],Epilepsy-telangiectasia syndrome,,"A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.",[226850],,,,,Epilepsy telangiectasia,TRUE,FALSE,Active +GARD:21680,Active,Orphanet,ORPHA:399846,Group of disorders,[Category],Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:21681,Active,Orphanet,ORPHA:399849,Group of disorders,[Category],Rare female infertility due to an adrenal disorder,,,,,,,,,,, +GARD:21682,Active,Orphanet,ORPHA:399853,Group of disorders,[Category],Rare female infertility due to an anomaly of ovarian function,,,,,,,,,,, +GARD:21683,Active,Orphanet,ORPHA:399877,Group of disorders,[Category],Rare female infertility due to gonadal dysgenesis,[Rare female infertility due to ovarian dysgenesis],,,,,,,,,, +GARD:21684,Active,Orphanet,ORPHA:399882,Group of disorders,[Category],Rare female infertility due to an implantation defect,,,,,,,,,,, +GARD:21685,Active,Orphanet,ORPHA:399980,Group of disorders,[Category],Rare genetic male infertility,,,,,,,,,,, +GARD:21686,Active,Orphanet,ORPHA:399983,Group of disorders,[Category],Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"[Rare male infertility due to gonadotropic axis disorder of genetic origin, Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin]",,,,,,,,,, +GARD:21687,Active,Orphanet,ORPHA:399994,Group of disorders,[Category],Rare male infertility due to adrenal disorder of genetic origin,,,,,,,,,,, +GARD:21688,Active,Orphanet,ORPHA:399998,Group of disorders,[Category],Male infertility due to obstructive azoospermia of genetic origin,[Male infertility due to impaired sperm transport of genetic origin],,,,,,,,,, +GARD:21689,Active,Orphanet,ORPHA:400003,Group of disorders,[Category],Rare genetic disorder with obstructive azoospermia,[Rare genetic disorder due to impaired sperm transport],,,,,,,,,, +GARD:2169,Active,Orphanet,ORPHA:1942,Disorder,[Disease],Myoclonic-astatic epilepsy,"[Doose syndrome, EMAS, Epilepsy with myoclonic-astatic seizures, Epilepsy with myoclonic-atonic seizures, MAE, Myoclonic atonic epilepsy, Myoclonic-astatic epilepsy in early childhood]","A rare, childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.","[618587, 616421, 615369]",,,,,Epilepsy with myoclonic-atonic seizures,TRUE,FALSE,Active +GARD:21690,Active,Orphanet,ORPHA:400008,Group of disorders,[Category],Rare genetic female infertility,,,,,,,,,,, +GARD:21691,Active,Orphanet,ORPHA:400011,Group of disorders,[Category],Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"[Rare female infertility due to gonadotropic axis disorder of genetic origin, Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin]",,,,,,,,,, +GARD:21692,Active,Orphanet,ORPHA:400018,Group of disorders,[Category],Rare female infertility due to adrenal disorder of genetic origin,,,,,,,,,,, +GARD:21693,Active,Orphanet,ORPHA:400022,Group of disorders,[Category],Rare female infertility due to an anomaly of ovarian function of genetic origin,,,,,,,,,,, +GARD:21694,Active,Orphanet,ORPHA:400025,Group of disorders,[Category],Female infertility due to an implantation defect of genetic origin,,,,,,,,,,, +GARD:21695,Active,Orphanet,ORPHA:401795,Disorder,[Disease],Autosomal recessive spastic paraplegia type 59,[SPG59],"Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.",,,,,,,,, +GARD:21696,Active,Orphanet,ORPHA:401800,Disorder,[Disease],Autosomal recessive spastic paraplegia type 60,[SPG60],"Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.",,,,,,,,, +GARD:21697,Active,Orphanet,ORPHA:401815,Disorder,[Disease],Autosomal recessive spastic paraplegia type 66,[SPG66],"Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.",,,,,,,,, +GARD:21698,Active,Orphanet,ORPHA:401820,Disorder,[Disease],Autosomal recessive spastic paraplegia type 67,[SPG67],"Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.",,,,,,,,, +GARD:21699,Active,Orphanet,ORPHA:401830,Disorder,[Disease],Autosomal recessive spastic paraplegia type 69,[SPG69],"Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.",,,,,,,,, +GARD:217,Legacy,GARD,,,,,,,,,,,,Roy Maroteaux Kremp syndrome,TRUE,FALSE,Active +GARD:2170,Active,Orphanet,ORPHA:25968,Disorder,[Disease],Benign occipital epilepsy,,"Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.",[132090],,,,,"Epilepsy, benign occipital",TRUE,FALSE,Active +GARD:21700,Active,Orphanet,ORPHA:401835,Disorder,[Disease],Autosomal recessive spastic paraplegia type 70,[SPG70],"Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.",,,,,,,,, +GARD:21701,Active,Orphanet,ORPHA:401840,Disorder,[Disease],Autosomal recessive spastic paraplegia type 71,[SPG71],"Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.",,,,,,,,, +GARD:21702,Active,Orphanet,ORPHA:401901,Disorder,[Disease],Huntington disease-like syndrome due to C9ORF72 expansions,"[C9ORF72-related Huntington disease phenocopy, C9ORF72-related Huntington disease-like syndrome, Huntington disease phenocopy due to C9ORF72 expansions]","Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.",,,,,,,,, +GARD:21703,Active,Orphanet,ORPHA:401911,Subtype of disorder,[Clinical subtype],AXIN2-related attenuated familial adenomatous polyposis,"[AXIN2-related AFAP, AXIN2-related attenuated FAP, AXIN2-related attenuated familial polyposis coli]",,,,,,,,,, +GARD:21704,Active,Orphanet,ORPHA:401920,Disorder,[Disease],Fibrolamellar hepatocellular carcinoma,"[FHCC, Fibrolamellar hepatocarcinoma]","A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.",,,,,,,,, +GARD:21705,Active,Orphanet,ORPHA:401923,Disorder,[Malformation syndrome],9q31.1q31.3 microdeletion syndrome,"[Del(9)(q31.1q31.3), Monosomy 9q31.1q31.3]","9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.",,,,,,,,, +GARD:21706,Active,Orphanet,ORPHA:401935,Disorder,[Malformation syndrome],14q24.1q24.3 microdeletion syndrome,"[Del(14)(q24.1q24.3), Monosomy 14q24.1q24.3]","14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.",,,,,,,,, +GARD:21707,Active,Orphanet,ORPHA:401959,Disorder,[Malformation syndrome],Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,,"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.",,,,,,,,, +GARD:21708,Active,Orphanet,ORPHA:401993,Group of disorders,[Clinical group],Cold-induced sweating syndrome-hyperthermia spectrum,,,,,,,,,,, +GARD:21709,Active,Orphanet,ORPHA:402007,Group of disorders,[Clinical group],Lichen myxedematosus,,,,,,,,,,, +GARD:21710,Active,Orphanet,ORPHA:402014,Disorder,[Disease],Acute myeloid leukemia with t(6;9)(p23;q34),[AML with t(6;9)(p23;q34)],"A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.",,,,,,,,, +GARD:21711,Active,Orphanet,ORPHA:402017,Disorder,[Disease],Acute myeloid leukemia with t(9;11)(p22;q23),[AML with t(9;11)(p22;q23)],"A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.",,,,,,,,, +GARD:21712,Active,Orphanet,ORPHA:402023,Disorder,[Disease],Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),[Megakaryoblastic AML with t(1;22)(p13;q13)],"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.",,,,,,,,, +GARD:21713,Active,Orphanet,ORPHA:402026,Disorder,[Disease],Acute myeloid leukemia with NPM1 somatic mutations,[AML with NPM1 somatic mutations],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.",,,,,,,,, +GARD:21714,Active,Orphanet,ORPHA:402029,Group of disorders,[Clinical group],Primary eosinophilic gastrointestinal disease,[EGID],,,,,,,,,, +GARD:21715,Active,Orphanet,ORPHA:402035,Disorder,[Disease],Eosinophilic colitis,,"A rare gastroenterologic disease characterized by extensive eosinophilic infiltration of the colon in the absence of any known cause of secondary intestinal eosinophilia. Patients present with abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, malabsorption, and/or weight loss. Symptoms do not correlate with the extent of the disease, which can be segmental or pancolonic. Blood testing may show peripheral eosinophilia. The condition has a bimodal age distribution, with a first peak in neonates and a second peak in young adulthood.",,,,,,,,, +GARD:21716,Active,Orphanet,ORPHA:402823,Disorder,[Disease],Hepatitis delta,"[HDV, Hepatitis D virus]","Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.",,,,,,,,, +GARD:21717,Active,Orphanet,ORPHA:404451,Disorder,[Malformation syndrome],FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,,"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.",,,,,,,,, +GARD:21718,Active,Orphanet,ORPHA:404469,Group of disorders,[Category],Rare female infertility due to oocyte maturation defect,,,,,,,,,,, +GARD:21719,Active,Orphanet,ORPHA:404481,Group of disorders,[Clinical group],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,,,,,,,,,,, +GARD:2172,Legacy,GARD,,,,,,,,,,,,"Epilepsy, nocturnal, frontal lobe type",TRUE,FALSE,Retired +GARD:21720,Active,Orphanet,ORPHA:404507,Disorder,[Disease],Chondromyxoid fibroma,,"A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.",,,,,,,,, +GARD:21721,Active,Orphanet,ORPHA:404511,Subtype of disorder,[Histopathological subtype],Clear cell papillary renal cell carcinoma,,"Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.",,,,,,,,, +GARD:21722,Active,Orphanet,ORPHA:404514,Disorder,[Disease],Acquired cystic disease-associated renal cell carcinoma,,"A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.",,,,,,,,, +GARD:21723,Active,Orphanet,ORPHA:404521,Disorder,[Disease],Spinal muscular atrophy with respiratory distress type 2,"[Diaphragmatic spinal muscular atrophy type 2, SMARD2, Severe infantile axonal neuropathy with respiratory failure type 2, X-linked spinal muscular atrophy with respiratory distress]","Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.",,,,,,,,, +GARD:21724,Active,Orphanet,ORPHA:404538,Group of disorders,[Category],X-linked distal hereditary motor neuropathy,"[X-linked dHMN, X-linked distal spinal muscular atrophy]",,,,,,,,,, +GARD:21725,Active,Orphanet,ORPHA:404568,Group of disorders,[Category],Dysostosis of genetic origin,,,,,,,,,,, +GARD:21726,Active,Orphanet,ORPHA:404571,Group of disorders,[Category],Dysostosis of genetic origin with limb anomaly as a major feature,,,,,,,,,,, +GARD:21727,Active,Orphanet,ORPHA:404574,Group of disorders,[Category],Genetic syndrome with limb reduction defects,,,,,,,,,,, +GARD:21728,Active,Orphanet,ORPHA:404577,Group of disorders,[Category],Genetic syndrome with limb malformations as a major feature,,,,,,,,,,, +GARD:21729,Active,Orphanet,ORPHA:404580,Group of disorders,[Clinical group],Polyarticular juvenile idiopathic arthritis,"[Juvenile polyarthritis, Juvenile polyarticular arthritis, Polyarticular JIA]","A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.",,,,,,,,, +GARD:2173,Active,Orphanet,ORPHA:309,Group of disorders,[Clinical group],Familial partial epilepsy,,,,,,,,"Epilepsy, partial, familial",TRUE,FALSE,Active +GARD:21730,Active,Orphanet,ORPHA:404584,Group of disorders,[Category],Rare genetic bone development disorder,[Rare genetic skeletal development disorder],,,,,,,,,, +GARD:21731,Active,Orphanet,ORPHA:411501,Disorder,[Morphological anomaly],Williams-Campbell syndrome,,"A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.",,,,,,,,, +GARD:21732,Active,Orphanet,ORPHA:411511,Subtype of disorder,[Etiological subtype],Angelman syndrome due to a point mutation,,,,,,,,,,, +GARD:21733,Active,Orphanet,ORPHA:411515,Subtype of disorder,[Etiological subtype],Angelman syndrome due to imprinting defect in 15q11-q13,,,,,,,,,,, +GARD:21734,Active,Orphanet,ORPHA:411527,Disorder,[Particular clinical situation in a disease or syndrome],Central retinal vein occlusion,[CRVO],"A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma.",,,,,,,,, +GARD:21735,Active,Orphanet,ORPHA:411696,Disorder,[Disease],Proton-pump inhibitor-responsive esophageal eosinophilia,"[PPI-REE, PPI-responsive esophageal eosinophilia, PPIRee]","Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.",,,,,,,,, +GARD:21736,Active,Orphanet,ORPHA:411777,Disorder,[Disease],Generalized eruptive keratoacanthoma,"[GEKA, Generalized eruptive keratoacanthomas of Grzybowski, Grzybowski syndrome]","Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.",,,,,,,,, +GARD:21737,Active,Orphanet,ORPHA:412035,Disorder,[Malformation syndrome],13q12.3 microdeletion syndrome,"[Del(13)(q12.3), Monosomy 13q12.3]","13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.",,,,,,,,, +GARD:21738,Active,Orphanet,ORPHA:412066,Disorder,[Disease],PRKAR1B-related neurodegenerative dementia with intermediate filaments,,"PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.",,,,,,,,, +GARD:21739,Active,Orphanet,ORPHA:412217,Disorder,[Disease],Dystonia-aphonia syndrome,,"Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.",,,,,,,,, +GARD:21740,Active,Orphanet,ORPHA:414726,Group of disorders,[Category],Genetic facial cleft,[Genetic craniofacial cleft],,,,,,,,,, +GARD:21741,Active,Orphanet,ORPHA:418945,Disorder,[Disease],"Carcinoma of esophagus, salivary gland type","[Esophageal carcinoma, salivary gland type]","A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.",,,,,,,,, +GARD:21742,Active,Orphanet,ORPHA:418951,Disorder,[Disease],Undifferentiated carcinoma of esophagus,[Undifferentiated esophageal carcinoma],"A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.",,,,,,,,, +GARD:21743,Active,Orphanet,ORPHA:418959,Disorder,[Disease],Squamous cell carcinoma of the stomach,[Gastric squamous cell carcinoma],"A rare epithelial tumour of stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.",,,,,,,,, +GARD:21744,Active,Orphanet,ORPHA:420259,Disorder,[Disease],Secondary pulmonary alveolar proteinosis,[Secondary PAP],"A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.",,,,,,,,, +GARD:21745,Active,Orphanet,ORPHA:420402,Disorder,[Clinical syndrome],Semicircular canal dehiscence syndrome,[SCD syndrome],"A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.",,,,,,,,, +GARD:21746,Active,Orphanet,ORPHA:420429,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to acid maltase deficiency, late-onset","[Alpha-1,4-glucosidase acid deficiency, late-onset, GSD due to acid maltase deficiency, late-onset, GSD type 2, late-onset, GSD type II, late-onset, Glycogen storage disease type 2, late-onset, Glycogen storage disease type II, late-onset, Glycogenosis type 2, late-onset, Glycogenosis type II, late-onset, Pompe disease, late-onset]","A form of glycogen storage disease due to acid maltase deficiency, a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, that is characterized by an accumulation of glycogen in lysosomes.",,,,,,,,, +GARD:21747,Active,Orphanet,ORPHA:420699,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,,"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.",,,,,,,,, +GARD:21748,Active,Orphanet,ORPHA:420755,Group of disorders,[Category],Rare genetic odontal or periodontal disorder,,,,,,,,,,, +GARD:21749,Active,Orphanet,ORPHA:420789,Disorder,[Disease],Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,"[Anti-IgLON5 disease, Anti-IgLON5 syndrome]","A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.",,,,,,,,, +GARD:2175,Legacy,GARD,,,,,,,,,,,,Epimetaphyseal dysplasia cataract,TRUE,FALSE,Active +GARD:21750,Active,Orphanet,ORPHA:420794,Disorder,[Malformation syndrome],Cono-spondylar dysplasia,[Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome],"Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.",,,,,,,,, +GARD:21751,Active,Orphanet,ORPHA:423306,Disorder,[Malformation syndrome],Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,,"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.",,,,,,,,, +GARD:21752,Active,Orphanet,ORPHA:423479,Disorder,[Disease],X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,,"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.",,,,,,,,, +GARD:21753,Active,Orphanet,ORPHA:423655,Group of disorders,[Clinical group],ARX-related encephalopathy-brain malformation spectrum,,,,,,,,,,, +GARD:21754,Active,Orphanet,ORPHA:423662,Group of disorders,[Category],Rare autonomic nervous system disorder,,,,,,,,,,, +GARD:21755,Active,Orphanet,ORPHA:423693,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,[DORV with subaortic or doubly committed VSD],,,,,,,,,, +GARD:21756,Active,Orphanet,ORPHA:423712,Subtype of disorder,[Clinical subtype],"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy","[DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy]",,,,,,,,,, +GARD:21757,Active,Orphanet,ORPHA:423771,Group of disorders,[Category],Rare carcinoma of stomach,[Rare gastric carcinoma],,,,,,,,,, +GARD:21758,Active,Orphanet,ORPHA:423776,Group of disorders,[Category],Hereditary gastric cancer,[Hereditary cancer of stomach],"Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).",,,,,,,,, +GARD:21759,Active,Orphanet,ORPHA:423786,Disorder,[Disease],Undifferentiated carcinoma of stomach,[Undifferentiated gastric carcinoma],"Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.",,,,,,,,, +GARD:2176,Legacy,GARD,,,,,,,,,,,,Epimetaphyseal skeletal dysplasia,TRUE,FALSE,Retired +GARD:21760,Active,Orphanet,ORPHA:423793,Group of disorders,[Category],Rare tumor of small intestine,[Rare tumor of small bowel],,,,,,,,,, +GARD:21761,Active,Orphanet,ORPHA:423798,Group of disorders,[Category],Mesenchymal tumor of small intestine,[Mesenchymal tumor of small bowel],,,,,,,,,, +GARD:21762,Active,Orphanet,ORPHA:423894,Disorder,[Disease],Microcephaly-complex motor and sensory axonal neuropathy syndrome,,"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.",,,,,,,,, +GARD:21763,Active,Orphanet,ORPHA:423957,Group of disorders,[Category],Rare carcinoma of small intestine,[Rare carcinoma of small bowel],,,,,,,,,, +GARD:21764,Active,Orphanet,ORPHA:423968,Disorder,[Disease],Squamous cell carcinoma of the small intestine,[Squamous cell carcinoma of the small bowel],"Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.",,,,,,,,, +GARD:21765,Active,Orphanet,ORPHA:423975,Group of disorders,[Category],Neuroendocrine tumor of the small intestine,"[NET of the small intestine, Neuroendocrine neoplasm of the small intestine, Neuroendocrine tumor of small bowel]",,,,,,,,,, +GARD:21766,Active,Orphanet,ORPHA:423982,Group of disorders,[Category],Epithelial tumor of the appendix,[Appendiceal epithelial tumor],,,,,,,,,, +GARD:21767,Active,Orphanet,ORPHA:423991,Group of disorders,[Category],Rare epithelial tumor of colon,,,,,,,,,,, +GARD:21768,Active,Orphanet,ORPHA:423994,Disorder,[Disease],Squamous cell carcinoma of the colon,,"A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.",,,,,,,,, +GARD:21769,Active,Orphanet,ORPHA:423998,Group of disorders,[Category],Rare epithelial tumor of rectum,[Rare rectal epithelial tumor],,,,,,,,,, +GARD:2177,Legacy,GARD,,,,,,,,,,,,Epiphyseal dysplasia dysmorphism camptodactyly,TRUE,FALSE,Active +GARD:21770,Active,Orphanet,ORPHA:424002,Disorder,[Disease],Squamous cell carcinoma of the rectum,[Rectal squamous cell carcinoma],"A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.",,,,,,,,, +GARD:21771,Active,Orphanet,ORPHA:424010,Group of disorders,[Category],Epithelial tumor of anal canal,,,,,,,,,,, +GARD:21772,Active,Orphanet,ORPHA:424013,Group of disorders,[Clinical group],Carcinoma of the anal canal,,,,,,,,,,, +GARD:21773,Active,Orphanet,ORPHA:424016,Disorder,[Disease],Adenocarcinoma of the anal canal,,"A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.",,,,,,,,, +GARD:21774,Active,Orphanet,ORPHA:424019,Disorder,[Disease],Squamous cell carcinoma of the anal canal,,"Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.",,,,,,,,, +GARD:21775,Active,Orphanet,ORPHA:424033,Group of disorders,[Category],Rare epithelial tumor of pancreas,[Rare pancreatic epithelial tumor],,,,,,,,,, +GARD:21776,Active,Orphanet,ORPHA:424039,Disorder,[Disease],Squamous cell carcinoma of pancreas,[Pancreatic squamous cell carcinoma],"A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.",,,,,,,,, +GARD:21777,Active,Orphanet,ORPHA:424046,Disorder,[Disease],Acinar cell carcinoma of pancreas,[Pancreatic acinar cell carcinoma],"A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.",,,,,,,,, +GARD:21778,Active,Orphanet,ORPHA:424053,Disorder,[Disease],Mucinous cystadenocarcinoma of the pancreas,[Pancreatic mucinous cystadenocarcinoma],"A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.",,,,,,,,, +GARD:21779,Active,Orphanet,ORPHA:424058,Disorder,[Disease],Intraductal papillary mucinous carcinoma of pancreas,"[IPMN, Pancreatic intraductal papillary mucinous carcinoma]","Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.",,,,,,,,, +GARD:2178,Active,Orphanet,ORPHA:1825,Disorder,[Malformation syndrome],Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,"[Epiphyseal dysplasia-deafness-dysmorphism syndrome, Finucane-Kurtz-Scott syndrome]","Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.",,,,,,Epiphyseal dysplasia hearing loss dysmorphism,TRUE,FALSE,Active +GARD:21780,Active,Orphanet,ORPHA:424065,Disorder,[Disease],Solid pseudopapillary carcinoma of pancreas,"[Pancreatic solid pseudopapillary carcinoma, Solid pseudopapillary neoplasm of the pancreas]","A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.",,,,,,,,, +GARD:21781,Active,Orphanet,ORPHA:424073,Disorder,[Disease],Serous cystadenocarcinoma of pancreas,[Pancreatic serous cystadenocarcinoma],"A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.",,,,,,,,, +GARD:21782,Active,Orphanet,ORPHA:424080,Disorder,[Disease],Osteoclastic giant cell tumor of pancreas,"[OGCT of pancreas, Pancreatic osteoclastic giant cell tumor, Pancreatic undifferentiated carcinoma with osteoclast-like giant cells, Undifferentiated carcinoma of pancreas with osteoclast-like giant cells]",,,,,,,,,, +GARD:21783,Active,Orphanet,ORPHA:424107,Disorder,[Disease],Congenital myopathy with myasthenic-like onset,,"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.",,,,,,,,, +GARD:21784,Active,Orphanet,ORPHA:424925,Group of disorders,[Category],Qualitative or quantitative defects of Torsin-1A-interacting protein 1,,,,,,,,,,, +GARD:21785,Active,Orphanet,ORPHA:424933,Group of disorders,[Category],Rare malignant epithelial tumor of liver and intrahepatic biliary tract,[Rare malignant epithelial tumor of liver and IBT],,,,,,,,,, +GARD:21786,Active,Orphanet,ORPHA:424936,Group of disorders,[Category],Carcinoma of liver and intrahepatic biliary tract,[Carcinoma of liver and IBT],,,,,,,,,, +GARD:21787,Active,Orphanet,ORPHA:424943,Disorder,[Disease],Adenocarcinoma of the liver and intrahepatic biliary tract,[Adenocarcinoma of the liver and IBT],"A very rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.",,,,,,,,, +GARD:21788,Active,Orphanet,ORPHA:424970,Disorder,[Disease],Undifferentiated carcinoma of liver and intrahepatic biliary tract,[Undifferentiated carcinoma of liver and IBT],"Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.",,,,,,,,, +GARD:21789,Active,Orphanet,ORPHA:424975,Disorder,[Disease],Squamous cell carcinoma of liver and intrahepatic biliary tract,[Squamous cell carcinoma of liver and IBT],"Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.",,,,,,,,, +GARD:21790,Active,Orphanet,ORPHA:424982,Disorder,[Disease],Biliary cystadenocarcinoma,[Intrahepatic bile duct cystadenocarcinoma],,,,,,,,,, +GARD:21791,Active,Orphanet,ORPHA:424991,Disorder,[Disease],Adenocarcinoma of the gallbladder and extrahepatic biliary tract,[Adenocarcinoma of the gallbladder and EBT],"A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.",,,,,,,,, +GARD:21792,Active,Orphanet,ORPHA:424996,Disorder,[Disease],Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,[Squamous cell carcinoma of gallblader and EBT],"A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.",,,,,,,,, +GARD:21793,Active,Orphanet,ORPHA:425003,Group of disorders,[Category],Inherited digestive cancer-predisposing syndrome,,,,,,,,,,, +GARD:21794,Active,Orphanet,ORPHA:425368,Group of disorders,[Category],Rare epithelial tumor of small intestine,[Rare epithelial tumor of small bowel],,,,,,,,,, +GARD:21795,Active,Orphanet,ORPHA:431156,Group of disorders,[Category],Primary immunodeficiency with predisposition to severe viral infection,,,,,,,,,,, +GARD:21796,Active,Orphanet,ORPHA:431263,Group of disorders,[Clinical group],Late-onset scapuloperoneal muscular dystrophy with hyaline bodies,"[Late-onset SPMD with hyaline bodies, Late-onset scapuloperoneal syndrome, myopathic type]",,,,,,,,,, +GARD:21797,Active,Orphanet,ORPHA:431320,Group of disorders,[Clinical group],Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,[SPOAN and SPOAN-related disorder],"A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.",,,,,,,,, +GARD:21798,Active,Orphanet,ORPHA:431341,Disorder,[Morphological anomaly],Patent urachus,,"Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.",,,,,,,,, +GARD:21799,Active,Orphanet,ORPHA:431344,Disorder,[Morphological anomaly],Urachal sinus,,"Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.",,,,,,,,, +GARD:218,Active,Orphanet,ORPHA:3111,Disorder,[Disease],Rotor syndrome,"[Hyperbilirubinemia, Rotor type]","A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.",[237450],,,,,Rotor syndrome,TRUE,FALSE,Active +GARD:2180,Active,Orphanet,ORPHA:93308,Disorder,[Disease],Multiple epiphyseal dysplasia type 1,"[EDM1, MED1, Polyepiphyseal dysplasia type 1]","Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.",[132400],,,,,Multiple epiphyseal dysplasia 1,TRUE,FALSE,Active +GARD:21800,Active,Orphanet,ORPHA:431347,Disorder,[Morphological anomaly],Urachal diverticulum,[Vesicourachal diverticulum],Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.,,,,,,,,, +GARD:21801,Active,Orphanet,ORPHA:431353,Group of disorders,[Category],Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,,A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.,,,,,,,,, +GARD:21802,Active,Orphanet,ORPHA:434786,Group of disorders,[Category],Rare genetic autonomic nervous system disorder,,,,,,,,,,, +GARD:21803,Active,Orphanet,ORPHA:434809,Group of disorders,[Category],Syndrome with woolly hair,,,,,,,,,,, +GARD:21804,Active,Orphanet,ORPHA:435365,Group of disorders,[Clinical group],Fetal lower urinary tract obstruction,[LUTO],,,,,,,,,, +GARD:21805,Active,Orphanet,ORPHA:435372,Disorder,[Morphological anomaly],Anterior urethral valve,,"A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.",,,,,,,,, +GARD:21806,Active,Orphanet,ORPHA:435554,Group of disorders,[Category],Genetic precocious puberty,,,,,,,,,,, +GARD:21807,Active,Orphanet,ORPHA:435561,Group of disorders,[Category],Precocious puberty in female,,,,,,,,,,, +GARD:21808,Active,Orphanet,ORPHA:435564,Group of disorders,[Category],Genetic precocious puberty in female,,,,,,,,,,, +GARD:21809,Active,Orphanet,ORPHA:435603,Group of disorders,[Category],Genetic otorhinolaryngological malformation,,,,,,,,,,, +GARD:21810,Active,Orphanet,ORPHA:435606,Group of disorders,[Category],Genetic nose and cavum anomaly,,,,,,,,,,, +GARD:21811,Active,Orphanet,ORPHA:435609,Group of disorders,[Category],Genetic larynx anomaly,,,,,,,,,,, +GARD:21812,Active,Orphanet,ORPHA:435612,Group of disorders,[Category],Genetic tracheal anomaly,,,,,,,,,,, +GARD:21813,Active,Orphanet,ORPHA:435638,Disorder,[Malformation syndrome],3p25.3 microdeletion syndrome,"[Del(3)p(25.3), Intellectual disability-epilepsy-stereotypic hand movement syndrome, Monosomy 3p25.3]","3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.",,,,,,,,, +GARD:21814,Active,Orphanet,ORPHA:435743,Group of disorders,[Category],Congenital urachal anomaly,,"Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).",,,,,,,,, +GARD:21815,Active,Orphanet,ORPHA:435819,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,[CMT2 due to TFG mutation],"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.",,,,,,,,, +GARD:21816,Active,Orphanet,ORPHA:436003,Disorder,[Malformation syndrome],Contractures-developmental delay-Pierre Robin syndrome,[5q23 microdeletion syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.",,,,,,,,, +GARD:21817,Active,Orphanet,ORPHA:436141,Disorder,[Malformation syndrome],Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.",,,,,,,,, +GARD:21818,Active,Orphanet,ORPHA:436144,Disorder,[Disease],Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,,"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.",,,,,,,,, +GARD:21819,Active,Orphanet,ORPHA:436271,Disorder,[Disease],Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,,"A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.",,,,,,,,, +GARD:21820,Active,Orphanet,ORPHA:436274,Disorder,[Disease],Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,[PXE-like syndrome with retinitis pigmentosa],"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.",,,,,,,,, +GARD:21821,Active,Orphanet,ORPHA:438072,Group of disorders,[Category],Disorder of keton body transport,,,,,,,,,,, +GARD:21822,Active,Orphanet,ORPHA:438279,Disorder,[Disease],Human infection by orthopoxvirus,,"A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.",,,,,,,,, +GARD:21823,Active,Orphanet,ORPHA:439167,Disorder,[Clinical syndrome],Placental insufficiency,[Uteroplacental vascular insufficiency],"A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others.",,,,,,,,, +GARD:21824,Active,Orphanet,ORPHA:439175,Disorder,[Clinical syndrome],Pediatric arterial ischemic stroke,"[Childhood AIS, Childhood arterial ischemic stroke, Pediatric AIS]","A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.",,,,,,,,, +GARD:21825,Active,Orphanet,ORPHA:439196,Disorder,[Particular clinical situation in a disease or syndrome],Zinc-responsive necrolytic acral erythema,"[NAE, Necrolytic acral erythema]",,,,,,,,,, +GARD:21826,Active,Orphanet,ORPHA:439202,Disorder,[Disease],Non-recovering obstetric brachial plexus lesion,"[Chronic obstetric brachial plexus injury, Chronic obstetric brachial plexus palsy, Non-recovering OBPI, Non-recovering OBPL]","A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.",,,,,,,,, +GARD:21827,Active,Orphanet,ORPHA:439224,Disorder,[Disease],ALECT2 amyloidosis,[Leukocyte chemotactic factor-2 amyloidosis],"A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.",,,,,,,,, +GARD:21828,Active,Orphanet,ORPHA:439232,Disorder,[Disease],AApoAIV amyloidosis,[Apolipoprotein A-IV amyloidosis],"A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.",,,,,,,,, +GARD:21829,Active,Orphanet,ORPHA:439246,Group of disorders,[Clinical group],ABeta2M amyloidosis,[Beta2-microglobulinic amyloidosis],,,,,,,,,, +GARD:2183,Legacy,GARD,,,,,,,,,,,,Acute posterior multifocal placoid pigment epitheliopathy,TRUE,FALSE,Active +GARD:21830,Active,Orphanet,ORPHA:439737,Subtype of disorder,[Clinical subtype],Primary polyarteritis nodosa,"[Primary PAN, Primary periarteritis nodosa]",,,,,,,,,, +GARD:21831,Active,Orphanet,ORPHA:439746,Subtype of disorder,[Clinical subtype],Secondary polyarteritis nodosa,"[Secondary PAN, Secondary periarteritis nodosa]","Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).",,,,,,,,, +GARD:21832,Active,Orphanet,ORPHA:439755,Subtype of disorder,[Clinical subtype],Single-organ polyarteritis nodosa,"[Single-organ PAN, Single-organ periarteritis nodosa]","Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.",,,,,,,,, +GARD:21833,Active,Orphanet,ORPHA:439762,Subtype of disorder,[Clinical subtype],Systemic polyarteritis nodosa,"[Systemic PAN, Systemic periarteritis nodosa]",Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.,,,,,,,,, +GARD:21834,Active,Orphanet,ORPHA:439849,Group of disorders,[Category],Autosomal recessive severe congenital neutropenia,,,,,,,,,,, +GARD:21835,Active,Orphanet,ORPHA:439881,Disorder,[Particular clinical situation in a disease or syndrome],Plastic bronchitis,"[Croupous bronchitis, Fibrinous bronchitis, Pseudo-membranous bronchitis]",,,,,,,,,, +GARD:21836,Active,Orphanet,ORPHA:440221,Disorder,[Disease],Congenital oculomotor nerve palsy,"[Congenital CNIII lesion, Congenital third cranial nerve palsy]","A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.",,,,,,,,, +GARD:21837,Active,Orphanet,ORPHA:440233,Disorder,[Disease],Congenital abducens nerve palsy,"[Benign congenital sixth cranial nerve palsy, Congenital CNVI palsy]","A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.",,,,,,,,, +GARD:21838,Active,Orphanet,ORPHA:440354,Disorder,[Malformation syndrome],Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,[Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome],"A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.",,,,,,,,, +GARD:21839,Active,Orphanet,ORPHA:440368,Disorder,[Disease],Necrotizing soft tissue infection,[NSTI],"A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.",,,,,,,,, +GARD:21840,Active,Orphanet,ORPHA:440437,Disorder,[Disease],Familial colorectal cancer Type X,[FCCTX],"A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.",,,,,,,,, +GARD:21841,Active,Orphanet,ORPHA:440701,Group of disorders,[Category],Disorders of pentose/polyol metabolism,,,,,,,,,,, +GARD:21842,Active,Orphanet,ORPHA:440724,Disorder,[Disease],Extensive peripapillary myelinated nerve fibers,,"A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.",,,,,,,,, +GARD:21843,Active,Orphanet,ORPHA:440727,Disorder,[Disease],Combined hamartoma of the retina and retinal pigment epithelium,"[CHR-RPE, Combined hamartoma of the retina and RPE]","A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.",,,,,,,,, +GARD:21844,Active,Orphanet,ORPHA:440987,Disorder,[Morphological anomaly],Isolated agenesis of gallbladder,,"A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.",,,,,,,,, +GARD:21845,Active,Orphanet,ORPHA:441434,Group of disorders,[Category],Syndromic hereditary optic neuropathy,,,,,,,,,,, +GARD:21846,Active,Orphanet,ORPHA:441447,Subtype of disorder,[Clinical subtype],Early-onset posterior subcapsular cataract,,,,,,,,,,, +GARD:21847,Active,Orphanet,ORPHA:442582,Disorder,[Disease],AH amyloidosis,[Heavy chain amyloidosis],"A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.",,,,,,,,, +GARD:21848,Active,Orphanet,ORPHA:443090,Group of disorders,[Category],"46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",,,,,,,,,,, +GARD:21849,Active,Orphanet,ORPHA:443095,Group of disorders,[Category],Hyperinsulinemic hypoglycaemia,,,,,,,,,,, +GARD:21850,Active,Orphanet,ORPHA:443101,Disorder,[Disease],Hypothalamic adipsic hypernatraemia syndrome,,"A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.",,,,,,,,, +GARD:21851,Active,Orphanet,ORPHA:443159,Disorder,[Disease],Lymphoplasmacytic lymphoma without IgM production,[Lymphoplasmacytic lymphoma without Immunoglobulin M production],"A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia.",,,,,,,,, +GARD:21852,Active,Orphanet,ORPHA:443167,Disorder,[Disease],NUT midline carcinoma,[NMC],"A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.",,,,,,,,, +GARD:21853,Active,Orphanet,ORPHA:443173,Disorder,[Disease],Postpartum psychosis,[Puerperal psychosis],"A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.",,,,,,,,, +GARD:21854,Active,Orphanet,ORPHA:443180,Disorder,[Disease],Spontaneous intracranial hypotension,[Spontaneous cerebrospinal fluid leak],"A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.",,,,,,,,, +GARD:21855,Active,Orphanet,ORPHA:443227,Disorder,[Disease],Paratyphoid fever,,"A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.",,,,,,,,, +GARD:21856,Active,Orphanet,ORPHA:443287,Group of disorders,[Category],ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor,,,,,,,,,,, +GARD:21857,Active,Orphanet,ORPHA:443291,Disorder,[Particular clinical situation in a disease or syndrome],HIV-associated cancer,[HIV-related cancer],,,,,,,,,, +GARD:21858,Active,Orphanet,ORPHA:444002,Disorder,[Malformation syndrome],11q22.2q22.3 microdeletion syndrome,"[Del(11)(q22.2q22.3), Monosomy 11q22.2q22.3]","11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.",,,,,,,,, +GARD:21859,Active,Orphanet,ORPHA:444051,Disorder,[Malformation syndrome],20q11.2 microdeletion syndrome,"[Del(20)(q11.2), Monosomy 20q11]","A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.",,,,,,,,, +GARD:21860,Active,Orphanet,ORPHA:444316,Disorder,[Disease],Idiopathic phalangeal acro-osteolysis,[Idiopathic phalangeal acroosteolysis],"A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).",,,,,,,,, +GARD:21861,Active,Orphanet,ORPHA:444916,Group of disorders,[Clinical group],Pseudohypoaldosteronism,,,,,,,,,,, +GARD:21862,Active,Orphanet,ORPHA:444941,Group of disorders,[Clinical group],Caudal regression-sirenomelia spectrum,,"A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.",,,,,,,,, +GARD:21863,Active,Orphanet,ORPHA:445197,Group of disorders,[Category],Secondary vasculitis,,,,,,,,,,, +GARD:21864,Active,Orphanet,ORPHA:447731,Disorder,[Disease],NIK deficiency,[Primary immunodeficiency with multifaceted aberrant lymphoid immunity],"A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.",,,,,,,,, +GARD:21865,Active,Orphanet,ORPHA:447740,Disorder,[Disease],Susceptibility to localized juvenile periodontitis,,"A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.",,,,,,,,, +GARD:21866,Active,Orphanet,ORPHA:447757,Disorder,[Disease],Autosomal dominant spastic paraplegia type 9B,[AD-SPG9B],"A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.",,,,,,,,, +GARD:21867,Active,Orphanet,ORPHA:447764,Subtype of disorder,[Clinical subtype],IgG4-related sclerosing cholangitis,,"A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.",,,,,,,,, +GARD:21868,Active,Orphanet,ORPHA:447771,Group of disorders,[Clinical group],Sclerosing cholangitis,,,,,,,,,,, +GARD:21869,Active,Orphanet,ORPHA:447774,Disorder,[Disease],Secondary sclerosing cholangitis,,"A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.",,,,,,,,, +GARD:21870,Active,Orphanet,ORPHA:447777,Disorder,[Disease],Keratocystic odontogenic tumor,"[KTOC, Odontogenic keratocystoma]","A rare odontogenic tumor characterized by an unilocular or multilocular cyst most commonly located in the posterior body and lower ramus of the mandible, often surrounding the crown of the third molar. Histopathologically, the lesion shows a lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. Patients may be asymptomatic or present with local infection and/or signs and symptoms of mass effect. Recurrence is rare after complete surgical removal. Some patients have multiple cysts (metachronous or synchronous), especially in the context of nevoid basal cell carcinoma syndrome (Gorlin syndrome).",,,,,,,,, +GARD:21871,Active,Orphanet,ORPHA:447788,Disorder,[Clinical syndrome],Cerebral visual impairment,[Cortical visual impairment],"A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.",,,,,,,,, +GARD:21872,Active,Orphanet,ORPHA:447795,Disorder,[Biological anomaly],Lipoyl transferase 2 deficiency,,,,,,,,,,, +GARD:21873,Active,Orphanet,ORPHA:447874,Group of disorders,[Category],Biological anomaly without phenotypic characterization,,,,,,,,,,, +GARD:21874,Active,Orphanet,ORPHA:447881,Disorder,[Clinical syndrome],Idiopathic dropped head syndrome,[Isolated neck extensor myopathy],"A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.",,,,,,,,, +GARD:21875,Active,Orphanet,ORPHA:447980,Disorder,[Malformation syndrome],19p13.3 microduplication syndrome,[Dup(19)(p13.13)],"A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.",,,,,,,,, +GARD:21876,Active,Orphanet,ORPHA:447985,Group of disorders,[Category],Partial duplication of the short arm of chromosome 19,"[Partial duplication of chromosome 19p, Partial trisomy of chromosome 19p, Partial trisomy of the short arm of chromosome 19]",,,,,,,,,, +GARD:21877,Active,Orphanet,ORPHA:448270,Disorder,[Morphological anomaly],Ectopia cordis,,"A rare, life-threatening, congenital non-syndromic heart malformation characterized by complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.",,,,,,,,, +GARD:21878,Active,Orphanet,ORPHA:448426,Group of disorders,[Category],Genetic primary orthostatic hypotension,,,,,,,,,,, +GARD:21879,Active,Orphanet,ORPHA:449266,Disorder,[Particular clinical situation in a disease or syndrome],Pleural empyema,,"A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever.",,,,,,,,, +GARD:2188,Active,Orphanet,ORPHA:222,Disorder,[Disease],Erosive pustular dermatosis of the scalp,,"Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.",,,,,,Erosive pustular dermatosis of the scalp,TRUE,FALSE,Active +GARD:21880,Active,Orphanet,ORPHA:449280,Disorder,[Disease],Scedosporiosis,,"A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.",,,,,,,,, +GARD:21881,Active,Orphanet,ORPHA:449285,Disorder,[Disease],Snakebite envenomation,,,,,,,,,,, +GARD:21882,Active,Orphanet,ORPHA:449395,Subtype of disorder,[Clinical subtype],IgG4-related kidney disease,,"A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.",,,,,,,,, +GARD:21883,Active,Orphanet,ORPHA:449400,Subtype of disorder,[Clinical subtype],IgG4-related aortitis,,"A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.",,,,,,,,, +GARD:21884,Active,Orphanet,ORPHA:449432,Subtype of disorder,[Clinical subtype],IgG4-related submandibular gland disease,[Küttner tumor],,,,,,,,,, +GARD:21885,Active,Orphanet,ORPHA:449563,Subtype of disorder,[Clinical subtype],IgG4-related ophthalmic disease,,"A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.",,,,,,,,, +GARD:21886,Active,Orphanet,ORPHA:449566,Disorder,[Disease],Eosinophilic angiocentric fibrosis,[IgG4-related eosinophilic angiocentric fibrosis],"A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.",,,,,,,,, +GARD:21887,Active,Orphanet,ORPHA:450322,Disorder,[Clinical syndrome],Polyclonal hyperviscosity syndrome,,"A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.",,,,,,,,, +GARD:21888,Active,Orphanet,ORPHA:451602,Disorder,[Disease],Primary cutaneous plasmacytosis,,"A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.",,,,,,,,, +GARD:21889,Active,Orphanet,ORPHA:451607,Disorder,[Disease],Cutaneous pseudolymphoma,,"A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished.",,,,,,,,, +GARD:21890,Active,Orphanet,ORPHA:453510,Disorder,[Disease],Congenital insensitivity to pain with severe intellectual disability,"[Congenital absence of pain with severe intellectual disability, Congenital analgesia with severe intellectual disability, Congenital insensitivity to pain with preserved temperature sensation, Congenital insensitivity to pain with severe non-progressive cognitive delay]","Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.",,,,,,,,, +GARD:21891,Active,Orphanet,ORPHA:454706,Disorder,[Disease],Progressive muscular atrophy,[PMA],"A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.",,,,,,,,, +GARD:21892,Active,Orphanet,ORPHA:454710,Disorder,[Disease],Anti-p200 pemphigoid,,"A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.",,,,,,,,, +GARD:21893,Active,Orphanet,ORPHA:454723,Disorder,[Disease],Endometrioid carcinoma of ovary,,"A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.",,,,,,,,, +GARD:21894,Active,Orphanet,ORPHA:454742,Disorder,[Disease],Variably protease-sensitive prionopathy,,"A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.",,,,,,,,, +GARD:21895,Active,Orphanet,ORPHA:454750,Disorder,[Morphological anomaly],Isolated tracheoesophageal fistula,[H-type tracheoesophageal fistula],"A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.",,,,,,,,, +GARD:21896,Active,Orphanet,ORPHA:454831,Disorder,[Particular clinical situation in a disease or syndrome],Acute radiation syndrome,[Acute radiation sickness],,,,,,,,,, +GARD:21897,Active,Orphanet,ORPHA:454836,Disorder,[Disease],Avian influenza,,"A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.",,,,,,,,, +GARD:21898,Active,Orphanet,ORPHA:456298,Disorder,[Malformation syndrome],1p35.2 microdeletion syndrome,"[Del(1)(p35.2), Deletion 1p35.2, Monosomy 1p35.2]","A very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.",,,,,,,,, +GARD:21899,Active,Orphanet,ORPHA:456333,Disorder,[Disease],Hereditary neuroendocrine tumor of small intestine,[Hereditary neuroendocrine tumor of small bowel],"A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.",,,,,,,,, +GARD:219,Legacy,GARD,,,,,,,,,,,,Congenital giant megaureter,TRUE,FALSE,Active +GARD:21900,Active,Orphanet,ORPHA:457062,Group of disorders,[Clinical group],Pseudohypoparathyroidism without Albright hereditary osteodystrophy,,,,,,,,,,, +GARD:21901,Active,Orphanet,ORPHA:457074,Group of disorders,[Clinical group],Congenital nemaline myopathy,,,,,,,,,,, +GARD:21902,Active,Orphanet,ORPHA:457077,Disorder,[Disease],TAFRO syndrome,[Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome],"A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.",,,,,,,,, +GARD:21903,Active,Orphanet,ORPHA:457083,Disorder,[Morphological anomaly],Isolated splenogonadal fusion,[SGF],"A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.",,,,,,,,, +GARD:21904,Active,Orphanet,ORPHA:457205,Disorder,[Disease],Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,"[ANOAC, Axonal neuropathy-optic atrophy-cognitive deficit syndrome]","A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.",,,,,,,,, +GARD:21905,Active,Orphanet,ORPHA:457246,Disorder,[Disease],Clear cell sarcoma of kidney,[CCSK],"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.",,,,,,,,, +GARD:21906,Active,Orphanet,ORPHA:457365,Disorder,[Malformation syndrome],Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.",,,,,,,,, +GARD:21907,Active,Orphanet,ORPHA:458758,Disorder,[Disease],Composite hemangioendothelioma,,"A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.",,,,,,,,, +GARD:21908,Active,Orphanet,ORPHA:458763,Disorder,[Disease],Retiform hemangioendothelioma,,"A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.",,,,,,,,, +GARD:21909,Active,Orphanet,ORPHA:458768,Disorder,[Disease],Primary intralymphatic angioendothelioma,[Dabska tumor],"A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.",,,,,,,,, +GARD:2191,Active,Orphanet+OMIM,OMIM:609536,Subtype of disorder,[Disease subtype],Complement component 5 deficiency,[C5 deficiency],,[609536],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 5 deficiency,TRUE,FALSE,Active +GARD:21910,Active,Orphanet,ORPHA:458775,Group of disorders,[Clinical group],Congenital hemangioma,,,,,,,,,,, +GARD:21911,Active,Orphanet,ORPHA:458785,Disorder,[Disease],Partially involuting congenital hemangioma,,"A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.",,,,,,,,, +GARD:21912,Active,Orphanet,ORPHA:458792,Disorder,[Malformation syndrome],Mixed cystic lymphatic malformation,[Mixed cystic lymphangioma],"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,,,, +GARD:21913,Active,Orphanet,ORPHA:458827,Group of disorders,[Category],Vascular tumor with associated anomalies,,,,,,,,,,, +GARD:21914,Active,Orphanet,ORPHA:458830,Group of disorders,[Category],Rare capillary malformation with associated anomalies,,,,,,,,,,, +GARD:21915,Active,Orphanet,ORPHA:458833,Group of disorders,[Clinical group],Common cystic lymphatic malformation,,"A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.",,,,,,,,, +GARD:21916,Active,Orphanet,ORPHA:458837,Group of disorders,[Clinical group],Rare combined vascular malformation,,,,,,,,,,, +GARD:21917,Active,Orphanet,ORPHA:458844,Group of disorders,[Category],Rare vascular malformation of major vessels,,,,,,,,,,, +GARD:21918,Active,Orphanet,ORPHA:459074,Disorder,[Malformation syndrome],Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,"[7q36.3 microduplication syndrome, Dup(7)(q36.3)]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.",,,,,,,,, +GARD:21919,Active,Orphanet,ORPHA:459345,Group of disorders,[Category],Immunodeficiency due to a complement cascade component deficiency,,,,,,,,,,, +GARD:2192,Active,Orphanet,ORPHA:1954,Disorder,[Disease],Congenital lethal erythroderma,,"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.",[227090],,,,,Erythroderma lethal congenital,TRUE,FALSE,Retired +GARD:21920,Active,Orphanet,ORPHA:459348,Group of disorders,[Category],Immunodeficiency due to a complement regulatory deficiency,,,,,,,,,,, +GARD:21921,Active,Orphanet,ORPHA:459526,Group of disorders,[Category],Rare genetic capillary malformation,,,,,,,,,,, +GARD:21922,Active,Orphanet,ORPHA:459537,Group of disorders,[Category],Genetic complex vascular malformation with associated anomalies,[Genetic hemangiolymphangioma],,,,,,,,,, +GARD:21923,Active,Orphanet,ORPHA:459543,Group of disorders,[Category],Rare genetic vascular tumor,,,,,,,,,,, +GARD:21924,Active,Orphanet,ORPHA:459548,Group of disorders,[Category],Rare genetic venous malformation,,,,,,,,,,, +GARD:21925,Active,Orphanet,ORPHA:459787,Group of disorders,[Category],Lethal multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:21926,Active,Orphanet,ORPHA:464311,Subtype of disorder,[Etiological subtype],Intellectual disability syndrome due to a DYRK1A point mutation,[DYRK1A-related intellectual disability syndrome due to a point mutation],,,,,,,,,, +GARD:21927,Active,Orphanet,ORPHA:464318,Disorder,[Disease],Verrucous hemangioma,,"A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting.",,,,,,,,, +GARD:21928,Active,Orphanet,ORPHA:464359,Disorder,[Disease],Benign metanephric tumor,,,,,,,,,,, +GARD:21929,Active,Orphanet,ORPHA:464370,Disorder,[Disease],Neonatal alloimmune neutropenia,,"A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.",,,,,,,,, +GARD:21930,Active,Orphanet,ORPHA:464453,Disorder,[Disease],Acquired methemoglobinemia,[Drug-induced methemoglobinemia],"A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.",,,,,,,,, +GARD:21931,Active,Orphanet,ORPHA:464458,Disorder,[Particular clinical situation in a disease or syndrome],Paracetamol poisoning,[Acetaminophen poisoning],,,,,,,,,, +GARD:21932,Active,Orphanet,ORPHA:464756,Disorder,[Disease],Familial gastric type 1 neuroendocrine tumor,,"A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).",,,,,,,,, +GARD:21933,Active,Orphanet,ORPHA:464764,Group of disorders,[Clinical group],Immune-mediated acquired neuromuscular junction disease,,,,,,,,,,, +GARD:21934,Active,Orphanet,ORPHA:466066,Group of disorders,[Category],Genetic hemoglobinopathy,,,,,,,,,,, +GARD:21935,Active,Orphanet,ORPHA:466084,Group of disorders,[Category],Genetic otorhinolaryngologic disease,,,,,,,,,,, +GARD:21936,Active,Orphanet,ORPHA:466650,Disorder,[Disease],Exercise-induced malignant hyperthermia,[Exertional heat stroke],"A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.",,,,,,,,, +GARD:21937,Active,Orphanet,ORPHA:466658,Group of disorders,[Category],Rare disease with malignant hyperthermia,,,,,,,,,,, +GARD:21938,Active,Orphanet,ORPHA:466670,Disorder,[Particular clinical situation in a disease or syndrome],Cyanide poisoning,,,,,,,,,,, +GARD:21939,Active,Orphanet,ORPHA:466677,Disorder,[Disease],Scorpion envenomation,,"Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.",,,,,,,,, +GARD:21940,Active,Orphanet,ORPHA:466682,Disorder,[Disease],Euthyroid Graves orbitopathy,[Euthyroid Graves ophthalmopathy],"A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.",,,,,,,,, +GARD:21941,Active,Orphanet,ORPHA:466695,Disorder,[Morphological anomaly],Supratip dysplasia,,"Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.",,,,,,,,, +GARD:21942,Active,Orphanet,ORPHA:466921,Disorder,[Disease],Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,,"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.",,,,,,,,, +GARD:21943,Active,Orphanet,ORPHA:466962,Disorder,[Disease],SMARCA4-deficient sarcoma of thorax,[SMARCA4-deficient thoracic sarcoma],"A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.",,,,,,,,, +GARD:21944,Active,Orphanet,ORPHA:467166,Disorder,[Disease],Tubulinopathy-associated dysgyria,[Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome],"A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.",,,,,,,,, +GARD:21945,Active,Orphanet,ORPHA:468635,Disorder,[Disease],Cryptogenic multifocal ulcerous stenosing enteritis,[CMUSE],"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.",,,,,,,,, +GARD:21946,Active,Orphanet,ORPHA:468641,Disorder,[Disease],Chronic enteropathy associated with SLCO2A1 gene,[CEAS],"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.",,,,,,,,, +GARD:21947,Active,Orphanet,ORPHA:471383,Group of disorders,[Category],Genetic lethal multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:21948,Active,Orphanet,ORPHA:474347,Group of disorders,[Clinical group],Rare congenital anomaly of ventricular septum,"[Congenital anomaly of interventricular communication, Congenital ventricular septal anomaly]",,,,,,,,,, +GARD:21949,Active,Orphanet,ORPHA:476093,Disorder,[Disease],Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,,"A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.",,,,,,,,, +GARD:2195,Active,Orphanet,ORPHA:2405,Disorder,[Malformation syndrome],Thickened earlobes-conductive deafness syndrome,"[Escher-Hirt syndrome, Thickened earlobes-conductive hearing loss syndrome]","Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.",[128980],,,,,Escher Hirt syndrome,TRUE,FALSE,Retired +GARD:21950,Active,Orphanet,ORPHA:476096,Disorder,[Disease],Erythrokeratodermia-cardiomyopathy syndrome,[EKC syndrome],"Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.",,,,,,,,, +GARD:21951,Active,Orphanet,ORPHA:476109,Group of disorders,[Clinical group],Axonal hereditary motor and sensory neuropathy,[Axonal HMSN],,,,,,,,,, +GARD:21952,Active,Orphanet,ORPHA:476116,Group of disorders,[Clinical group],Demyelinating hereditary motor and sensory neuropathy,[Demyelinating HMSN],,,,,,,,,, +GARD:21953,Active,Orphanet,ORPHA:476119,Disorder,[Malformation syndrome],Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,,"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.",,,,,,,,, +GARD:21954,Active,Orphanet,ORPHA:476123,Group of disorders,[Clinical group],Intermediate Charcot-Marie-Tooth disease,"[Intermediate CMT, Intermediate hereditary motor and sensory neuropathy]",,,,,,,,,, +GARD:21955,Active,Orphanet,ORPHA:476403,Group of disorders,[Clinical group],Hypercontractile muscle stiffness syndrome,,,,,,,,,,, +GARD:21956,Active,Orphanet,ORPHA:476406,Disorder,[Disease],Congenital generalized hypercontractile muscle stiffness syndrome,,"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.",,,,,,,,, +GARD:21957,Active,Orphanet,ORPHA:477647,Group of disorders,[Category],Type 1 interferonopathy,,,,,,,,,,, +GARD:21958,Active,Orphanet,ORPHA:477650,Disorder,[Disease],Fibroblastic rheumatism,,"A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition.",,,,,,,,, +GARD:21959,Active,Orphanet,ORPHA:477742,Disorder,[Disease],Nodular fasciitis,"[Pseudosarcomatous fasciitis, Pseudosarcomatous fibromatosis]","A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.",,,,,,,,, +GARD:2196,Legacy,GARD,,,,,,,,,,,,Esophageal atresia coloboma talipes,TRUE,FALSE,Active +GARD:21960,Active,Orphanet,ORPHA:477754,Group of disorders,[Category],Genetic cerebral small vessel disease,,,,,,,,,,, +GARD:21961,Active,Orphanet,ORPHA:477759,Group of disorders,[Category],COL4A1 or COL4A2-related cerebral small vessel disease,[COL4A1 or COL4A2-related cerebral angiopathy],,,,,,,,,, +GARD:21962,Active,Orphanet,ORPHA:477762,Group of disorders,[Clinical group],COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy,[COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy],,,,,,,,,, +GARD:21963,Active,Orphanet,ORPHA:477765,Group of disorders,[Clinical group],COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy,[COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy],,,,,,,,,, +GARD:21964,Active,Orphanet,ORPHA:477768,Group of disorders,[Clinical group],Moyamoya angiopathy,,,,,,,,,,, +GARD:21965,Active,Orphanet,ORPHA:477771,Group of disorders,[Category],Rare disorder with a moyamoya angiopathy,,,,,,,,,,, +GARD:21966,Active,Orphanet,ORPHA:477781,Disorder,[Disease],Primary condylar hyperplasia,[Type 1 condylar hyperplasia],"A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.",,,,,,,,, +GARD:21967,Active,Orphanet,ORPHA:477794,Group of disorders,[Category],Syndromic constitutional thrombocytopenia,,,,,,,,,,, +GARD:21968,Active,Orphanet,ORPHA:477797,Group of disorders,[Category],Isolated constitutional thrombocytopenia,"[Constitutional thrombocytopenia without extra-hematopoietic manifestations, Non-syndromic constitutional thrombocytopenia]",,,,,,,,,, +GARD:21969,Active,Orphanet,ORPHA:477805,Group of disorders,[Category],Genetic cardiac malformation,,,,,,,,,,, +GARD:2197,Active,Orphanet,ORPHA:1957,Disorder,[Disease],Esthesioneuroblastoma,[Olfactory neuroblastoma],"Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.",,,,,,Olfactory neuroblastoma,TRUE,FALSE,Active +GARD:21970,Active,Orphanet,ORPHA:477808,Group of disorders,[Category],Other genetic dermis disorder,,,,,,,,,,, +GARD:21971,Active,Orphanet,ORPHA:477811,Group of disorders,[Category],Rare hypercholesterolemia,,,,,,,,,,, +GARD:21972,Active,Orphanet,ORPHA:480491,Subtype of disorder,[Clinical subtype],MYO5B-related progressive familial intrahepatic cholestasis,[MYO5B deficiency],,,,,,,,,, +GARD:21973,Active,Orphanet,ORPHA:480501,Disorder,[Morphological anomaly],Choledochal cyst,[Congenital cystic dilatation of the biliary tract],"A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.",,,,,,,,, +GARD:21974,Active,Orphanet,ORPHA:480506,Disorder,[Disease],Primary intrahepatic lithiasis,"[PIHL, Primary hepatolithiasis]","A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.",,,,,,,,, +GARD:21975,Active,Orphanet,ORPHA:480512,Disorder,[Disease],Idiopathic ductopenia,"[IAD, Idiopathic adult ductopenia]","A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.",,,,,,,,, +GARD:21976,Active,Orphanet,ORPHA:480520,Disorder,[Malformation syndrome],Caroli syndrome,,"A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.",,,,,,,,, +GARD:21977,Active,Orphanet,ORPHA:480524,Disorder,[Disease],Idiopathic peliosis hepatis,[Idiopathic peliosis hepatitis],"A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.",,,,,,,,, +GARD:21978,Active,Orphanet,ORPHA:480528,Disorder,[Malformation syndrome],Lethal hydranencephaly-diaphragmatic hernia syndrome,,"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.",,,,,,,,, +GARD:21979,Active,Orphanet,ORPHA:480531,Disorder,[Morphological anomaly],Congenital portosystemic shunt,[Congenital portosystemic venous fistula],"Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.",,,,,,,,, +GARD:2198,Active,Orphanet,ORPHA:51188,Disorder,[Disease],Ethylmalonic encephalopathy,,"Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.",[602473],,,,,Ethylmalonic encephalopathy,TRUE,FALSE,Active +GARD:21980,Active,Orphanet,ORPHA:480541,Disorder,[Disease],High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,,"A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.",,,,,,,,, +GARD:21981,Active,Orphanet,ORPHA:480549,Group of disorders,[Category],Non-severe combined immunodeficiency,[Non-SCID],,,,,,,,,, +GARD:21982,Active,Orphanet,ORPHA:480553,Disorder,[Disease],Aneurysmal bone cyst,,"A rare bone tumor characterized by a benign, cystic lesion consisting of blood-filled cavities divided by fibrous septa containing fibroblasts, multinucleated osteoclast-type giant cells, and reactive woven bone. The tumor may arise de novo or secondarily, complicating other benign or malignant bone tumors. It most commonly arises during the first two decades of life and often affects the epiphyses of long bones and posterior elements of vertebral bodies. Patients typically present with pain and swelling, or neurological symptoms due to compression of nerve roots or the spinal cord by vertebral tumors.",,,,,,,,, +GARD:21983,Active,Orphanet,ORPHA:480556,Disorder,[Disease],Isolated neonatal sclerosing cholangitis,,"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.",,,,,,,,, +GARD:21984,Active,Orphanet,ORPHA:480701,Disorder,[Disease],Facial diplegia with paresthesias,"[Facial diplegia with paresthesias variant of GBS, Facial diplegia with paresthesias variant of Guillain-Barré syndrome]","A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.",,,,,,,,, +GARD:21985,Active,Orphanet,ORPHA:481508,Group of disorders,[Category],Gastroenteric neuroendocrine neoplasm,,,,,,,,,,, +GARD:21986,Active,Orphanet,ORPHA:481671,Group of disorders,[Category],Type 1 interferonopathy of childhood,,,,,,,,,,, +GARD:21987,Active,Orphanet,ORPHA:481771,Group of disorders,[Category],Genetic alopecia,,,,,,,,,,, +GARD:21988,Active,Orphanet,ORPHA:482072,Group of disorders,[Clinical group],HTRA1-related cerebral small vessel disease,[HTRA1-related cerebral angiopathy],,,,,,,,,, +GARD:21989,Active,Orphanet,ORPHA:482092,Group of disorders,[Category],Rare idiopathic macular telangiectasia,,,,,,,,,,, +GARD:2199,Legacy,GARD,,,,,,,,,,,,Exencephaly,TRUE,FALSE,Active +GARD:21990,Active,Orphanet,ORPHA:482606,Disorder,[Malformation syndrome],X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,,"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.",,,,,,,,, +GARD:21991,Active,Orphanet,ORPHA:485358,Disorder,[Malformation syndrome],Propylthiouracil embryofetopathy,"[PTU embryofetopathy, PTU embryopathy, Propylthiouracil embryopathy]","Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).",,,,,,,,, +GARD:21992,Active,Orphanet,ORPHA:485382,Group of disorders,[Category],Genetic non-acquired premature ovarian failure,,,,,,,,,,, +GARD:21993,Active,Orphanet,ORPHA:485405,Disorder,[Malformation syndrome],16p12.1p12.3 triplication syndrome,"[Tetrasomy 16p12.1p12.3, Trip(16)(p12.1p12.3)]","16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.",,,,,,,,, +GARD:21994,Active,Orphanet,ORPHA:485418,Disorder,[Disease],EMILIN-1-related connective tissue disease,,"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.",,,,,,,,, +GARD:21995,Active,Orphanet,ORPHA:485426,Disorder,[Disease],Isolated congenital hepatic fibrosis,[Isolated CHF],"A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.",,,,,,,,, +GARD:21996,Active,Orphanet,ORPHA:485631,Group of disorders,[Clinical group],Congenital bile acid synthesis defect,[BASD],,,,,,,,,, +GARD:21997,Active,Orphanet,ORPHA:486955,Group of disorders,[Category],Rare pediatric rheumatologic disease,,,,,,,,,,, +GARD:21998,Active,Orphanet,ORPHA:487809,Disorder,[Disease],Pediatric collagenous gastritis,[Childhood-onset collagenous gastritis],"A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.",,,,,,,,, +GARD:21999,Active,Orphanet,ORPHA:487814,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,[CMT2 due to DGAT2 mutation],"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.",,,,,,,,, +GARD:22,Active,Orphanet,ORPHA:123,Disorder,[Disease],Björnstad syndrome,"[Deafness-pili torti-hypogonadism syndrome, Hearing loss-pili torti-hypogonadism syndrome]",Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.,[262000],,,,,Bjornstad syndrome,TRUE,FALSE,Active +GARD:220,Active,Orphanet,ORPHA:563,Disorder,[Disease],Peripartum cardiomyopathy,[Postpartum cardiomyopathy],"Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.",,,,,,Peripartum cardiomyopathy,TRUE,FALSE,Active +GARD:22000,Active,Orphanet,ORPHA:488239,Disorder,[Disease],Acute macular neuroretinopathy,[AMNR],"A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petalloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.",,,,,,,,, +GARD:22001,Active,Orphanet,ORPHA:488437,Disorder,[Malformation syndrome],SIX2-related frontonasal dysplasia,[SIX2-related FND],"A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.",,,,,,,,, +GARD:22002,Active,Orphanet,ORPHA:488586,Disorder,[Malformation syndrome],Congenital amyoplasia,[Amyoplasia congenita],"A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.",,,,,,,,, +GARD:22003,Active,Orphanet,ORPHA:494424,Disorder,[Morphological anomaly],Extracranial carotid artery aneurysm,"[ECAA, ECCA]","A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.",,,,,,,,, +GARD:22004,Active,Orphanet,ORPHA:494428,Disorder,[Disease],Idiopathic pleuroparenchymal fibroelastosis,"[IPPFE, Idiopathic pleuropulmonary fibroelastosis]","A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation.",,,,,,,,, +GARD:22005,Active,Orphanet,ORPHA:494448,Subtype of disorder,[Histopathological subtype],Vulvar squamous cell carcinoma,[Squamous cell carcinoma of the vulva],"A rare vulvar carcinoma characterized by an ulcer, nodule, macule, or pedunculated mass which is histologically composed of infiltrating islands of malignant squamous cells. Histological subtypes include keratinizing, non-keratinizing, basaloid, warty, and verrucous carcinomas. Some tumors are associated with human papilloma virus, smoking, high grade squamous intraepithelial lesion, chronic vulvar inflammatory disorders, or differentiated vulvar intraepithelial neoplasia. Patients may present with discharge, bleeding, or pain. Most important prognostic features are tumor depth and lymph node status.",,,,,,,,, +GARD:22006,Active,Orphanet,ORPHA:494451,Subtype of disorder,[Histopathological subtype],Vulvar basal cell carcinoma,[Basal cell carcinoma of vulva],"A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported.",,,,,,,,, +GARD:22007,Active,Orphanet,ORPHA:494454,Subtype of disorder,[Histopathological subtype],Vulvar adenocarcinoma,[Adenocarcinoma of the vulva],"A rare vulvar carcinoma characterized by a malignant epithelial neoplasm of glandular origin and/or with glandular characteristics arising in the vulva, including adenocarcinoma of mammary gland type, sweat gland type, and intestinal type, as well as adenocarcinomas of the Bartholin glands and Paget disease of the vulva. Depending on the type of tumor and disease stage, patients may present with a solitary vulvar mass, bleeding, or (in the case of Paget disease) a pruritic, erythematous, eczematous lesion.",,,,,,,,, +GARD:22008,Active,Orphanet,ORPHA:494457,Group of disorders,[Category],Rare hyperkinetic movement disorder,,,,,,,,,,, +GARD:22009,Active,Orphanet,ORPHA:495818,Disorder,[Malformation syndrome],9q33.3q34.11 microdeletion syndrome,"[Del(9)(q33.3q34.11), Deletion 9q33.3q34.11, Monosomy 9q33.3q34.11]","A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.",,,,,,,,, +GARD:22010,Active,Orphanet,ORPHA:495875,Disorder,[Malformation syndrome],Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,[Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.",,,,,,,,, +GARD:22011,Active,Orphanet,ORPHA:495879,Disorder,[Morphological anomaly],Congenital agenesis of the scrotum,"[Congenital absence of the scrotum, Congenital scrotal absence, Congenital scrotal agenesis]","A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.",,,,,,,,, +GARD:22012,Active,Orphanet,ORPHA:496689,Disorder,[Disease],Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,[Kyphoscoliosis-lateral tongue atrophy-HSP syndrome],"A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.",,,,,,,,, +GARD:22013,Active,Orphanet,ORPHA:496916,Group of disorders,[Category],Rare genetic hyperkinetic movement disorder,,,,,,,,,,, +GARD:22014,Active,Orphanet,ORPHA:496924,Group of disorders,[Category],Non-inflammatory vasculopathy,,,,,,,,,,, +GARD:22015,Active,Orphanet,ORPHA:497623,Group of disorders,[Clinical group],C12ORF65-related combined oxidative phosphorylation defect,[C12ORF65-related COXPD],,,,,,,,,, +GARD:22016,Active,Orphanet,ORPHA:497737,Disorder,[Disease],Epidermolytic nevus,"[Epidermal nevus with epidermolytic hyperkeratosis, Epidermolytic epidermal nevus, Epidermolytic verrucous epidermal nevus]","A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.",,,,,,,,, +GARD:22017,Active,Orphanet,ORPHA:498251,Disorder,[Disease],Menstrual cycle-dependent periodic fever,"[Luteal-phase-dependent febrile episode, Luteal-phase-dependent periodic fever, Menstrual cycle-dependent febrile episode]",A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.,,,,,,,,, +GARD:22018,Active,Orphanet,ORPHA:498345,Group of disorders,[Category],Biliary atresia and associated disorders,,,,,,,,,,, +GARD:22019,Active,Orphanet,ORPHA:498350,Group of disorders,[Clinical group],Syndromic biliary atresia,,,,,,,,,,, +GARD:2202,Active,Orphanet,ORPHA:1962,Disorder,[Malformation syndrome],Exostoses-anetodermia-brachydactyly type E syndrome,,"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.",[133690],,,,,Exostoses anetodermia brachydactyly type E,TRUE,FALSE,Retired +GARD:22020,Active,Orphanet,ORPHA:498445,Group of disorders,[Category],Genetic inflammatory or rheumatoid-like osteoarthropathy,,,,,,,,,,, +GARD:22021,Active,Orphanet,ORPHA:498448,Group of disorders,[Category],Overgrowth or tall stature syndrome with skeletal involvement,,,,,,,,,,, +GARD:22022,Active,Orphanet,ORPHA:498451,Group of disorders,[Category],Dysostosis with brachydactyly without extraskeletal manifestations,,,,,,,,,,, +GARD:22023,Active,Orphanet,ORPHA:498454,Group of disorders,[Category],Dysostosis with brachydactyly with extraskeletal manifestations,,,,,,,,,,, +GARD:22024,Active,Orphanet,ORPHA:498457,Group of disorders,[Category],Longitudinal limb defect,,,,,,,,,,, +GARD:22025,Active,Orphanet,ORPHA:498461,Group of disorders,[Category],Terminal transverse limb defect,,,,,,,,,,, +GARD:22026,Active,Orphanet,ORPHA:498464,Group of disorders,[Category],Non-syndromic preaxial polydactyly,,,,,,,,,,, +GARD:22027,Active,Orphanet,ORPHA:498467,Group of disorders,[Category],Non-syndromic postaxial polydactyly,,,,,,,,,,, +GARD:22028,Active,Orphanet,ORPHA:498470,Group of disorders,[Category],Non-syndromic complex polydactyly,,,,,,,,,,, +GARD:22029,Active,Orphanet,ORPHA:498474,Disorder,[Disease],Hyaline fibromatosis syndrome,,"A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive.",,,,,,,,, +GARD:22030,Active,Orphanet,ORPHA:498477,Group of disorders,[Category],Ectrodactyly with and without other manifestations,,,,,,,,,,, +GARD:22031,Active,Orphanet,ORPHA:498481,Disorder,[Malformation syndrome],LRP5-related primary osteoporosis,,"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.",,,,,,,,, +GARD:22032,Active,Orphanet,ORPHA:498488,Disorder,[Malformation syndrome],Overgrowth syndrome with 2q37 translocation,,"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.",,,,,,,,, +GARD:22033,Active,Orphanet,ORPHA:498491,Group of disorders,[Category],Complete hemimelia,,,,,,,,,,, +GARD:22034,Active,Orphanet,ORPHA:498494,Disorder,[Morphological anomaly],Mirror-image polydactyly,,"A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.",,,,,,,,, +GARD:22035,Active,Orphanet,ORPHA:498693,Disorder,[Disease],MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,[MYBPC1-related autosomal recessive non-lethal AMC syndrome],"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fulness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.",,,,,,,,, +GARD:22036,Active,Orphanet,ORPHA:499009,Disorder,[Disease],Congenital syphilis,"[MTCT of syphilis, Mother-to-child transmission of syphilis]","A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.",,,,,,,,, +GARD:22037,Active,Orphanet,ORPHA:499047,Group of disorders,[Clinical group],Autoimmune/inflammatory optic neuropathy,,,,,,,,,,, +GARD:22038,Active,Orphanet,ORPHA:499085,Disorder,[Disease],Chronic relapsing inflammatory optic neuropathy,"[CRION, Chronic recurrent isolated optic neuritis]","A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.",,,,,,,,, +GARD:22039,Active,Orphanet,ORPHA:499096,Disorder,[Disease],Isolated optic neuritis,[ION],"A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.",,,,,,,,, +GARD:2204,Active,Orphanet+OMIM,OMIM:133700,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type i","[multiple osteochondromas, multiple cartilaginous exostoses, osteochondromatosis, diaphyseal aclasis, Ext]","Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent ({32:Peterson, 1989}).\n\nTwo conditions in which multiple exostoses occur are metachondromatosis ({156250}) and the Langer-Giedion syndrome (LGS; {150230}); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; {135100}), occipital horn syndrome ({304150}), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent ({40:Silverman, 1985}).\n\n<Subhead> Genetic Heterogeneity of Multiple Exostoses\n\nMultiple exostoses type II (EXT2; {133701}) is caused by mutation in the EXT2 gene ({608210}) on chromosome 11p11. Multiple exostoses type III (EXT3; {600209}) has been mapped to a locus on chromosome 19.",[133700],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 1",TRUE,FALSE,Active +GARD:22040,Active,Orphanet,ORPHA:499103,Disorder,[Disease],Recurrent idiopathic neuroretinitis,[RINR],"A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.",,,,,,,,, +GARD:22041,Active,Orphanet,ORPHA:499107,Disorder,[Disease],Idiopathic optic perineuritis,[Idiopathic OPN],"A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.",,,,,,,,, +GARD:22042,Active,Orphanet,ORPHA:499182,Disorder,[Disease],Pilomatrix carcinoma,"[Calcified epithelial carcinoma of Malherbe, Calcifying epitheliocarcinoma, Malignant pilomatricoma, Trichomatrical carcinoma]","A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.",,,,,,,,, +GARD:22043,Active,Orphanet,ORPHA:500163,Disorder,[Malformation syndrome],Witteveen-Kolk syndrome,"[SIN3A-related intellectual disability syndrome, WITKOS]","A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.",,,,,,,,, +GARD:22044,Active,Orphanet,ORPHA:502305,Disorder,[Morphological anomaly],Cochleovestibular malformation,,"A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.",,,,,,,,, +GARD:22045,Active,Orphanet,ORPHA:502318,Disorder,[Morphological anomaly],Cochlear nerve deficiency,,"A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.",,,,,,,,, +GARD:22046,Active,Orphanet,ORPHA:502369,Group of disorders,[Category],Squamous cell carcinoma of oral cavity and lip,,,,,,,,,,, +GARD:22047,Active,Orphanet,ORPHA:502430,Disorder,[Malformation syndrome],Metopic ridging-ptosis-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.",,,,,,,,, +GARD:22048,Active,Orphanet,ORPHA:502437,Disorder,[Malformation syndrome],4q25 proximal deletion syndrome,"[Proximal del(4)(q25), Proximal monosomy 4q25]","A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.",,,,,,,,, +GARD:22049,Active,Orphanet,ORPHA:502499,Disorder,[Disease],Erythema multiforme major,"[Erythema exsudativum multiforme majus, Erythema multiforme majus]","A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.",,,,,,,,, +GARD:2205,Active,Orphanet+OMIM,OMIM:133701,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type ii",,"Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 ({133700}).",[133701],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 2",TRUE,FALSE,Active +GARD:22050,Active,Orphanet,ORPHA:505208,Disorder,[Disease],3-methylglutaconic aciduria type 8,[MGA8],"A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.",,,,,,,,, +GARD:22051,Active,Orphanet,ORPHA:505395,Disorder,[Particular clinical situation in a disease or syndrome],Ventilator-induced diaphragmatic dysfunction,[VIDD],,,,,,,,,, +GARD:22052,Active,Orphanet,ORPHA:506052,Group of disorders,[Category],Neuroendocrine neoplasm of pancreas,"[PNEN, Pancreatic NEN, Pancreatic neuroendocrine neoplasm]",,,,,,,,,, +GARD:22053,Active,Orphanet,ORPHA:506060,Group of disorders,[Category],Functioning neuroendocrine tumor of pancreas,"[Functioning PNET, Functioning pancreatic NET, Functioning pancreatic neuroendocrine tumor, Functioning well-differentiated NEN of pancreas, Functioning well-differentiated neuroendocrine neoplasm of pancreas, Functioning well-differentiated pancreatic NEN, Functioning well-differentiated pancreatic neuroendocrine neoplasm]",,,,,,,,,, +GARD:22054,Active,Orphanet,ORPHA:506075,Disorder,[Disease],Non-functioning neuroendocrine tumor of pancreas,"[Non-functioning PNET, Non-functioning pancreatic NET, Non-functioning pancreatic neuroendocrine tumor, Non-functioning well-differentiated NEN of pancreas, Non-functioning well-differentiated neuroendocrine neoplasm of pancreas, Non-functioning well-differentiated pancreatic NEN, Non-functioning well-differentiated pancreatic neuroendocrine neoplasm]","A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence.",,,,,,,,, +GARD:22055,Active,Orphanet,ORPHA:506090,Disorder,[Disease],Serotonin-producing neuroendocrine tumor of pancreas,"[Serotonin-producing PNET, Serotonin-producing pancreatic NET, Serotonin-producing pancreatic neuroendocrine tumor]","A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic.",,,,,,,,, +GARD:22056,Active,Orphanet,ORPHA:506098,Disorder,[Disease],Neuroendocrine carcinoma of pancreas,"[Pancreatic NEC, Pancreatic neuroendocrine carcinoma, Poorly-differentiated NEN of pancreas, Poorly-differentiated neuroendocrine neoplasm of pancreas, Poorly-differentiated pancreatic NEN, Poorly-differentiated pancreatic neuroendocrine neoplasm]","A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (>60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis.",,,,,,,,, +GARD:22057,Active,Orphanet,ORPHA:506112,Disorder,[Disease],Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,"[MiNEN of pancreas, Pancreatic MiNEN, Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm]","A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.",,,,,,,,, +GARD:22058,Active,Orphanet,ORPHA:506136,Disorder,[Disease],Neuroendocrine neoplasm of esophagus,"[Esophageal NEN, Esophageal neuroendocrine neoplasm, NEN of esophagus]","A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.",,,,,,,,, +GARD:22059,Active,Orphanet,ORPHA:506207,Group of disorders,[Category],Rare disorder potentially indicated for transplant,,"A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.",,,,,,,,, +GARD:2206,Active,Orphanet+OMIM,OMIM:600209,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type iii",,"For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see ({133700}).",[600209],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 3",TRUE,FALSE,Active +GARD:22060,Active,Orphanet,ORPHA:506210,Group of disorders,[Category],Rare disorder potentially indicated for liver transplant,,,,,,,,,,, +GARD:22061,Active,Orphanet,ORPHA:506213,Group of disorders,[Category],Rare disorder potentially indicated for kidney transplant,,,,,,,,,,, +GARD:22062,Active,Orphanet,ORPHA:506216,Group of disorders,[Category],Rare disorder potentially indicated for bowel transplant,,,,,,,,,,, +GARD:22063,Active,Orphanet,ORPHA:506219,Group of disorders,[Category],Rare disorder potentially indicated for hematopoietic stem cell transplant,,,,,,,,,,, +GARD:22064,Active,Orphanet,ORPHA:506222,Group of disorders,[Category],Rare disorder potentially indicated for lung transplant,,,,,,,,,,, +GARD:22065,Active,Orphanet,ORPHA:506225,Group of disorders,[Category],Rare disorder potentially indicated for heart transplant,,,,,,,,,,, +GARD:22066,Active,Orphanet,ORPHA:506784,Subtype of disorder,[Clinical subtype],Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,"[SJS/TEN overlap syndrome, Stevens-Johnson/TEN overlap syndrome, Stevens-Johnson/toxic epidermal necrolysis overlap syndrome]",,,,,,,,,, +GARD:22067,Active,Orphanet,ORPHA:508410,Disorder,[Morphological anomaly],Familial intestinal malrotation,,"A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.",,,,,,,,, +GARD:22068,Active,Orphanet,ORPHA:508476,Disorder,[Malformation syndrome],Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,"[Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome, Hyaluronidase 2 deficiency]","A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.",,,,,,,,, +GARD:22069,Active,Orphanet,ORPHA:508501,Disorder,[Malformation syndrome],Oral-facial-digital syndrome with short stature and brachymesophalangy,"[OFD18, Oral-facial-digital syndrome type 18, Orofaciodigital syndrome type 18]","A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.",,,,,,,,, +GARD:2207,Active,Orphanet,ORPHA:322,Disorder,[Malformation syndrome],Exstrophy-epispadias complex,"[BEEC, Bladder exstrophy-epispadias-cloacal extrophy complex, EEC]","Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.","[258040, 600057]",,,,,Exstrophy-epispadias complex,TRUE,FALSE,Active +GARD:22070,Active,Orphanet,ORPHA:508533,Disorder,[Disease],Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,"[EXTL3-related neuro-immuno-skeletal dysplasia syndrome, Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.",,,,,,,,, +GARD:22071,Active,Orphanet,ORPHA:508542,Disorder,[Disease],Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,[MYSM1 deficiency],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.",,,,,,,,, +GARD:22072,Active,Orphanet,ORPHA:512017,Disorder,[Disease],Chronic lymphoproliferative disorder of natural killer cells,"[CLPD-NK, CNKL, Chronic NK lymphocytosis, Chronic NK-cell lymphocytosis, Chronic lymphoproliferative disorder of NK-cells, NK-cell lineage granular lymphocyte proliferative disorder]","A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.",,,,,,,,, +GARD:22073,Active,Orphanet,ORPHA:512034,Group of disorders,[Clinical group],Large granular lymphocyte leukemia,,,,,,,,,,, +GARD:22074,Active,Orphanet,ORPHA:512103,Disorder,[Disease],Autosomal recessive epidermolytic ichthyosis,[AREI],"A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.",,,,,,,,, +GARD:22075,Active,Orphanet,ORPHA:512260,Disorder,[Disease],Congenital cerebellar ataxia due to RNU12 mutation,,"A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.",,,,,,,,, +GARD:22076,Active,Orphanet,ORPHA:514352,Disorder,[Malformation syndrome],Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,[Serpentine-like syndrome],"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.",,,,,,,,, +GARD:22077,Active,Orphanet,ORPHA:514980,Group of disorders,[Clinical group],ATP13A2-related parkinsonism,,,,,,,,,,, +GARD:22078,Active,Orphanet,ORPHA:519264,Group of disorders,[Category],Inflammatory/autoimmune disorder involving the lacrimal system,,,,,,,,,,, +GARD:22079,Active,Orphanet,ORPHA:519266,Group of disorders,[Category],Rare disorder of the ocular adnexa,,,,,,,,,,, +GARD:2208,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, autosomal dominant",TRUE,FALSE,Retired +GARD:22080,Active,Orphanet,ORPHA:519268,Group of disorders,[Category],Rare disorder with ectropion,,,,,,,,,,, +GARD:22081,Active,Orphanet,ORPHA:519270,Group of disorders,[Category],Rare disorder with entropion,,,,,,,,,,, +GARD:22082,Active,Orphanet,ORPHA:519272,Group of disorders,[Category],Structural developmental eye defect,,,,,,,,,,, +GARD:22083,Active,Orphanet,ORPHA:519274,Group of disorders,[Category],Syndromic lacrimal system disorder,,,,,,,,,,, +GARD:22084,Active,Orphanet,ORPHA:519276,Group of disorders,[Category],Anterior segment developmental abnormality with extraocular manifestations,,,,,,,,,,, +GARD:22085,Active,Orphanet,ORPHA:519278,Group of disorders,[Category],Infective keratitis,,,,,,,,,,, +GARD:22086,Active,Orphanet,ORPHA:519280,Group of disorders,[Category],Rare conjunctivitis,,,,,,,,,,, +GARD:22087,Active,Orphanet,ORPHA:519282,Group of disorders,[Category],Rare corneal disorder,,,,,,,,,,, +GARD:22088,Active,Orphanet,ORPHA:519284,Group of disorders,[Category],Rare disorder of the anterior segment of the eye,,,,,,,,,,, +GARD:22089,Active,Orphanet,ORPHA:519286,Group of disorders,[Category],Rare disorder of the pupil,,,,,,,,,,, +GARD:2209,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, autosomal recessive",TRUE,FALSE,Retired +GARD:22090,Active,Orphanet,ORPHA:519288,Group of disorders,[Category],Rare disorder with corneal involvement as a major feature,,,,,,,,,,, +GARD:22091,Active,Orphanet,ORPHA:519290,Group of disorders,[Category],Rare inflammatory/autoimmune corneal disorder,,,,,,,,,,, +GARD:22092,Active,Orphanet,ORPHA:519292,Group of disorders,[Category],Syndromic ectopia lentis,,,,,,,,,,, +GARD:22093,Active,Orphanet,ORPHA:519294,Group of disorders,[Category],Syndromic microspherophakia,,,,,,,,,,, +GARD:22094,Active,Orphanet,ORPHA:519296,Group of disorders,[Category],Rare disorder with pigmented sclera,,,,,,,,,,, +GARD:22095,Active,Orphanet,ORPHA:519298,Group of disorders,[Category],Rare scleral disorder,,,,,,,,,,, +GARD:22096,Active,Orphanet,ORPHA:519300,Group of disorders,[Category],Isolated chorioretinal dystrophy,,,,,,,,,,, +GARD:22097,Active,Orphanet,ORPHA:519302,Group of disorders,[Category],Isolated macular dystrophy,,,,,,,,,,, +GARD:22098,Active,Orphanet,ORPHA:519304,Group of disorders,[Category],Isolated vitreoretinopathy,,,,,,,,,,, +GARD:22099,Active,Orphanet,ORPHA:519306,Group of disorders,[Category],Isolated progressive inherited retinal disorder,,,,,,,,,,, +GARD:221,Active,Orphanet,ORPHA:217604,Group of disorders,[Category],Dilated cardiomyopathy,,,,,,,,Dilated cardiomyopathy,TRUE,FALSE,Active +GARD:2210,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, X-linked, recessive",TRUE,FALSE,Retired +GARD:22100,Active,Orphanet,ORPHA:519309,Group of disorders,[Category],Rare choroidal disorder,,,,,,,,,,, +GARD:22101,Active,Orphanet,ORPHA:519311,Group of disorders,[Category],Rare disorder of the posterior segment of the eye,,,,,,,,,,, +GARD:22102,Active,Orphanet,ORPHA:519313,Group of disorders,[Category],Rare macular disorder,,,,,,,,,,, +GARD:22103,Active,Orphanet,ORPHA:519315,Group of disorders,[Category],Rare retinal disorder,,,,,,,,,,, +GARD:22104,Active,Orphanet,ORPHA:519317,Group of disorders,[Category],Rare retinal vasculopathy,,,,,,,,,,, +GARD:22105,Active,Orphanet,ORPHA:519319,Group of disorders,[Category],Isolated stationary inherited retinal disorder,,,,,,,,,,, +GARD:22106,Active,Orphanet,ORPHA:519321,Group of disorders,[Category],Syndromic chorioretinal dystrophy,,,,,,,,,,, +GARD:22107,Active,Orphanet,ORPHA:519323,Group of disorders,[Category],Syndromic macular dystrophy,,,,,,,,,,, +GARD:22108,Active,Orphanet,ORPHA:519325,Group of disorders,[Category],Syndromic inherited retinal disorder,[Syndromic retinal dystrophy],,,,,,,,,, +GARD:22109,Active,Orphanet,ORPHA:519327,Group of disorders,[Category],Syndromic vitreoretinopathy,,,,,,,,,,, +GARD:2211,Legacy,GARD,,,,,,,,,,,,"Exudative retinopathy, familial",TRUE,FALSE,Retired +GARD:22110,Active,Orphanet,ORPHA:519329,Group of disorders,[Category],Rare disorder involving multiple structures of the eye,,,,,,,,,,, +GARD:22111,Active,Orphanet,ORPHA:519331,Group of disorders,[Category],Secondary early-onset glaucoma,,,,,,,,,,, +GARD:22112,Active,Orphanet,ORPHA:519333,Group of disorders,[Category],Congenital optic disc excavation,,,,,,,,,,, +GARD:22113,Active,Orphanet,ORPHA:519337,Group of disorders,[Category],Disorder with optic nerve compression,,,,,,,,,,, +GARD:22114,Active,Orphanet,ORPHA:519339,Group of disorders,[Category],Pseudopapilledema,,,,,,,,,,, +GARD:22115,Active,Orphanet,ORPHA:519341,Group of disorders,[Category],Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature,,,,,,,,,,, +GARD:22116,Active,Orphanet,ORPHA:519343,Group of disorders,[Category],Rare ophthalmic disorder with cortical involvement,,,,,,,,,,, +GARD:22117,Active,Orphanet,ORPHA:519345,Group of disorders,[Category],Rare disorder with optic disc malformation,,,,,,,,,,, +GARD:22118,Active,Orphanet,ORPHA:519347,Group of disorders,[Category],Rare neuromuscular disorder with ocular motility/alignment anomaly,,,,,,,,,,, +GARD:22119,Active,Orphanet,ORPHA:519349,Group of disorders,[Category],Rare ophthalmic disorder with cranial nerve involvement,,,,,,,,,,, +GARD:22120,Active,Orphanet,ORPHA:519351,Group of disorders,[Category],Rare optic nerve disorder,,,,,,,,,,, +GARD:22121,Active,Orphanet,ORPHA:519353,Group of disorders,[Category],Rare trochlear nerve disorder,,,,,,,,,,, +GARD:22122,Active,Orphanet,ORPHA:519355,Group of disorders,[Category],Rare ocular motility/alignment disorder,,,,,,,,,,, +GARD:22123,Active,Orphanet,ORPHA:519386,Disorder,[Morphological anomaly],Isolated congenital entropion,,"A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.",,,,,,,,, +GARD:22124,Active,Orphanet,ORPHA:519390,Disorder,[Disease],Isolated blepharochalasis,,"A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis.",,,,,,,,, +GARD:22125,Active,Orphanet,ORPHA:519392,Disorder,[Disease],Isolated iridoschisis,,"A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. The inferior part of the iris is most commonly involved.",,,,,,,,, +GARD:22126,Active,Orphanet,ORPHA:519396,Disorder,[Morphological anomaly],Isolated microspherophakia,,"A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.",,,,,,,,, +GARD:22127,Active,Orphanet,ORPHA:519398,Disorder,[Morphological anomaly],Isolated foveal hypoplasia,,"A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.",,,,,,,,, +GARD:22128,Active,Orphanet,ORPHA:519400,Disorder,[Morphological anomaly],Peripapillary staphyloma,,"A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.",,,,,,,,, +GARD:22129,Active,Orphanet,ORPHA:519402,Disorder,[Morphological anomaly],Isolated megalopapilla,,"A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.",,,,,,,,, +GARD:2213,Active,Orphanet,ORPHA:1964,Disorder,[Malformation syndrome],Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,[Char-Douglas-Dungan syndrome],"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.",[133750],,,,,Extrasystoles short stature hyperpigmentation microcephaly,TRUE,FALSE,Active +GARD:22130,Active,Orphanet,ORPHA:519404,Disorder,[Morphological anomaly],Optic disc pit,,"A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.",,,,,,,,, +GARD:22131,Active,Orphanet,ORPHA:519406,Disorder,[Disease],Thygeson superficial punctate keratitis,[Thygeson superficial punctate keratopathy],"A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years.",,,,,,,,, +GARD:22132,Active,Orphanet,ORPHA:519408,Disorder,[Disease],Mooren ulcer,,"A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation.",,,,,,,,, +GARD:22133,Active,Orphanet,ORPHA:519410,Disorder,[Disease],Terrien marginal degeneration,,"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation.",,,,,,,,, +GARD:22134,Active,Orphanet,ORPHA:519930,Disorder,[Disease],Fungal keratitis,"[Keratomycosis, Mycotic keratitis]","A rare disorder of the anterior segment of the eye characterized by ocular infection by human-pathogenic fungi, most commonly Aspergillus, Candida, or Fusarium species, which gain access into the corneal stroma through a defect in the corneal epithelium. Risk factors include trauma, ocular surface disease, contact lenses, or immunocompromised state. Patients present with pain, foreign body sensation, redness, photophobia, tearing, secretion, or blurred vision. The condition may be complicated by corneal destruction and perforation, endophthalmitis, scleritis, and panophthalmitis.",,,,,,,,, +GARD:22135,Active,Orphanet,ORPHA:520814,Group of disorders,[Category],Rare disorder of the visual organs,,,,,,,,,,, +GARD:22136,Active,Orphanet,ORPHA:520817,Group of disorders,[Category],Isolated inherited retinal disorder,,,,,,,,,,, +GARD:22137,Active,Orphanet,ORPHA:521123,Disorder,[Disease],Radiation-induced plexopathy,,"A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.",,,,,,,,, +GARD:22138,Active,Orphanet,ORPHA:521127,Disorder,[Disease],Osteoradionecrosis of the mandible,,"A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, and local suppuration. Complications include pathological fractures, formation of intra- or extra-oral fistulae, and infection. MRI shows cortical destruction, abnormal bone marrow signal, and irregular contrast enhancement.",,,,,,,,, +GARD:22139,Active,Orphanet,ORPHA:521132,Group of disorders,[Category],Radiation-induced disorder,,,,,,,,,,, +GARD:22140,Active,Orphanet,ORPHA:521232,Group of disorders,[Category],Genetic primary orthostatic disorder,,,,,,,,,,, +GARD:22141,Active,Orphanet,ORPHA:521236,Group of disorders,[Category],Primary orthostatic disorder,,,,,,,,,,, +GARD:22142,Active,Orphanet,ORPHA:521308,Disorder,[Malformation syndrome],Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,,"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.",,,,,,,,, +GARD:22143,Active,Orphanet,ORPHA:521411,Disorder,[Disease],Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,[Autosomal recessive axonal CMT due to copper metabolism defect],"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.",,,,,,,,, +GARD:22144,Active,Orphanet,ORPHA:521432,Disorder,[Disease],Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,,"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.",,,,,,,,, +GARD:22145,Active,Orphanet,ORPHA:521445,Disorder,[Malformation syndrome],Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,,,,,,,,,,, +GARD:22146,Active,Orphanet,ORPHA:521450,Disorder,[Disease],LAMA5-related multisystemic syndrome,,"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.",,,,,,,,, +GARD:22147,Active,Orphanet,ORPHA:522037,Disorder,[Disease],Primary autoimmune enteropathy,,"A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.",,,,,,,,, +GARD:22148,Active,Orphanet,ORPHA:522043,Group of disorders,[Clinical group],Syndromic autoimmune enteropathy,,,,,,,,,,, +GARD:22149,Active,Orphanet,ORPHA:522504,Group of disorders,[Category],Rare genetic disorder of the visual organs,,,,,,,,,,, +GARD:22150,Active,Orphanet,ORPHA:522506,Group of disorders,[Category],Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature,,,,,,,,,,, +GARD:22151,Active,Orphanet,ORPHA:522508,Group of disorders,[Category],Rare genetic ophthalmic disorder with cortical involvement,,,,,,,,,,, +GARD:22152,Active,Orphanet,ORPHA:522510,Group of disorders,[Category],Rare genetic ophthalmic disorder with cranial nerve involvement,,,,,,,,,,, +GARD:22153,Active,Orphanet,ORPHA:522512,Group of disorders,[Category],Rare genetic optic nerve disorder,,,,,,,,,,, +GARD:22154,Active,Orphanet,ORPHA:522514,Group of disorders,[Category],Congenital optic disc excavation of genetic origin,,,,,,,,,,, +GARD:22155,Active,Orphanet,ORPHA:522516,Group of disorders,[Category],Rare genetic ocular motility/alignment disorder,,,,,,,,,,, +GARD:22156,Active,Orphanet,ORPHA:522518,Group of disorders,[Category],Rare genetic disorder with strabismus,,,,,,,,,,, +GARD:22157,Active,Orphanet,ORPHA:522520,Group of disorders,[Category],Syndromic genetic disorder with strabismus,,,,,,,,,,, +GARD:22158,Active,Orphanet,ORPHA:522522,Group of disorders,[Category],Rare genetic neuromuscular disorder with ocular motility/alignment anomaly,,,,,,,,,,, +GARD:22159,Active,Orphanet,ORPHA:522524,Group of disorders,[Category],Rare genetic disorder of the ocular adnexa,,,,,,,,,,, +GARD:2216,Active,Orphanet,ORPHA:3172,Disorder,[Malformation syndrome],Eyebrow duplication-syndactyly syndrome,,"Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.",[227210],,,,,"Eyebrows duplication of, with stretchable skin and syndactyly",TRUE,FALSE,Active +GARD:22160,Active,Orphanet,ORPHA:522526,Group of disorders,[Category],Rare genetic palpebral disorder,,,,,,,,,,, +GARD:22161,Active,Orphanet,ORPHA:522528,Group of disorders,[Category],Rare genetic eyelid malposition disorder,,,,,,,,,,, +GARD:22162,Active,Orphanet,ORPHA:522530,Group of disorders,[Category],Rare genetic disorder with entropion,,,,,,,,,,, +GARD:22163,Active,Orphanet,ORPHA:522532,Group of disorders,[Category],Rare genetic disorder of the lacrimal apparatus,,,,,,,,,,, +GARD:22164,Active,Orphanet,ORPHA:522534,Group of disorders,[Category],Lacrimal drainage system anomaly of genetic origin,,,,,,,,,,, +GARD:22165,Active,Orphanet,ORPHA:522536,Group of disorders,[Category],Structural developmental eye defect of genetic origin,,,,,,,,,,, +GARD:22166,Active,Orphanet,ORPHA:522538,Group of disorders,[Category],Rare genetic disorder of the anterior segment of the eye,,,,,,,,,,, +GARD:22167,Active,Orphanet,ORPHA:522540,Group of disorders,[Category],Anterior segment developmental anomaly of genetic origin,,,,,,,,,,, +GARD:22168,Active,Orphanet,ORPHA:522542,Group of disorders,[Category],Rare genetic disorder with conjunctival involvement as a major feature,,,,,,,,,,, +GARD:22169,Active,Orphanet,ORPHA:522546,Group of disorders,[Category],Rare genetic disorder with lens opacification,,,,,,,,,,, +GARD:22170,Active,Orphanet,ORPHA:522548,Group of disorders,[Category],Syndromic genetic cataract,,,,,,,,,,, +GARD:22171,Active,Orphanet,ORPHA:522550,Group of disorders,[Category],Lens size anomaly of genetic origin,,,,,,,,,,, +GARD:22172,Active,Orphanet,ORPHA:522552,Group of disorders,[Category],Lens position anomaly of genetic origin,,,,,,,,,,, +GARD:22173,Active,Orphanet,ORPHA:522554,Group of disorders,[Category],Syndromic genetic ectopia lentis,,,,,,,,,,, +GARD:22174,Active,Orphanet,ORPHA:522556,Group of disorders,[Category],Rare genetic corneal disorder,,,,,,,,,,, +GARD:22175,Active,Orphanet,ORPHA:522558,Group of disorders,[Category],Rare genetic disorder with corneal involvement as a major feature,,,,,,,,,,, +GARD:22176,Active,Orphanet,ORPHA:522560,Group of disorders,[Category],Genetic corneal dystrophy,,,,,,,,,,, +GARD:22177,Active,Orphanet,ORPHA:522562,Group of disorders,[Category],Genetic superficial corneal dystrophy,,,,,,,,,,, +GARD:22178,Active,Orphanet,ORPHA:522564,Group of disorders,[Category],Syndromic genetic keratoconus,,,,,,,,,,, +GARD:22179,Active,Orphanet,ORPHA:522566,Group of disorders,[Category],Rare genetic inflammatory/autoimmune corneal disorder,,,,,,,,,,, +GARD:2218,Legacy,GARD,,,,,,,,,,,,Facial asymmetry temporal seizures,TRUE,FALSE,Retired +GARD:22180,Active,Orphanet,ORPHA:522568,Group of disorders,[Category],Rare genetic disorder of the pupil,,,,,,,,,,, +GARD:22181,Active,Orphanet,ORPHA:522570,Group of disorders,[Category],Rare genetic disorder of the posterior segment of the eye,,,,,,,,,,, +GARD:22182,Active,Orphanet,ORPHA:522572,Group of disorders,[Category],Rare genetic retinal disorder,,,,,,,,,,, +GARD:22183,Active,Orphanet,ORPHA:522574,Group of disorders,[Category],Rare genetic macular disorder,,,,,,,,,,, +GARD:22184,Active,Orphanet,ORPHA:522576,Group of disorders,[Category],Rare genetic retinal vasculopathy,,,,,,,,,,, +GARD:22185,Active,Orphanet,ORPHA:522578,Group of disorders,[Category],Rare genetic disorder involving multiple structures of the eye,,,,,,,,,,, +GARD:22186,Active,Orphanet,ORPHA:522580,Group of disorders,[Category],Secondary early-onset glaucoma of genetic origin,,,,,,,,,,, +GARD:22187,Active,Orphanet,ORPHA:522584,Group of disorders,[Category],Rare genetic choroidal disorder,,,,,,,,,,, +GARD:22188,Active,Orphanet,ORPHA:523000,Group of disorders,[Category],Pediatric-onset glaucoma,,,,,,,,,,, +GARD:22189,Active,Orphanet,ORPHA:525677,Group of disorders,[Category],Genetic congenital malformation of the eye with glaucoma as a major feature,,,,,,,,,,, +GARD:22190,Active,Orphanet,ORPHA:525731,Disorder,[Disease],Pediatric-onset Graves disease,[Pediatric-onset Basedow disease],"A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.",,,,,,,,, +GARD:22191,Active,Orphanet,ORPHA:525738,Disorder,[Disease],Prepubertal anorexia nervosa,,"A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.",,,,,,,,, +GARD:22192,Active,Orphanet,ORPHA:527276,Disorder,[Disease],Encephalopathy due to mitochondrial and peroxisomal fission defect,,"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.",,,,,,,,, +GARD:22193,Active,Orphanet,ORPHA:527468,Disorder,[Malformation syndrome],Diaphragmatic hernia-short bowel-asplenia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.",,,,,,,,, +GARD:22194,Active,Orphanet,ORPHA:528623,Disorder,[Disease],Hereditary angioedema with C1Inh deficiency,"[HAE with C1 inhibitor deficiency, HAE with C1Inh deficiency, Hereditary angioneurotic edema with C1 inhibitor deficiency, Hereditary angioneurotic edema with C1Inh deficiency]","A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.",,,,,,,,, +GARD:22195,Active,Orphanet,ORPHA:528647,Disorder,[Disease],Hereditary angioedema with normal C1Inh,"[HAE with normal C1 inhibitor, HAE with normal C1Inh, Hereditary angioedema with normal C1 inhibitor, Hereditary angioneurotic edema with normal C1 inhibitor, Hereditary angioneurotic edema with normal C1Inh]","A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.",,,,,,,,, +GARD:22196,Active,Orphanet,ORPHA:528663,Disorder,[Disease],Acquired angioedema with C1Inh deficiency,"[Acquired angioneurotic edema with C1 inhibitor deficiency, Acquired angioneurotic edema with C1Inh deficiency]","A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.",,,,,,,,, +GARD:22197,Active,Orphanet,ORPHA:529799,Disorder,[Clinical syndrome],Acute bilirubin encephalopathy,"[ABE, Acute kernicterus]","A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.",,,,,,,,, +GARD:22198,Active,Orphanet,ORPHA:529808,Disorder,[Clinical syndrome],Chronic bilirubin encephalopathy,"[BIND, Bilirubin-induced neurological dysfunction, CBE, KSD, Kernicterus spectrum disorder]","A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.",,,,,,,,, +GARD:22199,Active,Orphanet,ORPHA:529831,Disorder,[Particular clinical situation in a disease or syndrome],Letrozole toxicity,,,,,,,,,,, +GARD:2220,Legacy,GARD,,,,,,,,,,,,Facial clefting corpus callosum agenesis,TRUE,FALSE,Active +GARD:22200,Active,Orphanet,ORPHA:529852,Disorder,[Disease],Combined hepatocellular carcinoma and cholangiocarcinoma,"[Combined HCC-CC, Combined hepatocellular-cholangiocarcinoma, Hepatocholangiocarcinoma, cHCC-CC]","A rare hepatic tumor characterized by the presence of both hepatocytic and cholangiocytic differentiation within a primary liver carcinoma. The lesion commonly arises in the context of chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Typical manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. The entity has been associated with a worse prognosis than hepatocellular carcinoma after resection.",,,,,,,,, +GARD:22201,Active,Orphanet,ORPHA:529864,Disorder,[Disease],Secondary erythromelalgia,[Secondary erythermalgia],,,,,,,,,, +GARD:22202,Active,Orphanet,ORPHA:529962,Disorder,[Malformation syndrome],17q24.2 microdeletion syndrome,[Del(17)(q24)],"A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.",,,,,,,,, +GARD:22203,Active,Orphanet,ORPHA:529974,Group of disorders,[Clinical group],Immune dysregulation with inflammatory bowel disease,,,,,,,,,,, +GARD:22204,Active,Orphanet,ORPHA:529977,Disorder,[Disease],Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,,"A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia.",,,,,,,,, +GARD:22205,Active,Orphanet,ORPHA:529980,Disorder,[Disease],Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,[NFAT5 haploinsufficiency],"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.",,,,,,,,, +GARD:22206,Active,Orphanet,ORPHA:530033,Disorder,[Morphological anomaly],Dermoid or epidermoid cyst of the central nervous system,[Dermoid or epidermoid cyst of the CNS],"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.",,,,,,,,, +GARD:22207,Active,Orphanet,ORPHA:530298,Subtype of disorder,[Clinical subtype],Progressive myoclonic epilepsy with neuroserpin inclusion bodies,[Early onset familial encephalopathy with neuroserpin inclusion bodies],,,,,,,,,, +GARD:22208,Active,Orphanet,ORPHA:530303,Subtype of disorder,[Clinical subtype],Progressive dementia with neuroserpin inclusion bodies,[Late-onset familial encephalopathy with neuroserpin inclusion bodies],,,,,,,,,, +GARD:22209,Active,Orphanet,ORPHA:530313,Group of disorders,[Clinical group],PIK3CA-related overgrowth syndrome,[PROS],,,,,,,,,, +GARD:2221,Active,Orphanet,ORPHA:1969,Disorder,[Malformation syndrome],Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,"[FACES syndrome, Friedman-Goodman syndrome]","Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.",,,,,,FACES syndrome,TRUE,FALSE,Active +GARD:22210,Active,Orphanet,ORPHA:530792,Disorder,[Disease],RELA fusion-positive ependymoma,[Supratentorial C11ORF95-RELA fused ependymoma],"A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.",,,,,,,,, +GARD:22211,Active,Orphanet,ORPHA:530983,Disorder,[Disease],Lamb-Shaffer syndrome,[SOX5 haploinsufficiency syndrome],"A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.",,,,,,,,, +GARD:22212,Active,Orphanet,ORPHA:531151,Disorder,[Malformation syndrome],9q21.13 microdeletion syndrome,,"A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.",,,,,,,,, +GARD:22213,Active,Orphanet,ORPHA:536391,Group of disorders,[Clinical group],RASopathy,,,,,,,,,,, +GARD:22214,Active,Orphanet,ORPHA:536471,Disorder,[Disease],Spondylodysplastic Ehlers-Danlos syndrome,"[Spondylodysplastic EDS, spEDS]","A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.",,,,,,,,, +GARD:22215,Active,Orphanet,ORPHA:536516,Disorder,[Disease],Myopathic Ehlers-Danlos syndrome,"[EDS/myopathy overlap syndrome, Myopathic EDS]","A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.",,,,,,,,, +GARD:22216,Active,Orphanet,ORPHA:1900,Subtype of disorder,[Clinical subtype],Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,"[Cutis hyperelastica, EDS VIA, Ehlers-Danlos syndrome type 6A, Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency, Lysyl hydroxylase-deficient EDS, Ocular-scoliotic EDS, kEDS-PLOD1]","A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.",[225400],,,,,,,, +GARD:22217,Active,Orphanet,ORPHA:537072,Subtype of disorder,[Clinical subtype],PLG-related hereditary angioedema with normal C1Inh,[PLG-related HAE with normal C1 inhibitor],,,,,,,,,, +GARD:22218,Active,Orphanet,ORPHA:538101,Disorder,[Disease],Congenital axonal neuropathy with encephalopathy,,"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.",,,,,,,,, +GARD:22219,Active,Orphanet,ORPHA:538238,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic chloride channel defect,,,,,,,,,,, +GARD:2222,Active,Orphanet,ORPHA:1970,Disorder,[Malformation syndrome],Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.",[220219],,,,,"Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy",TRUE,FALSE,Retired +GARD:22220,Active,Orphanet,ORPHA:538863,Subtype of disorder,[Clinical subtype],Classic pyoderma gangrenosum,[Ulcerative pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.",,,,,,,,, +GARD:22221,Active,Orphanet,ORPHA:538866,Subtype of disorder,[Clinical subtype],Pustular pyoderma gangrenosum,,"A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.",,,,,,,,, +GARD:22222,Active,Orphanet,ORPHA:538869,Subtype of disorder,[Clinical subtype],Bullous pyoderma gangrenosum,[Phemphigoid pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.",,,,,,,,, +GARD:22223,Active,Orphanet,ORPHA:538872,Subtype of disorder,[Clinical subtype],Vegetative pyoderma gangrenosum,[Granulomatous pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.",,,,,,,,, +GARD:22224,Active,Orphanet,ORPHA:541443,Disorder,[Morphological anomaly],Anomalous aortic origin of the left coronary artery,"[AOLCA, L-ACAOS, Left coronary artery from right aortic sinus]","A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.",,,,,,,,, +GARD:22225,Active,Orphanet,ORPHA:541454,Disorder,[Morphological anomaly],Anomalous aortic origin of the right coronary artery,"[AORCA, R-ACAOS, Right coronary artery from left aortic sinus]","A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.",,,,,,,,, +GARD:22226,Active,Orphanet,ORPHA:541478,Group of disorders,[Clinical group],Anomalous aortic origin of coronary artery,[AAOCA],"A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.",,,,,,,,, +GARD:22227,Active,Orphanet,ORPHA:541507,Disorder,[Morphological anomaly],Anomalous origin of coronary artery from the pulmonary artery,[ACAPA],"A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.",,,,,,,,, +GARD:22228,Active,Orphanet,ORPHA:542323,Disorder,[Particular clinical situation in a disease or syndrome],CAR T cell therapy-associated cytokine release syndrome,"[CAR T cell therapy-associated CRS, Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome]","A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS).",,,,,,,,, +GARD:22229,Active,Orphanet,ORPHA:542568,Disorder,[Morphological anomaly],Quadricuspid aortic valve,,"A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.",,,,,,,,, +GARD:22230,Active,Orphanet,ORPHA:542822,Group of disorders,[Clinical group],Anomaly of the coronary ostia,,"A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia.",,,,,,,,, +GARD:22231,Active,Orphanet,ORPHA:543470,Disorder,[Disease],Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,,"A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.",,,,,,,,, +GARD:22232,Active,Orphanet,ORPHA:544254,Disorder,[Disease],SYNGAP1-related developmental and epileptic encephalopathy,[SYNGAP1-related DEE],"A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).",,,,,,,,, +GARD:22233,Active,Orphanet,ORPHA:544458,Group of disorders,[Clinical group],Hemolytic uremic syndrome,[HUS],,,,,,,,,, +GARD:22234,Active,Orphanet,ORPHA:544482,Disorder,[Disease],Infection-related hemolytic uremic syndrome,[Infection-related HUS],,,,,,,,,, +GARD:22235,Active,Orphanet,ORPHA:544493,Subtype of disorder,[Clinical subtype],Streptococcus pneumoniae-associated hemolytic uremic syndrome,"[S. pneumoniae-associated HUS, SP-HUS]",,,,,,,,,, +GARD:22236,Active,Orphanet,ORPHA:544578,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, refluxing and obstructed form",,,,,,,,,,, +GARD:22237,Active,Orphanet,ORPHA:544590,Group of disorders,[Category],Collagen-related glomerular basement membrane disease,,,,,,,,,,, +GARD:22238,Active,Orphanet,ORPHA:544628,Disorder,[Disease],Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,,,,,,,,,,, +GARD:22239,Active,Orphanet,ORPHA:555434,Subtype of disorder,[Clinical subtype],Fibrohistiocytic inflammatory pseudotumor of the liver,,"A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.",,,,,,,,, +GARD:22240,Active,Orphanet,ORPHA:555437,Subtype of disorder,[Clinical subtype],Lymphoplasmacytic inflammatory pseudotumor of the liver,[IgG4-related inflammatory pseudotumor of the liver],"A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.",,,,,,,,, +GARD:22241,Active,Orphanet,ORPHA:555874,Disorder,[Morphological anomaly],Congenital tricuspid valve dysplasia,,"A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur.",,,,,,,,, +GARD:22242,Active,Orphanet,ORPHA:555905,Disorder,[Disease],IgA pemphigus,,"A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.",,,,,,,,, +GARD:22243,Active,Orphanet,ORPHA:556030,Subtype of disorder,[Clinical subtype],Early-onset familial hypoaldosteronism,"[Early-onset familial hyperreninemic hypoaldosteronism, Severe aldosterone synthase deficiency]","A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.",,,,,,,,, +GARD:22244,Active,Orphanet,ORPHA:556037,Subtype of disorder,[Clinical subtype],Late-onset familial hypoaldosteronism,"[Late-onset familial hyperreninemic hypoaldosteronism, Mild aldosterone synthase deficiency]","A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.",,,,,,,,, +GARD:22245,Active,Orphanet,ORPHA:556508,Group of disorders,[Category],Rare disorder due to poisoning,,,,,,,,,,, +GARD:22246,Active,Orphanet,ORPHA:556985,Disorder,[Disease],Early-onset calcifying leukoencephalopathy-skeletal dysplasia,,"A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.",,,,,,,,, +GARD:22247,Active,Orphanet,ORPHA:557056,Disorder,[Disease],Spastic ataxia-dysarthria due to glutaminase deficiency,,"A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.",,,,,,,,, +GARD:22248,Active,Orphanet,ORPHA:557866,Group of disorders,[Category],Rare disorder with Hirschsprung disease as a major feature,,,,,,,,,,, +GARD:22249,Active,Orphanet,ORPHA:558411,Disorder,[Disease],Idiopathic gastroparesis,,"A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.",,,,,,,,, +GARD:2225,Legacy,GARD,,,,,,,,,,,,Facies unusual arthrogryposis advanced skeletal malformations,TRUE,FALSE,Retired +GARD:22250,Active,Orphanet,ORPHA:562639,Disorder,[Disease],Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,"[Overlap syndromes of autoimmune liver diseases, PBC/PSC and AIH overlap syndrome]","A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.",,,,,,,,, +GARD:22251,Active,Orphanet,ORPHA:563576,Subtype of disorder,[Clinical subtype],Autoimmune hepatitis type 1,[AIH type 1],"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases.",,,,,,,,, +GARD:22252,Active,Orphanet,ORPHA:563581,Subtype of disorder,[Clinical subtype],Autoimmune hepatitis type 2,[AIH type 2],"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antibodies to liver kidney microsome type 1 (anti-LKM1) and anti-liver cytosol type 1 (anti-LC1) antibodies. The disease typically manifests in childhood or adolescence with an acute onset, often with acute liver failure. Long-term immunosuppression is usually required. Reported concurrent autoimmune diseases are autoimmune thyroiditis, diabetes mellitus, and vitiligo.",,,,,,,,, +GARD:22253,Active,Orphanet,ORPHA:563589,Subtype of disorder,[Clinical subtype],Seronegative autoimmune hepatitis,"[Autoantibody-negative autoimmune hepatitis, Seronegative AIH]","A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.",,,,,,,,, +GARD:22254,Active,Orphanet,ORPHA:563609,Subtype of disorder,[Clinical subtype],Isolated anencephaly,,,,,,,,,,, +GARD:22255,Active,Orphanet,ORPHA:563612,Subtype of disorder,[Clinical subtype],Isolated exencephaly,,,,,,,,,,, +GARD:22256,Active,Orphanet,ORPHA:563666,Subtype of disorder,[Histopathological subtype],Serous cystadenoma of childhood,[Serous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22257,Active,Orphanet,ORPHA:563671,Subtype of disorder,[Histopathological subtype],Mucinous cystadenoma of childhood,[Mucinous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22258,Active,Orphanet,ORPHA:563676,Subtype of disorder,[Histopathological subtype],Seromucinous cystadenoma of childhood,[Seromucinous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22259,Active,Orphanet,ORPHA:563684,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Dermatobia hominis,"[Furunculoid myiasis due to Dermatobia hominis, Furunculous myiasis due to Dermatobia hominis]",,,,,,,,,, +GARD:2226,Legacy,GARD,,,,,,,,,,,,Facio digito genital syndrome recessive form,TRUE,FALSE,Active +GARD:22260,Active,Orphanet,ORPHA:563687,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Cordylobia anthropophaga,"[Furunculoid myiasis due to Cordylobia anthropophaga, Furunculous myiasis due to Cordylobia anthropophaga]",,,,,,,,,, +GARD:22261,Active,Orphanet,ORPHA:563690,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Cordylobia rodhaini,"[Furunculoid myiasis due to Cordylobia rodhaini, Furunculous myiasis due to Cordylobia rodhaini]",,,,,,,,,, +GARD:22262,Active,Orphanet,ORPHA:563708,Disorder,[Disease],Syndromic congenital sodium diarrhea,[Syndromic congenital tufting enteropathy],"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral chonal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.",,,,,,,,, +GARD:22263,Active,Orphanet,ORPHA:563951,Subtype of disorder,[Clinical subtype],Isolated congenital aglossia,,,,,,,,,,, +GARD:22264,Active,Orphanet,ORPHA:563954,Subtype of disorder,[Clinical subtype],Isolated congenital hypoglossia,,,,,,,,,,, +GARD:22265,Active,Orphanet,ORPHA:564127,Group of disorders,[Clinical group],Genetic nephrotic syndrome,[Hereditary nephrotic syndrome],,,,,,,,,, +GARD:22266,Active,Orphanet,ORPHA:564178,Disorder,[Disease],Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,,,,,,,,,,, +GARD:22267,Active,Orphanet,ORPHA:565612,Disorder,[Disease],Triglyceride deposit cardiomyovasculopathy,"[Neutral lipid storage disease with severe cardiovascular involvement, TGCV]",,,,,,,,,, +GARD:22268,Active,Orphanet,ORPHA:565641,Disorder,[Disease],Primary desmosis coli,[Aplastic desmosis coli],"A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.",,,,,,,,, +GARD:22269,Active,Orphanet,ORPHA:565782,Disorder,[Disease],Methotrexate toxicity,,"A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed.",,,,,,,,, +GARD:2227,Legacy,GARD,,,,,,,,,,,,Facio skeletal genital syndrome Rippberger type,TRUE,FALSE,Active +GARD:22270,Active,Orphanet,ORPHA:565837,Disorder,[Disease],Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,"[LGMD type R23, Laminin subunit alpha 2-related LGMD R23, Laminin subunit alpha 2-related late-onset muscular dystrophy]",,,,,,,,,, +GARD:22271,Active,Orphanet,ORPHA:565899,Disorder,[Disease],POMGNT2-related limb-girdle muscular dystrophy R24,"[LGMD type R24, Limb-girdle muscular dystrophy type R24, POMGNT2-related LGMD R24, POMGNT2-related muscular dystrophy]",,,,,,,,,, +GARD:22272,Active,Orphanet,ORPHA:565909,Disorder,[Disease],Calpain-3-related limb-girdle muscular dystrophy D4,"[LGMD type D4, LGMD1I, Limb-girdle muscular dystrophy type D4]",,,,,,,,,, +GARD:22273,Active,Orphanet,ORPHA:566067,Disorder,[Disease],CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,[CAIN],"A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.",,,,,,,,, +GARD:22274,Active,Orphanet,ORPHA:566192,Disorder,[Disease],Congenital autosomal recessive small-platelet thrombocytopenia,[CARST],"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.",,,,,,,,, +GARD:22275,Active,Orphanet,ORPHA:566231,Disorder,[Disease],Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,"[RTHa, Resistance to thyroid hormone alpha, Resistance to thyroid hormone due to a mutation in TRa]","A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.",,,,,,,,, +GARD:22276,Active,Orphanet,ORPHA:566393,Subtype of disorder,[Clinical subtype],Acute mast cell leukemia,[Acute MCL],"A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.",,,,,,,,, +GARD:22277,Active,Orphanet,ORPHA:566396,Subtype of disorder,[Clinical subtype],Chronic mast cell leukemia,[Chronic MCL],"A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.",,,,,,,,, +GARD:22278,Active,Orphanet,ORPHA:566841,Disorder,[Disease],Liver adenomatosis,[Hepatic adenomatosis],"A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.",,,,,,,,, +GARD:22279,Active,Orphanet,ORPHA:566847,Disorder,[Morphological anomaly],Aprosencephaly/atelencephaly spectrum,[AP/AT spectum],"A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.",,,,,,,,, +GARD:2228,Legacy,GARD,,,,,,,,,,,,Facio thoraco genital syndrome,TRUE,FALSE,Active +GARD:22280,Active,Orphanet,ORPHA:566852,Subtype of disorder,[Clinical subtype],Atelencephaly,[Atelencephalic microcephaly],,,,,,,,,, +GARD:22281,Active,Orphanet,ORPHA:566857,Subtype of disorder,[Clinical subtype],Aprosencephaly,,,,,,,,,,, +GARD:22282,Active,Orphanet,ORPHA:566862,Disorder,[Malformation syndrome],Left sided atrial isomerism,"[Isomerism of left atrial appendage, LAI]",,,,,,,,,, +GARD:22283,Active,Orphanet,ORPHA:566943,Disorder,[Disease],Mueller-Weiss syndrome,"[Brailsford disease, Mueller-Weiss osteonecrosis of the tarsal bone]","A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.",,,,,,,,, +GARD:22284,Active,Orphanet,ORPHA:567502,Disorder,[Disease],B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,"[BILU syndrome, Hoffman syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.",,,,,,,,, +GARD:22285,Active,Orphanet,ORPHA:567544,Disorder,[Clinical syndrome],Idiopathic non-lupus full-house nephropathy,[Idiopathic non-lupus FHN],,,,,,,,,, +GARD:22286,Active,Orphanet,ORPHA:567546,Disorder,[Clinical syndrome],Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,"[Idiopathic SSNS with secondary steroid resistance, Secondary SRNS, Secondary steroid-resistant nephrotic syndrome]","A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.",,,,,,,,, +GARD:22287,Active,Orphanet,ORPHA:567550,Subtype of disorder,[Clinical subtype],Idiopathic multidrug-resistant nephrotic syndrome,,,,,,,,,,, +GARD:22288,Active,Orphanet,ORPHA:567552,Subtype of disorder,[Clinical subtype],Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,[Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression],,,,,,,,,, +GARD:22289,Active,Orphanet,ORPHA:567554,Group of disorders,[Category],Systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:2229,Active,Orphanet,ORPHA:1972,Disorder,[Malformation syndrome],Lethal faciocardiomelic dysplasia,,An extremely rare polymalformative syndrome.,[227270],,,,,Faciocardiomelic dysplasia lethal,TRUE,FALSE,Active +GARD:22290,Active,Orphanet,ORPHA:567556,Group of disorders,[Category],Genetic systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:22291,Active,Orphanet,ORPHA:567558,Group of disorders,[Category],Non-genetic systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:22292,Active,Orphanet,ORPHA:567560,Group of disorders,[Category],Systemic vasculitis associated with glomerulopathy,,,,,,,,,,, +GARD:22293,Active,Orphanet,ORPHA:567562,Group of disorders,[Category],Disorder with multisystemic involvement and glomerulopathy,,,,,,,,,,, +GARD:22294,Active,Orphanet,ORPHA:567564,Group of disorders,[Category],Nephrotic syndrome without extrarenal manifestations,,,,,,,,,,, +GARD:22295,Active,Orphanet,ORPHA:567983,Disorder,[Particular clinical situation in a disease or syndrome],Parenteral nutrition-associated cholestasis,[PNAC],"A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.",,,,,,,,, +GARD:22296,Active,Orphanet,ORPHA:568041,Group of disorders,[Category],Primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:22297,Active,Orphanet,ORPHA:568044,Group of disorders,[Category],Primary lymphedema with systemic or visceral involvement,,,,,,,,,,, +GARD:22298,Active,Orphanet,ORPHA:568047,Group of disorders,[Category],Disorder with multisystemic involvement and primary lymphedema,,,,,,,,,,, +GARD:22299,Active,Orphanet,ORPHA:568051,Disorder,[Disease],GJC2-related late-onset primary lymphedema,,"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.",,,,,,,,, +GARD:223,Active,Orphanet,ORPHA:252175,Subtype of disorder,[Clinical subtype],Vestibular schwannoma,"[Acoustic neurilemoma, Acoustic neurinoma, Acoustic neuroma]","Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.",,,,,,Acoustic neuroma,TRUE,FALSE,Active +GARD:2230,Active,Orphanet,ORPHA:1973,Disorder,[Malformation syndrome],Faciocardiorenal syndrome,[Eastman-Bixler syndrome],"A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.",[227280],,,,,Faciocardiorenal syndrome,TRUE,FALSE,Active +GARD:22300,Active,Orphanet,ORPHA:568056,Disorder,[Disease],Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,"[Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome, WILD syndrome]","A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.",,,,,,,,, +GARD:22301,Active,Orphanet,ORPHA:568062,Disorder,[Disease],PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,"[Generalized lymphatic dysplasia of Fotiou, PIEZO1-related LRHF/GLD, PIEZO1-related generalized lymphatic dysplasia with systemic involvement, PIEZO1-related lymphatic-related hydrops fetalis]","A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.",,,,,,,,, +GARD:22302,Active,Orphanet,ORPHA:568065,Disorder,[Disease],EPHB4-related lymphatic-related hydrops fetalis,"[EPHB4-related LRHF/GLD, EPHB4-related generalized lymphatic dysplasia with atrial septal defect, EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis]","A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.",,,,,,,,, +GARD:22303,Active,Orphanet,ORPHA:569164,Disorder,[Disease],Angiomatoid fibrous histiocytoma,[AFH],"A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.",,,,,,,,, +GARD:22304,Active,Orphanet,ORPHA:569248,Disorder,[Disease],Microcystic stromal tumor,[MCST],"A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.",,,,,,,,, +GARD:22305,Active,Orphanet,ORPHA:569274,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 5,"[ISCA1 deficiency, MMDS5]",,,,,,,,,, +GARD:22306,Active,Orphanet,ORPHA:569816,Disorder,[Disease],CELSR1-related late-onset primary lymphedema,,"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.",,,,,,,,, +GARD:22307,Active,Orphanet,ORPHA:569821,Disorder,[Disease],Congenital primary lymphedema of Gordon,[VEGFC-related congenital primary lymphedema],"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.",,,,,,,,, +GARD:22308,Active,Orphanet,ORPHA:570371,Subtype of disorder,[Clinical subtype],Bartter syndrome type 5,"[Bartter syndrome type V, Transient antenatal Bartter syndrome]","A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life.",,,,,,,,, +GARD:22309,Active,Orphanet,ORPHA:570431,Subtype of disorder,[Clinical subtype],Idiopathic multicentric Castleman disease,"[HHV-8-negative multicentric Castleman disease, Human herpesvirus-8-negative multicentric Castleman disease]",,,,,,,,,, +GARD:22310,Active,Orphanet,ORPHA:570438,Subtype of disorder,[Clinical subtype],HHV-8-associated multicentric Castleman disease,[Human herpesvirus-8-associated multicentric Castleman disease],,,,,,,,,, +GARD:22311,Active,Orphanet,ORPHA:570470,Disorder,[Disease],Ricin poisoning,,"A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.",,,,,,,,, +GARD:22312,Active,Orphanet,ORPHA:572333,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-epicanthus inversus syndrome plus,"[3q23 microdeletion syndrome, BPES plus]",,,,,,,,,, +GARD:22313,Active,Orphanet,ORPHA:572428,Disorder,[Disease],Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,"[OAS1 deficiency, OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia]","A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.",,,,,,,,, +GARD:22314,Active,Orphanet,ORPHA:572761,Disorder,[Malformation syndrome],DONSON-related microcephaly-short stature-limb abnormalities spectrum,,A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.,,,,,,,,, +GARD:22315,Active,Orphanet,ORPHA:573163,Group of disorders,[Clinical group],Pheochromocytoma-paraganglioma,,A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.,,,,,,,,, +GARD:22316,Active,Orphanet,ORPHA:573253,Subtype of disorder,[Clinical subtype],Split cord malformation type II,"[SCM type 2, SCM type II, Split cord malformation type 2]",,,,,,,,,, +GARD:22317,Active,Orphanet,ORPHA:573278,Disorder,[Morphological anomaly],Split cord malformation,[SCM],,,,,,,,,, +GARD:22318,Active,Orphanet,ORPHA:574918,Disorder,[Disease],Predisposition to severe viral infection due to IRF7 deficiency,,,,,,,,,,, +GARD:22319,Active,Orphanet,ORPHA:574957,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,[Autosomal recessive MSMD due to partial JAK1 deficiency],,,,,,,,,, +GARD:22320,Active,Orphanet,ORPHA:575553,Disorder,[Disease],Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,[CARASAL],"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.",,,,,,,,, +GARD:22321,Active,Orphanet,ORPHA:576074,Disorder,[Disease],Middle East respiratory syndrome,[MERS],,,,,,,,,, +GARD:22322,Active,Orphanet,ORPHA:576227,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect without ventricular hypoplasia,"[Balanced complete atrioventricular canal, CAVC without ventricular hypoplasia, Complete AVSD without ventricular hypoplasia, Complete atrioventricular canal defect without ventricular hypoplasia, Complete atrioventricular septal defect with balanced ventricles]",,,,,,,,,, +GARD:22323,Active,Orphanet,ORPHA:576232,Subtype of disorder,[Clinical subtype],Partial atrioventricular septal defect with ventricular hypoplasia,"[PAVC with ventricular hypoplasia, Partial AVSD with ventricular hypoplasia, Partial atrioventricular canal defect with ventricular hypoplasia, Partial atrioventricular septal defect with ventricular imbalance, Unbalanced partial atrioventricular canal]",,,,,,,,,, +GARD:22324,Active,Orphanet,ORPHA:576235,Subtype of disorder,[Clinical subtype],Partial atrioventricular septal defect without ventricular hypoplasia,"[Balanced partial atrioventricular canal, PAVC without ventricular hypoplasia, Partial AVSD without ventricular hypoplasia, Partial atrioventricular canal defect without ventricular hypoplasia, Partial atrioventricular septal defect with balanced ventricles]",,,,,,,,,, +GARD:22325,Active,Orphanet,ORPHA:576242,Disorder,[Morphological anomaly],Intermediate atrioventricular septal defect,"[Intermediate AVSD, Intermediate atrioventricular canal defect, Transitional atrioventricular canal defect]",,,,,,,,,, +GARD:22326,Active,Orphanet,ORPHA:576278,Disorder,[Malformation syndrome],SATB2-associated syndrome,[SAS],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.",,,,,,,,, +GARD:22327,Active,Orphanet,ORPHA:576356,Group of disorders,[Category],Sporadic human prion disease,[Idiopathic human prion disease],,,,,,,,,, +GARD:22328,Active,Orphanet,ORPHA:576360,Group of disorders,[Category],Acquired human prion disease,[Infectious human prion disease],,,,,,,,,, +GARD:22329,Active,Orphanet,ORPHA:576379,Disorder,[Disease],Iatrogenic Creutzfeldt-Jakob disease,"[Iatrogenic MCJ, iCJD]","A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein.",,,,,,,,, +GARD:22330,Active,Orphanet,ORPHA:576742,Group of disorders,[Category],Genetic hemolytic uremic syndrome,[Genetic HUS],,,,,,,,,, +GARD:22331,Active,Orphanet,ORPHA:580572,Disorder,[Disease],Intraductal tubulopapillary neoplasm of pancreas,[ITPN],"A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.",,,,,,,,, +GARD:22332,Active,Orphanet,ORPHA:580933,Disorder,[Malformation syndrome],Lethal brain and heart developmental defects,,"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.",,,,,,,,, +GARD:22333,Active,Orphanet,ORPHA:583097,Disorder,[Disease],Congenital infiltrating lipomatosis of the face,"[CIL-F, Facial infused lipomatosis, Fibroadipose infiltrating lipomatosis]",,,,,,,,,, +GARD:22334,Active,Orphanet,ORPHA:583595,Disorder,[Disease],"Serine biosynthesis pathway deficiency, infantile/juvenile form",,,,,,,,,,, +GARD:22335,Active,Orphanet,ORPHA:583602,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to phosphoserine aminotransferase deficiency,"[Phosphoserine aminotransferase deficiency, prenatal form]",,,,,,,,,, +GARD:22336,Active,Orphanet,ORPHA:583607,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,"[3-phosphoglycerate dehydrogenase deficiency, prenatal form]",,,,,,,,,, +GARD:22337,Active,Orphanet,ORPHA:583612,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency,"[3-phosphoserine phosphatase deficiency, prenatal form]",,,,,,,,,, +GARD:22338,Active,Orphanet,ORPHA:583856,Disorder,[Disease],Isolated splenic vein thrombosis,,,,,,,,,,, +GARD:22339,Active,Orphanet,ORPHA:583861,Disorder,[Disease],Isolated mesenteric vein thrombosis,,,,,,,,,,, +GARD:22340,Active,Orphanet,ORPHA:585867,Disorder,[Disease],Acute myeloid leukemia with t(9;22)(q34.1;q11.2),"[AML with BCR-ABL1, AML with t(9;22)(q34.1;q11.2)]","A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.",,,,,,,,, +GARD:22341,Active,Orphanet,ORPHA:585877,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,,,,,,,,,,, +GARD:22342,Active,Orphanet,ORPHA:585909,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),"[B-ALL with t(9;22)(q34.1;q11.2), BCR-ABL1-like B-ALL, Philadelphia chromosome-like B-ALL]",,,,,,,,,, +GARD:22343,Active,Orphanet,ORPHA:585918,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),"[B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged, B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged]",,,,,,,,,, +GARD:22344,Active,Orphanet,ORPHA:585929,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),"[B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1, B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1]",,,,,,,,,, +GARD:22345,Active,Orphanet,ORPHA:585936,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with hyperdiploidy,,,,,,,,,,, +GARD:22346,Active,Orphanet,ORPHA:585942,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with hypodiploidy,[Hypodiploid ALL],,,,,,,,,, +GARD:22347,Active,Orphanet,ORPHA:585948,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),[B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH],,,,,,,,,, +GARD:22348,Active,Orphanet,ORPHA:585956,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),[B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1],,,,,,,,,, +GARD:22349,Active,Orphanet,ORPHA:586130,Disorder,[Disease],Sporadic fatal insomnia,,"A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.",,,,,,,,, +GARD:2235,Legacy,GARD,,,,,,,,,,,,Factor 2 deficiency,TRUE,FALSE,Retired +GARD:22350,Active,Orphanet,ORPHA:589442,Disorder,[Malformation syndrome],Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,[Liberfarb syndrome],,,,,,,,,, +GARD:22351,Active,Orphanet,ORPHA:589515,Disorder,[Disease],PUM1-associated developmental disability-ataxia-seizure syndrome,"[PADDAS syndrome, SCA47]",,,,,,,,,, +GARD:22352,Active,Orphanet,ORPHA:589522,Disorder,[Disease],Spinocerebellar ataxia type 46,[SCA46],,,,,,,,,, +GARD:22353,Active,Orphanet,ORPHA:589527,Disorder,[Disease],Spinocerebellar ataxia type 45,[SCA45],,,,,,,,,, +GARD:22354,Active,Orphanet,ORPHA:589534,Subtype of disorder,[Etiological subtype],Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),[MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1],,,,,,,,,, +GARD:22355,Active,Orphanet,ORPHA:589542,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,[Myeloid/lymphoid neoplasms with PCM1-JAK2],,,,,,,,,, +GARD:22356,Active,Orphanet,ORPHA:589547,Disorder,[Disease],"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",,,,,,,,,,, +GARD:22357,Active,Orphanet,ORPHA:589595,Subtype of disorder,[Etiological subtype],Mixed phenotype acute leukemia with t(v;11q23.3),"[MPAL with t(v;11q23.3); KMT2A rearranged, MPAL with t(v;11q23.3); MLL rearranged]",,,,,,,,,, +GARD:22358,Active,Orphanet,ORPHA:589608,Disorder,[Disease],"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",[RHOA-related mosaic ectodermal dysplasia],"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.",,,,,,,,, +GARD:22359,Active,Orphanet,ORPHA:589618,Disorder,[Disease],Dystonia 28,"[DYT28, KMT2B-related dystonia]",,,,,,,,,, +GARD:22360,Active,Orphanet,ORPHA:589746,Group of disorders,[Category],Inherited gynecological cancer-predisposing syndrome,,,,,,,,,,, +GARD:22361,Active,Orphanet,ORPHA:589821,Subtype of disorder,[Clinical subtype],Congenital-onset Steinert myotonic dystrophy,"[Congenital-onset Steinert disease, Congenital-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22362,Active,Orphanet,ORPHA:589824,Subtype of disorder,[Clinical subtype],Childhood-onset Steinert myotonic dystrophy,"[Childhood-onset Steinert disease, Childhood-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22363,Active,Orphanet,ORPHA:589827,Subtype of disorder,[Clinical subtype],Juvenile-onset Steinert myotonic dystrophy,"[Juvenile-onset Steinert disease, Juvenile-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22364,Active,Orphanet,ORPHA:589830,Subtype of disorder,[Clinical subtype],Adult-onset Steinert myotonic dystrophy,"[Adult-onset Steinert disease, Adult-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22365,Active,Orphanet,ORPHA:589833,Subtype of disorder,[Clinical subtype],Late-onset Steinert myotonic dystrophy,"[Late-onset Steinert disease, Late-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22366,Active,Orphanet,ORPHA:589856,Disorder,[Malformation syndrome],Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,[KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome],,,,,,,,,, +GARD:22367,Active,Orphanet,ORPHA:589905,Disorder,[Disease],PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,[Chung-Jansen syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.",,,,,,,,, +GARD:22368,Active,Orphanet,ORPHA:590539,Disorder,[Disease],Isolated melanotic schwannoma,[Isolated melanocytic schwannoma],A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.,,,,,,,,, +GARD:22369,Active,Orphanet,ORPHA:592564,Disorder,[Disease],GNAO1-related developmental delay-seizures-movement disorder spectrum,[GNAO1-related spectrum],,,,,,,,,, +GARD:2237,Active,Orphanet,ORPHA:326,Disorder,[Disease],Congenital factor V deficiency,"[Owren disease, Parahemophilia, Proaccelerin deficiency]",Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.,[227400],,,,,Factor V deficiency,TRUE,FALSE,Active +GARD:22370,Active,Orphanet,ORPHA:592570,Disorder,[Malformation syndrome],TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.",,,,,,,,, +GARD:22371,Active,Orphanet,ORPHA:592574,Disorder,[Malformation syndrome],Menke-Hennekam syndrome,,,,,,,,,,, +GARD:22372,Active,Orphanet,ORPHA:592850,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies,"[NMOSD with anti-AQP4 antibodies, Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies]",,,,,,,,,, +GARD:22373,Active,Orphanet,ORPHA:592856,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder with anti-MOG antibodies,"[NMOSD with anti-MOG antibodies, Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies]",,,,,,,,,, +GARD:22374,Active,Orphanet,ORPHA:592869,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies,"[NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies, Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies]",,,,,,,,,, +GARD:22375,Active,Orphanet,ORPHA:592873,Subtype of disorder,[Clinical subtype],Acute transverse myelitis with anti-MOG antibodies,[Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22376,Active,Orphanet,ORPHA:592885,Subtype of disorder,[Clinical subtype],Isolated optic neuritis without anti-MOG antibodies,[Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22377,Active,Orphanet,ORPHA:592888,Subtype of disorder,[Clinical subtype],Isolated optic neuritis with anti-MOG antibodies,[Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22378,Active,Orphanet,ORPHA:592894,Subtype of disorder,[Clinical subtype],Acute disseminated encephalomyelitis with anti-MOG antibodies,"[ADEM with anti-MOG antibodies, Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies]",,,,,,,,,, +GARD:22379,Active,Orphanet,ORPHA:592900,Subtype of disorder,[Clinical subtype],Acute disseminated encephalomyelitis without anti-MOG antibodies,[Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:2238,Active,Orphanet,ORPHA:327,Disorder,[Disease],Congenital factor VII deficiency,"[Congenital proconvertin deficiency, Hypoproconvertinemia]","A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.",[227500],,,,,Factor VII deficiency,TRUE,FALSE,Active +GARD:22380,Active,Orphanet,ORPHA:595098,Subtype of disorder,[Clinical subtype],Timothy syndrome type 1,"[LQT8 type 1, TS1]",,,,,,,,,, +GARD:22381,Active,Orphanet,ORPHA:595105,Subtype of disorder,[Clinical subtype],Timothy syndrome type 2,"[LQT8 type 2, TS2]",,,,,,,,,, +GARD:22382,Active,Orphanet,ORPHA:595109,Subtype of disorder,[Clinical subtype],Atypical Timothy syndrome,"[ATS, Atypical LQT8]",,,,,,,,,, +GARD:22383,Active,Orphanet,ORPHA:595133,Disorder,[Disease],Perivascular epithelioid cell neoplasm,"[PEComa, Perivascular epithelioid tumour]","A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.",,,,,,,,, +GARD:22384,Active,Orphanet,ORPHA:595216,Group of disorders,[Clinical group],Fibrous dysplasia/McCune-Albright syndrome,"[FD/MAS spectrum, FD/MAS syndrome, Fibrous dysplasia/McCune-Albright spectrum]",,,,,,,,,, +GARD:22385,Active,Orphanet,ORPHA:595337,Group of disorders,[Clinical group],Adrenal hypoplasia congenita,"[AHC, Congenital adrenal hypoplasia, Primary adrenal hypoplasia]",,,,,,,,,, +GARD:22386,Active,Orphanet,ORPHA:595346,Group of disorders,[Category],Epidermolysis bullosa simplex without extracutaneous involvement,[EBS without extracutaneous involvement],,,,,,,,,, +GARD:22387,Active,Orphanet,ORPHA:595351,Group of disorders,[Category],Epidermolysis bullosa simplex with extracutaneous involvement,[EBS with extracutaneous involvement],,,,,,,,,, +GARD:22388,Active,Orphanet,ORPHA:595356,Disorder,[Disease],Localized dystrophic epidermolysis bullosa,[Localized DEB],A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).,,,,,,,,, +GARD:22389,Active,Orphanet,ORPHA:596008,Subtype of disorder,[Clinical subtype],Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,,,,,,,,,,, +GARD:22390,Active,Orphanet,ORPHA:596426,Group of disorders,[Clinical group],Syndrome of reduced sensitivity to thyroid hormone,,,,,,,,,,, +GARD:22391,Active,Orphanet,ORPHA:596448,Disorder,[Disease],IgG4-related systemic disease,"[IgG4-RD, IgG4-related disease]",,,,,,,,,, +GARD:22392,Active,Orphanet,ORPHA:596759,Disorder,[Disease],Combined immunodeficiency due to RELA haploinsufficiency,[CID due to RELA haploinsufficiency],,,,,,,,,, +GARD:22393,Active,Orphanet,ORPHA:596937,Disorder,[Disease],Portosinusoidal vascular disease,[PSVD],,,,,,,,,, +GARD:22394,Active,Orphanet,ORPHA:596941,Subtype of disorder,[Histopathological subtype],Incomplete septal cirrhosis,[Incomplete septal fibrosis],"A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.",,,,,,,,, +GARD:22395,Active,Orphanet,ORPHA:597201,Disorder,[Disease],TRIM22-related inflammatory bowel disease,[TRIM22-related IBD],,,,,,,,,, +GARD:22396,Active,Orphanet,ORPHA:597623,Disorder,[Disease],IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,,,,,,,,,,, +GARD:22397,Active,Orphanet,ORPHA:597743,Disorder,[Malformation syndrome],SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,,,,,,,,,,, +GARD:22398,Active,Orphanet,ORPHA:597746,Disorder,[Malformation syndrome],Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,,,,,,,,,,, +GARD:22399,Active,Orphanet,ORPHA:597749,Group of disorders,[Clinical group],KAT6B-related multiple congenital anomalies syndrome,[KAT6B-related disorder],,,,,,,,,, +GARD:224,Active,Orphanet,ORPHA:3015,Disorder,[Malformation syndrome],Radio-renal syndrome,,"Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.",[179280],,,,,Radio renal syndrome,TRUE,FALSE,Active +GARD:22400,Active,Orphanet,ORPHA:597887,Disorder,[Disease],ALPI-related inflammatory bowel disease,,,,,,,,,,, +GARD:22401,Active,Orphanet,ORPHA:597939,Disorder,[Disease],Euthyroid dysprealbuminemic hyperthyroxinemia,[Euthyroid dystransthyretinemic hyperthyroxinemia],,,,,,,,,, +GARD:22402,Active,Orphanet,ORPHA:598164,Subtype of disorder,[Clinical subtype],FOXG1 syndrome due to intragenic alteration,,,,,,,,,,, +GARD:22403,Active,Orphanet,ORPHA:598363,Disorder,[Disease],Multisystem inflammatory syndrome in children and adults,[MIS-C/A],,,,,,,,,, +GARD:22404,Active,Orphanet,ORPHA:599373,Disorder,[Disease],STXBP1-related encephalopathy,,"A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.",,,,,,,,, +GARD:22405,Active,Orphanet,ORPHA:599376,Disorder,[Disease],Hypomyelination of early myelinating structures,[HEMS],,,,,,,,,, +GARD:22406,Active,Orphanet,ORPHA:599418,Subtype of disorder,[Clinical subtype],Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,,,,,,,,,,, +GARD:22407,Active,Orphanet,ORPHA:599485,Disorder,[Disease],Acquired hemophilia B,"[AHB, Acquired F9 deficiency, Acquired factor IX deficiency]",,,,,,,,,, +GARD:22408,Active,Orphanet,ORPHA:599490,Disorder,[Disease],Acquired factor V deficiency,,,,,,,,,,, +GARD:22409,Active,Orphanet,ORPHA:599495,Disorder,[Disease],Acquired factor VII deficiency,,,,,,,,,,, +GARD:2241,Legacy,GARD,,,,,,,,,,,,"Factor XI deficiency, congenital",TRUE,FALSE,Retired +GARD:22410,Active,Orphanet,ORPHA:599501,Disorder,[Disease],Acquired factor X deficiency,[aFX],,,,,,,,,, +GARD:22411,Active,Orphanet,ORPHA:599507,Disorder,[Disease],Acquired factor XI deficiency,[aFXI],,,,,,,,,, +GARD:22412,Active,Orphanet,ORPHA:599513,Disorder,[Disease],Acquired factor XIII deficiency,[aFXIII],,,,,,,,,, +GARD:22413,Active,Orphanet,ORPHA:599519,Disorder,[Disease],Factor V short isoforms-related bleeding disorder,[FV short isoforms-related bleeding disorder],,,,,,,,,, +GARD:22414,Active,Orphanet,ORPHA:599579,Subtype of disorder,[Etiological subtype],Factor V Amsterdam bleeding disorder,,,,,,,,,,, +GARD:22415,Active,Orphanet,ORPHA:600194,Subtype of disorder,[Etiological subtype],Factor V Atlanta bleeding disorder,,,,,,,,,,, +GARD:22416,Active,Orphanet,ORPHA:600663,Disorder,[Malformation syndrome],NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.",,,,,,,,, +GARD:22417,Active,Orphanet,ORPHA:600668,Disorder,[Disease],CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,,,,,,,,,,, +GARD:22418,Active,Orphanet,ORPHA:600691,Disorder,[Disease],Combined deficiency of factor VII and factor X,,,,,,,,,,, +GARD:22419,Active,Orphanet,ORPHA:600832,Group of disorders,[Clinical group],Legionellosis,[Legionella infection],,,,,,,,,, +GARD:22420,Active,Orphanet,ORPHA:600952,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with perineal fistula,"[Non-syndromic ARM with cutaneous fistula, Non-syndromic ARM with perineal fistula, Non-syndromic anorectal malformation with cutaneous fistula]",,,,,,,,,, +GARD:22421,Active,Orphanet,ORPHA:600961,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectourethral fistula,[Non-syndromic ARM with rectourethral fistula],,,,,,,,,, +GARD:22422,Active,Orphanet,ORPHA:600966,Subtype of disorder,[Clinical subtype],"Non-syndromic anorectal malformation with rectourethral fistula, bulbar type","[Non-syndromic ARM with rectobulbar fistula, Non-syndromic ARM with rectourethral fistula, bulbar type, Non-syndromic anorectal malformation with rectobulbar fistula]",,,,,,,,,, +GARD:22423,Active,Orphanet,ORPHA:600975,Subtype of disorder,[Clinical subtype],"Non-syndromic anorectal malformation with rectourethral fistula, prostatic type","[Non-syndromic ARM with rectoprostatic fistula, Non-syndromic ARM with rectourethral fistula, prostatic type, Non-syndromic anorectal malformation with rectoprostatic fistula]",,,,,,,,,, +GARD:22424,Active,Orphanet,ORPHA:600984,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectovesical fistula,"[Non-syndromic ARM with bladder neck fistula, Non-syndromic ARM with rectovesical fistula, Non-syndromic anorectal malformation with bladder neck fistula]",,,,,,,,,, +GARD:22425,Active,Orphanet,ORPHA:600993,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with vestibular fistula,[Non-syndromic ARM with vestibular fistula],,,,,,,,,, +GARD:22426,Active,Orphanet,ORPHA:600998,Disorder,[Morphological anomaly],Non-syndromic cloacal malformation,,,,,,,,,,, +GARD:22427,Active,Orphanet,ORPHA:601002,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation without fistula,"[Non-syndromic ARM without fistula, Non-syndromic anorectal malformation with no fistula]",,,,,,,,,, +GARD:22428,Active,Orphanet,ORPHA:601008,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with anal stenosis,[Non-syndromic ARM with anal stenosis],,,,,,,,,, +GARD:22429,Active,Orphanet,ORPHA:601013,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with pouch colon,[Non-syndromic ARM with pouch colon],,,,,,,,,, +GARD:22430,Active,Orphanet,ORPHA:601018,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectal atresia,[Non-syndromic ARM with rectal atresia],,,,,,,,,, +GARD:22431,Active,Orphanet,ORPHA:601023,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectal stenosis,[Non-syndromic ARM with rectal stenosis],,,,,,,,,, +GARD:22432,Active,Orphanet,ORPHA:601028,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectovaginal fistula,[Non-syndromic ARM with rectovaginal fistula],,,,,,,,,, +GARD:22433,Active,Orphanet,ORPHA:601033,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with H-type fistula,[Non-syndromic ARM with H-type fistula],,,,,,,,,, +GARD:22434,Active,Orphanet,ORPHA:603515,Disorder,[Morphological anomaly],Isolated female hypospadias,,,,,,,,,,, +GARD:22435,Active,Orphanet,ORPHA:603684,Disorder,[Malformation syndrome],KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome,[PERCHING syndrome],,,,,,,,,, +GARD:22436,Active,Orphanet,ORPHA:603689,Disorder,[Malformation syndrome],KLHL7-related Bohring-Opitz-like syndrome,[KLHL7-related BOS-like syndrome],,,,,,,,,, +GARD:22437,Active,Orphanet,ORPHA:603694,Disorder,[Disease],KLHL7-related cold-induced sweating-like syndrome,[KLHL7-related Crisponi-like syndrome],,,,,,,,,, +GARD:22438,Active,Orphanet,ORPHA:603699,Group of disorders,[Clinical group],KLHL7-related disorder,,,,,,,,,,, +GARD:22439,Active,Orphanet,ORPHA:604680,Disorder,[Disease],Symptomatic form of X-linked centronuclear myopathy in female carriers,"[Symptomatic form of X-linked myotubular myopathy in female carriers, Symptomatic form of XLCNM in female carriers, Symptomatic form of XLMTM in female carriers]",,,,,,,,,, +GARD:22440,Active,Orphanet,ORPHA:611314,Group of disorders,[Category],Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:22441,Active,Orphanet,ORPHA:611327,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability,[Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism],,,,,,,,,, +GARD:22442,Active,Orphanet,ORPHA:615943,Disorder,[Disease],Granuloma faciale,"[Facial granuloma of Lever, Granuloma of Lever]",,,,,,,,,, +GARD:22443,Active,Orphanet,ORPHA:615970,Disorder,[Disease],Chronic intervillositis of unknown etiology,[CIUE],,,,,,,,,, +GARD:22444,Active,Orphanet,ORPHA:616874,Disorder,[Disease],Rare disorder without a determined diagnosis after full investigation,[Fully investigated rare disorder without a determined diagnosis],"A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts.",,,,,,,,, +GARD:22445,Active,Orphanet,ORPHA:617294,Disorder,[Disease],Twin anemia-polycythemia sequence,[TAPS],,,,,,,,,, +GARD:22446,Active,Orphanet,ORPHA:617297,Disorder,[Disease],Twin-reversed arterial perfusion sequence,[TRAP],,,,,,,,,, +GARD:22447,Active,Orphanet,ORPHA:617301,Disorder,[Disease],Selective intrauterine growth restriction,,,,,,,,,,, +GARD:22448,Active,Orphanet,ORPHA:617304,Disorder,[Disease],Amniotic fluid embolism,,,,,,,,,,, +GARD:22449,Active,Orphanet,ORPHA:617307,Group of disorders,[Category],Rare disorder related to monochorionic twin pregnancy,,,,,,,,,,, +GARD:2245,Active,Orphanet,ORPHA:3303,Disorder,[Malformation syndrome],Tetralogy of Fallot,,"Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.","[187500, 618780]",,,,,Tetralogy of Fallot,TRUE,FALSE,Active +GARD:22450,Active,Orphanet,ORPHA:617310,Group of disorders,[Category],Rare disorder due to unbalanced inter-twin blood transfusion,,,,,,,,,,, +GARD:22451,Active,Orphanet,ORPHA:617313,Group of disorders,[Category],Rare disorder due to inadequate sharing of the placenta,,,,,,,,,,, +GARD:22452,Active,Orphanet,ORPHA:617408,Disorder,[Disease],Classic eosinophilic pustular folliculitis,"[Classic EPF, Ofuji disease]",,,,,,,,,, +GARD:22453,Active,Orphanet,ORPHA:617449,Disorder,[Disease],Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome,,,,,,,,,,, +GARD:22454,Active,Orphanet,ORPHA:617919,Disorder,[Disease],F12-associated cold autoinflammatory syndrome,,,,,,,,,,, +GARD:22455,Active,Orphanet,ORPHA:617930,Subtype of disorder,[Clinical subtype],Hemophilia B Leyden,"[F9 deficiency, Leyden type, Factor IX deficiency, Leyden type]",,,,,,,,,, +GARD:22456,Active,Orphanet,ORPHA:618891,Disorder,[Disease],Chronic neurovisceral acid sphingomyelinase deficiency,"[Chronic neurovisceral ASMD, NPD-A/B, Niemann-Pick disease type A/B]",,,,,,,,,, +GARD:22457,Active,Orphanet,ORPHA:618899,Group of disorders,[Clinical group],Acid sphingomyelinase deficiency,[ASMD],,,,,,,,,, +GARD:22458,Active,Orphanet,ORPHA:619233,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,[Dias-Logan syndrome],,,,,,,,,, +GARD:22459,Active,Orphanet,ORPHA:619249,Group of disorders,[Category],Rare hereditary connective tissue disease,,,,,,,,,,, +GARD:22460,Active,Orphanet,ORPHA:619284,Group of disorders,[Clinical group],Narcolepsy,[Narcolepsy with or without cataplexy],,,,,,,,,, +GARD:22461,Active,Orphanet,ORPHA:619340,Group of disorders,[Category],Inherited hematologic cancer-predisposing syndrome,,,,,,,,,,, +GARD:22462,Active,Orphanet,ORPHA:619363,Disorder,[Disease],Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18,"[Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome, Neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18]",,,,,,,,,, +GARD:22463,Active,Orphanet,ORPHA:619367,Disorder,[Disease],SAMD9L-associated autoinflammatory syndrome,[SAMD9L-SAAD],,,,,,,,,, +GARD:22464,Active,Orphanet,ORPHA:619941,Disorder,[Disease],Immune deficiency due to impaired neutrophil phagocytosis and migration,"[Immunodeficiency due to impaired neutrophil phagocytosis and migration, MKL1-related neutrophil motility defect]",,,,,,,,,, +GARD:22465,Active,Orphanet,ORPHA:619948,Disorder,[Disease],Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,[SOCS1-related autoinflammatory syndrome],,,,,,,,,, +GARD:22466,Active,Orphanet,ORPHA:619953,Disorder,[Disease],Familial hyperinflammatory lymphoproliferative immunodeficiency,"[HEM1 deficiency syndrome, NCKAP1L-associated hyperinflammatory disorder]",,,,,,,,,, +GARD:22467,Active,Orphanet,ORPHA:619972,Disorder,[Disease],CADINS disease,[CARD11-associated atopy with dominant interference of NF-kB signaling syndrome],,,,,,,,,, +GARD:22468,Active,Orphanet,ORPHA:619979,Disorder,[Disease],Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,,,,,,,,,,, +GARD:22469,Active,Orphanet,ORPHA:620096,Group of disorders,[Clinical group],Non-syndromic unisutural craniosynostosis,"[Isolated unisutural craniosynostosis, Non-syndromic single suture synostosis]",,,,,,,,,, +GARD:22470,Active,Orphanet,ORPHA:620102,Disorder,[Morphological anomaly],Non-syndromic unicoronal craniosynostosis,"[Isolated frontal plagiocephaly, Isolated unicoronal craniosynostosis, Non-syndromic anterior synostotic plagiocephaly, Non-syndromic frontoparietal craniosynostosis, Non-syndromic hemicoronal craniosynostosis, Non-syndromic unilateral coronal synostosis]",,,,,,,,,, +GARD:22471,Active,Orphanet,ORPHA:620113,Disorder,[Morphological anomaly],Non-syndromic unilambdoid craniosynostosis,"[Isolated occipital plagiocephaly, Isolated unilamboid craniosynostosis, Non-syndromic posterior synostotic plagiocephaly, Non-syndromic unilateral lambdoid synostosis]",,,,,,,,,, +GARD:22472,Active,Orphanet,ORPHA:620139,Disorder,[Morphological anomaly],Non-syndromic unifrontosphenoidal craniosynostosis,"[Isolated unifrontosphenoidal craniosynostosis, Isolated unilateral sphenofrontal suture synostosis, Non-syndromic unilateral frontosphenoidal suture synostosis]",,,,,,,,,, +GARD:22473,Active,Orphanet,ORPHA:620146,Disorder,[Morphological anomaly],Non-syndromic unisquamosal craniosynostosis,"[Isolated unisquamosal craniosynostosis, Non-syndromic unilateral squamosal suture synostosis]",,,,,,,,,, +GARD:22474,Active,Orphanet,ORPHA:620152,Group of disorders,[Clinical group],Non-syndromic multisutural craniosynostosis,"[Isolated multisutural craniosynostosis, Non-syndromic multiple suture synostosis]",,,,,,,,,, +GARD:22475,Active,Orphanet,ORPHA:620158,Disorder,[Morphological anomaly],Non-syndromic non-specific multisutural craniosynostosis,"[Isolated non-specific multisutural craniosynostosis, Non-syndromic non-specific multiple suture synostosis]",,,,,,,,,, +GARD:22476,Active,Orphanet,ORPHA:620178,Disorder,[Morphological anomaly],Non-syndromic bilambdoid craniosynostosis,"[Isolated bilambdoid craniosynostosis, Isolated pachycephaly, Non-syndromic bilateral lambdoid synostosis]",,,,,,,,,, +GARD:22477,Active,Orphanet,ORPHA:620186,Disorder,[Morphological anomaly],Non-syndromic unicoronal and sagittal craniosynostosis,"[Isolated unicoronal and sagittal craniosynostosis, Non-syndromic unilateral coronal and sagittal suture synostosis]",,,,,,,,,, +GARD:22478,Active,Orphanet,ORPHA:620192,Disorder,[Morphological anomaly],Non-syndromic metopic and sagittal craniosynostosis,"[Isolated metopic and sagittal craniosynostosis, Non-syndromic metopic and sagittal suture synostosis]",,,,,,,,,, +GARD:22479,Active,Orphanet,ORPHA:620198,Disorder,[Morphological anomaly],Non-syndromic bicoronal and metopic craniosynostosis,"[Isolated bicoronal and metopic craniosynostosis, Non-syndromic bilateral coronal and metopic suture synostosis]",,,,,,,,,, +GARD:22480,Active,Orphanet,ORPHA:620205,Disorder,[Morphological anomaly],Non-syndromic bicoronal and sagittal craniosynostosis,"[Isolated bicoronal and sagittal craniosynostosis, Non-syndromic sagittal and bilateral coronal synostosis]",,,,,,,,,, +GARD:22481,Active,Orphanet,ORPHA:620212,Disorder,[Morphological anomaly],Non-syndromic pansynostosis,"[Isolated pansynostosis, Non-syndromic synostosis of all cranial vault sutures]",,,,,,,,,, +GARD:22482,Active,Orphanet,ORPHA:620217,Subtype of disorder,[Clinical subtype],Bartter syndrome type 1,[Bartter syndrome type I],,,,,,,,,, +GARD:22483,Active,Orphanet,ORPHA:620220,Subtype of disorder,[Clinical subtype],Bartter syndrome type 2,[Bartter syndrome type II],,,,,,,,,, +GARD:22484,Active,Orphanet,ORPHA:620363,Disorder,[Disease],Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,,,,,,,,,,, +GARD:22485,Active,Orphanet,ORPHA:620368,Disorder,[Disease],EGF-related primary hypomagnesemia with intellectual disability,,,,,,,,,,, +GARD:22486,Active,Orphanet,ORPHA:620371,Disorder,[Disease],Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,[Gitelman-like kidney tubulopathy due to mtDNA mutation],,,,,,,,,, +GARD:22487,Active,Orphanet,ORPHA:621758,Disorder,[Disease],Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,"[FINCA, Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome]",,,,,,,,,, +GARD:22488,Active,Orphanet,ORPHA:622720,Group of disorders,[Category],Genetic autoinflammatory syndrome with skin involvement,,,,,,,,,,, +GARD:22489,Active,Orphanet,ORPHA:622914,Group of disorders,[Category],Rare genetic nevus,,,,,,,,,,, +GARD:2249,Active,Orphanet,ORPHA:91387,Disorder,[Disease],Familial thoracic aortic aneurysm and aortic dissection,"[Familial TAAD, Familial non-syndromic thoracic aortic aneurysm and aortic dissection]","Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.","[614816, 132900, 615582, 607086, 617168, 610168, 609192, 615436, 607087, 611788, 613780, 616166]",,,,,Familial thoracic aortic aneurysm and aortic dissection,TRUE,FALSE,Active +GARD:22490,Active,Orphanet,ORPHA:622925,Disorder,[Malformation syndrome],X-linked severe syndromic thoracic aortic aneurysm and dissection,"[Meester-Loeys syndrome, X-linked severe syndromic TAAD]",,,,,,,,,, +GARD:22491,Active,Orphanet,ORPHA:622934,Disorder,[Malformation syndrome],SBDS-related severe neonatal spondylometaphyseal dysplasia,"[SBDS-related severe neonatal SMD, Spondylometaphyseal dysplasia, Sedaghatian-like type]",,,,,,,,,, +GARD:22492,Active,Orphanet,ORPHA:623615,Disorder,[Disease],Autoimmune limbic encephalitis,[ALE],"A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.",,,,,,,,, +GARD:22493,Active,Orphanet,ORPHA:623626,Disorder,[Disease],Paraneoplastic cerebellar degeneration,"[PCD, Paraneoplastic cerebellar ataxia, Rapidely progressive cerebellar syndrome, Subacute cerebellar degeneration]",,,,,,,,,, +GARD:22494,Active,Orphanet,ORPHA:623638,Group of disorders,[Clinical group],Immune-mediated cerebellar ataxia,"[Autoimmune cerebellitis, IMCA]",,,,,,,,,, +GARD:22495,Active,Orphanet,ORPHA:623695,Disorder,[Malformation syndrome],MIR140-related spondyloepiphyseal dysplasia,"[MIR140-related SED, Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses]",,,,,,,,,, +GARD:22496,Active,Orphanet,ORPHA:623789,Disorder,[Disease],Body integrity dysphoria,"[BID, BIID, Body integrity identity disorder]",,,,,,,,,, +GARD:22497,Active,Orphanet,ORPHA:624166,Disorder,[Disease],Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,[Non-specific supratentorial AE with characteristic antibodies],,,,,,,,,, +GARD:22498,Active,Orphanet,ORPHA:624178,Disorder,[Disease],Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,[Non-specific supratentorial AE without characteristic antibodies],,,,,,,,,, +GARD:22499,Active,Orphanet,ORPHA:624190,Disorder,[Disease],Paraneoplastic isolated brainstem encephalitis,"[Paraneoplastic isolated rhombencephalitis, Paraneoplastic isolated rhomboencephalitis]",,,,,,,,,, +GARD:225,Active,Orphanet,ORPHA:93321,Disorder,[Morphological anomaly],Radial hemimelia,"[Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitidinal meromelia, Radial ray agenesis]",A rare congenital limb malformation characterized by partial or total absence of the radius.,,,,,,Radial ray agenesis,TRUE,FALSE,Active +GARD:2250,Active,Orphanet+OMIM,OMIM:600348,Subtype of disorder,[Morphological anomaly subtype],Band heterotopia,,,[600348],[99796],[Subcortical band heterotopia],[1904],,Familial band heterotopia,TRUE,FALSE,Active +GARD:22500,Active,Orphanet,ORPHA:624199,Disorder,[Disease],Non-specific autoimmune brainstem encephalitis with characteristic antibodies,"[Non-specific autoimmune rhombencephalitis with characteristic antibodies, Non-specific autoimmune rhomboencephalitis with characteristic antibodies]",,,,,,,,,, +GARD:22501,Active,Orphanet,ORPHA:624216,Disorder,[Disease],Non-specific autoimmune brainstem encephalitis without characteristic antibodies,"[Non-specific autoimmune rhombencephalitis without characteristic antibodies, Non-specific autoimmune rhomboencephalitis without characteristic antibodies]",,,,,,,,,, +GARD:22502,Active,Orphanet,ORPHA:624244,Disorder,[Disease],Postinfectious cerebellitis,"[ACA, APCA, Acute cerebellar ataxia, Acute postinfectious cerebellar ataxia, PIC, Para-infectious cerebellitis]",,,,,,,,,, +GARD:22503,Active,Orphanet,ORPHA:624259,Disorder,[Disease],Non-specific autoimmune cerebellar ataxia with characteristic antibodies,[Non-specific autoimmune CA with characteristic antibodies],,,,,,,,,, +GARD:22504,Active,Orphanet,ORPHA:624268,Disorder,[Disease],Non-specific autoimmune cerebellar ataxia without characteristic antibodies,"[Non-specific autoimmune CA without characteristic antibodies, PACA, Primary Autoimmune Cerebellar Ataxia]",,,,,,,,,, +GARD:22505,Active,Orphanet,ORPHA:52662,Group of disorders,[Category],Rare teratologic disease,[Acquired embryofetopathy],,,,,,,,,, +GARD:22506,Active,Orphanet,ORPHA:57146,Group of disorders,[Category],Rare hepatic disease,,,,,,,,,,, +GARD:22507,Active,Orphanet,ORPHA:68329,Group of disorders,[Category],Rare maxillo-facial surgical disease,[Rare maxillofacial anomaly],,,,,,,,,, +GARD:22508,Active,Orphanet,ORPHA:68367,Group of disorders,[Category],Rare inborn errors of metabolism,[Rare metabolic disease],,,,,,,,,, +GARD:22509,Active,Orphanet,ORPHA:68416,Group of disorders,[Category],Rare infectious disease,,,,,,,,,,, +GARD:2251,Legacy,GARD,,,,,,,,,,,,Familial hypertension,FALSE,FALSE,Active +GARD:22510,Active,Orphanet,ORPHA:89826,Group of disorders,[Category],Rare skin disease,,,,,,,,,,, +GARD:22511,Active,Orphanet,ORPHA:93419,Group of disorders,[Category],Rare bone disease,,,,,,,,,,, +GARD:22512,Active,Orphanet,ORPHA:93626,Group of disorders,[Category],Rare renal disease,,,,,,,,,,, +GARD:22513,Active,Orphanet,ORPHA:93890,Group of disorders,[Category],Rare developmental defect during embryogenesis,[Malformation syndrome],,,,,,,,,, +GARD:22514,Active,Orphanet,ORPHA:96344,Group of disorders,[Category],Rare gynecologic or obstetric disease,,,,,,,,,,, +GARD:22515,Active,Orphanet,ORPHA:97929,Group of disorders,[Category],Rare cardiac disease,,,,,,,,,,, +GARD:22516,Active,Orphanet,ORPHA:97935,Group of disorders,[Category],Rare gastroenterologic disease,,,,,,,,,,, +GARD:22517,Active,Orphanet,ORPHA:97955,Group of disorders,[Category],Rare respiratory disease,,,,,,,,,,, +GARD:22518,Active,Orphanet,ORPHA:97962,Group of disorders,[Category],Rare surgical thoracic disease,,,,,,,,,,, +GARD:22519,Active,Orphanet,ORPHA:97965,Group of disorders,[Category],Rare surgical cardiac disease,,,,,,,,,,, +GARD:2252,Active,Orphanet,ORPHA:467,Group of disorders,[Category],Non-acquired combined pituitary hormone deficiency,"[Congenital combined pituitary hormone deficiency, Congenital hypopituitarism]","Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.",,,,,,Congenital hypopituitarism,TRUE,FALSE,Active +GARD:22520,Active,Orphanet,ORPHA:97966,Group of disorders,[Category],Rare ophthalmic disorder,,,,,,,,,,, +GARD:22521,Active,Orphanet,ORPHA:97978,Group of disorders,[Category],Rare endocrine disease,,,,,,,,,,, +GARD:22522,Active,Orphanet,ORPHA:97992,Group of disorders,[Category],Rare hematologic disease,,,,,,,,,,, +GARD:22523,Active,Orphanet,ORPHA:98004,Group of disorders,[Category],Rare immune disease,,,,,,,,,,, +GARD:22524,Active,Orphanet,ORPHA:98006,Group of disorders,[Category],Rare neurologic disease,[Rare nervous system disease],,,,,,,,,, +GARD:22525,Active,Orphanet,ORPHA:98023,Group of disorders,[Category],Rare systemic or rheumatologic disease,,,,,,,,,,, +GARD:22526,Active,Orphanet,ORPHA:98026,Group of disorders,[Category],Rare odontologic disease,,,,,,,,,,, +GARD:22527,Active,Orphanet,ORPHA:98028,Group of disorders,[Category],Rare circulatory system disease,,,,,,,,,,, +GARD:22528,Active,Orphanet,ORPHA:98036,Group of disorders,[Category],Rare otorhinolaryngologic disease,,,,,,,,,,, +GARD:22529,Active,Orphanet,ORPHA:98047,Group of disorders,[Category],Rare infertility,,,,,,,,,,, +GARD:22530,Active,Orphanet,ORPHA:98050,Group of disorders,[Category],Rare allergic disease,[Rare allergy],,,,,,,,,, +GARD:22531,Active,Orphanet,ORPHA:98053,Group of disorders,[Category],Rare genetic disease,,,,,,,,,,, +GARD:22532,Active,Orphanet,ORPHA:101433,Group of disorders,[Category],Rare urogenital disease,,,,,,,,,,, +GARD:22533,Active,Orphanet,ORPHA:108999,Group of disorders,[Category],Rare disorder due to toxic effects,,,,,,,,,,, +GARD:22534,Active,Orphanet,ORPHA:165711,Group of disorders,[Category],Rare abdominal surgical disease,,,,,,,,,,, +GARD:22535,Active,Orphanet,ORPHA:250908,Group of disorders,[Category],Rare neoplastic disease,[Rare tumoral disease],,,,,,,,,, +GARD:22536,Active,Orphanet,ORPHA:565779,Group of disorders,[Category],Rare disorder potentially indicated for transplant or complication after transplantation,,,,,,,,,,, +GARD:22537,Active,Orphanet+OMIM,OMIM:249500,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 1","[Mental retardation, autosomal recessive 1]",,[249500],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22538,Active,Orphanet+OMIM,OMIM:607417,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 2","[mental retardation, autosomal recessive 2a, Mental retardation, autosomal recessive 2]",,[607417],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22539,Active,Orphanet+OMIM,OMIM:608443,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 3","[Mental retardation, autosomal recessive 3]",,[608443],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2254,Active,Orphanet,ORPHA:922,Disorder,[Disease],Familial nasal acilia,,"Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.",,,,,,Familial nasal acilia,TRUE,FALSE,Active +GARD:22540,Active,Orphanet+OMIM,OMIM:611090,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 12",,,[611090],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22541,Active,Orphanet+OMIM,OMIM:611091,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 5","[Mental retardation, autosomal recessive 5]",,[611091],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22542,Active,Orphanet+OMIM,OMIM:611092,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 6","[Mental retardation, autosomal recessive 6]",,[611092],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22543,Active,Orphanet+OMIM,OMIM:611093,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 7","[mental retardation, autosomal recessive 22, Intellectual developmental disorder 22, mental retardation, autosomal recessive 7]",,[611093],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22544,Active,Orphanet+OMIM,OMIM:611095,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 9",,,[611095],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22545,Active,Orphanet+OMIM,OMIM:611096,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 10",,,[611096],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22546,Active,Orphanet+OMIM,OMIM:611097,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 11",,,[611097],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22547,Active,Orphanet+OMIM,OMIM:611107,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 4",,,[611107],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22548,Active,Orphanet+OMIM,OMIM:613192,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 13","[Mental retardation, autosomal recessive 13]",,[613192],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22549,Active,Orphanet+OMIM,OMIM:614020,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 14","[Mental retardation, autosomal recessive 14]",,[614020],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22550,Active,Orphanet+OMIM,OMIM:614202,Subtype of disorder,[Etiological subtype],Rafiq syndrome,"[Cdg2u, mental retardation, autosomal recessive 15, formerly]","Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by {1:Balasubramanian et al., 2019}).",[614202],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22551,Active,Orphanet+OMIM,OMIM:614208,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 16",,,[614208],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22552,Active,Orphanet+OMIM,OMIM:614249,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy","[Intellectual developmental disorder, autosomal recessive 18, mental retardation, autosomal recessive 18]","MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by {6:Trehan et al., 2015}).",[614249],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22553,Active,Orphanet+OMIM,OMIM:614329,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 31",,,[614329],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22554,Active,Orphanet+OMIM,OMIM:614333,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 29",,,[614333],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22555,Active,Orphanet+OMIM,OMIM:614340,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 27","[Mental retardation, autosomal recessive 27]",,[614340],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22556,Active,Orphanet+OMIM,OMIM:614341,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 33",,,[614341],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22557,Active,Orphanet+OMIM,OMIM:614342,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 30",,,[614342],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22558,Active,Orphanet+OMIM,OMIM:614343,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 19",,,[614343],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22559,Active,Orphanet+OMIM,OMIM:614344,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 23",,,[614344],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2256,Active,Orphanet,ORPHA:93337,Disorder,[Morphological anomaly],Polydactyly of an index finger,"[PPD3, Preaxial polydactyly type 3]","Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.",[174600],,,,,Preaxial polydactyly type 3,TRUE,FALSE,Active +GARD:22560,Active,Orphanet+OMIM,OMIM:614345,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 24",,,[614345],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22561,Active,Orphanet+OMIM,OMIM:614346,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 25",,,[614346],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22562,Active,Orphanet+OMIM,OMIM:614347,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 28",,,[614347],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22563,Active,Orphanet+OMIM,OMIM:614499,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly","[Mental retardation, autosomal recessive 34, with variant lissencephaly]","MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by {1:Di Donato et al., 2016}).",[614499],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22564,Active,Orphanet+OMIM,OMIM:615802,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities","[mental retardation, autosomal recessive 42, Glycosylphosphatidylinositol biosynthesis defect 9]","Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by {1:Bosch et al., 2015}). {4:Novarino et al. (2014)} labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[615802],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22565,Active,Orphanet+OMIM,OMIM:615817,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 43","[Mental retardation, autosomal recessive 43]","Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. Some patients may have significant motor delays (summary by {1:Gangfuss et al., 2022}).",[615817],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22566,Active,Orphanet+OMIM,OMIM:615942,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 44","[Mental retardation, autosomal recessive 44]",,[615942],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22567,Active,Orphanet+OMIM,OMIM:615979,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 45",,,[615979],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22568,Active,Orphanet+OMIM,OMIM:616116,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 46","[Mental retardation, autosomal recessive 46]",,[616116],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22569,Active,Orphanet+OMIM,OMIM:616193,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 47","[Mental retardation, autosomal recessive 47]",,[616193],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2257,Active,Orphanet,ORPHA:101046,Disorder,[Disease],Autosomal dominant epilepsy with auditory features,"[ADEAF, ADLTE, ADPEAF, Autosomal dominant lateral temporal lobe epilepsy, Partial epilepsy with auditory aura, Partial epilepsy with auditory features]","A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.","[600512, 616461, 616436]",,,,,Autosomal dominant partial epilepsy with auditory features,TRUE,FALSE,Active +GARD:22570,Active,Orphanet+OMIM,OMIM:616460,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 50","[Mental retardation, autosomal recessive 50]",,[616460],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22571,Active,Orphanet+OMIM,OMIM:616739,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 51","[Mental retardation, autosomal recessive 51]",,[616739],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22572,Active,Orphanet+OMIM,OMIM:616887,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 52","[Mental retardation, autosomal recessive 52]",,[616887],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22573,Active,Orphanet+OMIM,OMIM:617028,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 54","[Mental retardation, autosomal recessive 54]",,[617028],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22574,Active,Orphanet+OMIM,OMIM:617125,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 56","[Mental retardation, autosomal recessive 56]",,[617125],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22575,Active,Orphanet+OMIM,OMIM:617188,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 57",,,[617188],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22576,Active,Orphanet+OMIM,OMIM:617709,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with microcephaly, ataxia, and seizures",,"Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) is an autosomal recessive disorder characterized by developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations (summary by {2:Ravel et al., 2021}).",[617709],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22577,Active,Orphanet+OMIM,OMIM:617816,Subtype of disorder,[Etiological subtype],Glycosylphosphatidylinositol biosynthesis defect 16,"[Mental retardation, autosomal recessive 62]",,[617816],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22578,Active,Orphanet+OMIM,OMIM:618109,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 65","[Mental retardation, autosomal recessive 65]",,[618109],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22579,Active,Orphanet+OMIM,OMIM:618221,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 66","[Mental retardation, autosomal recessive 66]","MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span ({2:Philips et al., 2017}).",[618221],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2258,Active,Orphanet,ORPHA:99810,Subtype of disorder,[Etiological subtype],Familial porencephaly,,,"[175780, 614483]",,,,,Familial porencephaly,TRUE,FALSE,Active +GARD:22580,Active,Orphanet+OMIM,OMIM:618402,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 70","[Mental retardation, autosomal recessive 70]","MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients ({1:Maddirevula et al., 2018}; {2:Perez et al., 2018}).",[618402],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22581,Active,Orphanet+OMIM,OMIM:618687,Subtype of disorder,[Etiological subtype],Intellectual developmental disorder with short stature and behavioral abnormalities,,,[618687],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22582,Active,Orphanet+OMIM,OMIM:600060,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 2",[Neurosensory nonsyndromic recessive deafness 2],,[600060],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22583,Active,Orphanet+OMIM,OMIM:600316,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 3",[Neurosensory nonsyndromic recessive deafness 3],,[600316],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22584,Active,Orphanet+OMIM,OMIM:600791,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct","[Neurosensory nonsyndromic recessive deafness 4, dilated vestibular aqueduct]","DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by {8:Campbell et al., 2001} and {21:Pryor et al., 2005}). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients ({25:Valvassori, 1983}; {15:Jackler and de la Cruz, 1989}; {16:Levenson et al., 1989}; {4:Arcand et al., 1991}; {7:Belenky et al., 1993}; {18:Okumura et al., 1995}).",[600791],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22585,Active,Orphanet+OMIM,OMIM:600792,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 5",,,[600792],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22586,Active,Orphanet+OMIM,OMIM:600971,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 6",[Neurosensory nonsyndromic recessive deafness 6],,[600971],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22587,Active,Orphanet+OMIM,OMIM:600974,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 7","[Deafness, autosomal recessive 11]",,[600974],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22588,Active,Orphanet+OMIM,OMIM:601071,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 9",[Neurosensory nonsyndromic recessive deafness 9],,[601071],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22589,Active,Orphanet+OMIM,OMIM:601072,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 8","[deafness, childhood-onset neurosensory, autosomal recessive 8, Deafness, autosomal recessive 10, neurosensory nonsyndromic recessive deafness 8]",,[601072],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:2259,Active,Orphanet,ORPHA:2456,Disorder,[Morphological anomaly],Familial supernumerary nipples,[Isolated polythelia],"Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.",[163700],,,,,Supernumerary nipple,FALSE,FALSE,Active +GARD:22590,Active,Orphanet+OMIM,OMIM:601386,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 12",,,[601386],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22591,Active,Orphanet+OMIM,OMIM:601869,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 15","[Deafness, autosomal recessive 72, deafness, autosomal recessive 95]","This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by {3:Charizopoulou et al., 2011}).",[601869],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22592,Active,Orphanet+OMIM,OMIM:602092,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 18a","[Deafness, autosomal recessive 18]",,[602092],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22593,Active,Orphanet+OMIM,OMIM:603010,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 17",,,[603010],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22594,Active,Orphanet+OMIM,OMIM:603098,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 13",,,[603098],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22595,Active,Orphanet+OMIM,OMIM:603629,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 21",,,[603629],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22596,Active,Orphanet+OMIM,OMIM:603678,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 14",,,[603678],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22597,Active,Orphanet+OMIM,OMIM:603720,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 16",,,[603720],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22598,Active,Orphanet+OMIM,OMIM:604060,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 20",,,[604060],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22599,Active,Orphanet+OMIM,OMIM:605428,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 26",,"DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss ({3:Yousaf et al., 2018}).",[605428],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:226,Active,Orphanet,ORPHA:769,Disorder,[Malformation syndrome],Rabson-Mendenhall syndrome,,"A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).",[262190],,,,,Rabson-Mendenhall syndrome,TRUE,FALSE,Active +GARD:22600,Active,Orphanet+OMIM,OMIM:605818,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 27",,"By use of autozygosity mapping in a large consanguineous family from the United Arab Emirates, {1:Pulleyn et al. (2000)} identified a locus for autosomal recessive nonsyndromic, prelingual, sensorineural hearing impairment, designated DFNB27, on chromosome 2q23-q31. An ancestral haplotype was shared by all 7 affected members, with a 17-cM minimum critical region between markers D2S2157 and D2S2273 and a maximum 2-point lod score of 5.18 at theta = 0.0 for marker D2S2257. The DFNB27 critical region overlapped with the critical region to which another deafness locus, DFNA16 ({603964}), had been mapped in a family with fluctuating, progressive autosomal dominant nonsyndromic hearing loss. The authors noted that several sodium-channel alpha-subunit genes map to the critical region and are candidate genes for both DFNA16 and DFNB27.",[605818],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22601,Active,Orphanet+OMIM,OMIM:607039,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 22",,,[607039],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22602,Active,Orphanet+OMIM,OMIM:607084,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 31","[Whirler, mouse, homolog of]",,[607084],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22603,Active,Orphanet+OMIM,OMIM:607101,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 30",,,[607101],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22604,Active,Orphanet+OMIM,OMIM:607239,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 33",,,[607239],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22605,Active,Orphanet+OMIM,OMIM:607821,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 37",,,[607821],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22606,Active,Orphanet+OMIM,OMIM:608219,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 38",,,[608219],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22607,Active,Orphanet+OMIM,OMIM:608264,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 40",,,[608264],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22608,Active,Orphanet+OMIM,OMIM:608265,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 39",,,[608265],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22609,Active,Orphanet+OMIM,OMIM:608565,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 35",,,[608565],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22610,Active,Orphanet+OMIM,OMIM:608653,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 32, with or without immotile sperm","[deafness, autosomal recessive 105, formerly, Hearing impairment infertile male syndrome]","DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology ({2:Imtiaz et al., 2018}).",[608653],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22611,Active,Orphanet+OMIM,OMIM:609006,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 36, with or without vestibular involvement",,,[609006],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22612,Active,Orphanet+OMIM,OMIM:609439,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 48",,"DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by {3:Riazuddin et al., 2012}).",[609439],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22613,Active,Orphanet+OMIM,OMIM:609533,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 23",,,[609533],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22614,Active,Orphanet+OMIM,OMIM:609646,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 42",,,[609646],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22615,Active,Orphanet+OMIM,OMIM:609647,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 46",,,[609647],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22616,Active,Orphanet+OMIM,OMIM:609706,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 53",,,[609706],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22617,Active,Orphanet+OMIM,OMIM:609823,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 28",,,[609823],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22618,Active,Orphanet+OMIM,OMIM:610143,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 62",,,[610143],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22619,Active,Orphanet+OMIM,OMIM:610153,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 49",,"Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies ({3:Riazuddin et al., 2006} and {1:Chishti et al., 2008}).",[610153],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22620,Active,Orphanet+OMIM,OMIM:610154,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 44",,,[610154],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22621,Active,Orphanet+OMIM,OMIM:610212,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 66",,,[610212],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22622,Active,Orphanet+OMIM,OMIM:610220,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 59",,,[610220],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22623,Active,Orphanet+OMIM,OMIM:610248,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 65",,,[610248],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22624,Active,Orphanet+OMIM,OMIM:610265,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 67",,,[610265],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22625,Active,Orphanet+OMIM,OMIM:610419,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 68",,,[610419],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22626,Active,Orphanet+OMIM,OMIM:611022,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 24",,,[611022],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22627,Active,Orphanet+OMIM,OMIM:611451,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 63",,,[611451],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22628,Active,Orphanet+OMIM,OMIM:612433,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 45",,,[612433],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22629,Active,Orphanet+OMIM,OMIM:612645,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 1b",,,[612645],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:2263,Legacy,GARD,,,,,,,,,,,,Familial ventricular tachycardia,TRUE,FALSE,Active +GARD:22630,Active,Orphanet+OMIM,OMIM:612789,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 71",,,[612789],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22631,Active,Orphanet+OMIM,OMIM:613079,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 77",,,[613079],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22632,Active,Orphanet+OMIM,OMIM:613285,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 25",,,[613285],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22633,Active,Orphanet+OMIM,OMIM:613307,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 79",,,[613307],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22634,Active,Orphanet+OMIM,OMIM:613391,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 84a","[deafness, autosomal recessive 84a, with vestibular dysfunction, Deafness, autosomal recessive 84]",,[613391],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22635,Active,Orphanet+OMIM,OMIM:613392,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 85",,,[613392],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22636,Active,Orphanet+OMIM,OMIM:613453,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 91",,,[613453],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22637,Active,Orphanet+OMIM,OMIM:613685,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 83",,,[613685],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22638,Active,Orphanet+OMIM,OMIM:613718,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 74",,,[613718],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22639,Active,Orphanet+OMIM,OMIM:613865,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 61",,,[613865],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22640,Active,Orphanet+OMIM,OMIM:613916,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 89",,,[613916],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22641,Active,Orphanet+OMIM,OMIM:614035,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 29",,,[614035],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22642,Active,Orphanet+OMIM,OMIM:614414,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 96",,"Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by {1:Ansar et al., 2011}).",[614414],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22643,Active,Orphanet+OMIM,OMIM:614617,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 86",,,[614617],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22644,Active,Orphanet+OMIM,OMIM:614861,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 98",,"This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset ({1:Delmaghani et al., 2012}).",[614861],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22645,Active,Orphanet+OMIM,OMIM:614899,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 93",,"Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram ({2:Tabatabaiefar et al., 2011}).",[614899],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22646,Active,Orphanet+OMIM,OMIM:614934,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 70",,,[614934],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22647,Active,Orphanet+OMIM,OMIM:614944,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 84b",,,[614944],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22648,Active,Orphanet+OMIM,OMIM:614945,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 18b",,,[614945],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22649,Active,Orphanet+OMIM,OMIM:615429,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 88",,,[615429],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22650,Active,Orphanet+OMIM,OMIM:615540,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 76",,,[615540],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22651,Active,Orphanet+OMIM,OMIM:615837,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 101",,,[615837],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22652,Active,Orphanet+OMIM,OMIM:615974,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 102",,,[615974],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22653,Active,Orphanet+OMIM,OMIM:616042,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 103",,,[616042],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22654,Active,Orphanet+OMIM,OMIM:616515,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 104",,,[616515],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22655,Active,Orphanet+OMIM,OMIM:616705,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 97",,,[616705],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22656,Active,Orphanet+OMIM,OMIM:617637,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 106",,,[617637],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22657,Active,Orphanet+OMIM,OMIM:617639,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 107",,,[617639],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22658,Active,Orphanet+OMIM,OMIM:617654,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 108",,,[617654],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22659,Active,Orphanet+OMIM,OMIM:618145,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 111",,"DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement ({2:Wesdorp et al., 2018}; {1:Bademci et al., 2018}).",[618145],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22660,Active,Orphanet+OMIM,OMIM:618422,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 100",,"DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement ({2:Yousaf et al., 2018}).",[618422],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22661,Active,Orphanet+OMIM,OMIM:618434,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 94",,"DFNB94 is characterized by prelingual profound sensorineural hearing loss ({1:Simon et al., 2015}).",[618434],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22662,Active,Orphanet+OMIM,OMIM:618456,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 114",,"DFNB114 is characterized by congenital profound sensorineural hearing loss ({1:Li et al., 2019}).",[618456],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22663,Active,Orphanet+OMIM,OMIM:618481,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 99",,"DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction ({1:Cheng et al., 2003}).",[618481],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22664,Active,Orphanet+OMIM,OMIM:619093,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 116",,"Autosomal recessive deafness-116 (DFNB116) is characterized by slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies in younger patients ({1:Sineni et al., 2019}).",[619093],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22665,Active,Orphanet+OMIM,OMIM:619174,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 117",,"Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood ({1:Vona et al., 2021}).",[619174],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22666,Active,Orphanet+OMIM,OMIM:300046,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 23",,,[300046],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22667,Active,Orphanet+OMIM,OMIM:300047,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 20",,"Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'\n\nThe Human Gene Mapping Nomenclature Committee ({2:Mulley et al., 1992}) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers.",[300047],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22668,Active,Orphanet+OMIM,OMIM:300115,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 50","[Mental retardation, x-linked 50]",,[300115],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22669,Active,Orphanet+OMIM,OMIM:300143,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 21","[mental retardation, x-linked 34, Mental retardation, x-linked 21]","X-linked intellectual developmental disorder-21 (XLID21) is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderately impaired intellectual development to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by {11:Piton et al., 2008}).",[300143],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22670,Active,Orphanet+OMIM,OMIM:300210,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 58","[Mental retardation, x-linked 58]",,[300210],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22671,Active,Orphanet+OMIM,OMIM:300271,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 72","[Mental retardation, x-linked 72]",,[300271],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22672,Active,Orphanet+OMIM,OMIM:300324,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 53",,,[300324],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22673,Active,Orphanet+OMIM,OMIM:300355,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 73",,,[300355],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22674,Active,Orphanet+OMIM,OMIM:300372,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 42",,,[300372],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22675,Active,Orphanet+OMIM,OMIM:300428,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 2",,,[300428],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22676,Active,Orphanet+OMIM,OMIM:300433,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 81",,,[300433],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22677,Active,Orphanet+OMIM,OMIM:300436,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 46",,,[300436],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22678,Active,Orphanet+OMIM,OMIM:300454,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 77",,,[300454],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22679,Active,Orphanet+OMIM,OMIM:300498,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 45",,,[300498],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2268,Active,Orphanet,ORPHA:2088,Disorder,[Disease],Fanconi-Bickel syndrome,"[GSD due to GLUT2 deficiency, Glycogen storage disease due to GLUT2 deficiency, Glycogenosis due to GLUT2 deficiency]","A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.",[227810],,,,,Fanconi Bickel syndrome,TRUE,FALSE,Active +GARD:22680,Active,Orphanet+OMIM,OMIM:300505,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 84",,,[300505],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22681,Active,Orphanet+OMIM,OMIM:300518,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 82",,,[300518],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22682,Active,Orphanet+OMIM,OMIM:300558,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 30","[Mental retardation, x-linked 30, mental retardation, x-linked 47]",,[300558],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22683,Active,Orphanet+OMIM,OMIM:300705,Subtype of disorder,[Etiological subtype],Chromosome xp11.22 duplication syndrome,,,[300705],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22684,Active,Orphanet+OMIM,OMIM:300716,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 95",,,[300716],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22685,Active,Orphanet+OMIM,OMIM:300802,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 96","[Mental retardation, x-linked 96]",,[300802],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22686,Active,Orphanet+OMIM,OMIM:300803,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 97","[mental retardation, x-linked 65, Mental retardation, x-linked 97, mrxz]",,[300803],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22687,Active,Orphanet+OMIM,OMIM:300844,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 19","[Mental retardation, x-linked 19]","X-linked intellectual development disorder-19 (XLID19) is characterized by mildly to moderately impaired intellectual development. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; {303600}), a syndrome with impaired intellectual deveopment, dysmorphic facial features, and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with impaired intellectual development and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by {3:Field et al., 2006}).",[300844],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22688,Active,Orphanet+OMIM,OMIM:300848,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 89",,,[300848],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22689,Active,Orphanet+OMIM,OMIM:300849,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 41","[Mental retardation, x-linked 41, mental retardation, x-linked 48]",,[300849],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2269,Legacy,GARD,,,,,,,,,,,,Fanconi ichthyosis dysmorphism,TRUE,FALSE,Retired +GARD:22690,Active,Orphanet+OMIM,OMIM:300850,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 90","[Mental retardation, x-linked 90]",,[300850],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22691,Active,Orphanet+OMIM,OMIM:300851,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 92",,,[300851],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22692,Active,Orphanet+OMIM,OMIM:300852,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 88",,,[300852],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22693,Active,Orphanet+OMIM,OMIM:300919,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 99","[Mental retardation, x-linked 99]",,[300919],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22694,Active,Orphanet+OMIM,OMIM:300928,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 101","[Mental retardation, x-linked 101]",,[300928],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22695,Active,Orphanet+OMIM,OMIM:300978,Subtype of disorder,[Etiological subtype],Tonne-kalscheuer syndrome,"[mental retardation, x-linked 61, Intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia]","Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by {1:Frints et al., 2019}).\n\nAlso see Fryns syndrome ({229850}), an autosomal recessive disorder with overlapping features.",[300978],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22696,Active,Orphanet+OMIM,OMIM:300983,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 104","[Mental retardation, x-linked 104]",,[300983],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22697,Active,Orphanet+OMIM,OMIM:300984,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 105","[Mental retardation, x-linked 105]",,[300984],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22698,Active,Orphanet+OMIM,OMIM:301013,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 107","[Mental retardation, x-linked 107]",,[301013],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22699,Active,Orphanet+OMIM,OMIM:309530,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 1","[mrx, mental retardation, x-linked 18, Mental retardation, x-linked 1, mental retardation, x-linked 78]",,[309530],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2270,Legacy,GARD,,,,,,,,,,,,Fanconi like syndrome,TRUE,FALSE,Retired +GARD:22700,Active,Orphanet+OMIM,OMIM:309549,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 9","[mental retardation, x-linked 44, Mental retardation, x-linked 9]",,[309549],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2273,Legacy,GARD,,,,,,,,,,,,Fara Chlupackova syndrome,TRUE,FALSE,Active +GARD:2276,Active,Orphanet,ORPHA:2064,Disorder,[Malformation syndrome],Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,[Faulk-Epstein-Jones syndrome],A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.,[192800],,,,,Faulk Epstein Jones syndrome,TRUE,FALSE,Retired +GARD:2277,Legacy,GARD,,,,,,,,,,,,Faye-Petersen-Ward-Carey syndrome,TRUE,FALSE,Active +GARD:2279,Active,Orphanet,ORPHA:1192,Disorder,[Malformation syndrome],Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,"[Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome, Feigenbaum-Bergeron-Richardson syndrome]","A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.",[209010],,,,,Feigenbaum Bergeron Richardson syndrome,TRUE,FALSE,Active +GARD:228,Legacy,GARD,,,,,,,,,,,,Resistance to LH (luteinizing hormone),TRUE,FALSE,Retired +GARD:2280,Legacy,GARD,,,,,,,,,,,,Feigenbaum Bergeron syndrome,TRUE,FALSE,Active +GARD:2282,Legacy,GARD,,,,,,,,,,,,Feingold Trainer syndrome,TRUE,FALSE,Active +GARD:2285,Active,Orphanet,ORPHA:1986,Disorder,[Malformation syndrome],Gollop-Wolfgang complex,[Bifid femur-monodactylous ectrodactyly syndrome],"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.",[228250],,,,,Femur bifid with monodactylous ectrodactyly,TRUE,FALSE,Active +GARD:2286,Active,Orphanet,ORPHA:2019,Disorder,[Malformation syndrome],Femur-fibula-ulna complex,"[FFU complex, Femur-fibula-ulna dysostosis, Femur-fibula-ulna syndrome, PFFD]","A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.",[228200],,,,,Femur fibula ulna syndrome,TRUE,FALSE,Active +GARD:2287,Active,Orphanet,ORPHA:1184,Disorder,[Malformation syndrome],Ataxia-photosensitivity-short stature syndrome,[Fenton-Wilkinson-Toselano syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.",,,,,,Fenton Wilkinson Toselano syndrome,TRUE,FALSE,Active +GARD:229,Active,Orphanet,ORPHA:1532,Disorder,[Malformation syndrome],Gómez-López-Hernández syndrome,"[Cerebellotrigeminal-dermal dysplasia syndrome, Craniosynostosis-alopecia-brain defect syndrome]","Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.",[601853],,,,,Gomez Lopez Hernandez syndrome,TRUE,FALSE,Active +GARD:2293,Active,Orphanet+OMIM,OMIM:300073,Subtype of disorder,[Malformation syndrome subtype],"Fetal akinesia syndrome, x-linked",,"{2:Holmes et al. (1997)} reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence ({306990}).) Only affected male sibs were described in several reports: {5:Mease et al. (1976)}, {4:MacMillan et al. (1985)}, {3:Lammer et al. (1989)}, {1:Gyr et al. (1992)}. This led {2:Holmes et al. (1997)} to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence ({208150}).",[300073],[994],[Fetal akinesia deformation sequence],[9634],,Fetal akinesia syndrome X-linked,TRUE,FALSE,Active +GARD:2294,Active,Orphanet,ORPHA:1908,Disorder,[Malformation syndrome],Aminopterin/methotrexate embryofetopathy,"[Aminopterin embryopathy syndrome, Fetal aminopterin syndrome]","A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.",,,,,,Fetal aminopterin syndrome,TRUE,FALSE,Active +GARD:2295,Active,Orphanet,ORPHA:853,Disorder,[Disease],Fetal and neonatal alloimmune thrombocytopenia,"[FNAIT, NAIT]","A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.",,,,,,Fetal and neonatal alloimmune thrombocytopenia,TRUE,FALSE,Active +GARD:2296,Legacy,GARD,,,,,,,,,,,,Fetal antihypertensive drugs syndrome,TRUE,FALSE,Retired +GARD:2297,Legacy,GARD,,,,,,,,,,,,Fetal brain disruption sequence,TRUE,FALSE,Active +GARD:23,Active,Orphanet,ORPHA:126,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-epicanthus inversus syndrome,[BPES],"A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).",[110100],,,,,Blepharophimosis-epicanthus inversus-ptosis syndrome,TRUE,FALSE,Retired +GARD:230,Active,Orphanet,ORPHA:2533,Disorder,[Malformation syndrome],Microcephaly-deafness-intellectual disability syndrome,"[Kawashima-Tsuji syndrome, Microcephaly-hearing loss-intellectual disability syndrome]","Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.",[156620],,,,,Microcephaly deafness syndrome,TRUE,FALSE,Active +GARD:2300,Legacy,GARD,,,,,,,,,,,,Fetal diethylstilbestrol syndrome,TRUE,FALSE,Retired +GARD:2301,Legacy,GARD,,,,,,,,,,,,Fetal edema,TRUE,FALSE,Retired +GARD:2302,Legacy,GARD,,,,,,,,,,,,Fetal enterovirus syndrome,TRUE,FALSE,Active +GARD:2303,Active,Orphanet,ORPHA:1909,Disorder,[Malformation syndrome],Indomethacin embryofetopathy,[Fetal indomethacin syndrome],"Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.",,,,,,Fetal indomethacin syndrome,FALSE,FALSE,Retired +GARD:2304,Active,Orphanet,ORPHA:1910,Disorder,[Malformation syndrome],Fetal iodine syndrome,,"Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).",[228355],,,,,Fetal iodine syndrome,TRUE,FALSE,Active +GARD:2305,Active,Orphanet,ORPHA:1055,Disorder,[Malformation syndrome],Congenital left ventricular aneurysm,,"A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.",,,,,,Fetal left ventricular aneurysm,TRUE,FALSE,Active +GARD:2306,Legacy,GARD,,,,,,,,,,,,Fetal methimazole syndrome,FALSE,FALSE,Retired +GARD:2307,Legacy,GARD,,,,,,,,,,,,Fetal methyl mercury syndrome,FALSE,FALSE,Retired +GARD:2308,Active,Orphanet,ORPHA:1918,Disorder,[Malformation syndrome],Fetal minoxidil syndrome,[Minoxidil antenatal infection],"Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.",,,,,,Fetal minoxidil syndrome,TRUE,FALSE,Active +GARD:2309,Legacy,GARD,,,,,,,,,,,,Fetal parainfluenza virus type 3 syndrome,TRUE,FALSE,Active +GARD:231,Active,Orphanet,ORPHA:135,Disorder,[Disease],CACH syndrome,"[Childhood ataxia with diffuse central nervous system hypomyelination, Leukoencephalopathy with vanishing white matter, Myelinosis centralis diffusa]","A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.","[603896, 615889]",,,,,Leukoencephalopathy with vanishing white matter,TRUE,FALSE,Active +GARD:2310,Legacy,GARD,,,,,,,,,,,,Fetal parvovirus syndrome,TRUE,FALSE,Active +GARD:2311,Legacy,GARD,,,,,,,,,,,,Fetal phenothiazine syndrome,TRUE,FALSE,Active +GARD:2313,Active,Orphanet,ORPHA:3312,Disorder,[Malformation syndrome],Thalidomide embryopathy,[Fetal thalidomide syndrome],"Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.",,,,,,Fetal thalidomide syndrome,TRUE,FALSE,Active +GARD:2315,Legacy,GARD,,,,,,,,,,,,Fetal warfarin syndrome,TRUE,FALSE,Retired +GARD:2317,Active,Orphanet,ORPHA:93932,Disorder,[Disease],FG syndrome type 1,[Opitz-Kaveggia syndrome],"A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.",[305450],,,,,FG syndrome,TRUE,FALSE,Active +GARD:232,Active,Orphanet,ORPHA:1309,Disorder,[Morphological anomaly],Medullary sponge kidney,"[Cacchi-Ricci disease, MSK, Precalicial canalicular ectasia]","A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.",,,,,,Medullary sponge kidney,TRUE,FALSE,Active +GARD:2320,Active,Orphanet,ORPHA:335,Disorder,[Disease],Congenital fibrinogen deficiency,,Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).,"[616004, 202400]",,,,,"Fibrinogen deficiency, congenital",TRUE,FALSE,Active +GARD:2321,Active,Orphanet,ORPHA:2021,Disorder,[Disease],Fibrochondrogenesis,,"Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.","[228520, 614524]",,,,,Fibrochondrogenesis,TRUE,FALSE,Active +GARD:2322,Active,Orphanet,ORPHA:122,Disorder,[Malformation syndrome],Birt-Hogg-Dubé syndrome,"[Fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome]","A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax.",[135150],,,,,Birt-Hogg-Dube syndrome,TRUE,FALSE,Active +GARD:2324,Active,Orphanet,ORPHA:2026,Disorder,[Malformation syndrome],Gingival fibromatosis-hypertrichosis syndrome,"[CGHT, Congenital generalized hypertrichosis terminalis, Hirsutism-congenital gingival hyperplasia syndrome, Hypertrichosis with or without gingival hyperplasia]","A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.",[135400],,,,,Gingival fibromatosis with hypertrichosis,TRUE,FALSE,Active +GARD:2326,Legacy,GARD,,,,,,,,,,,,Fibromuscular dysplasia,FALSE,FALSE,Active +GARD:2327,Active,Orphanet,ORPHA:2030,Disorder,[Disease],Fibrosarcoma,,,,,,,,Fibrosarcoma,TRUE,FALSE,Active +GARD:2329,Legacy,GARD,,,,,,,,,,,,Fibula aplasia complex brachydactyly,TRUE,FALSE,Retired +GARD:233,Legacy,GARD,,,,,,,,,,,,D ercole syndrome,TRUE,FALSE,Active +GARD:2331,Active,Orphanet,ORPHA:1118,Disorder,[Malformation syndrome],Fibular aplasia-ectrodactyly syndrome,,"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.",[113310],,,,,Fibular aplasia ectrodactyly,TRUE,FALSE,Active +GARD:2333,Legacy,GARD,,,,,,,,,,,,Fibular hypoplasia scapulo pelvic dysplasia absent,TRUE,FALSE,Active +GARD:2336,Active,Orphanet,ORPHA:1658,Disorder,[Disease],Absence of fingerprints-congenital milia syndrome,"[Absence of dermatoglyphics-congenital milia syndrome, Baird syndrome, Basan-Baird syndrome]","A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.",[129200],,,,,Absence of fingerprints congenital milia,TRUE,FALSE,Active +GARD:2339,Active,Orphanet,ORPHA:85448,Disorder,[Disease],AGel amyloidosis,"[Familial amyloid polyneuropathy type IV, Familial amyloidosis, Finnish type, Gelsolin amyloidosis, Hereditary amyloidosis, Finnish type]","A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.",[105120],,,,,"Familial amyloidosis, Finnish type",TRUE,FALSE,Active +GARD:234,Active,Orphanet,ORPHA:941,Disorder,[Disease],D-glyceric aciduria,"[D-glycerate kinase deficiency, D-glyceric acidemia]","A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.",[220120],,,,,D-glycericacidemia,TRUE,FALSE,Active +GARD:2342,Active,Orphanet,ORPHA:2820,Disorder,[Clinical syndrome],Spastic paraplegia-nephritis-deafness syndrome,"[Fitzsimmons-Walson-Mellor syndrome, Spastic paraplegia-nephritis-hearing loss syndrome]","Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.",[182690],,,,,Fitzsimmons Walson Mellor syndrome,TRUE,FALSE,Active +GARD:2343,Legacy,GARD,,,,,,,,,,,,Fitzsimmons-Guilbert syndrome,TRUE,FALSE,Active +GARD:2344,Active,Orphanet,ORPHA:2824,Disorder,[Malformation syndrome],Paraplegia-intellectual disability-hyperkeratosis syndrome,[Fitzsimmons-McLachlan-Gilbert syndrome],"A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.",[309560],,,,,Fitzsimmons syndrome,TRUE,FALSE,Active +GARD:2346,Active,Orphanet,ORPHA:2045,Disorder,[Disease],FLOTCH syndrome,[Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome],"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.",,,,,,FLOTCH syndrome,TRUE,FALSE,Active +GARD:2347,Active,Orphanet,ORPHA:2047,Disorder,[Disease],Flynn-Aird syndrome,,"A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.",[136300],,,,,Flynn Aird syndrome,TRUE,FALSE,Active +GARD:2349,Legacy,GARD,,,,,,,,,,,,Focal alopecia congenital megalencephaly,TRUE,FALSE,Active +GARD:2350,Legacy,GARD,,,,,,,,,,,,Focal or multifocal malformations in neuronal migration,TRUE,FALSE,Active +GARD:2351,Active,Orphanet,ORPHA:2048,Disorder,[Malformation syndrome],Foix-Chavany-Marie syndrome,"[Bilateral anterior opercular syndrome, Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation, Facio-pharyngo-glosso-masticatory diplegia]","A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.",,,,,,Foix Chavany Marie syndrome,TRUE,FALSE,Active +GARD:2354,Legacy,GARD,,,,,,,,,,,,Basaloid follicular hamartoma,TRUE,FALSE,Active +GARD:2355,Legacy,GARD,,,,,,,,,,,,"Ichthyosis, follicular",TRUE,FALSE,Active +GARD:2356,Active,Orphanet,ORPHA:545,Disorder,[Disease],Follicular lymphoma,,Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.,[613024],,,,,Follicular lymphoma,TRUE,FALSE,Active +GARD:2357,Legacy,GARD,,,,,,,,,,,,Follicular lymphoreticuloma,TRUE,FALSE,Active +GARD:2358,Legacy,GARD,,,,,,,,,,,,Fontaine Farriaux Blanckaert syndrome,TRUE,FALSE,Active +GARD:236,Active,Orphanet,ORPHA:2186,Disorder,[Malformation syndrome],Hydrocephalus-blue sclerae-nephropathy syndrome,[Daentl-Townsend-Siegel syndrome],"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.",,,,,,Daentl Towsend Siegel syndrome,TRUE,FALSE,Active +GARD:2361,Legacy,GARD,,,,,,,,,,,,Formaldehyde poisoning,TRUE,FALSE,Active +GARD:2362,Active,Orphanet,ORPHA:3238,Disorder,[Malformation syndrome],Cardiospondylocarpofacial syndrome,"[Forney syndrome, Forney-Robinson-Pascoe syndrome, Mitral regurgitation-deafness-skeletal anomalies syndrome, Mitral regurgitation-hearing loss-skeletal anomalies syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.",[157800],,,,,"Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones",TRUE,FALSE,Active +GARD:2365,Active,Orphanet,ORPHA:2795,Disorder,[Disease],Fowler urethral sphincter dysfunction syndrome,"[Fowler syndrome, Fowler-Christmas-Chapple syndrome]","A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.",,,,,,Fowler's syndrome,TRUE,FALSE,Active +GARD:2366,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 1,TRUE,FALSE,Active +GARD:2367,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 2,TRUE,FALSE,Active +GARD:2368,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 3,TRUE,FALSE,Active +GARD:237,Active,Orphanet,ORPHA:1563,Disorder,[Malformation syndrome],Dahlberg-Borer-Newcomer syndrome,"[Dahlberg syndrome, Lymphedema-hypoparathyroidism syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.",[247410],,,,,Dahlberg Borer Newcomer syndrome,TRUE,FALSE,Active +GARD:2371,Legacy,GARD,,,,,,,,,,,,Franceschini Vardeu Guala syndrome,TRUE,FALSE,Active +GARD:2372,Legacy,GARD,,,,,,,,,,,,Franek Bocker kahlen syndrome,TRUE,FALSE,Retired +GARD:2373,Legacy,GARD,,,,,,,,,,,,Fraser Jequier Chen syndrome,TRUE,FALSE,Active +GARD:2374,Legacy,GARD,,,,,,,,,,,,Fraser like syndrome,TRUE,FALSE,Retired +GARD:2375,Active,Orphanet,ORPHA:347,Disorder,[Disease],Frasier syndrome,,"A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.",[136680],,,,,Frasier syndrome,TRUE,FALSE,Active +GARD:2377,Legacy,GARD,,,,,,,,,,,,FRAXD,TRUE,FALSE,Active +GARD:2378,Active,Orphanet,ORPHA:100973,Disorder,[Disease],FRAXE intellectual disability,[Intellectual disability associated with fragile site FRAXE],"A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.",[309548],,,,,Fragile XE syndrome,TRUE,FALSE,Active +GARD:238,Active,Orphanet,ORPHA:2724,Disorder,[Malformation syndrome],Odontomatosis-aortae esophagus stenosis syndrome,[Boder syndrome],"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.",[164330],,,,,Odontoma dysphagia syndrome,TRUE,FALSE,Active +GARD:2380,Active,Orphanet,ORPHA:564003,Disorder,[Disease],Osteochondrosis of the metatarsal bone,"[Avascular necrosis of the metatarsal bone, Freiberg disease, Freiberg infraction]","A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.",,,,,,Freiberg's disease,TRUE,FALSE,Active +GARD:2381,Active,Orphanet,ORPHA:2723,Disorder,[Malformation syndrome],Odontotrichomelic syndrome,[Freire-Maia syndrome],"A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.",[273400],,,,,Odontotrichomelic syndrome,TRUE,FALSE,Active +GARD:2383,Legacy,GARD,,,,,,,,,,,,Frenkel Russe syndrome,TRUE,FALSE,Active +GARD:2384,Active,Orphanet,ORPHA:264200,Disorder,[Malformation syndrome],14q22q23 microdeletion syndrome,"[14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23]","14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.",[609640],,,,,Frias syndrome,TRUE,FALSE,Active +GARD:2386,Legacy,GARD,,,,,,,,,,,,Friedel Heid Grosshans syndrome,TRUE,FALSE,Retired +GARD:2387,Legacy,GARD,,,,,,,,,,,,Friedman Goodman syndrome,TRUE,FALSE,Retired +GARD:2388,Legacy,GARD,,,,,,,,,,,,Friedreich ataxia congenital glaucoma,TRUE,FALSE,Retired +GARD:2389,Legacy,GARD,,,,,,,,,,,,Fronto nasal malformation cloacal exstrophy,TRUE,FALSE,Active +GARD:239,Active,Orphanet,ORPHA:3132,Disorder,[Malformation syndrome],Say-Barber-Miller syndrome,[Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome],"Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.",[251240],,,,,Say Barber Miller syndrome,TRUE,FALSE,Active +GARD:2390,Active,Orphanet,ORPHA:1791,Disorder,[Malformation syndrome],Frontofacionasal dysplasia,[Gollop syndrome],"A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).",[229400],,,,,Frontofacionasal dysplasia,TRUE,FALSE,Active +GARD:2392,Active,Orphanet,ORPHA:250,Group of disorders,[Clinical group],Frontonasal dysplasia,[Median cleft face syndrome],"A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.",,,,,,Frontonasal dysplasia,TRUE,FALSE,Active +GARD:2393,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia acromelic,TRUE,FALSE,Active +GARD:2394,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia Klippel Feil syndrome,TRUE,FALSE,Active +GARD:2395,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia phocomelic upper limbs,TRUE,FALSE,Active +GARD:2397,Active,Orphanet,ORPHA:2141,Disorder,[Malformation syndrome],Diaphragmatic defect-limb deficiency-skull defect syndrome,[Froster-Huch syndrome],"Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.",[601163],,,,,Froster-Huch syndrome,TRUE,FALSE,Active +GARD:2399,Legacy,GARD,,,,,,,,,,,,Acquired fructose intolerance,FALSE,FALSE,Retired +GARD:240,Legacy,GARD,,,,,,,,,,,,Say Carpenter syndrome,TRUE,FALSE,Active +GARD:2400,Active,Orphanet,ORPHA:348,Disorder,[Disease],"Fructose-1,6-bisphosphatase deficiency","[FBPase deficiency, Fructose-1,6-diphosphatase deficiency]","Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.",[229700],,,,,"Fructose-1,6-bisphosphatase deficiency",TRUE,FALSE,Active +GARD:2407,Legacy,GARD,,,,,,,,,,,,Fryns Fabry Remans syndrome,TRUE,FALSE,Active +GARD:2408,Active,Orphanet,ORPHA:2497,Disorder,[Malformation syndrome],Upper limb mesomelic dysplasia,"[Fryns-Hofkens-Fabry syndrome, Ulna hypoplasia]","This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.",[191440],,,,,Fryns Hofkens Fabry syndrome,TRUE,FALSE,Active +GARD:2409,Active,Orphanet,ORPHA:2058,Disorder,[Malformation syndrome],Fryns-Smeets-Thiry syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994.",,,,,,Fryns smeets thiry syndrome,TRUE,FALSE,Active +GARD:241,Active,Orphanet,ORPHA:1003,Disorder,[Malformation syndrome],Scalp defects-postaxial polydactyly syndrome,,"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.",[181250],,,,,Scalp defects postaxial polydactyly,TRUE,FALSE,Active +GARD:2410,Active,Orphanet,ORPHA:2854,Disorder,[Malformation syndrome],Fuhrmann syndrome,"[Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome, Fuhrmann-Rieger-de Sousa syndrome]","Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.",[228930],,,,,Fuhrmann syndrome,TRUE,FALSE,Active +GARD:2411,Legacy,GARD,,,,,,,,,,,,Fukuda Miyanomae Nakata syndrome,TRUE,FALSE,Active +GARD:2414,Legacy,GARD,,,,,,,,,,,,Functioning pancreatic endocrine tumor,TRUE,FALSE,Active +GARD:2415,Legacy,GARD,,,,,,,,,,,,Fuqua Berkovitz syndrome,TRUE,FALSE,Active +GARD:2417,Active,Orphanet,ORPHA:2579,Disorder,[Disease],Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,[Furukawa-Takagi-Nakao syndrome],"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.",[158500],,,,,Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus,TRUE,FALSE,Active +GARD:2418,Active,Orphanet,ORPHA:591,Disorder,[Disease],Furuncular myiasis,"[Furunculoid myiasis, Furunculous myiasis]",Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).,,,,,,Furunculous myiasis,TRUE,FALSE,Active +GARD:2419,Active,Orphanet,ORPHA:2287,Disorder,[Morphological anomaly],Fused mandibular incisors,,"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.",[147251],,,,,Fused mandibular incisors,TRUE,FALSE,Active +GARD:242,Legacy,GARD,,,,,,,,,,,,Say-Field-Coldwell syndrome,TRUE,FALSE,Active +GARD:2422,Active,Orphanet,ORPHA:79237,Disorder,[Disease],Galactokinase deficiency,"[GALK deficiency, GALK-D, Galactokinase deficiency galactosemia, Galactosemia type 2]","A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.",[230200],,,,,Galactokinase deficiency,TRUE,FALSE,Active +GARD:2424,Active,Orphanet,ORPHA:352,Group of disorders,[Category],Galactosemia,,"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).","[230200, 230400, 230350]",,,,,Galactosemia,TRUE,FALSE,Active +GARD:2427,Active,Orphanet,ORPHA:3035,Disorder,[Malformation syndrome],Growth delay-hydrocephaly-lung hypoplasia syndrome,[Game-Friedman-Paradice syndrome],"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.",[236640],,,,,Game Friedman Paradice syndrome,TRUE,FALSE,Active +GARD:2428,Active,Orphanet,ORPHA:212,Disorder,[Disease],Cystathioninuria,"[Cystathionase deficiency, Cystathionine gamma-lyase deficiency syndrome, Gamma-cystathionase deficiency]",A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.,[219500],,,,,Gamma-cystathionase deficiency,TRUE,FALSE,Active +GARD:2429,Active,Orphanet,ORPHA:353,Disorder,[Disease],Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,"[Autosomal recessive limb-girdle muscular dystrophy type 2C, Gamma-sarcoglycan-related LGMD R5, Gamma-sarcoglycanopathy, LGMD due to gamma-sarcoglycan deficiency, LGMD type 2C, LGMD2C, Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2C]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.",[253700],,,,,"Limb-girdle muscular dystrophy, type 2C",TRUE,FALSE,Active +GARD:243,Active,Orphanet,ORPHA:3369,Disorder,[Malformation syndrome],Trigonocephaly-short stature-developmental delay syndrome,[Say-Meyer syndrome],"A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.",[314320],,,,,Say Meyer syndrome,TRUE,FALSE,Active +GARD:2430,Active,Orphanet,ORPHA:251949,Disorder,[Disease],Ganglioglioma,,"Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.",,,,,,Ganglioglioma,TRUE,FALSE,Active +GARD:2431,Active,Orphanet,ORPHA:79257,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 3,[Adult-onset GM1 gangliosidosis],"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.",[230650],,,,,GM1 gangliosidosis type 3,TRUE,FALSE,Active +GARD:2432,Active,Orphanet,ORPHA:1018,Subtype of disorder,[Clinical subtype],X-linked Alport syndrome-diffuse leiomyomatosis,[Xq22.3 microdeletion syndrome],"A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.","[150700, 308940]",,,,,"Leiomyomatosis, esophageal and vulval, with nephropathy",TRUE,FALSE,Active +GARD:2433,Legacy,GARD,,,,,,,,,,,,Gardner Morrison Abbot syndrome,TRUE,FALSE,Retired +GARD:2435,Legacy,GARD,,,,,,,,,,,,Garret Tripp syndrome,TRUE,FALSE,Active +GARD:2436,Active,Orphanet,ORPHA:2494,Disorder,[Disease],Ménétrier disease,"[Giant hypertrophic gastritis, Hypoproteinemic hypertrophic gastropathy]","Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.",[137280],,,,,Menetrier disease,TRUE,FALSE,Active +GARD:2437,Active,Orphanet,ORPHA:100092,Group of disorders,[Category],Gastroenteropancreatic neuroendocrine neoplasm,[GEP-NEN],,,,,,,Gastro-enteropancreatic neuroendocrine tumor,TRUE,FALSE,Active +GARD:2438,Active,Orphanet,ORPHA:2069,Disorder,[Disease],Gastrocutaneous syndrome,,"A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.",[137270],,,,,Gastrocutaneous syndrome,TRUE,FALSE,Active +GARD:2441,Active,Orphanet,ORPHA:77259,Subtype of disorder,[Clinical subtype],Gaucher disease type 1,[Non-cerebral juvenile Gaucher disease],"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.",[230800],,,,,Gaucher disease type 1,TRUE,FALSE,Active +GARD:2442,Active,Orphanet,ORPHA:77260,Subtype of disorder,[Clinical subtype],Gaucher disease type 2,"[Acute neuronopathic Gaucher disease, Infantile cerebral Gaucher disease]","Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.",[230900],,,,,Gaucher disease type 2,TRUE,FALSE,Active +GARD:2443,Active,Orphanet,ORPHA:77261,Subtype of disorder,[Clinical subtype],Gaucher disease type 3,"[Cerebral juvenile and adult form of Gaucher disease, Chronic neuronopathic Gaucher disease, Gaucher disease, subacute neuronopathic type]","Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).",[231000],,,,,Gaucher disease type 3,TRUE,FALSE,Active +GARD:2444,Legacy,GARD,,,,,,,,,,,,Gaucher ichthyosis restrictive dermopathy,TRUE,FALSE,Active +GARD:2445,Legacy,GARD,,,,,,,,,,,,Gaucher-like disease,TRUE,FALSE,Retired +GARD:2446,Legacy,GARD,,,,,,,,,,,,Gay Feinmesser Cohen syndrome,TRUE,FALSE,Active +GARD:2447,Legacy,GARD,,,,,,,,,,,,Green Sandford Davison syndrome,TRUE,FALSE,Active +GARD:2448,Legacy,GARD,,,,,,,,,,,,Gelatinous ascites,TRUE,FALSE,Retired +GARD:2449,Active,Orphanet,ORPHA:2623,Disorder,[Malformation syndrome],Geleophysic dysplasia,[Geleophysic dwarfism],"A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').","[614185, 231050, 617809]",,,,,Geleophysic dwarfism,TRUE,FALSE,Active +GARD:2451,Active,Orphanet,ORPHA:2074,Disorder,[Malformation syndrome],Gemignani syndrome,"[Spinocerebellar ataxia-amyotrophy-deafness syndrome, Spinocerebellar ataxia-amyotrophy-hearing loss syndrome]","Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.",,,,,,Gemignani syndrome,TRUE,FALSE,Active +GARD:2452,Active,Orphanet,ORPHA:2084,Disorder,[Malformation syndrome],Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,[GEMSS syndrome],"Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).",[608328],,,,,"Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome",TRUE,FALSE,Active +GARD:2454,Active,Orphanet,ORPHA:2163,Disorder,[Malformation syndrome],Holoprosencephaly-craniosynostosis syndrome,"[Camero-Lituania-Cohen syndrome, Genoa syndrome]","Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.",[601370],,,,,Genoa syndrome,TRUE,FALSE,Active +GARD:2455,Legacy,GARD,,,,,,,,,,,,Genetic reflex epilepsy,TRUE,FALSE,Active +GARD:2456,Active,Orphanet+OMIM,OMIM:607948,Subtype of disorder,[Disease subtype],"Mycobacterium tuberculosis, susceptibility to",,"Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by {9:Berrington and Hawn, 2007}).",[607948],[3389],[Tuberculosis],[7827],,"Mycobacterium tuberculosis, susceptibility to infection by",TRUE,FALSE,Retired +GARD:2458,Legacy,GARD,,,,,,,,,,,,Genital dwarfism,TRUE,FALSE,Active +GARD:2459,Legacy,GARD,,,,,,,,,,,,"Genital dwarfism, Turner type",TRUE,FALSE,Active +GARD:246,Active,Orphanet,ORPHA:63862,Disorder,[Malformation syndrome],Schisis association,,"Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.",,,,,,Schisis association,TRUE,FALSE,Active +GARD:2460,Active,Orphanet,ORPHA:2075,Disorder,[Malformation syndrome],Genitopalatocardiac syndrome,[Gardner-Silengo-Wachtel syndrome],"Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.",[231060],,,,,Genito palato cardiac syndrome,TRUE,FALSE,Active +GARD:2462,Active,Orphanet,ORPHA:2077,Disorder,[Malformation syndrome],German syndrome,[Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome],"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.",[231080],,,,,German syndrome,TRUE,FALSE,Retired +GARD:2464,Legacy,GARD,,,,,,,,,,,,Gershinibaruch Leibo syndrome,TRUE,FALSE,Active +GARD:2467,Legacy,GARD,,,,,,,,,,,,Ghose Sachdev Kumar syndrome,TRUE,FALSE,Active +GARD:2468,Legacy,GARD,,,,,,,,,,,,Giant ganglionic hyperplasia,TRUE,FALSE,Retired +GARD:2469,Active,Orphanet,ORPHA:626,Disorder,[Disease],Large congenital melanocytic nevus,"[Congenital pigmented nevus, GMN, Giant congenital melanocytic nevus, Giant pigmented hairy nevus, LCMN]","A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.",[137550],,,,,Giant congenital nevus,TRUE,FALSE,Active +GARD:247,Active,Orphanet,ORPHA:3134,Disorder,[Malformation syndrome],SCARF syndrome,,"A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.",[312830],,,,,SCARF syndrome,TRUE,FALSE,Active +GARD:2470,Active,Orphanet,ORPHA:274,Disorder,[Disease],Bernard-Soulier syndrome,"[Giant platelet syndrome, Hemorrhagiparous thrombocytic dystrophy]","A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.","[153670, 231200]",,,,,Giant platelet syndrome,TRUE,FALSE,Active +GARD:2471,Legacy,GARD,,,,,,,,,,,,Gigantism advanced bone age hoarse cry,TRUE,FALSE,Active +GARD:2474,Active,Orphanet+OMIM,OMIM:605544,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 2",,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by {1:Xiao et al., 2001}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300}).",[605544],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 2",TRUE,FALSE,Active +GARD:2475,Active,Orphanet+OMIM,OMIM:611010,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 4",,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive overgrowth of the oral gingival tissues, which results in the teeth being partially or totally engulfed by keratinized gingiva (summary by {1:Zhu et al., 2007}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 ({135300}).",[611010],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 4",TRUE,FALSE,Active +GARD:2478,Active,Orphanet,ORPHA:849,Disorder,[Disease],Glanzmann thrombasthenia,,Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.,"[619267, 273800]",,,,,Glanzmann thrombasthenia,TRUE,FALSE,Active +GARD:2479,Legacy,GARD,,,,,,,,,,,,Glass-Chapman-Hockley syndrome,TRUE,FALSE,Retired +GARD:248,Active,Orphanet,ORPHA:1383,Disorder,[Malformation syndrome],Cataract-deafness-hypogonadism syndrome,"[Cataract-hearing loss-hypogonadism syndrome, Schaap-Taylor-Baraitser syndrome]","Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.",,,,,,Schaap Taylor Baraitser syndrome,TRUE,FALSE,Active +GARD:2482,Legacy,GARD,,,,,,,,,,,,Glaucoma iridogoniodysgenesia,TRUE,FALSE,Active +GARD:2483,Active,Orphanet,ORPHA:2085,Disorder,[Disease],Glaucoma-sleep apnea syndrome,,Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).,[137763],,,,,Glaucoma sleep apnea,TRUE,FALSE,Active +GARD:2484,Legacy,GARD,,,,,,,,,,,,Glaucoma type 1C,TRUE,FALSE,Active +GARD:2485,Active,Orphanet,ORPHA:98976,Disorder,[Disease],Congenital glaucoma,"[Buphthalmia, Buphthalmos, Buphthalmus, Primary congenital glaucoma]","A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.","[613085, 613086, 231300, 600975, 617272]",,,,,"Glaucoma, congenital",TRUE,FALSE,Active +GARD:2486,Active,Orphanet,ORPHA:359,Group of disorders,[Category],Pediatric-onset glaucoma of genetic origin,[Hereditary glaucoma],"A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.",,,,,,"Glaucoma, hereditary",TRUE,FALSE,Active +GARD:2487,Legacy,GARD,,,,,,,,,,,,"Glaucoma, hereditary adult type 1A",TRUE,FALSE,Active +GARD:2488,Legacy,GARD,,,,,,,,,,,,"Glaucoma, hereditary juvenile type 1B",TRUE,FALSE,Active +GARD:2489,Legacy,GARD,,,,,,,,,,,,"Glaucoma, primary infantile type 3A",TRUE,FALSE,Active +GARD:249,Active,Orphanet+OMIM,OMIM:122860,Subtype of disorder,[Malformation syndrome subtype],"Craniodiaphyseal dysplasia, autosomal dominant",,"Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by {2:Brueton and Winter, 1990}). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by {4:Kim et al., 2011}).",[122860],[1513],[Craniodiaphyseal dysplasia],[1567],,Schaefer Stein Oshman syndrome,TRUE,FALSE,Active +GARD:2490,Active,Orphanet+OMIM,OMIM:600975,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary infantile, b",,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).",[600975],[98976],[Congenital glaucoma],[2485],,Glaucoma 3 primary infantile B,TRUE,FALSE,Active +GARD:2491,Active,Orphanet,ORPHA:360,Disorder,[Disease],Glioblastoma,"[GBM, Glioblastoma multiforme]",Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).,"[137800, 613029]",,,,,Glioblastoma,TRUE,FALSE,Active +GARD:2492,Active,Orphanet+OMIM,OMIM:137940,Subtype of disorder,[Disease subtype],Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,"[telangiectatic membranoproliferative glomerulonephritis, Glomerulonephritis with sparse hair and telangiectases]","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by {3:Moalem et al., 2015}).",[137940],[69735],[Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome],[12827],,Glomerulonephritis with sparse hair and telangiectases,TRUE,FALSE,Active +GARD:2495,Legacy,GARD,,,,,,,,,,,,Glossopalatine ankylosis micrognathia ear anomalies,TRUE,FALSE,Active +GARD:2496,Active,Orphanet,ORPHA:97280,Disorder,[Disease],Glucagonoma,[Glucagonoma syndrome],"Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.",,,,,,Glucagonoma,TRUE,FALSE,Active +GARD:2498,Active,Orphanet,ORPHA:361,Disorder,[Disease],Familial glucocorticoid deficiency,,"Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.","[609197, 617825, 614736, 607398, 202355, 202200]",,,,,Familial glucocorticoid deficiency,TRUE,FALSE,Active +GARD:2499,Active,Orphanet,ORPHA:786,Disorder,[Disease],Generalized glucocorticoid resistance syndrome,,"A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.",[615962],,,,,Glucocorticoid resistance,TRUE,FALSE,Active +GARD:250,Active,Orphanet,ORPHA:800,Disorder,[Disease],Schwartz-Jampel syndrome,"[Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type, Myotonic chondrodystrophy, Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Osteochondromuscular dystrophy, SJS, SJS1, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome]","A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).",[255800],,,,,Schwartz Jampel syndrome,TRUE,FALSE,Active +GARD:2501,Legacy,GARD,,,,,,,,,,,,Glucose-6-phosphate translocase deficiency,TRUE,FALSE,Active +GARD:2502,Legacy,GARD,,,,,,,,,,,,Glucosephosphate isomerase deficiency,TRUE,FALSE,Active +GARD:2503,Legacy,GARD,,,,,,,,,,,,"Glucosidase acid-1,4-alpha deficiency",TRUE,FALSE,Active +GARD:2505,Legacy,GARD,,,,,,,,,,,,Glutamate decarboxylase deficiency,TRUE,FALSE,Active +GARD:251,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease with ptosis and parkinsonism,TRUE,FALSE,Retired +GARD:2510,Legacy,GARD,,,,,,,,,,,,Glyceraldehyde-3-phosphate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:2513,Active,Orphanet,ORPHA:2089,Disorder,[Disease],Glycogen storage disease due to hepatic glycogen synthase deficiency,"[GSD due to hepatic glycogen synthase deficiency, GSD type 0a, Glycogen storage disease due to liver glycogen synthase deficiency, Glycogen storage disease type 0a, Glycogenosis type 0a]","A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.",[240600],,,,,"Glycogen storage disease type 0, liver",TRUE,FALSE,Active +GARD:2515,Active,Orphanet,ORPHA:79259,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,"[G6P deficiency type Ib, G6P translocase deficiency, G6PT deficiency, GSD due to G6P deficiency type 1b, GSD due to G6P deficiency type Ib, GSD due to G6PT deficiency, GSD type 1 non a, GSD type 1b, GSD type Ib, GSDIb, Glycogen storage disease due to G6P deficiency type Ib, Glycogen storage disease type 1b, Glycogen storage disease type Ib, Glycogenosis due to glucose-6-phosphatase deficiency type 1b, Glycogenosis due to glucose-6-phosphatase transport defect type Ib, Glycogenosis type 1b, Glycogenosis type Ib]","Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).","[232240, 232220]",,,,,Glycogen storage disease type 1B,TRUE,FALSE,Active +GARD:2519,Legacy,GARD,,,,,,,,,,,,"Glycogen storage disease type 6, due to phosphorylation",TRUE,FALSE,Retired +GARD:2520,Active,Orphanet,ORPHA:367,Disorder,[Disease],Glycogen storage disease due to glycogen branching enzyme deficiency,"[Amylopectinosis, Andersen disease, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV, Glycogen storage disease type 4, Glycogen storage disease type IV, Glycogenosis due to glycogen branching enzyme deficiency, Glycogenosis type 4, Glycogenosis type IV]","Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).","[232500, 263570]",,,,,Glycogen storage disease type 4,TRUE,FALSE,Active +GARD:2521,Active,Orphanet,ORPHA:796,Disorder,[Disease],Sandhoff disease,"[GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency]",Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.,[268800],,,,,"GM2 gangliosidosis, 0 variant",TRUE,FALSE,Active +GARD:2522,Legacy,GARD,,,,,,,,,,,,"GM2-gangliosidosis, B, B1, AB variant",TRUE,FALSE,Active +GARD:2523,Active,Orphanet,ORPHA:2090,Disorder,[Malformation syndrome],GMS syndrome,[Goniodysgenesis-intellectual disability-short stature syndrome],"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.",[138770],,,,,GMS syndrome,TRUE,FALSE,Active +GARD:253,Legacy,GARD,,,,,,,,,,,,Schwartz Cohen-Addad Lambert syndrome,TRUE,FALSE,Active +GARD:2532,Legacy,GARD,,,,,,,,,,,,"Trichomegaly, cataract, and hereditary spherocytosis",TRUE,FALSE,Retired +GARD:2533,Legacy,GARD,,,,,,,,,,,,Gollop Coates syndrome,TRUE,FALSE,Active +GARD:2537,Legacy,GARD,,,,,,,,,,,,GOMBO syndrome,TRUE,FALSE,Active +GARD:2538,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis,TRUE,FALSE,Active +GARD:2539,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis mixed,TRUE,FALSE,Active +GARD:254,Legacy,GARD,,,,,,,,,,,,Schroer Hammer Mauldin syndrome,TRUE,FALSE,Retired +GARD:2540,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis Turner type,TRUE,FALSE,Active +GARD:2541,Active,Orphanet,ORPHA:1770,Disorder,[Malformation syndrome],XY type gonadal dysgenesis-associated anomalies syndrome,,"A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.",[233430],,,,,Gonadal dysgenesis XY type associated anomalies,TRUE,FALSE,Active +GARD:2542,Active,Orphanet,ORPHA:2855,Disorder,[Disease],Perrault syndrome,"[XX gonodal dysgenesis-deafness syndrome, XX gonodal dysgenesis-hearing loss syndrome]","Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.","[233400, 616138, 614926, 615300, 617565, 614129]",,,,,Perrault syndrome,TRUE,FALSE,Active +GARD:2545,Legacy,GARD,,,,,,,,,,,,Goniodysgenesis mental retardation short stature,TRUE,FALSE,Retired +GARD:2546,Active,Orphanet,ORPHA:1482,Disorder,[Disease],Gonococcal conjunctivitis,,"A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.",,,,,,Gonococcal conjunctivitis,TRUE,FALSE,Active +GARD:2549,Active,Orphanet,ORPHA:65798,Disorder,[Malformation syndrome],Goodman syndrome,"[ACPS4, Acrocephalopolysyndactyly type 4]","A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability. There have been no further descriptions in the literature since 1992.",[201020],,,,,Goodman syndrome,TRUE,FALSE,Retired +GARD:255,Legacy,GARD,,,,,,,,,,,,Schlegelberger Grote syndrome,TRUE,FALSE,Active +GARD:2551,Active,Orphanet,ORPHA:375,Disorder,[Disease],Anti-glomerular basement membrane disease,"[Anti-GBM syndrome, Goodpasture syndrome]","A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage.",[233450],,,,,Goodpasture syndrome,TRUE,FALSE,Active +GARD:2553,Active,Orphanet,ORPHA:376,Disorder,[Malformation syndrome],Gordon syndrome,"[Camptodactyly-cleft palate-clubfoot syndrome, Distal arthrogryposis type 3, Distal arthrogryposis type IIA]","Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.",[114300],,,,,Gordon syndrome,TRUE,FALSE,Active +GARD:2555,Legacy,GARD,,,,,,,,,,,,Gorlin Bushkell Jensen syndrome,TRUE,FALSE,Retired +GARD:2557,Active,Orphanet,ORPHA:2111,Disorder,[Disease],Cystic hamartoma of lung and kidney,[Graham-Boyle-Troxell syndrome],"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.",,,,,,Graham Boyle Troxell syndrome,TRUE,FALSE,Active +GARD:2558,Legacy,GARD,,,,,,,,,,,,Grand Kaine Fulling syndrome,TRUE,FALSE,Retired +GARD:2559,Active,Orphanet,ORPHA:2097,Disorder,[Malformation syndrome],Grant syndrome,,"Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.",[138930],,,,,Grant syndrome,TRUE,FALSE,Active +GARD:256,Legacy,GARD,,,,,,,,,,,,Schrander-Stumpel Theunissen Hulsmans syndrome,TRUE,FALSE,Active +GARD:2562,Active,Orphanet,ORPHA:721,Disorder,[Disease],Gray platelet syndrome,"[Alpha storage pool deficiency, GPS, Platelet alpha-granule deficiency]","Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.","[187900, 139090]",,,,,Gray platelet syndrome,TRUE,FALSE,Active +GARD:2566,Active,Orphanet,ORPHA:79476,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 1,"[Griscelli-Pruniéras syndrome type 1, Hypopigmentation-neurologic impairment syndrome]",,[214450],,,,,Griscelli syndrome type 1,TRUE,FALSE,Active +GARD:2567,Legacy,GARD,,,,,,,,,,,,Grix Blankenship Peterson syndrome,TRUE,FALSE,Active +GARD:2568,Active,Orphanet,ORPHA:3217,Disorder,[Disease],Deafness-small bowel diverticulosis-neuropathy syndrome,"[Groll-Hirschowitz syndrome, Hearing loss-small bowel diverticulosis-neuropathy syndrome]","A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.",[221400],,,,,Groll Hirschowitz syndrome,TRUE,FALSE,Active +GARD:257,Active,Orphanet,ORPHA:3041,Disorder,[Malformation syndrome],Intellectual disability-balding-patella luxation-acromicria syndrome,[Scholte-Begeer-van Essen syndrome],"Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.",[300977],,,,,Scholte syndrome,TRUE,FALSE,Active +GARD:2570,Legacy,GARD,,,,,,,,,,,,Growth deficiency brachydactyly unusual facies,TRUE,FALSE,Retired +GARD:2572,Active,Orphanet,ORPHA:2588,Disorder,[Malformation syndrome],Myhre syndrome,"[Facial dysmorphism-intellectual disability-short stature-deafness syndrome, Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome]","A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.",[139210],,,,,Myhre syndrome,TRUE,FALSE,Active +GARD:2573,Legacy,GARD,,,,,,,,,,,,Growth retardation alopecia pseudoanodontia optic,TRUE,FALSE,Retired +GARD:2574,Legacy,GARD,,,,,,,,,,,,Growth retardation hydrocephaly lung hypoplasia,TRUE,FALSE,Active +GARD:2575,Legacy,GARD,,,,,,,,,,,,Growth retardation mental retardation phalangeal hypoplasia,TRUE,FALSE,Retired +GARD:2576,Active,Orphanet,ORPHA:2101,Disorder,[Malformation syndrome],Grubben-de Cock-Borghgraef syndrome,[Developmental delay-hypotonia-extremities hypertrophy syndrome],"Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.",[233810],,,,,Grubben de Cock Borghgraef syndrome,TRUE,FALSE,Active +GARD:2578,Active,Orphanet,ORPHA:382,Disorder,[Disease],Guanidinoacetate methyltransferase deficiency,[GAMT deficiency],"Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.",[612736],,,,,Guanidinoacetate methyltransferase deficiency,TRUE,FALSE,Active +GARD:2579,Active,Orphanet+OMIM,OMIM:259700,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 1","[marble bones, autosomal recessive, Osteopetrosis, infantile malignant 1, albers-schonberg disease, autosomal recessive]","Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by {1:Aker et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Osteopetrosis\n\nOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 ({611490}), which is caused by mutation in the CLCN7 gene ({602727}) on chromosome 16p13, and OPTB5 ({259720}), which is caused by mutation in the OSTM1 gene ({607649}) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; {259710}) is caused by mutation in the TNFSF11 gene ({602642}) on chromosome 13q14, an intermediate form (OPTB6; {611497}) is caused by mutation in the PLEKHM1 gene ({611466}) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; {612301}) is caused by mutation in the TNFRSF11A gene ({603499}) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; {615085}) is caused by mutation in the SNX10 gene ({614780}) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; {259730}) is caused by mutation in the CA2 gene ({611492}) on chromosome 8q21.\n\nAutosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).",[259700],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 1,TRUE,FALSE,Active +GARD:258,Active,Orphanet,ORPHA:2252,Disorder,[Malformation syndrome],Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,[Schmitt-Gillenwater-Kelly syndrome],"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.",[179250],,,,,Schmitt Gillenwater Kelly syndrome,TRUE,FALSE,Retired +GARD:2580,Active,Orphanet,ORPHA:1661,Disorder,[Disease],X-linked corneal dermoid,"[Corneal dystrophy epithelial-short stature syndrome, Guízar Vázquez-Luengas-Muñoz syndrome]","X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.",[304730],,,,,Dermoids of cornea,TRUE,FALSE,Active +GARD:2582,Legacy,GARD,,,,,,,,,,,,Hair defect-photosensitivity-intellectual disability syndrome,TRUE,FALSE,Active +GARD:2586,Active,Orphanet,ORPHA:2107,Disorder,[Malformation syndrome],Hall-Riggs syndrome,,"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.",[234250],,,,,Hall-Riggs syndrome,TRUE,FALSE,Active +GARD:2589,Active,Orphanet,ORPHA:2926,Disorder,[Malformation syndrome],Digital extensor muscle aplasia-polyneuropathy,"[Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, Hamanishi-Ueba-Tsuji syndrome, Polyneuropathy-hand defect syndrome]","Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.",[207740],,,,,Hamanishi Ueba Tsuji syndrome,TRUE,FALSE,Active +GARD:259,Active,Orphanet,ORPHA:3145,Disorder,[Disease],Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,,"A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.",[221995],,,,,Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,TRUE,FALSE,Active +GARD:2593,Active,Orphanet,ORPHA:1927,Disorder,[Malformation syndrome],Emery-Nelson syndrome,[Hand and foot deformity-flat facies syndrome],"Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.",[139750],,,,,Hand and foot deformity with flat facies,TRUE,FALSE,Active +GARD:2594,Active,Orphanet,ORPHA:2438,Disorder,[Malformation syndrome],Hand-foot-genital syndrome,"[HFGS, Hand-foot-uterus syndrome]",Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.,[140000],,,,,Hand foot uterus syndrome,TRUE,FALSE,Active +GARD:2597,Active,Orphanet,ORPHA:3294,Disorder,[Malformation syndrome],Extensor tendons of finger anomalies,[Hapnes-Boman-Skeie syndrome],"Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.",[187390],,,,,"Tendons, extensor, of fingers, anomalous insertion of",TRUE,FALSE,Active +GARD:2598,Active,Orphanet,ORPHA:2812,Disorder,[Disease],Parana hard skin syndrome,"[Hard skin syndrome, Parana type]","Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.",[260530],,,,,Hard skin syndrome Parana type,TRUE,FALSE,Active +GARD:2599,Active,Orphanet,ORPHA:899,Disorder,[Disease],Walker-Warburg syndrome,"[HARD syndrome, Hydrocephalus-agyria-retinal dysplasia syndrome, WWS]",Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.,"[613153, 615041, 613154, 253800, 618135, 616538, 614643, 615181, 236670, 253280, 613150, 615249, 615287, 614830]",,,,,Walker-Warburg syndrome,TRUE,FALSE,Active +GARD:26,Active,Orphanet,ORPHA:195,Disorder,[Malformation syndrome],Cat-eye syndrome,[CES],"Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.",[115470],,,,,Cat eye syndrome,TRUE,FALSE,Active +GARD:2600,Active,Orphanet,ORPHA:1177,Disorder,[Disease],Early-onset cerebellar ataxia with retained tendon reflexes,"[EOCA, EOCARR, Harding ataxia]","Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.",[212895],,,,,Harding ataxia,TRUE,FALSE,Active +GARD:2601,Active,Orphanet,ORPHA:2115,Disorder,[Malformation syndrome],Harrod syndrome,[Cranio-facio-digito-genital syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.",[601095],,,,,Harrod Doman Keele syndrome,TRUE,FALSE,Active +GARD:2604,Legacy,GARD,,,,,,,,,,,,Hashimoto-Pritzker syndrome,TRUE,FALSE,Active +GARD:2605,Active,Orphanet,ORPHA:2994,Disorder,[Malformation syndrome],Short stature-craniofacial anomalies-genital hypoplasia syndrome,[Haspeslagh-Fryns-Muelenaere syndrome],"A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.",[177980],,,,,Short stature-craniofacial anomalies-genital hypoplasia syndrome,TRUE,FALSE,Active +GARD:2610,Active,Orphanet+OMIM,OMIM:604559,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ib",[Pfhbib],,[604559],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 1B,TRUE,FALSE,Active +GARD:2612,Legacy,GARD,,,,,,,,,,,,"Heart defect, tongue hamartoma and polysyndactyly",TRUE,FALSE,Retired +GARD:2613,Active,Orphanet,ORPHA:1354,Disorder,[Malformation syndrome],Heart defects-limb shortening syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.",[212135],,,,,Cardioskeletal syndrome Kuwaiti type,TRUE,FALSE,Active +GARD:2614,Active,Orphanet,ORPHA:1342,Disorder,[Malformation syndrome],Heart-hand syndrome type 3,"[Atriodigital dysplasia type 3, Cardiomelic syndrome type 3, Heart-hand syndrome, Spanish type, Heart-limb syndrome type 3]","Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.",[140450],,,,,"Heart-hand syndrome, Spanish type",TRUE,FALSE,Active +GARD:2619,Legacy,GARD,,,,,,,,,,,,Heart tumor,TRUE,FALSE,Active +GARD:262,Active,Orphanet,ORPHA:644,Disorder,[Disease],NARP syndrome,"[Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome, Neuropathy-ataxia-retinitis pigmentosa syndrome]","A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.",[551500],,,,,Neuropathy ataxia retinitis pigmentosa syndrome,TRUE,FALSE,Active +GARD:2620,Active,Orphanet,ORPHA:2119,Disorder,[Malformation syndrome],HEC syndrome,[Hydrocephalus-endocardial fibroelastosis-cataract syndrome],"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.",[600559],,,,,HEC syndrome,TRUE,FALSE,Active +GARD:2621,Active,Orphanet,ORPHA:3377,Disorder,[Malformation syndrome],Trismus-pseudocamptodactyly syndrome,"[Distal arthrogryposis type 7, Dutch-Kentucky syndrome, Hecht syndrome, Hecht-Beals syndrome]","A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.",[158300],,,,,Trismus-pseudocamptodactyly syndrome,TRUE,FALSE,Active +GARD:2622,Active,Orphanet,ORPHA:2492,Disorder,[Malformation syndrome],FATCO syndrome,"[Fibular aplasia-tibial campomelia-oligosyndactyly syndrome, Hecht-Scott syndrome]","A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.",,,,,,"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome",TRUE,FALSE,Active +GARD:2627,Active,Orphanet+OMIM,OMIM:234820,Subtype of disorder,[Disease subtype],"Hemangiopericytoma, malignant",,"Malignant tumors of the vascular system are relatively uncommon and usually have an unfavorable, rapid clinical course. Metastases usually occur early by hematogenous routes to the lung and bone as well as to the regional lymph nodes. These vascular tumors may develop anywhere and can be difficult to diagnose, both clinically and histologically. Histogenetically they are of 2 main types: malignant hemangioendotheliomas originating from intimal endothelial cells, and malignant hemangiopericytomas arising from adventitial perivascular cells or pericytes. {1:Plukker et al. (1988)} reported malignant hemangiopericytoma in a brother and sister, aged 19 and 22 years, respectively, and in a 25-year-old fifth cousin of theirs. In 1 patient the tumor originated in the scalp, in the second in the right lower quadrant of the abdomen, and in the third in the right orbit.",[234820],[2126],[Solitary fibrous tumor/hemangiopericytoma],[15014],,Hemangiopericytoma,TRUE,FALSE,Active +GARD:2628,Legacy,GARD,,,,,,,,,,,,"Hemeralopia, congenital essential",TRUE,FALSE,Retired +GARD:2629,Legacy,GARD,,,,,,,,,,,,"Hemeralopia, familial",TRUE,FALSE,Retired +GARD:263,Legacy,GARD,,,,,,,,,,,,Narrow oral fissure short stature cone shaped epiphyses,TRUE,FALSE,Retired +GARD:2630,Active,Orphanet,ORPHA:2128,Disorder,[Morphological anomaly],Isolated hemihyperplasia,"[Hemi 3 syndrome, Hemicorporal hypertrophy, Isolated hemihypertrophy]","Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.",[235000],,,,,Hemi 3 syndrome,TRUE,FALSE,Active +GARD:2631,Legacy,GARD,,,,,,,,,,,,Hemifacial atrophy agenesis of the caudate nucleus,TRUE,FALSE,Retired +GARD:2633,Active,Orphanet,ORPHA:1241,Disorder,[Malformation syndrome],Bencze syndrome,[Hemifacial hyperplasia-strabismus syndrome],"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.",[141350],,,,,Hemifacial hyperplasia strabismus,TRUE,FALSE,Active +GARD:2636,Legacy,GARD,,,,,,,,,,,,Hemihypertrophy intestinal web corneal opacity,TRUE,FALSE,Retired +GARD:2637,Active,Orphanet,ORPHA:99802,Disorder,[Malformation syndrome],Hemimegalencephaly,[Unilateral megalencephaly],"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.",,,,,,Hemimegalencephaly,TRUE,FALSE,Active +GARD:2638,Active,Orphanet+OMIM,OMIM:141500,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 1","[Fhm, mhp1]","Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by {7:Ducros et al., 1999}).",[141500],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 1,TRUE,FALSE,Retired +GARD:264,Active,Orphanet,ORPHA:1824,Disorder,[Disease],Lowry-Wood syndrome,[Epiphyseal dysplasia-microcephaly-nystagmus syndrome],"A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.",[226960],,,,,Lowry Wood syndrome,TRUE,FALSE,Active +GARD:2640,Active,Orphanet,ORPHA:2132,Disorder,[Disease],Hemoglobin C disease,,"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).",,,,,,Hemoglobin C disease,TRUE,FALSE,Active +GARD:2641,Active,Orphanet,ORPHA:2133,Disorder,[Disease],Hemoglobin E disease,,"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.",,,,,,Hemoglobin E disease,TRUE,FALSE,Active +GARD:2642,Active,Orphanet,ORPHA:1046,Disorder,[Malformation syndrome],Lethal hemolytic anemia-genital anomalies syndrome,[Water-West syndrome],"A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.",[600461],,,,,Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities,TRUE,FALSE,Active +GARD:2648,Legacy,GARD,,,,,,,,,,,,Hennekam Van der Horst syndrome,TRUE,FALSE,Retired +GARD:2649,Legacy,GARD,,,,,,,,,,,,Heparane sulfamidase deficiency,TRUE,FALSE,Active +GARD:265,Active,Orphanet,ORPHA:3351,Disorder,[Malformation syndrome],Trichodental syndrome,[Kersey syndrome],"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.",[601453],,,,,Trichodental syndrome,TRUE,FALSE,Active +GARD:2650,Active,Orphanet,ORPHA:3325,Disorder,[Disease],Heparin-induced thrombocytopenia,"[HAT, HIT, Heparin-associated thrombocytopenia, Heparin-induced thrombocytopenia type 2]","A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.",,,,,,Heparin-induced thrombocytopenia,TRUE,FALSE,Active +GARD:2651,Active,Orphanet,ORPHA:386,Disorder,[Disease],Hepatic cystic hamartoma,"[Biliary hamartoma, MHL, Mesenchymal hamartoma of liver, VMC, Von Meyenburg complexes disease]","Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).",,,,,,Hepatic cystic hamartoma,TRUE,FALSE,Active +GARD:2653,Legacy,GARD,,,,,,,,,,,,Hepatic fibrosis renal cysts mental retardation,TRUE,FALSE,Retired +GARD:2657,Active,Orphanet,ORPHA:449,Disorder,[Disease],Hepatoblastoma,,"A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).",[114550],,,,,Hepatoblastoma,TRUE,FALSE,Active +GARD:2658,Active,Orphanet,ORPHA:882,Disorder,[Disease],Tyrosinemia type 1,"[FAH deficiency, Fumarylacetoacetase deficiency, Fumarylacetoacetate hydrolase deficiency, Hepatorenal tyrosinemia, Tyrosinemia type I]","Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.",[276700],,,,,Tyrosinemia type 1,TRUE,FALSE,Active +GARD:2659,Active,Orphanet,ORPHA:621,Disorder,[Disease],Hereditary methemoglobinemia,"[Autosomal recessive methemoglobinemia, Congenital methemoglobinemia]",A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).,"[250700, 250790, 250800]",,,,,Hereditary methemoglobinemia,TRUE,FALSE,Active +GARD:2660,Legacy,GARD,,,,,,,,,,,,Hereditary myopathy with intranuclear filamentous,TRUE,FALSE,Retired +GARD:2661,Legacy,GARD,,,,,,,,,,,,Hereditary nodular heterotopia,TRUE,FALSE,Active +GARD:2662,Legacy,GARD,,,,,,,,,,,,Hereditary primary Fanconi disease,TRUE,FALSE,Retired +GARD:2663,Legacy,GARD,,,,,,,,,,,,Hereditary resistance to anti-vitamin K,TRUE,FALSE,Active +GARD:2669,Legacy,GARD,,,,,,,,,,,,Herpes virus antenatal infection,TRUE,FALSE,Active +GARD:267,Active,Orphanet,ORPHA:2662,Disorder,[Malformation syndrome],Keipert syndrome,[Nasodigitoacoustic syndrome],"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.",[301026],,,,,Nasodigitoacoustic syndrome,TRUE,FALSE,Active +GARD:2670,Legacy,GARD,,,,,,,,,,,,Herpetic embryopathy,TRUE,FALSE,Retired +GARD:2671,Legacy,GARD,,,,,,,,,,,,Herrmann Opitz craniosynostosis,TRUE,FALSE,Active +GARD:2672,Legacy,GARD,,,,,,,,,,,,Hersh Podruch Weisskopk syndrome,TRUE,FALSE,Active +GARD:2682,Active,Orphanet,ORPHA:1808,Disorder,[Malformation syndrome],"Hidrotic ectodermal dysplasia, Christianson-Fourie type",[Christianson-Fourie syndrome],"Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.",[601375],,,,,"Ectodermal dysplasia, hidrotic, Christianson-Fourie type",TRUE,FALSE,Active +GARD:2684,Active,Orphanet,ORPHA:483,Disorder,[Disease],Congenital high-molecular-weight kininogen deficiency,,"A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.",[228960],,,,,High molecular weight kininogen deficiency,TRUE,FALSE,Active +GARD:2685,Legacy,GARD,,,,,,,,,,,,Hillig syndrome,TRUE,FALSE,Retired +GARD:2686,Legacy,GARD,,,,,,,,,,,,Hing Torack Dowston syndrome,TRUE,FALSE,Retired +GARD:269,Active,Orphanet,ORPHA:2307,Disorder,[Malformation syndrome],IVIC syndrome,"[Oculo-oto-radial syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia]","IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.",[147750],,,,,IVIC syndrome,TRUE,FALSE,Active +GARD:2690,Active,Orphanet,ORPHA:2114,Disorder,[Disease],"Hip dysplasia, Beukes type","[BFHD, Beukes familial hip dysplasia, Cilliers-Beighton syndrome, Premature degenerative osteoarthropathy of the hip]","A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.",[142669],,,,,Beukes familial hip dysplasia,TRUE,FALSE,Active +GARD:2691,Legacy,GARD,,,,,,,,,,,,Hip luxation,TRUE,FALSE,Retired +GARD:2692,Legacy,GARD,,,,,,,,,,,,Hip subluxation,TRUE,FALSE,Active +GARD:2695,Active,Orphanet,ORPHA:2151,Disorder,[Malformation syndrome],Hirschsprung disease-ganglioneuroblastoma syndrome,,"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.",,,,,,Hirschsprung disease ganglioneuroblastoma,TRUE,FALSE,Active +GARD:2696,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease polydactyly heart disease,TRUE,FALSE,Retired +GARD:2698,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease type 2,TRUE,FALSE,Active +GARD:2699,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease type 3,TRUE,FALSE,Active +GARD:27,Active,Orphanet,ORPHA:50839,Disorder,[Disease],Cat-scratch disease,[Bartonellosis due to Bartonella henselae infection],"Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria Bartonella henselae, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).",,,,,,Cat scratch disease,TRUE,FALSE,Active +GARD:270,Active,Orphanet,ORPHA:3051,Disorder,[Malformation syndrome],Nicolaides-Baraitser syndrome,[Intellectual disability-sparse hair-brachydactyly syndrome],"A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.",[601358],,,,,Nicolaides-Baraitser syndrome,TRUE,FALSE,Active +GARD:2700,Active,Orphanet,ORPHA:2150,Disorder,[Malformation syndrome],Hirschsprung disease-type D brachydactyly syndrome,,Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.,[306980],,,,,Hirschsprung disease type d brachydactyly,TRUE,FALSE,Active +GARD:2702,Legacy,GARD,,,,,,,,,,,,Hirschsprung microcephaly cleft palate,TRUE,FALSE,Retired +GARD:2703,Legacy,GARD,,,,,,,,,,,,Hirschsprung nail hypoplasia dysmorphism,TRUE,FALSE,Active +GARD:2705,Legacy,GARD,,,,,,,,,,,,Hirsutism skeletal dysplasia mental retardation,TRUE,FALSE,Retired +GARD:2706,Active,Orphanet,ORPHA:3283,Disorder,[Disease],His bundle tachycardia,"[JET, Junctional ectopic tachycardia]",His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.,,,,,,His bundle tachycardia,TRUE,FALSE,Active +GARD:2708,Active,Orphanet,ORPHA:2158,Disorder,[Disease],Histidinuria-renal tubular defect syndrome,,"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.",[235830],,,,,Histidinuria renal tubular defect,TRUE,FALSE,Active +GARD:2709,Legacy,GARD,,,,,,,,,,,,Hittner Hirsch Kreh syndrome,TRUE,FALSE,Retired +GARD:271,Legacy,GARD,,,,,,,,,,,,Vagneur Triolle Ripert syndrome,TRUE,FALSE,Active +GARD:2710,Legacy,GARD,,,,,,,,,,,,Hm syndrome,TRUE,FALSE,Retired +GARD:2712,Active,Orphanet,ORPHA:35701,Disorder,[Disease],3-hydroxy-3-methylglutaryl-CoA synthase deficiency,[HMG-CoA synthase deficiency],"3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.",[605911],,,,,HMG CoA synthetase deficiency,TRUE,FALSE,Active +GARD:2714,Active,Orphanet,ORPHA:98293,Group of disorders,[Clinical group],Hodgkin lymphoma,,Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.,,,,,,Hodgkin lymphoma,TRUE,FALSE,Active +GARD:2717,Legacy,GARD,,,,,,,,,,,,Holmes Borden syndrome,TRUE,FALSE,Retired +GARD:272,Active,Orphanet,ORPHA:3412,Disorder,[Malformation syndrome],VACTERL with hydrocephalus,[Sujansky-Leonard syndrome],"VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.","[276950, 314390]",,,,,VACTERL hydrocephaly,TRUE,FALSE,Active +GARD:2720,Legacy,GARD,,,,,,,,,,,,Holoacardius amorphus,TRUE,FALSE,Active +GARD:2721,Active,Orphanet,ORPHA:79242,Disorder,[Disease],Holocarboxylase synthetase deficiency,"[Early-onset multiple carboxylase deficiency, Neonatal multiple carboxylase deficiency]","A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.",[253270],,,,,Holocarboxylase synthetase deficiency,TRUE,FALSE,Active +GARD:2722,Active,Orphanet,ORPHA:2165,Disorder,[Malformation syndrome],Holoprosencephaly-caudal dysgenesis syndrome,,"Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).",,,,,,Holoprosencephaly caudal dysgenesis,TRUE,FALSE,Retired +GARD:2725,Active,Orphanet,ORPHA:2117,Disorder,[Malformation syndrome],Hartsfield syndrome,[Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.",[615465],,,,,Holoprosencephaly ectrodactyly cleft lip palate,TRUE,FALSE,Active +GARD:2727,Active,Orphanet,ORPHA:3186,Disorder,[Malformation syndrome],Holoprosencephaly-radial heart renal anomalies syndrome,[Steinfeld syndrome],"A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.",[184705],,,,,Steinfeld syndrome,TRUE,FALSE,Active +GARD:2728,Active,Orphanet,ORPHA:2167,Disorder,[Malformation syndrome],Holzgreve syndrome,"[Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome, Holzgreve-Wagner-Rehder syndrome]","Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.",[236110],,,,,Holzgreve syndrome,TRUE,FALSE,Active +GARD:273,Active,Orphanet,ORPHA:2834,Subtype of disorder,[Clinical subtype],Wrinkly skin syndrome,"[WSS, Wrinkled skin syndrome]","Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).",[278250],,,,,Wrinkly skin syndrome,TRUE,FALSE,Active +GARD:2730,Legacy,GARD,,,,,,,,,,,,Homocarnosinosis,TRUE,FALSE,Active +GARD:2732,Legacy,GARD,,,,,,,,,,,,Homocystinuria due to defect in methylation cbl e,TRUE,FALSE,Active +GARD:2733,Legacy,GARD,,,,,,,,,,,,Homocystinuria due to defect in methylation cbl g,TRUE,FALSE,Active +GARD:2734,Active,Orphanet,ORPHA:395,Disorder,[Disease],Homocystinuria due to methylene tetrahydrofolate reductase deficiency,"[MTHFR deficiency, Methylene tetrahydrofolate reductase deficiency]",Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.,[236250],,,,,Homocystinuria due to MTHFR deficiency,TRUE,FALSE,Active +GARD:2735,Legacy,GARD,,,,,,,,,,,,Hoon Hall syndrome,TRUE,FALSE,Retired +GARD:2736,Legacy,GARD,,,,,,,,,,,,Hordnes Engebretsen Knudtson syndrome,TRUE,FALSE,Active +GARD:2737,Legacy,GARD,,,,,,,,,,,,Horn Kolb syndrome,TRUE,FALSE,Active +GARD:2739,Legacy,GARD,,,,,,,,,,,,Horseshoe kidney,FALSE,FALSE,Active +GARD:274,Active,Orphanet,ORPHA:2571,Disorder,[Disease],X-linked immunoneurologic disorder,[Woods-Black-Norbury syndrome],"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.",[300076],,,,,Woods Black Norbury syndrome,TRUE,FALSE,Active +GARD:2742,Active,Orphanet,ORPHA:1352,Disorder,[Malformation syndrome],Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,[Houlston-Ironton-Temple syndrome],"A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.",[600123],,,,,Houlston Ironton Temple syndrome,TRUE,FALSE,Retired +GARD:2748,Active,Orphanet,ORPHA:3265,Disorder,[Morphological anomaly],Humero-radial synostosis,[Humero-radial fusion],"Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.","[236400, 143050]",,,,,Humeroradial synostosis,TRUE,FALSE,Active +GARD:2749,Active,Orphanet,ORPHA:3266,Disorder,[Morphological anomaly],Humero-radio-ulnar synostosis,[Humero-radio-ulnar fusion],"Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.",,,,,,Humeroradioulnar synostosis,TRUE,FALSE,Active +GARD:275,Legacy,GARD,,,,,,,,,,,,Serpentine fibula polycystic kidney syndrome,TRUE,FALSE,Retired +GARD:2750,Active,Orphanet,ORPHA:3383,Disorder,[Malformation syndrome],Humerus trochlea aplasia,,"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.",[191000],,,,,Trochlea of the humerus aplasia of,TRUE,FALSE,Active +GARD:2751,Legacy,GARD,,,,,,,,,,,,Hunter Carpenter Macdonald syndrome,TRUE,FALSE,Retired +GARD:2753,Legacy,GARD,,,,,,,,,,,,Hunter Macpherson syndrome,TRUE,FALSE,Retired +GARD:2754,Active,Orphanet,ORPHA:97340,Disorder,[Malformation syndrome],Hunter-McAlpine syndrome,,"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).",[601379],,,,,Hunter-McAlpine syndrome,TRUE,FALSE,Active +GARD:2755,Legacy,GARD,,,,,,,,,,,,Hunter Mcdonald syndrome,TRUE,FALSE,Active +GARD:2756,Active,Orphanet,ORPHA:3365,Disorder,[Malformation syndrome],Trigonocephaly-broad thumbs syndrome,[Hunter-Rudd-Hoffmann syndrome],"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.",,,,,,Hunter Rudd Hoffmann syndrome,TRUE,FALSE,Retired +GARD:2759,Legacy,GARD,,,,,,,,,,,,Hurst Hallam Hockey syndrome,TRUE,FALSE,Retired +GARD:276,Active,Orphanet+OMIM,OMIM:614841,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 12 with or without anosmia,"[Eunuchoidism, familial hypogonadotropic, gonadotropin deficiency, familial idiopathic]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {10:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614841],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,Eunuchoidism familial hypogonadotropic,TRUE,FALSE,Active +GARD:2762,Legacy,GARD,,,,,,,,,,,,Hyalinosis systemic short stature,TRUE,FALSE,Retired +GARD:2764,Active,Orphanet,ORPHA:400,Disorder,[Disease],Cystic echinococcosis,"[Hydatid disease, Hydatidosis]","Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.",,,,,,Hydatidosis,TRUE,FALSE,Active +GARD:2765,Active,Orphanet,ORPHA:2898,Disorder,[Malformation syndrome],X-linked intellectual disability-plagiocephaly syndrome,[Hyde Forster-McCarthy-Berry syndrome],"A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.",[300064],,,,,X-linked intellectual disability-plagiocephaly syndrome,TRUE,FALSE,Active +GARD:2767,Legacy,GARD,,,,,,,,,,,,Hydrocephalus autosomal recessive,TRUE,FALSE,Active +GARD:277,Active,Orphanet,ORPHA:2892,Disorder,[Malformation syndrome],Pilodental dysplasia-refractive errors syndrome,"[Euhidrotic ectodermal dysplasia, Kopysc-Barczyk-Krol syndrome]","Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.",[262020],,,,,Pilodental dysplasia with refractive errors,TRUE,FALSE,Active +GARD:2772,Legacy,GARD,,,,,,,,,,,,Hydrocephalus craniosynostosis bifid nose,TRUE,FALSE,Retired +GARD:2774,Legacy,GARD,,,,,,,,,,,,Hydrocephalus growth retardation skeletal anomalies,TRUE,FALSE,Retired +GARD:2775,Active,Orphanet,ORPHA:2183,Disorder,[Malformation syndrome],Hydrocephalus-obesity-hypogonadism syndrome,[Sengers-Hamel-Otten syndrome],"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.",,,,,,Hydrocephalus obesity hypogonadism,TRUE,FALSE,Active +GARD:2776,Legacy,GARD,,,,,,,,,,,,Hydrocephalus skeletal anomalies,TRUE,FALSE,Active +GARD:2777,Legacy,GARD,,,,,,,,,,,,Hydrocephaly corpus callosum agenesis diaphragmatic hernia,TRUE,FALSE,Retired +GARD:2781,Legacy,GARD,,,,,,,,,,,,Hydronephrosis peculiar facial expression,TRUE,FALSE,Retired +GARD:2782,Legacy,GARD,,,,,,,,,,,,Hydrops ectrodactyly syndactyly,TRUE,FALSE,Retired +GARD:2783,Active,Orphanet,ORPHA:1041,Disorder,[Malformation syndrome],Hydrops fetalis,"[Fetal anasarca, Fetal hydrops, Generalized fetal edema, HF]","Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).",[236750],,,,,Hydrops fetalis,TRUE,FALSE,Active +GARD:2784,Legacy,GARD,,,,,,,,,,,,Hydrops fetalis anemia immune disorder absent thumb,TRUE,FALSE,Retired +GARD:2786,Legacy,GARD,,,,,,,,,,,,Hygroma cervical,TRUE,FALSE,Active +GARD:2787,Active,Orphanet,ORPHA:401,Disorder,[Disease],Hymenolepiasis,,"Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.",,,,,,Hymenolepiasis,TRUE,FALSE,Active +GARD:2788,Active,Orphanet,ORPHA:343,Subtype of disorder,[Clinical subtype],Hyperimmunoglobulinemia D with periodic fever,"[HIDS, Hyper-IgD syndrome, Hyperimmunoglobinemia D with recurrent fever, Hyperimmunoglobulinemia D syndrome, Partial mevalonate kinase deficiency]","A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.",[260920],,,,,Hyper-IgD syndrome,TRUE,FALSE,Active +GARD:2789,Active,Orphanet,ORPHA:404,Disorder,[Disease],Familial hyperaldosteronism type II,"[FH-II, FH2, Familial adrenal adenoma, Familial hyperaldosteronism type 2]","A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.",[605635],,,,,Familial hyperaldosteronism type 2,TRUE,FALSE,Active +GARD:279,Legacy,GARD,,,,,,,,,,,,Hemorrhagic proctocolitis,TRUE,FALSE,Active +GARD:2790,Active,Orphanet,ORPHA:403,Disorder,[Disease],Familial hyperaldosteronism type I,"[Dexamethasone-sensitive hypertension, FH-I, FH1, Familial hyperaldosteronism type 1, GRA, Glucocorticoid-remediable aldosteronism, Glucocorticoid-sensitive hypertension]","A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.",[103900],,,,,Glucocorticoid-remediable aldosteronism,TRUE,FALSE,Active +GARD:2791,Active,Orphanet,ORPHA:2312,Disorder,[Disease],Transient familial neonatal hyperbilirubinemia,[Lucey-Driscoll syndrome],"A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.",[237900],,,,,Hyperbilirubinemia transient familial neonatal,TRUE,FALSE,Active +GARD:2793,Active,Orphanet,ORPHA:234,Disorder,[Disease],Dubin-Johnson syndrome,"[Dubin-Sprinz disease, Hyperbilirubinemia type 2, Sprinz-Nelson syndrome]","Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.",[237500],,,,,Hyperbilirubinemia type 2,TRUE,FALSE,Active +GARD:2796,Active,Orphanet,ORPHA:93372,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 1,[FHH type 1],,[145980],,,,,Familial hypocalciuric hypercalcemia type 1,TRUE,FALSE,Active +GARD:28,Active,Orphanet,ORPHA:1388,Disorder,[Malformation syndrome],Catel-Manzke syndrome,"[Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome, Index finger anomaly-Pierre Robin syndrome, Micrognathia digital syndrome, Palatodigital syndrome, Catel-Manzke type, Pierre Robin sequence-hyperphalangy-clinodactyly syndrome, Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome]","Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.",[616145],,,,,Catel Manzke syndrome,TRUE,FALSE,Active +GARD:280,Active,Orphanet,ORPHA:1809,Disorder,[Malformation syndrome],"Hidrotic ectodermal dysplasia, Halal type","[Halal-Setton-Wang syndrome, Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome]","Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.",,,,,,Halal Setton Wang syndrome,TRUE,FALSE,Active +GARD:2800,Legacy,GARD,,,,,,,,,,,,Hypercalcinuria macular coloboma,TRUE,FALSE,Active +GARD:2804,Active,Orphanet,ORPHA:168956,Group of disorders,[Clinical group],Hypereosinophilic syndrome,[HES],"Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.",,,,,,Hypereosinophilic syndrome,TRUE,FALSE,Active +GARD:2806,Active,Orphanet,ORPHA:163,Disorder,[Disease],Hereditary hyperferritinemia-cataract syndrome,"[Bonneau-Beaumont syndrome, HHCS, Hereditary hyperferritinemia with congenital cataracts]",Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.,[600886],,,,,Hyperferritinemia cataract syndrome,TRUE,FALSE,Active +GARD:2807,Active,Orphanet,ORPHA:408,Disorder,[Disease],Isolated glycerol kinase deficiency,[Hyperglycerolemia],"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).",[307030],,,,,Hyperglycerolemia,TRUE,FALSE,Active +GARD:2808,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic",FALSE,FALSE,Retired +GARD:2809,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic type 1",FALSE,FALSE,Retired +GARD:281,Legacy,GARD,,,,,,,,,,,,Ramer Ladda syndrome,TRUE,FALSE,Retired +GARD:2810,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic type 2",FALSE,FALSE,Retired +GARD:2811,Legacy,GARD,,,,,,,,,,,,"Hypergonadotropic ovarian failure, familial or sporadic",TRUE,FALSE,Active +GARD:2816,Active,Orphanet,ORPHA:217390,Disorder,[Disease],Combined immunodeficiency due to DOCK8 deficiency,"[CID due to DOCK8 deficiency, Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, DOCK8 immunodeficiency syndrome]","Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).",[243700],,,,,Autosomal recessive hyper IgE syndrome,TRUE,FALSE,Active +GARD:2818,Active,Orphanet,ORPHA:79299,Disorder,[Disease],Hyperinsulinism due to glucokinase deficiency,[Hyperinsulinemic hypoglycemia due to glucokinase deficiency],"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.",[602485],,,,,Hyperinsulinism due to glucokinase deficiency,TRUE,FALSE,Active +GARD:2819,Legacy,GARD,,,,,,,,,,,,Hyperinsulinism due to glutamodehydrogenase deficiency,TRUE,FALSE,Active +GARD:282,Active,Orphanet,ORPHA:1832,Disorder,[Malformation syndrome],Lethal osteosclerotic bone dysplasia,[Raine syndrome],"A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.",[259775],,,,,Raine syndrome,TRUE,FALSE,Active +GARD:2821,Legacy,GARD,,,,,,,,,,,,"Hyperinsulinism, diffuse",TRUE,FALSE,Active +GARD:2822,Legacy,GARD,,,,,,,,,,,,"Hyperinsulinism, focal",TRUE,FALSE,Retired +GARD:2824,Active,Orphanet,ORPHA:409,Disorder,[Disease],Hyperkeratosis lenticularis perstans,[Flegel disease],"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.",[144150],,,,,Hyperkeratosis lenticularis perstans,TRUE,FALSE,Active +GARD:2825,Legacy,GARD,,,,,,,,,,,,Hyperkeratosis palmoplantar localized acanthokeratolytic,TRUE,FALSE,Retired +GARD:2826,Active,Orphanet,ORPHA:2199,Disorder,[Disease],Epidermolytic palmoplantar keratoderma,"[Diffuse erythrodermic palmoplantar keratoderma, Voerner type, Diffuse erythrodermic palmoplantar keratoderma, Vörner type, EPPK, Epidermolytic palmoplantar keratoderma of Voerner, Epidermolytic palmoplantar keratoderma of Vörner]","A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.",[144200],,,,,Epidermolytic palmoplantar keratoderma,TRUE,FALSE,Active +GARD:2828,Active,Orphanet,ORPHA:2203,Disorder,[Disease],Hyperlysinemia,"[Hyperlysinemia type I, Lysine alpha-ketoglutarate reductase deficiency]",Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.,"[238700, 238710]",,,,,Hyperlysinemia,TRUE,FALSE,Active +GARD:2830,Active,Orphanet,ORPHA:415,Disorder,[Disease],Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,"[HHH syndrome, ORNT1 deficiency, Ornithine carrier deficiency, Ornithine translocase deficiency, Triple H syndrome]","A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.",[238970],,,,,Ornithine translocase deficiency syndrome,TRUE,FALSE,Active +GARD:2831,Active,Orphanet,ORPHA:2801,Disorder,[Malformation syndrome],Juvenile Paget disease,"[Familial osteoectasia, Hereditary hyperphosphatasia, Hyperostosis corticalis deformans juvenilis, JPG]","Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.",[239000],,,,,Juvenile Paget disease,TRUE,FALSE,Active +GARD:2832,Legacy,GARD,,,,,,,,,,,,Hyperostosis cortical infantile,TRUE,FALSE,Retired +GARD:2833,Active,Orphanet,ORPHA:3416,Disorder,[Malformation syndrome],Hyperostosis corticalis generalisata,"[Hyperphosphatasemia tarda, Van Buchem disease]","Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.",[239100],,,,,Hyperostosis corticalis generalisata,TRUE,FALSE,Active +GARD:2835,Active,Orphanet,ORPHA:93598,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 1,"[Glycolic aciduria, Peroxisomal alanine-glyoxylate aminotransferase deficiency]",,[259900],,,,,Primary hyperoxaluria type 1,TRUE,FALSE,Active +GARD:2836,Active,Orphanet,ORPHA:93599,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 2,"[D-glycerate dehydrogenase deficiency, L-glyceric aciduria]",,[260000],,,,,Primary hyperoxaluria type 2,TRUE,FALSE,Active +GARD:2837,Active,Orphanet,ORPHA:2207,Group of disorders,[Clinical group],Familial primary hyperparathyroidism,,,,,,,,Familial isolated hyperparathyroidism,TRUE,FALSE,Active +GARD:2838,Active,Orphanet,ORPHA:417,Disorder,[Disease],Neonatal severe primary hyperparathyroidism,[NSHPT],Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.,"[618188, 239200]",,,,,Neonatal severe hyperparathyroidism,TRUE,FALSE,Active +GARD:284,Active,Orphanet,ORPHA:86915,Disorder,[Malformation syndrome],Lymphedema-atrial septal defects-facial changes syndrome,"[Irons-Bhan syndrome, Irons-Bianchi syndrome]","Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.",[601927],,,,,Irons Bhan syndrome,TRUE,FALSE,Active +GARD:2840,Legacy,GARD,,,,,,,,,,,,Hyperphenilalaninemia due to pterin-4-alpha-carbin,TRUE,FALSE,Retired +GARD:2843,Active,Orphanet,ORPHA:1578,Subtype of disorder,[Clinical subtype],Pterin-4 alpha-carbinolamine dehydratase deficiency,"[Hyperphenylalaninemia due to dehydratase deficiency, Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency, Hyperphenylalaninemia with primapterinuria]","A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.",[264070],,,,,Hyperphenylalaninemia due to dehydratase deficiency,TRUE,FALSE,Active +GARD:2844,Active,Orphanet,ORPHA:2102,Subtype of disorder,[Clinical subtype],GTP cyclohydrolase I deficiency,"[GTPCH deficiency, Hyperphenylalaninemia due to GTP cyclohydrolase deficiency]","GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.",[233910],,,,,GTP cyclohydrolase I deficiency,TRUE,FALSE,Active +GARD:2846,Legacy,GARD,,,,,,,,,,,,Hyperpipecolatemia,TRUE,FALSE,Retired +GARD:2847,Active,Orphanet,ORPHA:419,Disorder,[Disease],Hyperprolinemia type 1,[Proline oxidase deficiency],"A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).",[239500],,,,,Hyperprolinemia,TRUE,FALSE,Active +GARD:2848,Legacy,GARD,,,,,,,,,,,,Hypertelorism and tetralogy of Fallot,TRUE,FALSE,Active +GARD:2854,Legacy,GARD,,,,,,,,,,,,Hypertensive hypokalemia familial,TRUE,FALSE,Retired +GARD:2856,Active,Orphanet,ORPHA:2216,Disorder,[Malformation syndrome],Maternal hyperthermia-induced birth defects,,"A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.",,,,,,Hyperthermia induced defects,TRUE,FALSE,Active +GARD:2858,Active,Orphanet,ORPHA:424,Disorder,[Disease],Familial hyperthyroidism due to mutations in TSH receptor,"[Familial non-immune hyperthyroidism, Resistance to thyroid stimulating hormone]","A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.",[609152],,,,,Familial hyperthyroidism due to mutations in TSH receptor,TRUE,FALSE,Active +GARD:286,Legacy,GARD,,,,,,,,,,,,Imaizumi Kuroki syndrome,TRUE,FALSE,Retired +GARD:2863,Active,Orphanet,ORPHA:79495,Subtype of disorder,[Clinical subtype],X-linked congenital generalized hypertrichosis,"[Congenital generalized hypertrichosis, Macias-Flores type, Macias Flores-Garcia Cruz-Rivera syndrome]","X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.",[307150],,,,,X-linked congenital generalized hypertrichosis,TRUE,FALSE,Active +GARD:2864,Active,Orphanet,ORPHA:2221,Disorder,[Disease],Acquired hypertrichosis lanuginosa,,"A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.",,,,,,"Hypertrichosis lanuginosa, acquired",TRUE,FALSE,Active +GARD:2865,Active,Orphanet,ORPHA:2222,Disorder,[Disease],Hypertrichosis lanuginosa congenita,[Hypertrichosis universalis],"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.","[145700, 145701, 307150]",,,,,Hypertrichosis lanuginosa congenita,TRUE,FALSE,Active +GARD:2868,Legacy,GARD,,,,,,,,,,,,Hypertrophic hemangiectasia,TRUE,FALSE,Retired +GARD:287,Active,Orphanet,ORPHA:2211,Disorder,[Malformation syndrome],Hypertelorism-hypospadias-polysyndactyly syndrome,"[Acrofrontofacionasal dysostosis type 2, Acrofrontofacionasal syndrome type 2, Naguib-Richieri-Costa syndrome]",Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.,[239710],,,,,Naguib-Richieri-Costa syndrome,TRUE,FALSE,Active +GARD:2871,Active,Orphanet,ORPHA:2224,Disorder,[Disease],Hypertryptophanemia,,"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.",[600627],,,,,Hypertryptophanemia,TRUE,FALSE,Active +GARD:2872,Active,Orphanet,ORPHA:425,Disorder,[Disease],Apolipoprotein A-I deficiency,"[ApoA-I deficiency, Familial apoA-I deficiency, Familial hypoalphalipoproteinemia]","A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).","[604091, 618463]",,,,,Familial HDL deficiency,TRUE,FALSE,Active +GARD:2874,Legacy,GARD,,,,,,,,,,,,Hypoaldosteronism,TRUE,FALSE,Active +GARD:2875,Legacy,GARD,,,,,,,,,,,,Hypobetalipoproteinaemia ataxia hearing loss,TRUE,FALSE,Retired +GARD:2876,Active,Orphanet+OMIM,OMIM:615558,Subtype of disorder,[Disease subtype],"Hypobetalipoproteinemia, familial, 1","[hypobetalipoproteinemia, normotriglyceridemic, acanthocytosis with hypobetalipoproteinemia, Hypobetalipoproteinemia, familial]","Hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL; {200100}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FHBL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by {15:Lee and Hegele, 2014}).\n\n<Subhead> Genetic Heterogeneity of Familial Hypobetalipoproteinemia\n\nFamilial hypobetalipoproteinemia-2 (FHBL2; {605019}) is caused by mutation in the ANGPTL3 gene ({604774}) on chromosome 1p31.",[615558],[14],[Abetalipoproteinemia],[5],,Familial hypobetalipoproteinemia,TRUE,FALSE,Active +GARD:2877,Active,Orphanet,ORPHA:428,Subtype of disorder,[Clinical subtype],Autosomal dominant hypocalcemia,[AD hypocalcemia],A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.,"[615361, 601198]",,,,,"Hypocalcemia, autosomal dominant",TRUE,FALSE,Active +GARD:2878,Active,Orphanet,ORPHA:101050,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 3,[FHH type 3],,[600740],,,,,Familial hypocalciuric hypercalcemia type 3,TRUE,FALSE,Active +GARD:288,Active,Orphanet,ORPHA:2108,Disorder,[Malformation syndrome],Hallermann-Streiff syndrome,"[François dyscephalic syndrome, Oculomandibulofacial syndrome]","Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.",[234100],,,,,Hallermann-Streiff syndrome,TRUE,FALSE,Active +GARD:2882,Active,Orphanet,ORPHA:932,Disorder,[Disease],Achondrogenesis,,"A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.","[200610, 200600, 600972]",,,,,Achondrogenesis,TRUE,FALSE,Active +GARD:2883,Legacy,GARD,,,,,,,,,,,,Hypodermyasis,TRUE,FALSE,Active +GARD:2886,Legacy,GARD,,,,,,,,,,,,Hypodontia of incisors and premolars,TRUE,FALSE,Retired +GARD:2887,Active,Orphanet,ORPHA:101041,Subtype of disorder,[Clinical subtype],Familial hypofibrinogenemia,,Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.,[202400],,,,,"Hypofibrinogenemia, familial",TRUE,FALSE,Active +GARD:2889,Legacy,GARD,,,,,,,,,,,,Hypoglycemia with deficiency of glycogen synthetase in the liver,TRUE,FALSE,Active +GARD:2890,Legacy,GARD,,,,,,,,,,,,Hypogonadism cardiomyopathy,TRUE,FALSE,Retired +GARD:2893,Legacy,GARD,,,,,,,,,,,,Hypogonadism male mental retardation skeletal anomaly,TRUE,FALSE,Retired +GARD:2894,Legacy,GARD,,,,,,,,,,,,Hypogonadism mitral valve prolapse mental retardation,TRUE,FALSE,Retired +GARD:2895,Legacy,GARD,,,,,,,,,,,,Hypogonadism primary partial alopecia,TRUE,FALSE,Active +GARD:2897,Active,Orphanet+OMIM,OMIM:146110,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 7 with or without anosmia,"[Hypogonadism, isolated hypogonadotropic, idiopathic hypogonadotropic hypogonadism]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {17:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[146110],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,"Hypogonadism, isolated, hypogonadotropic",TRUE,FALSE,Active +GARD:2899,Legacy,GARD,,,,,,,,,,,,"Hypogonadotropic hypogonadism without anosmia, X-linked",TRUE,FALSE,Retired +GARD:29,Active,Orphanet,ORPHA:138,Disorder,[Malformation syndrome],CHARGE syndrome,"[CHARGE association, Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, Hall-Hittner syndrome]","CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).",[214800],,,,,CHARGE syndrome,TRUE,FALSE,Active +GARD:290,Active,Orphanet,ORPHA:2109,Disorder,[Malformation syndrome],Hallermann-Streiff-like syndrome,"[Dennis-Fairhurst-Moore syndrome, Hallermann-Streiff-François syndrome, severe form, Severe Hallermann-Streiff-François syndrome]","A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.",,,,,,Dennis Fairhurst Moore syndrome,TRUE,FALSE,Retired +GARD:2905,Active,Orphanet,ORPHA:154,Disorder,[Disease],Familial isolated dilated cardiomyopathy,[Familial or idiopathic dilated cardiomyopathy],"A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.","[615396, 604145, 605582, 613881, 611615, 613424, 613286, 613642, 115200, 613694, 604765, 608569, 604288, 607482, 615184, 615235, 601493, 609915, 600884, 601494, 612877, 609909, 302045, 614672, 611407, 611878, 615916, 611879, 613252, 613426, 611880, 613172, 615248, 613122, 618189, 615373, 606685, 612158, 613697, 601154]",,,,,Familial dilated cardiomyopathy,TRUE,FALSE,Active +GARD:2906,Active,Orphanet,ORPHA:31043,Subtype of disorder,[Clinical subtype],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,"[FHHNC without severe ocular involvement, HOMG3, Renal hypomagnesemia type 3]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.",[248250],,,,,Familial primary hypomagnesemia,TRUE,FALSE,Active +GARD:2907,Active,Orphanet,ORPHA:1790,Disorder,[Malformation syndrome],Hypomandibular faciocranial dysostosis,,"Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.",[241310],,,,,Hypomandibular faciocranial dysostosis,TRUE,FALSE,Active +GARD:2908,Active,Orphanet,ORPHA:2491,Disorder,[Malformation syndrome],Müllerian duct anomalies-limb anomalies syndrome,,"Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.",[146160],,,,,Hypomelia mullerian duct anomalies,TRUE,FALSE,Active +GARD:291,Legacy,GARD,,,,,,,,,,,,Spasticity multiple exostoses,TRUE,FALSE,Active +GARD:2910,Active,Orphanet,ORPHA:2238,Disorder,[Disease],Familial isolated hypoparathyroidism,,"Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.","[615361, 146200, 601198, 307700]",,,,,Familial isolated hypoparathyroidism,TRUE,FALSE,Active +GARD:2911,Active,Orphanet,ORPHA:2237,Disorder,[Malformation syndrome],Hypoparathyroidism-sensorineural deafness-renal disease syndrome,"[Barakat syndrome, HDR syndrome, Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome]","Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).",[146255],,,,,Barakat syndrome,TRUE,FALSE,Active +GARD:2913,Legacy,GARD,,,,,,,,,,,,Hypoparathyroidism short stature mental retardation,TRUE,FALSE,Retired +GARD:2914,Active,Orphanet+OMIM,OMIM:307700,Subtype of disorder,[Clinical subtype],"Hypoparathyroidism, x-linked",,,[307700],[2239],[Familial isolated hypoparathyroidism due to agenesis of parathyroid gland],[16589],,Hypoparathyroidism X-linked,TRUE,FALSE,Active +GARD:2917,Legacy,GARD,,,,,,,,,,,,Hypopituitarism,TRUE,FALSE,Active +GARD:2918,Legacy,GARD,,,,,,,,,,,,Hypopituitarism micropenis cleft lip palate,TRUE,FALSE,Retired +GARD:292,Active,Orphanet,ORPHA:2269,Disorder,[Disease],Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,[Jagell-Holmgren-Hofer syndrome],"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.",[242510],,,,,Ichthyosis alopecia eclabion ectropion intellectual disability,TRUE,FALSE,Active +GARD:2920,Legacy,GARD,,,,,,,,,,,,Hypopituitarism postaxial polydactyly,TRUE,FALSE,Retired +GARD:2921,Legacy,GARD,,,,,,,,,,,,Hypoplasia hepatic ductular,TRUE,FALSE,Retired +GARD:2922,Active,Orphanet,ORPHA:98723,Group of disorders,[Clinical group],Hypoplastic right heart syndrome,,"A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.",,,,,,Hypoplastic right heart syndrome,TRUE,FALSE,Active +GARD:2923,Legacy,GARD,,,,,,,,,,,,Hypoplastic thumb mullerian aplasia,TRUE,FALSE,Retired +GARD:2924,Legacy,GARD,,,,,,,,,,,,Hypoplastic thumbs hydranencephaly,TRUE,FALSE,Retired +GARD:2926,Active,Orphanet,ORPHA:325,Disorder,[Disease],Congenital factor II deficiency,"[Dysprothrombinemia, Hypoprothrombinemia, Prothrombin deficiency]","A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.",[613679],,,,,Prothrombin deficiency,TRUE,FALSE,Active +GARD:2927,Legacy,GARD,,,,,,,,,,,,Hyposmia nasal hypoplasia hypogonadism,TRUE,FALSE,Retired +GARD:2928,Active,Orphanet,ORPHA:2261,Disorder,[Malformation syndrome],"Hypospadias-intellectual disability, Goldblatt type syndrome",[Goldblatt-Wallis syndrome],"A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.",[241760],,,,,"Hypospadias-intellectual disability, Goldblatt type syndrome",TRUE,FALSE,Active +GARD:2929,Legacy,GARD,,,,,,,,,,,,Hypospadias familial,TRUE,FALSE,Active +GARD:293,Legacy,GARD,,,,,,,,,,,,Rodrigues blindness,TRUE,FALSE,Active +GARD:2930,Active,Orphanet,ORPHA:2353,Disorder,[Malformation syndrome],Schilbach-Rott syndrome,"[BRSS, Hypotelorism-cleft palate-hypospadias syndrome]","Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.",[164220],,,,,Hypotelorism cleft palate hypospadias,TRUE,FALSE,Active +GARD:2932,Legacy,GARD,,,,,,,,,,,,Hypothalamic dysfunction,TRUE,FALSE,Retired +GARD:2934,Legacy,GARD,,,,,,,,,,,,Hypothalamic hamartomas,TRUE,FALSE,Active +GARD:2938,Legacy,GARD,,,,,,,,,,,,Hypothyroidism due to iodide transport defect,TRUE,FALSE,Active +GARD:2939,Legacy,GARD,,,,,,,,,,,,Hypothyroidism postaxial polydactyly mental retardation,TRUE,FALSE,Retired +GARD:294,Legacy,GARD,,,,,,,,,,,,Enchondromatosis dwarfism deafness,TRUE,FALSE,Active +GARD:2940,Legacy,GARD,,,,,,,,,,,,Hypotonic sclerotic muscular dystrophy,TRUE,FALSE,Retired +GARD:2943,Active,Orphanet,ORPHA:206428,Group of disorders,[Clinical group],Hypoxanthine-guanine phosphoribosyltransferase deficiency,"[HPRT deficiency, HPRT1 deficiency, Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency]",Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.,,,,,,Hypoxanthine guanine phosphoribosyltransferase deficiency,TRUE,FALSE,Active +GARD:2944,Legacy,GARD,,,,,,,,,,,,IBIDS syndrome,TRUE,FALSE,Retired +GARD:2945,Active,Orphanet,ORPHA:2268,Disorder,[Malformation syndrome],ICF syndrome,[Immunodeficiency-centromeric instability-facial anomalies syndrome],"The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.","[616910, 614069, 242860, 616911]",,,,,ICF syndrome,TRUE,FALSE,Active +GARD:2946,Active,Orphanet+OMIM,OMIM:242150,Subtype of disorder,[Disease subtype],"Keratitis-ichthyosis-deafness syndrome, autosomal recessive","[kid syndrome, autosomal recessive, desmons syndrome, Ichthyosiform erythroderma, corneal involvement, and deafness]","Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients ({1:Alsaif et al., 2019}; {2:Boyden et al., 2019}).\n\nAn autosomal dominant form of KID syndrome (KIDAD; {148210}) is caused by mutation in the GJB2 gene ({121011}) on chromosome 13q12.",[242150],[477],[KID syndrome],[3113],,"Ichthyosiform erythroderma, corneal involvement, deafness",TRUE,FALSE,Active +GARD:2947,Legacy,GARD,,,,,,,,,,,,Ichthyosis cheek eyebrow syndrome,TRUE,FALSE,Active +GARD:2948,Legacy,GARD,,,,,,,,,,,,Ichthyosis congenita biliary atresia,TRUE,FALSE,Active +GARD:2949,Legacy,GARD,,,,,,,,,,,,Ichthyosis deafness mental retardation skeletal anomaly,TRUE,FALSE,Retired +GARD:295,Legacy,GARD,,,,,,,,,,,,Nevo syndrome,TRUE,FALSE,Retired +GARD:2952,Active,Orphanet,ORPHA:2273,Disorder,[Disease],Ichthyosis follicularis-alopecia-photophobia syndrome,"[IFAP syndrome, Ichthyosis follicularis-atrichia-photophobia syndrome]","Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","[619016, 308205]",,,,,Ichthyosis follicularis atrichia photophobia syndrome,TRUE,FALSE,Active +GARD:2954,Active,Orphanet,ORPHA:79503,Disorder,[Disease],Ichthyosis hystrix of Curth-Macklin,"[Ichthyosis hystrix, Curth-Macklin type]","Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).",[146590],,,,,"Ichthyosis hystrix, Curth Macklin type",TRUE,FALSE,Active +GARD:2957,Legacy,GARD,,,,,,,,,,,,Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin,TRUE,FALSE,Retired +GARD:2958,Legacy,GARD,,,,,,,,,,,,Ichthyosis mental retardation dwarfism renal impairment,TRUE,FALSE,Retired +GARD:296,Active,Orphanet,ORPHA:2832,Disorder,[Malformation syndrome],Short tarsus-absence of lower eyelashes syndrome,[Lopes-Gorlin syndrome],Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.,[600269],,,,,Lopes Gorlin syndrome,TRUE,FALSE,Active +GARD:2960,Active,Orphanet,ORPHA:2272,Disorder,[Malformation syndrome],Ichthyosis-oral and digital anomalies syndrome,[Clayton Smith-Donnai syndrome],"Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.",[258840],,,,,Ichthyosis tapered fingers midline groove up,TRUE,FALSE,Active +GARD:2961,Legacy,GARD,,,,,,,,,,,,"Ichthyosis, erythrokeratolysis hemalis",TRUE,FALSE,Retired +GARD:2965,Legacy,GARD,,,,,,,,,,,,Ichthyosis and male hypogonadism,TRUE,FALSE,Retired +GARD:2966,Active,Orphanet,ORPHA:455,Disorder,[Disease],Superficial epidermolytic ichthyosis,"[Ichthyosis bullosa of Siemens, SEI]",Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.,[146800],,,,,Ichthyosis bullosa of Siemens,TRUE,FALSE,Active +GARD:2967,Legacy,GARD,,,,,,,,,,,,Ichthyosis linearis circumflexa,TRUE,FALSE,Active +GARD:2969,Legacy,GARD,,,,,,,,,,,,"Nystagmus 1, congenital, X- linked",TRUE,FALSE,Active +GARD:297,Legacy,GARD,,,,,,,,,,,,Lockwood Feingold syndrome,TRUE,FALSE,Retired +GARD:2970,Legacy,GARD,,,,,,,,,,,,Idiopathic diffuse interstitial fibrosis,TRUE,FALSE,Retired +GARD:2978,Active,Orphanet+OMIM,OMIM:601631,Subtype of disorder,[Morphological anomaly subtype],Anterior segment dysgenesis 3,"[iris hypoplasia with glaucoma, glaucoma iridogoniodysplasia, familial, Iridogoniodysgenesis, type 1, iridogoniodysgenesis anomaly, autosomal dominant]","Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {4:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({6:Gould and John, 2002}).\n\nSome patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {16:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({22:Peters, 1906}).\n\nIn Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by {23:Smith and Traboulsi, 2012}).",[601631],"[91483, 98978]","[Axenfeld anomaly, Rieger anomaly]","[16485, 16482]",,Iridogoniodysgenesis type 1,TRUE,FALSE,Active +GARD:2979,Legacy,GARD,,,,,,,,,,,,Illum syndrome,FALSE,FALSE,Retired +GARD:298,Active,Orphanet,ORPHA:2410,Disorder,[Malformation syndrome],Hypergonadotropic hypogonadism-cataract syndrome,[Lubinsky syndrome],A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.,[240950],,,,,Lubinsky syndrome,TRUE,FALSE,Active +GARD:2981,Active,Orphanet+OMIM,OMIM:242670,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with defective radial spokes,[Immotile cilia syndrome due to defective radial spokes],,[242670],[244],[Primary ciliary dyskinesia],[4484],,"Immotile cilia syndrome, due to defective radial spokes",TRUE,FALSE,Active +GARD:2982,Active,Orphanet+OMIM,OMIM:242680,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with excessively long cilia,[Immotile cilia syndrome due to excessively long cilia],,[242680],[244],[Primary ciliary dyskinesia],[4484],,Ciliary dyskinesia with excessively long cilia,TRUE,FALSE,Active +GARD:2984,Active,Orphanet+OMIM,OMIM:146830,Subtype of disorder,[Disease subtype],"Immune deficiency, familial variable",,"{2:Rosen and Bougas (1963)} reported the case of a woman with recurrent infection, marked elevation of 19S gamma globulin, and virtual absence of 7S. {1:Feldman et al. (1975)} found that 12 relatives had a variable immunodeficiency. Ten had elevation of IgM, combined with deficiency of IgG and IgA in 3 and deficiency of one or the other in 2. Five had only elevated IgM and 2 had normal IgM but deficiency of IgG and IgA. No male-to-male transmission was observed.",[146830],[1572],[Common variable immunodeficiency],[6140],,"Immune deficiency, familial variable",TRUE,FALSE,Active +GARD:2986,Legacy,GARD,,,,,,,,,,,,"Immunodeficiency, microcephaly with normal intelligence",TRUE,FALSE,Retired +GARD:2988,Active,Orphanet,ORPHA:935,Disorder,[Disease],Short-limb skeletal dysplasia with severe combined immunodeficiency,"[Achondroplasia-SCID syndrome, Achondroplasia-Swiss type agammaglobulinemia syndrome, Achondroplasia-severe combined immunodeficiency syndrome, Immunodeficiency-short limb dwarfism syndrome, Short limb skeletal dysplasia with SCID]","An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.",[200900],,,,,Short-limb skeletal dysplasia with severe combined immunodeficiency,TRUE,FALSE,Active +GARD:2989,Active,Orphanet,ORPHA:2759,Disorder,[Malformation syndrome],Imperforate oropharynx-costovertebral anomalies syndrome,[Seghers syndrome],"Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.",,,,,,Imperforate oropharynx-costo vetebral anomalies,TRUE,FALSE,Active +GARD:299,Active,Orphanet,ORPHA:231556,Disorder,[Disease],Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,[Late-onset localized JEB-intellectual disability syndrome],"A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.",[226440],,,,,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,TRUE,FALSE,Active +GARD:2992,Legacy,GARD,,,,,,,,,,,,Hypomelanosis of Ito,TRUE,FALSE,Active +GARD:2994,Legacy,GARD,,,,,,,,,,,,Fetal indomethacin syndrome,TRUE,FALSE,Active +GARD:2995,Active,Orphanet,ORPHA:1943,Disorder,[Disease],Early-onset progressive encephalopathy with migrant continuous myoclonus,,"A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.",,,,,,Infant epilepsy with migrant focal crisis,TRUE,FALSE,Active +GARD:2996,Legacy,GARD,,,,,,,,,,,,Infantile axonal neuropathy,TRUE,FALSE,Active +GARD:2998,Active,Orphanet,ORPHA:2591,Disorder,[Disease],Infantile myofibromatosis,,"A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.","[615293, 228550]",,,,,Infantile myofibromatosis,TRUE,FALSE,Active +GARD:3,Active,Orphanet,ORPHA:920,Disorder,[Malformation syndrome],Ablepharon macrostomia syndrome,,"An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.",[200110],,,,,Ablepharon macrostomia syndrome,TRUE,FALSE,Active +GARD:30,Legacy,GARD,,,,,,,,,,,,Cholecystitis,TRUE,FALSE,Active +GARD:3000,Legacy,GARD,,,,,,,,,,,,Infantile recurrent chronic multifocal osteomyelitis,TRUE,FALSE,Retired +GARD:30000,Draft,GARD,,Group of disorders,[Category],Rare to-be-classified GARD Diseases,,,,,,,,,,, +GARD:3002,Active,Orphanet,ORPHA:3173,Disorder,[Disease],Infantile spasms-broad thumbs syndrome,[Tsao-Ellingson syndrome],"Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.",,,,,,Infantile spasms broad thumbs,TRUE,FALSE,Active +GARD:3004,Legacy,GARD,,,,,,,,,,,,Infantile striato thalamic degeneration,TRUE,FALSE,Active +GARD:3005,Legacy,GARD,,,,,,,,,,,,Infundibulopelvic dysgenesis,TRUE,FALSE,Active +GARD:3006,Active,Orphanet,ORPHA:642,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 4,"[CIPA, Congenital insensitivity to pain with anhidrosis, HSAN4, Hereditary sensory and autonomic neuropathy type IV]","A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.",[256800],,,,,Congenital insensitivity to pain with anhidrosis,TRUE,FALSE,Active +GARD:3007,Active,Orphanet,ORPHA:1052,Disorder,[Malformation syndrome],Mosaic variegated aneuploidy syndrome,[Warburton-Anyane-Yeboa syndrome],Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.,"[257300, 617598, 614114]",,,,,Mosaic variegated aneuploidy syndrome,TRUE,FALSE,Active +GARD:3008,Active,Orphanet,ORPHA:2297,Disorder,[Disease],Insulin-resistance syndrome type A,,"Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.",[610549],,,,,"Insulin-resistant acanthosis nigricans, type A",TRUE,FALSE,Active +GARD:3009,Active,Orphanet,ORPHA:2298,Disorder,[Disease],Insulin-resistance syndrome type B,,A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.,,,,,,Insulin-resistance type B,TRUE,FALSE,Active +GARD:301,Legacy,GARD,,,,,,,,,,,,Generalized resistance to thyroid hormone,TRUE,FALSE,Active +GARD:3010,Active,Orphanet,ORPHA:97279,Disorder,[Disease],Insulinoma,,"A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.",,,,,,Insulinoma,TRUE,FALSE,Active +GARD:3011,Legacy,GARD,,,,,,,,,,,,"Interferon gamma, receptor 1, deficiency",TRUE,FALSE,Active +GARD:3012,Active,Orphanet,ORPHA:981,Disorder,[Morphological anomaly],Internal carotid absence,,"Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.",,,,,,Internal carotid agenesis,TRUE,FALSE,Active +GARD:3013,Active,Orphanet,ORPHA:2300,Disorder,[Morphological anomaly],Multiple intestinal atresia,[Familial intestinal polyatresia syndrome],"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.",[243150],,,,,Intestinal atresia multiple,TRUE,FALSE,Active +GARD:3017,Active,Orphanet+OMIM,OMIM:300048,Subtype of disorder,[Morphological anomaly subtype],"Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked","[ciip, x-linked, congenital idiopathic intestinal pseudoobstruction, Ipox, intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement]","Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion ({1:Auricchio et al., 1996}).\n\nSome primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy ({243180}) ({11:Tanner et al., 1976}).",[300048],[2301],[Congenital short bowel syndrome],[16592],,Intestinal pseudoobstruction neuronal chronic idiopathic X-linked,TRUE,FALSE,Active +GARD:3019,Legacy,GARD,,,,,,,,,,,,Intracranial aneurysms multiple congenital anomaly,TRUE,FALSE,Retired +GARD:302,Active,Orphanet,ORPHA:99749,Disorder,[Disease],Kostmann syndrome,"[Infantile agranulocytosis, Severe congenital neutropenia type 3]","Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.",[610738],,,,,Severe congenital neutropenia autosomal recessive 3,TRUE,FALSE,Active +GARD:3020,Active,Orphanet,ORPHA:46724,Disorder,[Morphological anomaly],Cerebral arteriovenous malformation,[Intracranial arteriovenous malformation],"Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.",[108010],,,,,Intracranial arteriovenous malformation,TRUE,FALSE,Active +GARD:3021,Legacy,GARD,,,,,,,,,,,,Intrathoracic kidney vertebral fusion,TRUE,FALSE,Retired +GARD:3022,Legacy,GARD,,,,,,,,,,,,Intrauterine growth retardation - mandibular malar hypoplasia,TRUE,FALSE,Retired +GARD:3023,Legacy,GARD,,,,,,,,,,,,Intrauterine infections,TRUE,FALSE,Retired +GARD:3024,Active,Orphanet,ORPHA:332,Disorder,[Disease],Congenital intrinsic factor deficiency,"[Congenital pernicious anemia, Gastric intrinsic factor deficiency, Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency, IFD, Intrinsic factor deficiency]",Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.,"[261000, 243320]",,,,,Intrinsic factor deficiency,TRUE,FALSE,Active +GARD:3025,Legacy,GARD,,,,,,,,,,,,Iodine antenatal exposure,TRUE,FALSE,Active +GARD:3026,Active,Orphanet+OMIM,OMIM:137600,Subtype of disorder,[Morphological anomaly subtype],Anterior segment dysgenesis 4,"[Iridogoniodysgenesis, type 2, iris hypoplasia with early-onset glaucoma, autosomal dominant, iridogoniodysgenesis syndrome]","Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {3:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({5:Gould and John, 2002}).\n\nPatients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {12:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({14:Peters, 1906}).",[137600],[91483],[Rieger anomaly],[16482],,Iridogoniodysgenesis type 2,TRUE,FALSE,Active +GARD:3027,Legacy,GARD,,,,,,,,,,,,Iris dysplasia hypertelorism deafness,TRUE,FALSE,Retired +GARD:3029,Legacy,GARD,,,,,,,,,,,,Ischiadic hypoplasia renal dysfunction immunodeficiency,TRUE,FALSE,Retired +GARD:303,Legacy,GARD,,,,,,,,,,,,Jeune syndrome situs inversus,TRUE,FALSE,Active +GARD:3030,Active,Orphanet,ORPHA:1509,Disorder,[Disease],Coxopodopatellar syndrome,"[Ischiopatellar dysplasia, SPS, Scott-Taor syndrome, Small patella syndrome]",Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.,[147891],,,,,Small patella syndrome,TRUE,FALSE,Active +GARD:3033,Active,Orphanet,ORPHA:472,Disorder,[Disease],Isosporiasis,[Cystoisosporiasis],"Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with Isospora belli (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.",,,,,,Cystoisosporiasis,TRUE,FALSE,Active +GARD:3036,Legacy,GARD,,,,,,,,,,,,Isthmian coarctation,TRUE,FALSE,Retired +GARD:304,Active,Orphanet,ORPHA:90340,Disorder,[Disease],Blau syndrome,,"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.",[186580],,,,,Blau syndrome,TRUE,FALSE,Active +GARD:3040,Legacy,GARD,,,,,,,,,,,,Jaffer Beighton syndrome,TRUE,FALSE,Active +GARD:3044,Legacy,GARD,,,,,,,,,,,,Jankovic Rivera syndrome,TRUE,FALSE,Retired +GARD:3045,Active,Orphanet,ORPHA:228349,Subtype of disorder,[Etiological subtype],CLN2 disease,"[Classic late infantile NCL, Classic late infantile neuronal ceroid lipofuscinosis]",,[204500],,,,,Neuronal ceroid lipofuscinosis 2,TRUE,FALSE,Active +GARD:3046,Legacy,GARD,,,,,,,,,,,,Jensen syndrome,TRUE,FALSE,Retired +GARD:3047,Active,Orphanet,ORPHA:93314,Disorder,[Disease],"Spondylometaphyseal dysplasia, Kozlowski type",,"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.",[184252],,,,,"Spondylometaphyseal dysplasia, Kozlowski type",TRUE,FALSE,Active +GARD:3048,Active,Orphanet,ORPHA:90647,Disorder,[Disease],Jervell and Lange-Nielsen syndrome,"[Long QT interval-deafness syndrome, Long QT interval-hearing loss syndrome]","A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.","[220400, 612347]",,,,,Jervell Lange-Nielsen syndrome,TRUE,FALSE,Active +GARD:3049,Active,Orphanet,ORPHA:474,Disorder,[Malformation syndrome],Jeune syndrome,"[Asphyxiating thoracic dystrophy of the newborn, JATD, Jeune asphyxiating thoracic dystrophy]","Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.","[611263, 616300, 615633, 615630, 613819, 208500, 613091, 617088, 614376]",,,,,Jeune syndrome,TRUE,FALSE,Active +GARD:305,Active,Orphanet,ORPHA:3236,Disorder,[Malformation syndrome],Conductive deafness-ptosis-skeletal anomalies syndrome,"[Conductive hearing loss-ptosis-skeletal anomalies syndrome, Jackson-Barr syndrome]","Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.",[221320],,,,,Deafness conductive ptosis skeletal anomalies,TRUE,FALSE,Active +GARD:3050,Legacy,GARD,,,,,,,,,,,,Johnson Hall Krous syndrome,TRUE,FALSE,Retired +GARD:3051,Active,Orphanet,ORPHA:1112,Disorder,[Malformation syndrome],Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,[Johnson-Munson syndrome],"An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.",[207620],,,,,Johnson Munson syndrome,TRUE,FALSE,Active +GARD:3053,Active,Orphanet,ORPHA:1485,Disorder,[Malformation syndrome],"Arthrogryposis-hyperkeratosis syndrome, lethal form",[Johnston-Aarons-Schelley syndrome],"A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.",[208158],,,,,Johnston Aarons Schelley syndrome,TRUE,FALSE,Active +GARD:3054,Active,Orphanet,ORPHA:2295,Disorder,[Disease],Familial articular hypermobility syndrome,"[Familial joint instability syndrome, Familial joint laxity, Joint instability syndrome]","A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.",[147900],,,,,Familial joint instability syndrome,TRUE,FALSE,Active +GARD:3055,Legacy,GARD,,,,,,,,,,,,Jones Hersh Yusk syndrome,TRUE,FALSE,Active +GARD:3056,Active,Orphanet,ORPHA:2027,Disorder,[Malformation syndrome],Gingival fibromatosis-progressive deafness syndrome,"[Gingival fibromatosis-progressive hearing loss syndrome, Jones syndrome]","A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.",[135550],,,,,Jones syndrome,TRUE,FALSE,Active +GARD:3057,Legacy,GARD,,,,,,,,,,,,Jorgenson Lenz syndrome,TRUE,FALSE,Active +GARD:306,Active,Orphanet,ORPHA:2848,Disorder,[Disease],Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,"[Arthropathy-camptodactyly syndrome, CACP syndrome, Jacobs syndrome, Pericarditis-arthropathy-camptodactyly syndrome]","A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.",[208250],,,,,Camptodactyly arthropathy coxa vara pericarditis syndrome,TRUE,FALSE,Active +GARD:3060,Active,Orphanet,ORPHA:2319,Disorder,[Malformation syndrome],Juberg-Hayward syndrome,"[Cleft lip/palate-abnormal thumbs-microcephaly syndrome, Orocraniodigital syndrome]","Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.",[216100],,,,,Juberg-Hayward syndrome,TRUE,FALSE,Active +GARD:3061,Legacy,GARD,,,,,,,,,,,,Judge Misch Wright syndrome,TRUE,FALSE,Active +GARD:3062,Active,Orphanet,ORPHA:2321,Disorder,[Malformation syndrome],Jung syndrome,,"A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.",[601427],,,,,Jung Wolff Back Stahl syndrome,TRUE,FALSE,Active +GARD:3065,Active,Orphanet,ORPHA:2929,Disorder,[Disease],Juvenile polyposis syndrome,"[JIP, JPS, Juvenile gastrointestinal polyposis, Juvenile intestinal polyposis]",A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.,"[175050, 174900, 612242]",,,,,Juvenile polyposis syndrome,TRUE,FALSE,Active +GARD:3066,Active,Orphanet,ORPHA:1573,Disorder,[Malformation syndrome],Hypotrichosis with juvenile macular degeneration,"[HJMD, Hypotrichosis with juvenile macular dystrophy]",Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.,[601553],,,,,Juvenile macular degeneration and hypotrichosis,TRUE,FALSE,Active +GARD:3067,Legacy,GARD,,,,,,,,,,,,Juvenile idiopathic arthritis,FALSE,FALSE,Active +GARD:3068,Active,Orphanet,ORPHA:26137,Disorder,[Disease],Juvenile temporal arteritis,"[JTA, Non-giant cell granulomatous temporal arteritis with eosinophilia]","Juvenile temporal arteritis (JTA) is an extremely uncommon vasculitis of unknown etiology. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area. The term JTA was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and microaneurysmal disruption of the media. JTA has a benign clinical course, is treated by surgical excision and does not recur.",,,,,,Juvenile temporal arteritis,TRUE,FALSE,Active +GARD:307,Active,Orphanet,ORPHA:2308,Disorder,[Malformation syndrome],Jacobsen syndrome,"[11q terminal deletion syndrome, Del(11)(q23.3), Del(11)(qter), Distal deletion 11q, Distal monosomy 11q, Monosomy 11qter, Telomeric deletion 11q]","A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.",[147791],,,,,Jacobsen syndrome,TRUE,FALSE,Active +GARD:3070,Active,Orphanet+OMIM,OMIM:147950,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 2 with or without anosmia,[Kallmann syndrome 2],"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {34:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nAlthough HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction ({44:Sykiotis et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without Anosmia\n\nOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 ({244200}), caused by mutation in the PROKR2 gene ({607123}); HH4 ({610628}), caused by mutation in the PROK2 gene ({607002}); HH5 ({612370}), caused by mutation in the CHD7 gene ({608892}); HH6 ({612702}), caused by mutation in the FGF8 gene ({600483}); HH7 ({146110}), caused by mutation in the GNRHR gene ({138850}); HH8 ({614837}), caused by mutation in the KISS1R gene ({604161}); HH9 ({614838}), caused by mutation in the NELF gene ({608137}); HH10 ({614839}), caused by mutation in the TAC3 gene ({162330}); HH11 ({614840}), caused by mutation in the TACR3 gene ({162332}); HH12 ({614841}), caused by mutation in the GNRH1 gene ({152760}); HH13 ({614842}), caused by mutation in the KISS1 gene ({603286}); HH14 ({614858}), caused by mutation in the WDR11 gene ({606417}); HH15 ({614880}), caused by mutation in the HS6ST1 gene ({604846}); HH16 ({614897}), caused by mutation in the SEMA3A gene ({603961}); HH17 ({615266}), caused by mutation in the SPRY4 gene ({607984}); HH18 ({615267}), caused by mutation in the IL17RD gene ({606807}); HH19 ({615269}), caused by mutation in the DUSP6 gene ({602748}); HH20 ({615270}), caused by mutation in the FGF17 gene ({603725}); HH21 ({615271}), caused by mutation in the FLRT3 gene ({604808}); HH22 ({616030}), caused by mutation in the FEZF1 gene ({613301}); HH23 ({228300}), caused by mutation in the LHB gene ({152780}); HH24 ({229070}), caused by mutation in the FSHB gene ({136530}); HH25 ({618841}), caused by mutation in the NDNF gene ({616506}); and HH26 ({619718}), caused by mutation in the TCF12 gene.\n\nThere is also an X-linked form of the disorder (HH1; {308700}), caused by mutation in the KAL1 gene ({300836}).\n\nThere is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by {8:Chan, 2011}). {44:Sykiotis et al. (2010)}, for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.\n\n<Subhead> Reviews\n\n{49:Valdes-Socin et al. (2014)} reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.\n\n{54:Young et al. (2019)} reviewed the genetics, diagnosis, and clinical management of patients with congenital hypogonadotropic hypogonadism.",[147950],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 2,TRUE,FALSE,Active +GARD:3071,Active,Orphanet+OMIM,OMIM:308700,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 1 with or without anosmia,"[anosmic hypogonadism, dysplasia olfactogenitalis of de morsier, kms, hypogonadotropic hypogonadism and anosmia, Kallmann syndrome 1]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {38:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'\n\nFor information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[308700],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 1,TRUE,FALSE,Active +GARD:3073,Active,Orphanet+OMIM,OMIM:244200,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 3 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {4:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[244200],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 3,TRUE,FALSE,Active +GARD:3074,Active,Orphanet,ORPHA:1836,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Kantaputra type","[Kantaputra mesomelic dysplasia, MDK, Mesomelic dysplasia, Thai type]",Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.,"[613681, 156232]",,,,,Mesomelic dysplasia Kantaputra type,TRUE,FALSE,Active +GARD:3075,Active,Orphanet,ORPHA:949,Disorder,[Malformation syndrome],Acrocraniofacial dysostosis,[Kaplan-Plauchu-Fitch syndrome],"A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.",[201050],,,,,Kaplan Plauchu Fitch syndrome,TRUE,FALSE,Active +GARD:3076,Legacy,GARD,,,,,,,,,,,,Kaplowitz Bodurtha syndrome,TRUE,FALSE,Retired +GARD:3077,Active,Orphanet,ORPHA:2122,Disorder,[Disease],Kaposiform hemangioendothelioma,,A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.,,,,,,Kaposiform Hemangioendothelioma,TRUE,FALSE,Active +GARD:3078,Active,Orphanet,ORPHA:2328,Disorder,[Malformation syndrome],Kapur-Toriello syndrome,"[Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome]","Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.",[244300],,,,,Kapur Toriello syndrome,TRUE,FALSE,Active +GARD:308,Legacy,GARD,,,,,,,,,,,,Pachyonychia congenita type 1,TRUE,FALSE,Retired +GARD:3080,Legacy,GARD,,,,,,,,,,,,Kasznica Carlson Coppedge syndrome,TRUE,FALSE,Active +GARD:3081,Legacy,GARD,,,,,,,,,,,,Katsantoni Papadakou Lagoyanni syndrome,TRUE,FALSE,Active +GARD:3082,Legacy,GARD,,,,,,,,,,,,"Short stature, cranial hyperostosis, hepatomegaly and diabetes",TRUE,FALSE,Retired +GARD:3084,Active,Orphanet,ORPHA:2707,Disorder,[Malformation syndrome],"Oculocerebrofacial syndrome, Kaufman type",,"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.",[244450],,,,,Kaufman oculocerebrofacial syndrome,TRUE,FALSE,Active +GARD:3086,Active,Orphanet,ORPHA:991,Disorder,[Malformation syndrome],PAGOD syndrome,[Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome],"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.",[202660],,,,,PAGOD syndrome,TRUE,FALSE,Active +GARD:3087,Legacy,GARD,,,,,,,,,,,,Kennerknecht Vogel syndrome,TRUE,FALSE,Retired +GARD:3089,Active,Orphanet,ORPHA:2334,Disorder,[Disease],Autosomal dominant keratitis,[Hereditary keratitis],"Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.",[148190],,,,,Hereditary keratitis,TRUE,FALSE,Active +GARD:309,Legacy,GARD,,,,,,,,,,,,Fibromatosis multiple non ossifying,TRUE,FALSE,Active +GARD:3090,Active,Orphanet,ORPHA:65748,Disorder,[Disease],Multiple self-healing squamous epithelioma,"[Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type, Ferguson-Smith disease, MSSE, Multiple keratoacanthoma, Ferguson-Smith type, Self-healing squamous epithelioma type 1]",Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.,[132800],,,,,Multiple self healing squamous epithelioma,TRUE,FALSE,Active +GARD:3091,Legacy,GARD,,,,,,,,,,,,Keratoconus posticus circumscriptus,TRUE,FALSE,Active +GARD:3092,Active,Orphanet,ORPHA:494,Disorder,[Disease],Keratoderma hereditarium mutilans,"[Mutilating keratoderma of Vohwinkel, Mutilating keratoderma plus deafness, Mutilating keratoderma plus hearing loss, PPK mutilans and deafness, PPK mutilans and hearing loss, Vohwinkel syndrome]","Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.",[124500],,,,,Vohwinkel syndrome,TRUE,FALSE,Active +GARD:3094,Active,Orphanet,ORPHA:2202,Disorder,[Disease],Palmoplantar keratoderma-deafness syndrome,"[PPK-deafness syndrome, Palmoplantar hyperkeratosis-deafness syndrome, Palmoplantar hyperkeratosis-hearing loss syndrome, Palmoplantar keratoderma-hearing loss syndrome]","Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.",[148350],,,,,Keratoderma palmoplantar deafness,TRUE,FALSE,Active +GARD:3095,Active,Orphanet,ORPHA:2201,Disorder,[Disease],Palmoplantar keratoderma-spastic paralysis syndrome,"[Palmoplantar hyperkeratosis-spastic paralysis syndrome, Powell-Venencie-Gordon syndrome]","A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.",[148360],,,,,Keratoderma palmoplantar spastic paralysis,TRUE,FALSE,Active +GARD:3096,Active,Orphanet,ORPHA:495,Disorder,[Disease],Transgrediens et progrediens palmoplantar keratoderma,"[Greither disease, Keratosis extremitatum hereditaria progrediens, Keratosis palmoplantaris transgrediens et progrediens, Progressive diffuse PPK, Progressive diffuse palmoplantar keratoderma, Transgrediens et progrediens PPK]","A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.",[133200],,,,,Keratoderma palmoplantaris transgrediens,TRUE,FALSE,Active +GARD:3098,Active,Orphanet,ORPHA:2200,Disorder,[Disease],Focal palmoplantar and gingival keratoderma,[Focal palmoplantar and gingival hyperkeratosis],"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.",[148730],,,,,Focal palmoplantar and gingival keratoderma,TRUE,FALSE,Active +GARD:3099,Active,Orphanet,ORPHA:2339,Disorder,[Malformation syndrome],Keratosis follicularis-dwarfism-cerebral atrophy syndrome,,"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.",[308830],,,,,Keratosis follicularis dwarfism and cerebral atrophy,TRUE,FALSE,Active +GARD:31,Active,Orphanet,ORPHA:35686,Disorder,[Disease],Serpiginous choroiditis,[Geographic helicoid peripapillary choroidopathy],"A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.",,,,,,Serpiginous choroiditis,TRUE,FALSE,Active +GARD:310,Active,Orphanet,ORPHA:3474,Disorder,[Malformation syndrome],CHIME syndrome,"[Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, Congenital disorder of glycosylation due to PIGL deficiency, Neuroectodermal dysplasia, CHIME type, Neuroectodermal syndrome, Zunich type, PIGL-CDG, Zunich-Kaye syndrome]","CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.",[280000],,,,,Zunich neuroectodermal syndrome,TRUE,FALSE,Active +GARD:3100,Active,Orphanet,ORPHA:678,Disorder,[Disease],Papillon-Lefèvre syndrome,"[Keratosis palmoplantar-periodontopathy syndrome, PLS]",Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.,[245000],,,,,Papillon Lefevre syndrome,TRUE,FALSE,Active +GARD:3101,Legacy,GARD,,,,,,,,,,,,Keratosis palmoplantaris adenocarcinoma of the colon,TRUE,FALSE,Retired +GARD:3102,Active,Orphanet,ORPHA:2198,Disorder,[Disease],Palmoplantar keratoderma-esophageal carcinoma syndrome,"[Bennion-Patterson syndrome, Howell-Evans syndrome, Keratosis palmoplantaris-esophageal carcinoma syndrome, Palmoplantar hyperkeratosis-esophageal carcinoma syndrome, Tylosis-oesophageal carcinoma syndrome]","A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.",[148500],,,,,Tylosis with esophageal cancer,TRUE,FALSE,Active +GARD:3103,Active,Orphanet,ORPHA:79501,Disorder,[Disease],Punctate palmoplantar keratoderma type 1,"[Buschke-Fischer-Brauer syndrome, Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type, PPKP1]","Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..","[614936, 148600]",,,,,Punctate palmoplantar keratoderma type I,TRUE,FALSE,Active +GARD:3105,Active,Orphanet,ORPHA:28378,Disorder,[Disease],Tyrosinemia type 2,"[Keratosis palmoplantaris-corneal dystrophy syndrome, Oculocutaneous tyrosinemia, Richner-Hanhart syndrome, Tyrosinemia due to TAT deficiency, Tyrosinemia due to tyrosine aminotransferase deficiency, Tyrosinemia type II]","Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.",[276600],,,,,Tyrosinemia type 2,TRUE,FALSE,Active +GARD:3108,Legacy,GARD,,,,,,,,,,,,Seborrheic keratosis,FALSE,FALSE,Active +GARD:3109,Active,Orphanet,ORPHA:499,Disorder,[Disease],Kerion celsi,,"A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.",,,,,,Kerion celsi,TRUE,FALSE,Active +GARD:311,Legacy,GARD,,,,,,,,,,,,Saal Bulas syndrome,TRUE,FALSE,Active +GARD:3112,Active,Orphanet,ORPHA:98841,Disorder,[Disease],Anaplastic large cell lymphoma,"[ALCL, CD30 positive anaplastic large cell lymphoma, Ki-1 positive anaplastic large cell lymphoma, Primary systemic ALCL, sACL]","A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.",,,,,,Anaplastic large cell lymphoma,TRUE,FALSE,Active +GARD:3113,Active,Orphanet,ORPHA:477,Disorder,[Disease],KID syndrome,"[Ichthyosis hystrix Rheydt type, KID/HID syndrome, Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome, Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome, Senter syndrome]","A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.","[602540, 148210, 242150]",,,,,KID syndrome,TRUE,FALSE,Active +GARD:3115,Legacy,GARD,,,,,,,,,,,,Kleeblattschaedel syndrome,TRUE,FALSE,Active +GARD:3117,Active,Orphanet,ORPHA:33543,Disorder,[Disease],Kleine-Levin syndrome,,Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.,[148840],,,,,Kleine Levin syndrome,TRUE,FALSE,Active +GARD:3118,Active,Orphanet,ORPHA:2110,Disorder,[Malformation syndrome],Hallux varus-preaxial polysyndactyly syndrome,[Kleiner-Holmes syndrome],"Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.",[234280],,,,,Kleiner Holmes syndrome,TRUE,FALSE,Active +GARD:312,Active,Orphanet,ORPHA:97360,Disorder,[Malformation syndrome],Robinow syndrome,"[Acral dysostosis with facial and genital abnormalities, Fetal face syndrome, Mesomelic dwarfism-small genitalia syndrome, Robinow dwarfism, Robinow-Silverman-Smith syndrome]","Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.","[268310, 616331, 616894, 180700]",,,,,Robinow syndrome,TRUE,FALSE,Active +GARD:3122,Active,Orphanet,ORPHA:2346,Group of disorders,[Clinical group],Angioosteohypertrophic syndrome,[Klippel-Trénaunay-Weber syndrome],"A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.","[608354, 149000]",,,,,Klippel-Trenaunay syndrome,TRUE,FALSE,Active +GARD:3123,Legacy,GARD,,,,,,,,,,,,Klumpke paralysis,TRUE,FALSE,Active +GARD:3124,Active,Orphanet,ORPHA:2347,Disorder,[Malformation syndrome],Lethal Kniest-like dysplasia,,"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.",[245190],,,,,Kniest like dysplasia lethal,TRUE,FALSE,Active +GARD:3125,Active,Orphanet,ORPHA:2698,Disorder,[Disease],Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,"[Bart-Pumphrey syndrome, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome, Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome, Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome]","A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.",[149200],,,,,"Knuckle pads, leuconychia and sensorineural deafness",TRUE,FALSE,Active +GARD:3126,Active,Orphanet,ORPHA:2348,Disorder,[Disease],"Familial partial lipodystrophy, Dunnigan type","[Dunnigan syndrome, FPLD2, Familial partial lipodystrophy type 2]","A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.",[151660],,,,,Familial partial lipodystrophy type 2,TRUE,FALSE,Active +GARD:3128,Active,Orphanet,ORPHA:1946,Disorder,[Malformation syndrome],Amelocerebrohypohidrotic syndrome,"[Epilepsy-dementia-amelogenesis imperfecta syndrome, Kohlschütter-Tönz syndrome]","A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.",[226750],,,,,Kohlschutter Tonz syndrome,TRUE,FALSE,Active +GARD:3129,Active,Orphanet,ORPHA:3197,Disorder,[Disease],Hereditary hyperekplexia,"[Congenital stiff man syndrome, Familial startle disease, Hereditary hyperexplexia, Kok disease, Stiff baby syndrome]",Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.,"[149400, 618011, 614618, 614619]",,,,,Hereditary hyperekplexia,TRUE,FALSE,Active +GARD:313,Legacy,GARD,,,,,,,,,,,,Sabinas brittle hair syndrome,TRUE,FALSE,Active +GARD:3130,Legacy,GARD,,,,,,,,,,,,Konigsmark Knox Hussels syndrome,TRUE,FALSE,Retired +GARD:3131,Legacy,GARD,,,,,,,,,,,,Koone Rizzo Elias syndrome,TRUE,FALSE,Active +GARD:3134,Legacy,GARD,,,,,,,,,,,,Kotzot-Richter syndrome,TRUE,FALSE,Active +GARD:3136,Legacy,GARD,,,,,,,,,,,,Kozlowski Brown Hardwick syndrome,TRUE,FALSE,Active +GARD:3137,Legacy,GARD,,,,,,,,,,,,Kozlowski Celermajer Tink syndrome,TRUE,FALSE,Retired +GARD:3139,Legacy,GARD,,,,,,,,,,,,Kozlowski Ouvrier syndrome,TRUE,FALSE,Active +GARD:314,Active,Orphanet,ORPHA:3124,Disorder,[Disease],Saccharopinuria,"[Hyperlysinemia type II, Saccharopine dehydrogenase deficiency]",Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.,[268700],,,,,Saccharopinuria,TRUE,FALSE,Active +GARD:3140,Legacy,GARD,,,,,,,,,,,,Kozlowski Rafinski Klicharska syndrome,TRUE,FALSE,Active +GARD:3141,Active,Orphanet,ORPHA:3082,Disorder,[Malformation syndrome],Intellectual disability-polydactyly-uncombable hair syndrome,[Kozlowski-Krajewska syndrome],"Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.",,,,,,Kozlowski-Krajewska syndrome,TRUE,FALSE,Active +GARD:3143,Legacy,GARD,,,,,,,,,,,,Krauss Herman Holmes syndrome,TRUE,FALSE,Active +GARD:3144,Legacy,GARD,,,,,,,,,,,,Krieble Bixler syndrome,TRUE,FALSE,Active +GARD:3149,Legacy,GARD,,,,,,,,,,,,Kurczynski Casperson syndrome,TRUE,FALSE,Retired +GARD:315,Legacy,GARD,,,,,,,,,,,,Sackey Sakati Aur syndrome,TRUE,FALSE,Active +GARD:3150,Active,Orphanet,ORPHA:1149,Disorder,[Malformation syndrome],Kuskokwim syndrome,"[Arthrogryposis-like syndrome, Kuskokwim disease]","A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.",[259450],,,,,Kuskokwim disease,TRUE,FALSE,Active +GARD:3151,Legacy,GARD,,,,,,,,,,,,Kuster Majewski Hammerstein syndrome,TRUE,FALSE,Retired +GARD:3152,Legacy,GARD,,,,,,,,,,,,Kuster syndrome,TRUE,FALSE,Active +GARD:3157,Legacy,GARD,,,,,,,,,,,,Lachiewicz Sibley syndrome,TRUE,FALSE,Active +GARD:3159,Active,Orphanet,ORPHA:2364,Disorder,[Disease],Glycogen storage disease due to lactate dehydrogenase deficiency,"[GSD due to lactate dehydrogenase deficiency, Glycogenosis due to lactate dehydrogenase deficiency, LDH deficiency]","A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.","[612933, 614128]",,,,,Lactate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:3160,Active,Orphanet,ORPHA:284426,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,"[GSD due to lactate dehydrogenase M-subunit deficiency, Glycogenosis due to lactate dehydrogenase M-subunit deficiency, LDH-M subunit deficiency, Lactate dehydrogenase A deficiency]","A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.",[612933],,,,,Lactate dehydrogenase A deficiency,TRUE,FALSE,Active +GARD:3161,Active,Orphanet,ORPHA:284435,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,"[GSD due to lactate dehydrogenase H-subunit deficiency, Glycogenosis due to lactate dehydrogenase H-subunit deficiency, LDH-H subunit deficiency, Lactate dehydrogenase B deficiency]",,[614128],,,,,Lactate dehydrogenase B deficiency,TRUE,FALSE,Active +GARD:3162,Legacy,GARD,,,,,,,,,,,,Lactate dehydrogenase deficiency type C,TRUE,FALSE,Retired +GARD:3163,Active,Orphanet,ORPHA:17,Disorder,[Disease],Fatal infantile lactic acidosis with methylmalonic aciduria,,"Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.",[245400],,,,,Lactic acidosis congenital infantile,TRUE,FALSE,Active +GARD:3167,Legacy,GARD,,,,,,,,,,,,Lagophthalmia cleft lip palate,TRUE,FALSE,Retired +GARD:3168,Legacy,GARD,,,,,,,,,,,,Lambdoid synostosis,TRUE,FALSE,Active +GARD:3169,Active,Orphanet,ORPHA:1296,Disorder,[Malformation syndrome],Lambert syndrome,[Branchial dysplasia-intellectual disability-inguinal hernia syndrome],"A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.",[245550],,,,,Lambert syndrome,TRUE,FALSE,Active +GARD:317,Legacy,GARD,,,,,,,,,,,,Sacral hemangiomas multiple congenital abnormalities,TRUE,FALSE,Active +GARD:3170,Active,Orphanet+OMIM,OMIM:242300,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 1","[lamellar exfoliation of newborn, collodion fetus, Ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution, ichthyosis congenita ii, collodion baby, self-healing, ichthyosis congenita, desquamation of newborn, ichthyosis, lamellar, 1, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {17:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({32:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {16:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {26:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Congenital Ichthyosis\n\nAutosomal recessive congenital ichthyosis-2 (ARCI2; {242100}) is caused by mutation in the ALOX12B gene ({603741}) on chromosome 17p13. ARCI3 ({606545}) is caused by mutation in the ALOXE3 gene ({607206}) on chromosome 17p13. ARCI4A ({601277}) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene ({607800}) on chromosome 2q35. ARCI5 ({604777}) is caused by mutation in the CYP4F22 gene ({611495}) on chromosome 19p13. ARCI6 ({612281}) is caused by mutation in the NIPAL4 gene (ichthyin; {609383}) on chromosome 5q33. ARCI7 ({615022}) has been mapped to chromosome 12p11. ARCI8 ({613943}) is caused by mutation in the LIPN gene ({613924}) on chromosome 10q23. ARCI9 ({615023}) is caused by mutation in the CERS3 gene ({615276}) on chromosome 15q26. ARCI10 ({615024}) is caused by mutation in the PNPLA1 gene ({612121}) on chromosome 6p21. ARCI11 ({602400}) is caused by mutation in the ST14 gene ({606797}) on chromosome 11q24. ARCI12 ({617320}) is caused by mutation in the CASP14 gene ({605848}) on chromosome 19p13. ARCI13 ({617574}) is caused by mutation in the SDR9C7 gene ({609769}) on chromosome 12q13. ARCI14 ({617571}) is caused by mutation in the SULT2B1 gene ({604125}) on chromosome 19q13.\n\nIchthyosis prematurity syndrome ({608649}) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4; {604194}) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome ({275630}), is caused by mutation in the ABHD5 gene ({604780}).",[242300],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 1,TRUE,FALSE,Active +GARD:3172,Legacy,GARD,,,,,,,,,,,,Landy-Donnai syndrome,TRUE,FALSE,Active +GARD:3174,Legacy,GARD,,,,,,,,,,,,Langer Nishino Yamaguchi syndrome,TRUE,FALSE,Active +GARD:3176,Legacy,GARD,,,,,,,,,,,,Laparoschisis,TRUE,FALSE,Retired +GARD:3177,Legacy,GARD,,,,,,,,,,,,Laplane Fontaine Lagardere syndrome,TRUE,FALSE,Retired +GARD:3178,Active,Orphanet,ORPHA:544,Group of disorders,[Clinical group],Diffuse large B-cell lymphoma,[DLBCL],"Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.",,,,,,Diffuse Large B-Cell Lymphoma,TRUE,FALSE,Active +GARD:3181,Active,Orphanet,ORPHA:2371,Disorder,[Malformation syndrome],Lethal Larsen-like syndrome,,"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.",[245650],,,,,Larsen-like syndrome,TRUE,FALSE,Active +GARD:3183,Legacy,GARD,,,,,,,,,,,,"Larsen syndrome, dominant type",TRUE,FALSE,Retired +GARD:3184,Legacy,GARD,,,,,,,,,,,,"Larsen syndrome, recessive type",TRUE,FALSE,Retired +GARD:3186,Legacy,GARD,,,,,,,,,,,,Laryngeal abductor paralysis mental retardation,TRUE,FALSE,Retired +GARD:3188,Active,Orphanet,ORPHA:2004,Disorder,[Morphological anomaly],Laryngotracheoesophageal cleft,"[LC, LTEC, Laryngo-tracheo-esophageal cleft, Laryngo-tracheo-esophageal diastema]","A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.",[215800],,,,,Laryngeal cleft,TRUE,FALSE,Active +GARD:319,Active,Orphanet,ORPHA:494421,Subtype of disorder,[Clinical subtype],Sacrococcygeal teratoma,,,,,,,,Sacrococcygeal Teratoma,TRUE,FALSE,Active +GARD:3191,Active,Orphanet,ORPHA:2372,Disorder,[Malformation syndrome],Laryngocele,,"A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.",,,,,,Laryngocele,TRUE,FALSE,Active +GARD:3192,Legacy,GARD,,,,,,,,,,,,"Larynx, congenital partial atresia of",TRUE,FALSE,Active +GARD:3194,Active,Orphanet,ORPHA:1202,Disorder,[Malformation syndrome],Larynx atresia,,"A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities.",[150300],,,,,Larynx atresia,TRUE,FALSE,Active +GARD:3195,Active,Orphanet,ORPHA:505,Disorder,[Disease],Graham Little-Piccardi-Lassueur syndrome,"[Graham Little syndrome, Piccardi-Lassueur-Little syndrome]","A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.",,,,,,Graham-Little-Piccardi-Lassueur syndrome,TRUE,FALSE,Active +GARD:3196,Active,Orphanet+OMIM,OMIM:180020,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 1,,"{5:Krill et al. (1973)} defined an autosomal dominant form of diffuse cone degeneration. The findings of electroretinogram were distinctive. Progressive loss of visual acuity, photophobia, and defective color vision are the major complaints. Unlike retinitis pigmentosa ({180100}), loss of side vision and night blindness are rare complaints. The most common macular lesion has a bull's eye appearance produced by a central area of uninvolved epithelium. {5:Krill et al. (1973)} published pedigrees of extensively affected families. The patients may be mislabelled as total colorblindness. {1:Berson et al. (1968)}, {2:Davis and Hollenhorst (1955)}, {6:Sloan and Brown (1962)}, and others have reported families. {8:Warburg (1989)} reasoned that patients with mental retardation and retinal cone dystrophy might have visible chromosomal abnormalities. From the study of such patients and correlations with patients previously reported, {8:Warburg (1989)} concluded that a gene that causes retinal cone dystrophy is located in the region 6q25-q26. {7:Tranebjaerg et al. (1986)} described the case of a 6-year-old boy with cone dystrophy, mental retardation, facial dysmorphism, and short neck, hands and feet in whom a t(1;6)(q44;q27) was identified. This was said to be the first description of retinal cone dystrophy with a chromosomal aberration.\n\n{9:Went et al. (1992)} described an autosomal dominant cone dystrophy spanning 7 generations in a Dutch family. The onset of decline of visual acuity was after age 20; a nearly complete absence of blue-cone function developed before any abnormalities in visual acuity were detected by funduscopy, ERG, visual fields or fluorescein angiography.\n\nIn 10 patients with cone dystrophy, {3:Holopigian et al. (2004)} evaluated rod and cone photoreceptor function. Five of the patients were from a family with autosomal dominant cone dystrophy; the other 5 patients had no family history of cone dystrophy and were not related. Full-field ERG revealed that most of the patients had abnormal cone photoreceptor function. Some patients also showed rod photoreceptor abnormalities. The rod system changes were smaller than the cone system changes.\n\n{4:Kondo et al. (2004)} described a form of cone dystrophy which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal ({609021}).",[180020],[1871],[Progressive cone dystrophy],[11897],,Retinal cone dystrophy 1,TRUE,FALSE,Active +GARD:3197,Legacy,GARD,,,,,,,,,,,,Lateral body wall defect,TRUE,FALSE,Retired +GARD:3198,Legacy,GARD,,,,,,,,,,,,Laterality defects dominant,TRUE,FALSE,Active +GARD:320,Active,Orphanet,ORPHA:2256,Disorder,[Malformation syndrome],Fibulo-ulnar hypoplasia-renal anomalies syndrome,[Saito-Kuba-Tsuruta syndrome],"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.",[228940],,,,,Saito Kuba Tsuruta syndrome,TRUE,FALSE,Active +GARD:3201,Legacy,GARD,,,,,,,,,,,,Laurence Prosser Rocker syndrome,TRUE,FALSE,Retired +GARD:3203,Active,Orphanet,ORPHA:2379,Disorder,[Disease],Early-onset parkinsonism-intellectual disability syndrome,"[Laxova-Opitz syndrome, Waisman syndrome]","A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.",[311510],,,,,Early-onset parkinsonism-intellectual disability syndrome,TRUE,FALSE,Active +GARD:321,Active,Orphanet,ORPHA:2613,Disorder,[Disease],Nail-patella-like renal disease,[Salcedo syndrome],"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.",[256020],,,,,Salcedo syndrome,TRUE,FALSE,Active +GARD:3211,Legacy,GARD,,,,,,,,,,,,Leber miliary aneurysm,TRUE,FALSE,Retired +GARD:3212,Active,Orphanet,ORPHA:1297,Disorder,[Malformation syndrome],Branchio-oculo-facial syndrome,[BOFS],"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.",[113620],,,,,Branchiooculofacial syndrome,TRUE,FALSE,Active +GARD:3214,Legacy,GARD,,,,,,,,,,,,Leg absence deformity cataract,TRUE,FALSE,Active +GARD:3218,Legacy,GARD,,,,,,,,,,,,Leiomyomatosis familial,TRUE,FALSE,Retired +GARD:3219,Legacy,GARD,,,,,,,,,,,,"Leiomyomatosis of esophagus, cataract and hematuria",TRUE,FALSE,Active +GARD:322,Active,Orphanet,ORPHA:3156,Disorder,[Disease],Senior-Loken syndrome,"[Nephronophthisis with retinal dystrophy, Renal dysplasia-retinal aplasia syndrome, SLSN]","A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.","[613615, 606995, 610189, 266900, 606996, 609254, 616629, 616307, 614845]",,,,,Senior Loken Syndrome,TRUE,FALSE,Active +GARD:3221,Legacy,GARD,,,,,,,,,,,,Leisti Hollister Rimoin syndrome,TRUE,FALSE,Retired +GARD:3223,Active,Orphanet,ORPHA:2658,Disorder,[Malformation syndrome],Lenz-Majewski hyperostotic dwarfism,,"An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.",[151050],,,,,Lenz Majewski hyperostotic dwarfism,TRUE,FALSE,Active +GARD:3224,Active,Orphanet,ORPHA:240,Disorder,[Malformation syndrome],Léri-Weill dyschondrosteosis,[Léri-Weill syndrome],"A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.",[127300],,,,,Leri Weill dyschondrosteosis,TRUE,FALSE,Active +GARD:3225,Legacy,GARD,,,,,,,,,,,,Lethal chondrodysplasia Moerman type,TRUE,FALSE,Active +GARD:3226,Legacy,GARD,,,,,,,,,,,,Lethal chondrodysplasia Seller type,TRUE,FALSE,Active +GARD:3227,Active,Orphanet,ORPHA:1486,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 1,"[Herva disease, LCCS1, Multiple contracture syndrome, Finnish type]","Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.",[253310],,,,,Lethal congenital contracture syndrome 1,TRUE,FALSE,Active +GARD:3228,Active,Orphanet,ORPHA:511,Disorder,[Disease],Maple syrup urine disease,"[BCKD deficiency, BCKDH deficiency, Branched-chain 2-ketoacid dehydrogenase deficiency, Branched-chain ketoaciduria, MSUD]","A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.","[615135, 248600]",,,,,Maple syrup urine disease,TRUE,FALSE,Active +GARD:323,Legacy,GARD,,,,,,,,,,,,Sallis Beighton syndrome,TRUE,FALSE,Retired +GARD:3230,Active,Orphanet,ORPHA:512,Disorder,[Disease],Metachromatic leukodystrophy,"[Arylsulfatase A deficiency, MLD]","A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.","[250100, 249900, 156310]",,,,,Metachromatic leukodystrophy,TRUE,FALSE,Active +GARD:3231,Active,Orphanet,ORPHA:99852,Disorder,[Disease],Ravine syndrome,"[Progressive encephalopathy with severe infantile anorexia, Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome]","Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.",,,,,,RAVINE syndrome,TRUE,FALSE,Draft +GARD:3232,Active,Orphanet,ORPHA:2386,Disorder,[Disease],Leukoencephalopathy-palmoplantar keratoderma syndrome,,"Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.",,,,,,Leukoencephalopathy palmoplantar keratoderma,TRUE,FALSE,Active +GARD:3234,Legacy,GARD,,,,,,,,,,,,Leukomelanoderma mental retardation hypotrichosis,TRUE,FALSE,Retired +GARD:3236,Active,Orphanet,ORPHA:2743,Disorder,[Malformation syndrome],Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,[Levic-Stefanovic-Nikolic syndrome],"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.",[165150],,,,,Levic Stefanovic Nikolic syndrome,TRUE,FALSE,Active +GARD:324,Active,Orphanet,ORPHA:2230,Disorder,[Disease],Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,[Salti-Salem syndrome],This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.,,,,,,Slti Salem syndrome,TRUE,FALSE,Active +GARD:3242,Active,Orphanet,ORPHA:1300,Disorder,[Malformation syndrome],Autosomal dominant popliteal pterygium syndrome,"[Facio-genito-popliteal syndrome, Popliteal web syndrome]","A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.",[119500],,,,,Popliteal pterygium syndrome,TRUE,FALSE,Active +GARD:3243,Legacy,GARD,,,,,,,,,,,,Lewy body dementia,FALSE,FALSE,Active +GARD:3244,Active,Orphanet,ORPHA:755,Disorder,[Disease],Leydig cell hypoplasia,"[46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, 46,XY disorder of sex development due to LH resistance or LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency]","A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.",[238320],,,,,Leydig cell hypoplasia,TRUE,FALSE,Active +GARD:3247,Active,Orphanet,ORPHA:525,Disorder,[Disease],Lichen planopilaris,"[Follicular lichen planus, LPP, Lichen follicularis, Lichen planus follicularis]","A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.",,,,,,Lichen planopilaris,TRUE,FALSE,Active +GARD:3248,Active,Orphanet,ORPHA:2390,Disorder,[Disease],Lichtenstein syndrome,,"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.",[246550],,,,,Lichtenstein syndrome,TRUE,FALSE,Active +GARD:3249,Legacy,GARD,,,,,,,,,,,,Iida Kannari syndrome,TRUE,FALSE,Active +GARD:325,Active,Orphanet,ORPHA:95431,Disorder,[Disease],Twin to twin transfusion syndrome,[Feto-fetal transfusion syndrome],"Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated",,,,,,Twin to twin transfusion syndrome,TRUE,FALSE,Active +GARD:3251,Active,Orphanet,ORPHA:2369,Disorder,[Malformation syndrome],Limb body wall complex,"[Body stalk anomaly, LBWC syndrome]","Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.",,,,,,Limb-body wall complex,TRUE,FALSE,Active +GARD:3252,Active,Orphanet,ORPHA:1307,Disorder,[Malformation syndrome],Distal limb deficiencies-micrognathia syndrome,"[10q24 microduplication syndrome, Buttiens-Fryns syndrome]","The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.",[246560],,,,,Limb deficiencies distal with micrognathia,TRUE,FALSE,Active +GARD:3253,Legacy,GARD,,,,,,,,,,,,Limb dystonia,TRUE,FALSE,Retired +GARD:3254,Legacy,GARD,,,,,,,,,,,,Limb reduction defect,TRUE,FALSE,Retired +GARD:3259,Active,Orphanet,ORPHA:2611,Disorder,[Disease],Linear verrucous nevus syndrome,[Linear hamartoma syndrome],"A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.",,,,,,Linear hamartoma syndrome,TRUE,FALSE,Active +GARD:326,Legacy,GARD,,,,,,,,,,,,Cutaneous necrotizing vasculitis,TRUE,FALSE,Retired +GARD:3262,Active,Orphanet,ORPHA:165,Group of disorders,[Clinical group],Neutral lipid storage disease,[Lipidosis with triglyceride storage disease],Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.,,,,,,Lipidosis with triglycerid storage disease,TRUE,FALSE,Active +GARD:3263,Active,Orphanet,ORPHA:2394,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E3 deficiency,"[DLD deficiency, Dihydrolipoamide dehydrogenase deficiency, E3-deficient maple syrup urine disease]","Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.",[246900],,,,,Dihydrolipoamide dehydrogenase deficiency,TRUE,FALSE,Active +GARD:3268,Active,Orphanet,ORPHA:530,Disorder,[Malformation syndrome],Lipoid proteinosis,"[Hyalinosis cutis et mucosae, Urbach-Wiethe disease]","Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.",[247100],,,,,Lipoid proteinosis of Urbach and Wiethe,TRUE,FALSE,Active +GARD:3276,Legacy,GARD,,,,,,,,,,,,Lissencephaly syndrome type 1,TRUE,FALSE,Retired +GARD:3277,Active,Orphanet,ORPHA:51577,Group of disorders,[Clinical group],Cobblestone lissencephaly,[Lissencephaly type 2],"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.",,,,,,Lissencephaly 2,TRUE,FALSE,Active +GARD:3278,Legacy,GARD,,,,,,,,,,,,"Lissencephaly, isolated",TRUE,FALSE,Retired +GARD:328,Legacy,GARD,,,,,,,,,,,,Wandering spleen,TRUE,FALSE,Active +GARD:3281,Legacy,GARD,,,,,,,,,,,,Localized epiphyseal dysplasia,TRUE,FALSE,Retired +GARD:3283,Active,Orphanet,ORPHA:2404,Disorder,[Disease],Loiasis,,"Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).",,,,,,Loiasis,TRUE,FALSE,Active +GARD:3284,Active,Orphanet,ORPHA:101016,Disorder,[Disease],Romano-Ward syndrome,[Romano-Ward long QT syndrome],"A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).","[613695, 600919, 611818, 616247, 603830, 612955, 613688, 611819, 613485, 192500, 611820, 616249, 613693]",,,,,Long QT syndrome 1,TRUE,FALSE,Active +GARD:3285,Active,Orphanet+OMIM,OMIM:613688,Subtype of disorder,[Disease subtype],Long qt syndrome 2,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({7:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613688],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 2,TRUE,FALSE,Active +GARD:3286,Active,Orphanet+OMIM,OMIM:603830,Subtype of disorder,[Disease subtype],Long qt syndrome 3,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({4:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[603830],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 3,TRUE,FALSE,Active +GARD:3287,Active,Orphanet,ORPHA:168,Disorder,[Disease],Loose anagen syndrome,,"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.",[600628],,,,,Loose anagen hair syndrome,TRUE,FALSE,Active +GARD:329,Active,Orphanet,ORPHA:901,Disorder,[Disease],Wells syndrome,[Eosinophilic cellulitis],Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.,,,,,,Wells syndrome,TRUE,FALSE,Active +GARD:3293,Legacy,GARD,,,,,,,,,,,,"Dwarfism, low-birth-weight type with unresponsiveness to growth hormone",TRUE,FALSE,Active +GARD:3295,Active,Orphanet,ORPHA:534,Disorder,[Malformation syndrome],Oculocerebrorenal syndrome of Lowe,"[Lowe disease, Lowe oculo-cerebro-renal dystrophy, Lowe oculo-cerebro-renal syndrome, Lowe oculocerebrorenal dystrophy, Lowe syndrome, OCRL, Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency]","A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.",[309000],,,,,Lowe oculocerebrorenal syndrome,TRUE,FALSE,Active +GARD:3299,Legacy,GARD,,,,,,,,,,,,Lower mesodermal defects sequence,TRUE,FALSE,Active +GARD:330,Active,Orphanet,ORPHA:3455,Disorder,[Malformation syndrome],Wiedemann-Rautenstrauch syndrome,[Neonatal progeroid syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.",[264090],,,,,Neonatal progeroid syndrome,TRUE,FALSE,Active +GARD:3300,Active,Orphanet,ORPHA:2409,Disorder,[Malformation syndrome],Lowry-MacLean syndrome,,"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.",[600252],,,,,Lowry Maclean syndrome,TRUE,FALSE,Active +GARD:3303,Active,Orphanet,ORPHA:2575,Disorder,[Disease],Cystic fibrosis-gastritis-megaloblastic anemia syndrome,[Lubani-Al Saleh-Teebi syndrome],"A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.",[219721],,,,,Lubani Al Saleh Teebi syndrome,TRUE,FALSE,Active +GARD:3304,Legacy,GARD,,,,,,,,,,,,Lucey-Driscoll syndrome,TRUE,FALSE,Active +GARD:3307,Active,Orphanet,ORPHA:776,Disorder,[Malformation syndrome],Lujan-Fryns syndrome,[X-linked intellectual disability with marfanoid habitus],"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.","[300676, 300799, 309520]",,,,,Lujan syndrome,TRUE,FALSE,Active +GARD:3308,Legacy,GARD,,,,,,,,,,,,Lumbar malsegmentation short stature,TRUE,FALSE,Retired +GARD:331,Active,Orphanet,ORPHA:3472,Disorder,[Malformation syndrome],Yunis-Varon syndrome,[Cleidocranial dysplasia-micrognathia-absent thumbs syndrome],"A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.",[216340],,,,,Yunis-Varon syndrome,TRUE,FALSE,Active +GARD:3314,Active,Orphanet,ORPHA:1173,Disorder,[Disease],Cerebellar ataxia-hypogonadism syndrome,"[Gordon-Holmes syndrome, Luteinizing hormone-releasing hormone deficiency with ataxia]","Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).","[212840, 605672]",,,,,Cerebellar ataxia and hypogonadotropic hypogonadism,TRUE,FALSE,Active +GARD:3315,Legacy,GARD,,,,,,,,,,,,Lutz Richner Landolt syndrome,TRUE,FALSE,Retired +GARD:3318,Active,Orphanet,ORPHA:2136,Disorder,[Malformation syndrome],Hennekam syndrome,[Lymphedema-lymphangiectasia-intellectual disability syndrome],"A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.","[616006, 235510, 618154]",,,,,Hennekam syndrome,TRUE,FALSE,Active +GARD:3319,Active,Orphanet,ORPHA:538,Disorder,[Disease],Lymphangioleiomyomatosis,[LAM],"A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).",[606690],,,,,Lymphangioleiomyomatosis,TRUE,FALSE,Active +GARD:332,Active,Orphanet,ORPHA:1555,Disorder,[Malformation syndrome],Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,[Beare-Stevenson cutis gyrata syndrome],"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.",[123790],,,,,Beare-Stevenson cutis gyrata syndrome,TRUE,FALSE,Active +GARD:3321,Active,Orphanet,ORPHA:2035,Disorder,[Disease],Lymphatic filariasis,,"Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.",,,,,,Lymphatic filariasis,TRUE,FALSE,Active +GARD:3324,Active,Orphanet,ORPHA:90186,Disorder,[Disease],Meige disease,"[Hereditary lymphedema type II, Meige lymphedema]","Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.",[153200],,,,,Hereditary lymphedema type II,TRUE,FALSE,Active +GARD:3328,Active,Orphanet+OMIM,OMIM:153100,Subtype of disorder,[Disease subtype],Lymphatic malformation 1,"[lymphedema, hereditary, type i, formerly, Nonne-milroy lymphedema, primary congenital lymphedema, lymphedema, hereditary, ia, formerly, lymphedema, early-onset, milroy disease]","Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {10:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Lymphatic Malformation\n\nPrimary lymphedema is genetically heterogeneous: see also LMPHM2 ({611944}), which maps to chromosome 6q16.2-q22.1; LMPHM3 ({613480}), caused by mutation in the GJC2 gene ({608803}) on chromosome 1q42; LMPHM4 ({615907}), caused by mutation in the VEGFC gene ({601528}) on chromosome 4q34; LMPHM5 ({153200}); LMPHM6 ({616843}), caused by mutation in the PIEZO1 gene ({611184}) on chromosome 16q24; LMPHM7 ({617300}), caused by mutation in the EPHB4 gene ({600011}) on chromosome 7q22; LMPHM8 ({618773}), caused by mutation in the CALCRL gene ({114190}) on chromosome 2q31; LMPHM9 ({619319}), caused by mutation in the CELSR1 gene ({604523}) on chromosome 22q13; LMPHM10 ({610369}), caused by mutation in the ANGPT2 gene ({601922}) on chromosome 8p23; and LMPHM11 ({619401}), caused by mutation in the TIE1 gene ({600222}) on chromosome 1p34.\n\nLymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome ({153400}), which is caused by mutation in the FOXC2 gene ({602402}), and various forms of nonimmune hydrops fetalis (NIHF; see {236750}).",[153100],[79452],[Milroy disease],[7220],,Congenital lymphedema,TRUE,FALSE,Active +GARD:3329,Legacy,GARD,,,,,,,,,,,,Lymphoblastic lymphoma,TRUE,FALSE,Active +GARD:333,Active,Orphanet,ORPHA:33001,Disorder,[Malformation syndrome],Lymphedema-distichiasis syndrome,,"A rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.",[153400],,,,,Lymphedema-distichiasis syndrome,TRUE,FALSE,Active +GARD:3330,Legacy,GARD,,,,,,,,,,,,Angiomatous lymphoid hamartoma,TRUE,FALSE,Retired +GARD:3335,Active,Orphanet,ORPHA:470,Disorder,[Disease],Lysinuric protein intolerance,"[Hyperdibasic aminoaciduria, LPI]",Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.,[222700],,,,,Lysinuric protein intolerance,TRUE,FALSE,Active +GARD:334,Active,Orphanet,ORPHA:41,Disorder,[Disease],Dyschromatosis symmetrica hereditaria,[Acropigmentation of Dohi],"A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.",[127400],,,,,Dyschromatosis symmetrica hereditaria 1,TRUE,FALSE,Active +GARD:3342,Active,Orphanet,ORPHA:156207,Group of disorders,[Category],Macroglossia,,,,,,,,Macroglossia,TRUE,FALSE,Active +GARD:3343,Active,Orphanet,ORPHA:116,Disorder,[Malformation syndrome],Beckwith-Wiedemann syndrome,"[BWS, Exomphalos-macroglossia-gigantism syndrome, Wiedemann-Beckwith syndrome]","Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.",[130650],,,,,Beckwith-Wiedemann syndrome,TRUE,FALSE,Active +GARD:3347,Active,Orphanet,ORPHA:2435,Disorder,[Disease],Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,[Westerhof-Beemer-Cormane syndrome],"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.",,,,,,Macules hereditary congenital hypopigmented and hyperpigmented,TRUE,FALSE,Active +GARD:3348,Active,Orphanet,ORPHA:2728,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, Ohdo type","[BMRS, Ohdo type, Blepharophimosis syndrome, Ohdo type, Ohdo syndrome, Ohdo-Madokoro-Sonoda syndrome]","Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.",[249620],,,,,Madokoro Ohdo Sonoda syndrome,TRUE,FALSE,Active +GARD:335,Legacy,GARD,,,,,,,,,,,,ABCD syndrome,TRUE,FALSE,Retired +GARD:3350,Active,Orphanet,ORPHA:34528,Disorder,[Disease],Autosomal dominant primary hypomagnesemia with hypocalciuria,"[HOMG2, Isolated autosomal dominant hypomagnesemia, Isolated renal magnesium wasting, Renal hypomagnesemia type 2]","A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.",[154020],,,,,Renal hypomagnesemia 2,TRUE,FALSE,Active +GARD:3356,Legacy,GARD,,,,,,,,,,,,Male pseudohermaphroditism due to defective LH molecule,TRUE,FALSE,Active +GARD:336,Active,Orphanet,ORPHA:101003,Disorder,[Disease],Autosomal recessive spastic paraplegia type 23,"[Lison syndrome, SPG23, Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome]","Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.",[270750],,,,,Spastic paraplegia 23,TRUE,FALSE,Active +GARD:3360,Legacy,GARD,,,,,,,,,,,,Malignant germ cell tumor,TRUE,FALSE,Active +GARD:3361,Active,Orphanet,ORPHA:2215,Disorder,[Malformation syndrome],Multiple pterygium-malignant hyperthermia syndrome,"[Froster-Iskenius-Waterson-Hall syndrome, Malignant hyperthermia-arthrogryposis-torticollis syndrome]","An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.",[217150],,,,,Malignant hyperthermia arthrogryposis torticollis,TRUE,FALSE,Active +GARD:3363,Active,Orphanet+OMIM,OMIM:145600,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 1","[hyperthermia of anesthesia, hyperpyrexia, malignant, Mhs]","Susceptibility to malignant hyperthermia (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by {47:Monnier et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia\n\nOther MHS loci include MHS2 ({154275}) on chromosome 17q; MHS3 ({154276}) on chromosome 7q; MHS4 ({600467}) on chromosome 3q; MHS5 ({601887}), caused by mutation in the CACNA1S gene ({114208}) on chromosome 1q32; and MHS6 ({601888}) on chromosome 5p.",[145600],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 1,TRUE,FALSE,Retired +GARD:3364,Active,Orphanet+OMIM,OMIM:154275,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 2",,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease with autosomal dominant inheritance triggered by exposure to commonly used inhalational anaesthetics or depolarizing muscle relaxants (summary by {5:Sudbrak et al., 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[154275],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 2,TRUE,FALSE,Retired +GARD:3365,Active,Orphanet+OMIM,OMIM:154276,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 3",,"Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents (summary by {1:Iles et al., 1994}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia susceptibility, see MHS1 ({145600}).",[154276],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 3,TRUE,FALSE,Retired +GARD:3366,Active,Orphanet+OMIM,OMIM:600467,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 4",,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants (summary by {1:Sudbrak et al., 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[600467],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 4,TRUE,FALSE,Retired +GARD:3367,Active,Orphanet+OMIM,OMIM:601887,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 5",,"Malignant hyperthermia-5 (MHS5) is a muscle disorder in which an episode is triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. A fulminant malignant hyperthermia crisis is characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis (summary by {1:Monnier et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 ({145600}).",[601887],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 5,TRUE,FALSE,Retired +GARD:3368,Active,Orphanet+OMIM,OMIM:601888,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 6",,"Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by {1:Robinson et al., 1997})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[601888],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 6,TRUE,FALSE,Retired +GARD:3369,Legacy,GARD,,,,,,,,,,,,Malignant mesenchymoma,TRUE,FALSE,Active +GARD:3371,Active,Orphanet,ORPHA:943,Disorder,[Disease],Malonic aciduria,[Malonyl-CoA decarboxylase deficiency],Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).,[248360],,,,,Malonyl-CoA decarboxylase deficiency,TRUE,FALSE,Active +GARD:3373,Active,Orphanet,ORPHA:2229,Disorder,[Malformation syndrome],Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"[Cardiogenital syndrome, Malouf syndrome, Najjar syndrome]",This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).,[212112],,,,,Dilated cardiomyopathy with hypergonadotropic hypogonadism,TRUE,FALSE,Active +GARD:3374,Active,Orphanet,ORPHA:90153,Subtype of disorder,[Clinical subtype],Mandibuloacral dysplasia with type A lipodystrophy,,,[248370],,,,,Mandibuloacral dysplasia with type A lipodystrophy,TRUE,FALSE,Active +GARD:3378,Active,Orphanet,ORPHA:1120,Disorder,[Malformation syndrome],Lung agenesis-heart defect-thumb anomalies syndrome,[Mardini-Nyhan syndrome],"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.",[601612],,,,,Manouvrier syndrome,TRUE,FALSE,Active +GARD:338,Legacy,GARD,,,,,,,,,,,,Zerres Rietschel Majewski syndrome,TRUE,FALSE,Active +GARD:3382,Active,Orphanet,ORPHA:2460,Disorder,[Malformation syndrome],Van den Ende-Gupta syndrome,"[Marden-Walker-like syndrome, VDEGS]","Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.",[600920],,,,,Van den Ende Gupta syndrome,TRUE,FALSE,Active +GARD:3387,Legacy,GARD,,,,,,,,,,,,Marfanoid hypermobility syndrome,TRUE,FALSE,Active +GARD:3388,Active,Orphanet,ORPHA:2463,Disorder,[Malformation syndrome],Marfanoid habitus-autosomal recessive intellectual disability syndrome,[Fragoso-Cantú syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.",[248770],,,,,Marfanoid habitus-autosomal recessive intellectual disability syndrome,TRUE,FALSE,Active +GARD:3389,Legacy,GARD,,,,,,,,,,,,Marginal glioneuronal heterotopia,TRUE,FALSE,Active +GARD:339,Legacy,GARD,,,,,,,,,,,,Zazam Sheriff Phillips syndrome,TRUE,FALSE,Active +GARD:3390,Active,Orphanet,ORPHA:444,Disorder,[Disease],Marie Unna hereditary hypotrichosis,"[Hypotrichosis, Marie Unna type, MUHH, Marie Unna congenital hypotrichosis]","A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","[146550, 612841]",,,,,Marie Unna congenital hypotrichosis,TRUE,FALSE,Active +GARD:3393,Legacy,GARD,,,,,,,,,,,,Markel Vikkula Mulliken syndrome,TRUE,FALSE,Active +GARD:3395,Active,Orphanet,ORPHA:2717,Disorder,[Malformation syndrome],Oculotrichoanal syndrome,"[MOTA syndrome, Manitoba oculotrichoanal syndrome, Marles syndrome, Marles-Greenberg-Persaud syndrome]","Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.",[248450],,,,,Manitoba oculotrichoanal syndrome,TRUE,FALSE,Active +GARD:3396,Active,Orphanet,ORPHA:2763,Disorder,[Malformation syndrome],Osteocraniostenosis,"[Gracile bone dysplasia, Osteocraniosplenic syndrome]","Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.",[602361],,,,,Gracile bone dysplasia,TRUE,FALSE,Active +GARD:3397,Legacy,GARD,,,,,,,,,,,,Maroteaux Fonfria syndrome,TRUE,FALSE,Retired +GARD:3399,Active,Orphanet,ORPHA:1423,Disorder,[Malformation syndrome],Lethal recessive chondrodysplasia,[Maroteaux-Stanescu-Cousin syndrome],"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.",,,,,,Maroteaux Stanescu Cousin syndrome,TRUE,FALSE,Active +GARD:340,Legacy,GARD,,,,,,,,,,,,Zadik Barak Levin syndrome,TRUE,FALSE,Active +GARD:3401,Active,Orphanet,ORPHA:2464,Disorder,[Malformation syndrome],"Marfanoid syndrome, De Silva type",,"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.",[223330],,,,,Marphanoid syndrome type De Silva,TRUE,FALSE,Active +GARD:3402,Legacy,GARD,,,,,,,,,,,,Marsden Nyhan Sakati syndrome,TRUE,FALSE,Retired +GARD:3404,Legacy,GARD,,,,,,,,,,,,Martinez Monasterio Pinheiro syndrome,TRUE,FALSE,Retired +GARD:3406,Active,Orphanet,ORPHA:1387,Disorder,[Malformation syndrome],Cataract-intellectual disability-hypogonadism syndrome,[Martsolf syndrome],"This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.",[212720],,,,,Martsolf syndrome,TRUE,FALSE,Active +GARD:3407,Legacy,GARD,,,,,,,,,,,,Massa Casaer Ceulemans syndrome,TRUE,FALSE,Active +GARD:3409,Active,Orphanet,ORPHA:2135,Disorder,[Malformation syndrome],Hennekam-Beemer syndrome,"[Mastocytosis-short stature-deafness syndrome, Mastocytosis-short stature-hearing loss syndrome]","A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.",[248910],,,,,Mastocytosis cutaneous with short stature conductive hearing loss and microtia,TRUE,FALSE,Active +GARD:341,Active,Orphanet,ORPHA:3471,Disorder,[Disease],Young syndrome,[Azoospermia-sinopulmonary infections syndrome],Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.,[279000],,,,,Young syndrome,TRUE,FALSE,Active +GARD:3410,Legacy,GARD,,,,,,,,,,,,Mastroiacovo De Rosa Satta syndrome,TRUE,FALSE,Retired +GARD:3411,Legacy,GARD,,,,,,,,,,,,Mastroiacovo Gambi Segni syndrome,TRUE,FALSE,Retired +GARD:3413,Active,Orphanet,ORPHA:2209,Disorder,[Malformation syndrome],Maternal phenylketonuria,"[Hyperphenylalaninemic embryopathy, Maternal PKU, Maternal hyperphenylalaninemia, Phenylketonuric embryopathy]","A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.",[261600],,,,,Maternal hyperphenylalaninemia,TRUE,FALSE,Active +GARD:3417,Legacy,GARD,,,,,,,,,,,,Matsoukas Liarikos Giannikas syndrome,TRUE,FALSE,Retired +GARD:3418,Active,Orphanet+OMIM,OMIM:125850,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 1","[Mody, type 1, mild juvenile diabetes mellitus]",,[125850],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 1",TRUE,FALSE,Active +GARD:3419,Legacy,GARD,,,,,,,,,,,,Maumenee syndrome,TRUE,FALSE,Retired +GARD:3423,Legacy,GARD,,,,,,,,,,,,McCallum Macadam Johnston syndrome,TRUE,FALSE,Retired +GARD:3424,Active,Orphanet,ORPHA:2471,Disorder,[Malformation syndrome],McDonough syndrome,,"McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.",[248950],,,,,McDonough syndrome,TRUE,FALSE,Active +GARD:3425,Legacy,GARD,,,,,,,,,,,,McDowall syndrome,TRUE,FALSE,Active +GARD:3426,Active,Orphanet,ORPHA:168624,Disorder,[Malformation syndrome],"Familial scaphocephaly syndrome, McGillivray type",[Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome],"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.",[609579],,,,,McGillivray syndrome,TRUE,FALSE,Active +GARD:3427,Active,Orphanet,ORPHA:2473,Disorder,[Malformation syndrome],McKusick-Kaufman syndrome,"[Hydrometrocolpos-postaxial polydactyly syndrome, Kaufman-Mckusick syndrome]","A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome.",[236700],,,,,McKusick Kaufman syndrome,TRUE,FALSE,Active +GARD:3429,Legacy,GARD,,,,,,,,,,,,"Microcephaly, primary autosomal recessive",TRUE,FALSE,Retired +GARD:343,Active,Orphanet,ORPHA:166063,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 4,"[Fatal infantile encephalopathy with olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia, PCH4]","A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.",[225753],,,,,Pontocerebellar hypoplasia type 4,TRUE,FALSE,Active +GARD:3430,Active,Orphanet,ORPHA:2001,Disorder,[Malformation syndrome],Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,[McPherson-Clemens syndrome],"A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.",[601165],,,,,McPherson Clemens syndrome,TRUE,FALSE,Active +GARD:3431,Legacy,GARD,,,,,,,,,,,,McPherson Robertson Cammarano syndrome,TRUE,FALSE,Active +GARD:3432,Active,Orphanet,ORPHA:3097,Disorder,[Malformation syndrome],Meacham syndrome,"[Meacham-Winn-Culler syndrome, Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome]","Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.",[608978],,,,,Meacham Winn Culler syndrome,TRUE,FALSE,Active +GARD:3434,Legacy,GARD,,,,,,,,,,,,Measles,TRUE,FALSE,Active +GARD:3436,Active,Orphanet,ORPHA:564,Disorder,[Malformation syndrome],Meckel syndrome,"[Dysencephalia splanchnocystica, Meckel-Gruber syndrome]","A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.","[603194, 614209, 607361, 615397, 612284, 611561, 613885, 611134, 617562, 249000, 609345]",,,,,Meckel syndrome,TRUE,FALSE,Active +GARD:3438,Active,Orphanet,ORPHA:2476,Disorder,[Malformation syndrome],Dysraphism-cleft lip/palate-limb reduction defects syndrome,[Medeira-Dennis-Donnai syndrome],"A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.",,,,,,Medeira-Dennis-Donnai syndrome,TRUE,FALSE,Active +GARD:3439,Active,Orphanet,ORPHA:1993,Disorder,[Malformation syndrome],Pai syndrome,[Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome],"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.",[155145],,,,,Median cleft of upper lip with polyps of facial skin and nasal mucosa,TRUE,FALSE,Active +GARD:344,Active,Orphanet,ORPHA:2166,Disorder,[Malformation syndrome],Holoprosencephaly-postaxial polydactyly syndrome,[Pseudo-trisomy 13 syndrome],"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).",[264480],,,,,Pseudotrisomy 13 syndrome,TRUE,FALSE,Active +GARD:3440,Active,Orphanet,ORPHA:2699,Disorder,[Malformation syndrome],Median nodule of the upper lip,,Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.,[151630],,,,,Median nodule of the upper lip,TRUE,FALSE,Active +GARD:3441,Legacy,GARD,,,,,,,,,,,,Medrano Roldan syndrome,TRUE,FALSE,Active +GARD:3442,Active,Orphanet,ORPHA:2241,Disorder,[Malformation syndrome],Megacystis-microcolon-intestinal hypoperistalsis syndrome,"[Berdon syndrome, MMIHS, Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome]","Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.","[619351, 249210]",,,,,Megacystis microcolon intestinal hypoperistalsis syndrome,TRUE,FALSE,Active +GARD:3443,Active,Orphanet,ORPHA:2604,Disorder,[Disease],Familial visceral myopathy,"[Familial hollow visceral myopathy, Hereditary hollow visceral myopathy, Megaduodenum and/or megacystis]","Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.","[619350, 155310]",,,,,Megaduodenum and/or megacystis,TRUE,FALSE,Active +GARD:3444,Legacy,GARD,,,,,,,,,,,,Megaepiphyseal dwarfism,TRUE,FALSE,Active +GARD:3445,Active,Orphanet,ORPHA:2478,Disorder,[Disease],Megalencephalic leukoencephalopathy with subcortical cysts,"[MLC, Megalencephalic leukodystrophy, Megalencephaly-cystic leukodystrophy syndrome, Vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap syndrome]","A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.","[604004, 613925, 613926]",,,,,Megalencephalic leukoencephalopathy with subcortical cysts,TRUE,FALSE,Active +GARD:3448,Active,Orphanet,ORPHA:2479,Disorder,[Malformation syndrome],Megalocornea-intellectual disability syndrome,"[MMR syndrome, Neuhäuser syndrome]","Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.",[249310],,,,,Megalocornea-intellectual disability syndrome,TRUE,FALSE,Active +GARD:3449,Active,Orphanet,ORPHA:3038,Disorder,[Malformation syndrome],Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,[Mehes syndrome],"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.",[182875],,,,,Mehes syndrome,TRUE,FALSE,Active +GARD:345,Active,Orphanet,ORPHA:3055,Disorder,[Malformation syndrome],X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,[Young-Hughes syndrome],"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.",,,,,,X-linked intellectual disability - short stature – obesity,TRUE,FALSE,Active +GARD:3450,Legacy,GARD,,,,,,,,,,,,Mehta Lewis Patton syndrome,TRUE,FALSE,Active +GARD:3451,Active,Orphanet,ORPHA:2196,Subtype of disorder,[Clinical subtype],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,"[FHHNC with severe ocular involvement, Hypercalciuria-bilateral macular coloboma syndrome, Meier-Blumberg-Imahorn syndrome]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.",[248190],,,,,Meier Blumberg Imahorn syndrome,TRUE,FALSE,Active +GARD:3454,Legacy,GARD,,,,,,,,,,,,Meigel disease,TRUE,FALSE,Active +GARD:3456,Legacy,GARD,,,,,,,,,,,,Meinecke syndrome,TRUE,FALSE,Retired +GARD:346,Active,Orphanet,ORPHA:3322,Disorder,[Disease],Hoyeraal-Hreidarsson syndrome,[Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome],"An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.","[615190, 613989, 305000, 613990, 616353, 616553]",,,,,Hoyeraal Hreidarsson syndrome,TRUE,FALSE,Active +GARD:3460,Active,Orphanet,ORPHA:618,Disorder,[Disease],Familial melanoma,,Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.,"[613099, 155600, 155601, 613972, 615848, 615134, 609048, 608035, 155700]",,,,,Hereditary melanoma,TRUE,FALSE,Active +GARD:3462,Active,Orphanet,ORPHA:2482,Disorder,[Malformation syndrome],Melhem-Fahl syndrome,,Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.,,,,,,Melhem Fahl syndrome,TRUE,FALSE,Active +GARD:347,Active,Orphanet,ORPHA:2255,Disorder,[Disease],Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,[Yorifuji-Okuno syndrome],"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).",[600001],,,,,Yorifuji Okuno syndrome,TRUE,FALSE,Active +GARD:3470,Legacy,GARD,,,,,,,,,,,,Lysteria monocytoigeneses meningitis,TRUE,FALSE,Retired +GARD:3471,Legacy,GARD,,,,,,,,,,,,Meningocele,TRUE,FALSE,Active +GARD:3472,Legacy,GARD,,,,,,,,,,,,Meningococcemia,TRUE,FALSE,Active +GARD:3473,Legacy,GARD,,,,,,,,,,,,Meningoencephalocele,TRUE,FALSE,Active +GARD:3475,Active,Orphanet,ORPHA:93969,Disorder,[Morphological anomaly],Myelomeningocele,,"A rare neural tube closure defect characterized by protrusion of the spinal cord and meninges from the spinal column into a fluid-filled sac at the location of the defect. Clinical signs are variable, depending on location and severity of the lesion, but may include bladder and bowel dysfunction, hydrocephalus, and/or partial or complete paralysis of the lower limbs, among others.",,,,,,Myelomeningocele,TRUE,FALSE,Active +GARD:3476,Legacy,GARD,,,,,,,,,,,,Mental deficiency-epilepsy-endocrine disorders,TRUE,FALSE,Retired +GARD:3479,Legacy,GARD,,,,,,,,,,,,Mental retardation-polydactyly-uncombable hair,TRUE,FALSE,Retired +GARD:348,Active,Orphanet,ORPHA:876,Disorder,[Disease],Yolk sac tumor,[Endodermal sinus tumor],"A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding.",[273300],,,,,Testicular yolk sac tumor,TRUE,FALSE,Active +GARD:3480,Active,Orphanet,ORPHA:66625,Disorder,[Malformation syndrome],Cerebrooculonasal syndrome,,"Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.",[605627],,,,,Cerebrooculonasal syndrome,TRUE,FALSE,Active +GARD:3481,Legacy,GARD,,,,,,,,,,,,Mental retardation arachnodactyly hypotonia telangiectasia,TRUE,FALSE,Retired +GARD:3482,Active,Orphanet,ORPHA:1236,Disorder,[Malformation syndrome],Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,,"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.",,,,,,Intellectual disability - athetosis - microphthalmia,TRUE,FALSE,Active +GARD:3485,Active,Orphanet,ORPHA:3079,Disorder,[Malformation syndrome],"Intellectual disability, Buenos-Aires type",[Mutchinick syndrome],"Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.",[249630],,,,,Intellectual deficit Buenos-Aires type,TRUE,FALSE,Active +GARD:3486,Legacy,GARD,,,,,,,,,,,,Mental retardation cataracts calcified pinnae myopathy,TRUE,FALSE,Retired +GARD:3487,Legacy,GARD,,,,,,,,,,,,Mental retardation coloboma slimness,TRUE,FALSE,Retired +GARD:3489,Legacy,GARD,,,,,,,,,,,,Mental retardation dysmorphism hypogonadism diabetes,TRUE,FALSE,Retired +GARD:349,Legacy,GARD,,,,,,,,,,,,Neuroaxonal dystrophy renal tubular acidosis,TRUE,FALSE,Active +GARD:3490,Legacy,GARD,,,,,,,,,,,,Mental retardation epilepsy,TRUE,FALSE,Retired +GARD:3491,Active,Orphanet,ORPHA:2139,Disorder,[Malformation syndrome],Hernández-Aguirre Negrete syndrome,[Intellectual disability-epilepsy-bulbous nose syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.",,,,,,Hernández-Aguirre Negrete syndrome,TRUE,FALSE,Active +GARD:3492,Legacy,GARD,,,,,,,,,,,,Mental retardation gynecomastia obesity X-linked,TRUE,FALSE,Retired +GARD:3493,Legacy,GARD,,,,,,,,,,,,Mental retardation hip luxation G6PD variant,TRUE,FALSE,Retired +GARD:3494,Legacy,GARD,,,,,,,,,,,,Mental retardation hypocupremia hypobetalipoproteinemia,TRUE,FALSE,Retired +GARD:3496,Legacy,GARD,,,,,,,,,,,,Mental retardation hypotonia skin hyperpigmentation,TRUE,FALSE,Retired +GARD:3497,Legacy,GARD,,,,,,,,,,,,Mental retardation macrocephaly coarse facies hypotonia,TRUE,FALSE,Retired +GARD:3498,Legacy,GARD,,,,,,,,,,,,Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome,TRUE,FALSE,Retired +GARD:3499,Legacy,GARD,,,,,,,,,,,,Mental retardation microcephaly unusual facies,TRUE,FALSE,Retired +GARD:35,Active,Orphanet,ORPHA:3307,Disorder,[Malformation syndrome],Tetrasomy 18p,[Isochromosome 18p],"Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.",[614290],,,,,Chromosome 18p tetrasomy,TRUE,FALSE,Active +GARD:350,Active,Orphanet,ORPHA:1858,Disorder,[Malformation syndrome],Skeletal dysplasia-epilepsy-short stature syndrome,[Gurrieri-Sammito-Bellussi syndrome],"A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.",[601187],,,,,Gurrieri syndrome,TRUE,FALSE,Active +GARD:3505,Active,Orphanet,ORPHA:404473,Disorder,[Malformation syndrome],Severe intellectual disability-progressive spastic diplegia syndrome,[CTNNB1 syndrome],"Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.",[615075],,,,,Severe intellectual disability-progressive spastic diplegia syndrome,TRUE,FALSE,Active +GARD:3506,Active,Orphanet,ORPHA:3077,Disorder,[Malformation syndrome],X-linked intellectual disability-psychosis-macroorchidism syndrome,"[Lindsay-Burn syndrome, PPM-X]","An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.",[300055],,,,,PPM-X syndrome,TRUE,FALSE,Active +GARD:351,Active,Orphanet,ORPHA:1562,Disorder,[Malformation syndrome],Dacryocystitis-osteopoikilosis syndrome,[Gunal-Seber-Basaran syndrome],"A rare, autosomal dominant, syndromic bone disorder characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).",[166705],,,,,Osteopoikilosis and dacryocystitis,TRUE,FALSE,Active +GARD:3511,Legacy,GARD,,,,,,,,,,,,Mental retardation short stature deafness genital,TRUE,FALSE,Retired +GARD:3514,Active,Orphanet,ORPHA:3074,Disorder,[Malformation syndrome],Intellectual disability-short stature-hypertelorism syndrome,[Stoll-Géraudel-Chauvin syndrome],"Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.",,,,,,Intellectual deficit - short stature - hypertelorism,TRUE,FALSE,Active +GARD:3515,Legacy,GARD,,,,,,,,,,,,Mental retardation short stature microcephaly eye,TRUE,FALSE,Retired +GARD:3519,Active,Orphanet,ORPHA:1240,Disorder,[Disease],Metaphyseal acroscyphodysplasia,"[Bellini syndrome, Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome]","Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.",[250215],,,,,Metaphyseal acroscyphodysplasia,TRUE,FALSE,Active +GARD:352,Legacy,GARD,,,,,,,,,,,,Guizar Vasquez Sanchez Manzano syndrome,TRUE,FALSE,Active +GARD:3520,Active,Orphanet,ORPHA:1436,Disorder,[Malformation syndrome],X-linked skeletal dysplasia-intellectual disability syndrome,[Christian syndrome],"A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.",[309620],,,,,X-linked skeletal dysplasia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:3521,Active,Orphanet+OMIM,OMIM:309580,Subtype of disorder,[Malformation syndrome subtype],"Intellectual disability-hypotonic facies syndrome, x-linked, 1","[xlmr-hypotonic facies syndrome, carpenter-waziri syndrome, smith-fineman-myers syndrome 1, sfms, holmes-gang syndrome, Mental retardation-hypotonic facies syndrome, x-linked, 1, chudley-lowry syndrome]","The term 'X-linked intellectual disability-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women ({1:Abidi et al., 2005}). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.\n\nX-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.",[309580],[847],[Alpha-thalassemia-X-linked intellectual disability syndrome],[5864],,Smith-Fineman-Myers syndrome,TRUE,FALSE,Active +GARD:3523,Active,Orphanet,ORPHA:1891,Disorder,[Malformation syndrome],Intellectual disability-spasticity-ectrodactyly syndrome,[Jancar syndrome],"Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).",[246555],,,,,Intellectual disability-spasticity-ectrodactyly syndrome,TRUE,FALSE,Active +GARD:3524,Active,Orphanet,ORPHA:2557,Disorder,[Malformation syndrome],Mietens syndrome,"[Intellectual disability, Mietens-Weber type]","Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.",[249600],,,,,Mietens-Weber syndrome,TRUE,FALSE,Active +GARD:3529,Legacy,GARD,,,,,,,,,,,,Intellectual deficit unusual facies talipes hand anomalies,TRUE,FALSE,Retired +GARD:353,Legacy,GARD,,,,,,,,,,,,Kozlowski Warren Fisher syndrome,TRUE,FALSE,Active +GARD:3530,Active,Orphanet,ORPHA:3080,Disorder,[Malformation syndrome],"Intellectual disability, Wolff type",[Wolff-Zimmermann syndrome],"Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.",[277990],,,,,Intellectual disability Wolff type,TRUE,FALSE,Retired +GARD:3531,Active,Orphanet,ORPHA:3057,Disorder,[Disease],Monoamine oxidase A deficiency,[Brunner syndrome],"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.",[300615],,,,,Monoamine oxidase A deficiency,TRUE,FALSE,Active +GARD:3532,Legacy,GARD,,,,,,,,,,,,Mental retardation X-linked dysmorphism,TRUE,FALSE,Retired +GARD:3537,Active,Orphanet,ORPHA:1193,Disorder,[Malformation syndrome],Atkin-Flaitz syndrome,"[X-linked intellectual disability, Atkin type]","A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.",[300431],,,,,Atkin syndrome,TRUE,FALSE,Active +GARD:354,Active,Orphanet,ORPHA:2324,Disorder,[Malformation syndrome],Osteopenia-intellectual disability-sparse hair syndrome,[Kaler-Garrity-Stern syndrome],"A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.",[259690],,,,,Osteopenia and sparse hair,TRUE,FALSE,Active +GARD:3542,Legacy,GARD,,,,,,,,,,,,X-linked non-specific intellectual disability,TRUE,FALSE,Active +GARD:3545,Legacy,GARD,,,,,,,,,,,,Merlob Grunebaum Reisner syndrome,TRUE,FALSE,Retired +GARD:3547,Legacy,GARD,,,,,,,,,,,,Diffuse mesangial sclerosis,TRUE,FALSE,Active +GARD:3549,Legacy,GARD,,,,,,,,,,,,Mesomelia,TRUE,FALSE,Active +GARD:3552,Active,Orphanet,ORPHA:2631,Disorder,[Malformation syndrome],Mesomelic dwarfism-cleft palate-camptodactyly syndrome,"[Mesomelic dysplasia, Kozlowski-Reardon type, Mesomelic dysplasia, Reardon type, Reardon-Hall-Slaney syndrome]","A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.",[249710],,,,,Mesomelic dwarfism cleft palate camptodactyly,TRUE,FALSE,Active +GARD:3553,Active,Orphanet,ORPHA:2632,Disorder,[Malformation syndrome],Langer mesomelic dysplasia,"[Mesomelic dwarfism, Langer type]","A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.",[249700],,,,,Langer mesomelic dysplasia,TRUE,FALSE,Active +GARD:3554,Active,Orphanet,ORPHA:2633,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Nievergelt type","[Mesomelic dwarfism, Nievergelt type, Nievergelt syndrome]","A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.",[163400],,,,,Nievergelt syndrome,TRUE,FALSE,Active +GARD:3555,Active,Orphanet,ORPHA:2634,Disorder,[Malformation syndrome],"Mesomelic dwarfism, Reinhardt-Pfeiffer type","[Reinhardt-Pfeiffer mesomelic dysplasia, Reinhardt-Pfeiffer syndrome]",A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.,[191400],,,,,"Ulna and fibula, hypoplasia of",TRUE,FALSE,Active +GARD:3556,Legacy,GARD,,,,,,,,,,,,Mesomelic dysplasia skin dimples,TRUE,FALSE,Active +GARD:3557,Legacy,GARD,,,,,,,,,,,,Thai symphalangism syndrome,TRUE,FALSE,Active +GARD:3559,Active,Orphanet,ORPHA:2498,Disorder,[Morphological anomaly],Syndactyly type 8,[Fusion of metacarpals 4 and 5],"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.",[309630],,,,,Metacarpals 4 and 5 fusion,TRUE,FALSE,Active +GARD:3560,Active,Orphanet,ORPHA:2499,Disorder,[Malformation syndrome],Metachondromatosis,,Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.,[156250],,,,,Metachondromatosis,TRUE,FALSE,Active +GARD:3562,Active,Orphanet,ORPHA:1040,Disorder,[Disease],Metaphyseal anadysplasia,"[Maroteaux-Verloes-Stanescu syndrome, Regressive metaphyseal dysplasia]","A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.","[613073, 602111]",,,,,Metaphyseal anadysplasia,TRUE,FALSE,Active +GARD:3563,Active,Orphanet,ORPHA:2501,Disorder,[Disease],"Metaphyseal chondrodysplasia, Spahr type",,"A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.",[250400],,,,,Metaphyseal chondrodysplasia Spahr type,TRUE,FALSE,Active +GARD:3565,Legacy,GARD,,,,,,,,,,,,"Metaphyseal chondrodysplasia, others",TRUE,FALSE,Active +GARD:3566,Active,Orphanet,ORPHA:2502,Disorder,[Malformation syndrome],Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,[Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome],"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.",[250420],,,,,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,TRUE,FALSE,Active +GARD:3568,Active,Orphanet,ORPHA:2504,Disorder,[Malformation syndrome],Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,,"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.",[156510],,,,,Metaphyseal dysplasia maxillary hypoplasia brachydactyly,TRUE,FALSE,Active +GARD:357,Legacy,GARD,,,,,,,,,,,,Gupta Patton syndrome,TRUE,FALSE,Retired +GARD:3570,Legacy,GARD,,,,,,,,,,,,Metatarsus adductus,FALSE,FALSE,Active +GARD:3571,Active,Orphanet,ORPHA:2635,Disorder,[Disease],Metatropic dysplasia,[Metatropic dwarfism],Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.,[156530],,,,,Metatropic dysplasia,TRUE,FALSE,Active +GARD:3573,Active,Orphanet,ORPHA:1923,Disorder,[Malformation syndrome],Methimazole embryofetopathy,"[MMI/CMZ embryofetopathy, MMI/CMZ embryopathy, Methimazole/carbimazole embryofetopathy, Methimazole/carbimazole embryopathy]","A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.",,,,,,Methimazole antenatal exposure,TRUE,FALSE,Active +GARD:3575,Active,Orphanet,ORPHA:1917,Disorder,[Malformation syndrome],Fetal methylmercury syndrome,"[Methyl mercury antenatal infection, Minamata disease]",A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.,,,,,,Fetal methylmercury syndrome,TRUE,FALSE,Active +GARD:3576,Active,Orphanet,ORPHA:2169,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblE,[Functional methionine synthase deficiency type cblE],,[236270],,,,,"Methylcobalamin deficiency, cbl E complementation type",TRUE,FALSE,Retired +GARD:3577,Active,Orphanet,ORPHA:2170,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblG,[Functional methionine synthase deficiency type cblG],,[250940],,,,,Methylcobalamin deficiency cbl G type,TRUE,FALSE,Active +GARD:3579,Active,Orphanet,ORPHA:26,Disorder,[Disease],Methylmalonic acidemia with homocystinuria,"[Combined defect in adenosylcobalamin and methylcobalamin synthesis, Methylmalonic aciduria with homocystinuria]","A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).","[277410, 614857, 277400, 277380]",,,,,Methylmalonic acidemia with homocystinuria,TRUE,FALSE,Active +GARD:358,Active,Orphanet,ORPHA:2804,Disorder,[Malformation syndrome],W syndrome,[Pallister-W syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.",[311450],,,,,Pallister W syndrome,TRUE,FALSE,Active +GARD:3580,Legacy,GARD,,,,,,,,,,,,Methylmalonic aciduria microcephaly cataract,TRUE,FALSE,Retired +GARD:3582,Active,Orphanet,ORPHA:79283,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblD","[CblD defect, Cobalamin D defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, Methylmalonic aciduria with homocystinuria, type cblD]","cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.",[277410],,,,,Methylmalonic acidemia with homocystinuria type cblD,TRUE,FALSE,Active +GARD:3584,Active,Orphanet,ORPHA:79284,Subtype of disorder,[Clinical subtype],Methylmalonic acidemia with homocystinuria type cblF,"[CblF defect, Cobalamin F defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, Lysosomal membrane cobalamin transporter deficiency, Methylmalonic aciduria with homocystinuria, type cblF]","cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.",[277380],,,,,Methylmalonic acidemia with homocystinuria type cblF,TRUE,FALSE,Active +GARD:3586,Active,Orphanet,ORPHA:27,Disorder,[Disease],Vitamin B12-unresponsive methylmalonic acidemia,"[Methylmalonyl-CoA mutase deficiency, Methylmalonyl-Coenzyme A mutase deficiency, Vitamin B12-unresponsive methylmalonic aciduria]","Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).",[251000],,,,,Methylmalonyl-Coenzyme A mutase deficiency,TRUE,FALSE,Active +GARD:3588,Active,Orphanet,ORPHA:29,Subtype of disorder,[Clinical subtype],Mevalonic aciduria,"[Complete mevalonate kinase deficiency, MVA]","A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.",[610377],,,,,Mevalonic aciduria,TRUE,FALSE,Active +GARD:3589,Active,Orphanet,ORPHA:2505,Disorder,[Disease],Multiple benign circumferential skin creases on limbs,"[CCSF, Circumferential skin creases, Kunze type, Congenital circumferential skin folds, Kunze-Riehm syndrome]","A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.","[156610, 616734]",,,,,Circumferential skin creases Kunze type,TRUE,FALSE,Active +GARD:359,Active,Orphanet,ORPHA:1515,Disorder,[Malformation syndrome],Cranioectodermal dysplasia,"[CED, Sensenbrenner syndrome]","Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).","[218330, 614378, 614099, 617102, 613610]",,,,,Cranioectodermal dysplasia,TRUE,FALSE,Active +GARD:3590,Legacy,GARD,,,,,,,,,,,,Michels Caskey syndrome,TRUE,FALSE,Retired +GARD:3592,Legacy,GARD,,,,,,,,,,,,Mickleson syndrome,TRUE,FALSE,Retired +GARD:3596,Active,Orphanet,ORPHA:2511,Disorder,[Malformation syndrome],Microbrachycephaly-ptosis-cleft lip syndrome,[Richieri Costa-Guion Almeida-Ramos syndrome],"Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.",[268850],,,,,Microbrachycephaly ptosis cleft lip,TRUE,FALSE,Active +GARD:360,Active,Orphanet,ORPHA:921,Disorder,[Malformation syndrome],Abruzzo-Erickson syndrome,"[CHARGE-like syndrome, Cleft palate-coloboma-deafness syndrome, Cleft palate-coloboma-hearing loss syndrome]","An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.",[302905],,,,,Abruzzo-Erickson syndrome,TRUE,FALSE,Active +GARD:3602,Active,Orphanet,ORPHA:2643,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Toriello type",,"A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.",[251190],,,,,Microcephalic primordial dwarfism Toriello type,TRUE,FALSE,Active +GARD:3603,Active,Orphanet,ORPHA:199642,Disorder,[Malformation syndrome],Isolated congenital microcephaly,,"A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.",,,,,,Microcephaly,TRUE,FALSE,Active +GARD:3604,Active,Orphanet,ORPHA:2513,Disorder,[Malformation syndrome],Microcephaly-albinism-digital anomalies syndrome,[Castro Gago-Pombo-Novo syndrome],"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.",[203340],,,,,Microcephaly-albinism-digital anomalies syndrome,TRUE,FALSE,Active +GARD:3605,Active,Orphanet,ORPHA:2514,Subtype of disorder,[Etiological subtype],Autosomal dominant primary microcephaly,,"A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.","[616311, 619179, 617520, 156580, 619180]",,,,,Microcephaly autosomal dominant,TRUE,FALSE,Active +GARD:3607,Active,Orphanet,ORPHA:2523,Disorder,[Malformation syndrome],Microcephaly-brain defect-spasticity-hypernatremia syndrome,[Franek-Bocker-Kahlen syndrome],"Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.",,,,,,Microcephaly brain defect spasticity hypernatremia,TRUE,FALSE,Active +GARD:3609,Active,Orphanet,ORPHA:2515,Disorder,[Malformation syndrome],Microcephaly-cardiomyopathy syndrome,[Winship-Viljoen-Leary syndrome],"Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.",[251220],,,,,Microcephaly-cardiomyopathy,TRUE,FALSE,Active +GARD:361,Active,Orphanet,ORPHA:945,Disorder,[Malformation syndrome],Acalvaria,[Primary acalvaria],"A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.",,,,,,Acalvaria,TRUE,FALSE,Active +GARD:3610,Active,Orphanet,ORPHA:2522,Disorder,[Malformation syndrome],Microcephaly-cervical spine fusion anomalies syndrome,,"Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.",[251250],,,,,Microcephaly cervical spine fusion anomalies,TRUE,FALSE,Active +GARD:3611,Legacy,GARD,,,,,,,,,,,,Microcephaly chorioretinopathy recessive form,TRUE,FALSE,Active +GARD:3614,Legacy,GARD,,,,,,,,,,,,"Microcephaly, corpus callosum dysgenesis and cleft lip-palate",TRUE,FALSE,Active +GARD:3615,Active,Orphanet,ORPHA:2172,Disorder,[Malformation syndrome],Microcephaly-glomerulonephritis-marfanoid habitus syndrome,,"A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992.",[248760],,,,,Microcephaly glomerulonephritis Marfanoid habitus,TRUE,FALSE,Active +GARD:3617,Active,Orphanet,ORPHA:2558,Disorder,[Malformation syndrome],Mikati-Najjar-Sahli syndrome,[Microcephaly-hypergonadotropic hypogonadism-short stature syndrome],"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).",,,,,,Microcephaly hypergonadotropic hypogonadism short stature,TRUE,FALSE,Retired +GARD:362,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia-abnormal morphogenesis,TRUE,FALSE,Active +GARD:3622,Active,Orphanet,ORPHA:2526,Disorder,[Malformation syndrome],Microcephaly-lymphedema-chorioretinopathy syndrome,[MLCRD],"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.",[152950],,,,,"Lymphedema, microcephaly and chorioretinopathy syndrome",TRUE,FALSE,Active +GARD:3627,Active,Orphanet,ORPHA:2528,Disorder,[Malformation syndrome],"Microcephaly-microcornea syndrome, Seemanova type",[Seemanova-Lesny syndrome],"Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.",,,,,,Microcephaly microcornea syndrome Seemanova type,TRUE,FALSE,Active +GARD:3628,Legacy,GARD,,,,,,,,,,,,Microcephaly micropenis convulsions,TRUE,FALSE,Active +GARD:3629,Legacy,GARD,,,,,,,,,,,,Microcephaly microphthalmos blindness,TRUE,FALSE,Active +GARD:363,Active,Orphanet,ORPHA:926,Disorder,[Disease],Acatalasemia,[Catalase deficiency],"A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.",[614097],,,,,Acatalasemia,TRUE,FALSE,Active +GARD:3630,Legacy,GARD,,,,,,,,,,,,Microcephaly nonsyndromal,TRUE,FALSE,Active +GARD:3631,Legacy,GARD,,,,,,,,,,,,Microcephaly pontocerebellar hypoplasia dyskinesia,TRUE,FALSE,Retired +GARD:3632,Legacy,GARD,,,,,,,,,,,,Microcephaly seizures mental retardation heart disorders,TRUE,FALSE,Retired +GARD:3633,Legacy,GARD,,,,,,,,,,,,Microcephaly sparse hair mental retardation seizures,TRUE,FALSE,Retired +GARD:3635,Active,Orphanet,ORPHA:566,Disorder,[Malformation syndrome],Congenital microcoria,[Congenital miosis],"Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.",[156600],,,,,Congenital microcoria,TRUE,FALSE,Active +GARD:3636,Legacy,GARD,,,,,,,,,,,,Microcornea corectopia macular hypoplasia,TRUE,FALSE,Active +GARD:3637,Active,Orphanet,ORPHA:2536,Disorder,[Malformation syndrome],Microcornea-glaucoma-absent frontal sinuses syndrome,,"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.",[156700],,,,,"Microcornea, glaucoma, and absent frontal sinuses",TRUE,FALSE,Active +GARD:3638,Legacy,GARD,,,,,,,,,,,,Microdontia hypodontia short stature,TRUE,FALSE,Active +GARD:364,Active,Orphanet,ORPHA:1134,Disorder,[Malformation syndrome],Isolated arrhinia,[Isolated nose agenesis],"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.",,,,,,Arrhinia,TRUE,FALSE,Active +GARD:3640,Active,Orphanet,ORPHA:2538,Disorder,[Malformation syndrome],Microgastria-limb reduction defect syndrome,,"A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.",[156810],,,,,Microgastria limb reduction defect,TRUE,FALSE,Active +GARD:3642,Legacy,GARD,,,,,,,,,,,,Spondyloepimetaphyseal dysplasia micromelic,TRUE,FALSE,Active +GARD:3643,Active,Orphanet,ORPHA:93328,Subtype of disorder,[Clinical subtype],Autosomal dominant omodysplasia,,,[164745],,,,,Omodysplasia 2,TRUE,FALSE,Active +GARD:3644,Active,Orphanet,ORPHA:98938,Disorder,[Malformation syndrome],Colobomatous microphthalmia,"[MAC, Microphthalmia with colobomatous cyst, Microphthalmia-anophthalmia-coloboma syndrome]",Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.,"[616428, 251505, 300345, 614497, 613703, 615145, 611638, 610092, 601186, 605738]",,,,,Microphthalmia associated with colobomatous cyst,TRUE,FALSE,Active +GARD:3645,Active,Orphanet,ORPHA:139471,Disorder,[Malformation syndrome],Microphthalmia with brain and digit anomalies,"[Bakrania-Ragge syndrome, MCOPS6, Syndromic microphthalmia type 6]","Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.",[607932],,,,,Microphthalmia syndromic 6,TRUE,FALSE,Active +GARD:3647,Legacy,GARD,,,,,,,,,,,,Microphthalmia cataract,TRUE,FALSE,Retired +GARD:365,Active,Orphanet,ORPHA:91,Disorder,[Disease],Aromatase deficiency,[Congenital estrogen deficiency],"A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.",[613546],,,,,Aromatase deficiency,TRUE,FALSE,Active +GARD:3650,Active,Orphanet,ORPHA:2547,Disorder,[Malformation syndrome],Microphthalmia-microtia-fetal akinesia syndrome,[Thomas-Jewett-Raines syndrome],"A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.",,,,,,Microphthalmia microtia fetal akinesia,TRUE,FALSE,Active +GARD:3652,Active,Orphanet,ORPHA:727,Disorder,[Disease],Microscopic polyangiitis,"[MPA, Micropolyangiitis, Microscopic polyarteritis]","A rare inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves.",,,,,,Microscopic polyangiitis,TRUE,FALSE,Active +GARD:3653,Active,Orphanet,ORPHA:2549,Disorder,[Malformation syndrome],Oculoauriculovertebral spectrum with radial defects,"[Hemifacial microsomia-radial defects syndrome, Moeschler-Clarren syndrome]","A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.",[141400],,,,,Microsomia hemifacial radial defects,TRUE,FALSE,Active +GARD:3655,Active,Orphanet,ORPHA:2552,Disorder,[Disease],Microsporidiosis,,Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).,,,,,,Microsporidiosis,TRUE,FALSE,Active +GARD:3657,Legacy,GARD,,,,,,,,,,,,"Microtia, meatal atresia and conductive deafness",TRUE,FALSE,Active +GARD:3659,Active,Orphanet,ORPHA:2556,Disorder,[Malformation syndrome],Microphthalmia with linear skin defects syndrome,"[MCOPS7, MIDAS syndrome, MLS syndrome, Microphthalmia-dermal aplasia-sclerocornea syndrome, Syndromic microphthalmia type 7]","MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.","[309801, 300952, 300887]",,,,,Microphthalmia with linear skin defects syndrome,TRUE,FALSE,Active +GARD:366,Legacy,GARD,,,,,,,,,,,,Arnold Stickler Bourne syndrome,TRUE,FALSE,Active +GARD:3660,Legacy,GARD,,,,,,,,,,,,Midline cleft of lower lip,TRUE,FALSE,Active +GARD:3668,Active,Orphanet,ORPHA:98919,Disorder,[Disease],Miller Fisher syndrome,"[Cranial variant of GBS, Cranial variant of Guillain-Barré syndrome, Fisher syndrome]",Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).,,,,,,Miller-Fisher syndrome,TRUE,FALSE,Active +GARD:3669,Active,Orphanet,ORPHA:531,Disorder,[Malformation syndrome],Miller-Dieker syndrome,"[Lissencephaly due to 17p13.3 deletion, Monosomy 17p13.3, Telomeric deletion 17p]","Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.",[247200],,,,,Miller-Dieker syndrome,TRUE,FALSE,Active +GARD:3670,Legacy,GARD,,,,,,,,,,,,Milner Khallouf Gibson syndrome,TRUE,FALSE,Active +GARD:3671,Active,Orphanet,ORPHA:255210,Disorder,[Disease],Mitochondrial DNA-associated Leigh syndrome,"[MILS, Maternally-inherited Leigh disease, Maternally-inherited infantile subacute necrotizing encephalopathy, mtDNA-associated Leigh syndrome]","Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.",[256000],,,,,Mitochondrial DNA-associated Leigh syndrome,TRUE,FALSE,Active +GARD:3672,Active,Orphanet,ORPHA:90031,Disorder,[Disease],Non-spherocytic hemolytic anemia due to hexokinase deficiency,,"Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.",[235700],,,,,Nonspherocytic hemolytic anemia due to hexokinase deficiency,TRUE,FALSE,Active +GARD:3676,Legacy,GARD,,,,,,,,,,,,Mirror polydactyly segmentation and limbs defects,TRUE,FALSE,Active +GARD:368,Active,Orphanet,ORPHA:2407,Disorder,[Disease],Laryngo-onycho-cutaneous syndrome,"[LOC syndrome, LOGIC syndrome, Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome, Shabbir syndrome]","LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.",[245660],,,,,Laryngoonychocutaneous syndrome,TRUE,FALSE,Active +GARD:3681,Active,Orphanet,ORPHA:1933,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","[Booth-Haworth-Dilling syndrome, Mitochondrial encephalomyopathy-aminoacidopathy syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]","A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.",[612073],,,,,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",TRUE,FALSE,Active +GARD:3682,Active,Orphanet,ORPHA:2597,Disorder,[Disease],Mitochondrial myopathy-lactic acidosis-deafness syndrome,[Mitochondrial myopathy-lactic acidosis-hearing loss syndrome],"A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.",[251950],,,,,Mitochondrial myopathy with lactic acidosis,TRUE,FALSE,Active +GARD:3684,Active,Orphanet,ORPHA:746,Disorder,[Disease],Mitochondrial trifunctional protein deficiency,"[TFP deficiency, TFPD]","A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..",[609015],,,,,Mitochondrial trifunctional protein deficiency,TRUE,FALSE,Active +GARD:3685,Active,Orphanet,ORPHA:1205,Disorder,[Morphological anomaly],Mitral atresia,,"A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).",,,,,,Mitral atresia,TRUE,FALSE,Active +GARD:3687,Active,Orphanet,ORPHA:741,Disorder,[Morphological anomaly],Familial mitral valve prolapse,,"A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.","[610840, 157700, 607829]",,,,,"Mitral valve prolapse, familial, autosomal dominant",TRUE,FALSE,Active +GARD:3688,Active,Orphanet+OMIM,OMIM:157700,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 1,,"Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP ({14:Freed et al., 1999}; {16:Grau et al., 2007}; {9:Delling and Vasan, 2014}).\n\n{16:Grau et al. (2007)} provided a detailed review of the genetics of mitral valve prolapse. {9:Delling and Vasan (2014)} reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.\n\n<Subhead> Genetic Heterogeneity of Familial Mitral Valve Prolapse\n\nThe locus for MVP1 has been mapped to chromosome 16p; the locus for MVP2 ({607829}) has been mapped to chromosome 11p.\n\nMitral valve prolapse-3 (MVP3; {610840}) is caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32.",[157700],[741],[Familial mitral valve prolapse],[3687],,"Mitral valve prolapse, familial, X-linked",TRUE,FALSE,Active +GARD:3689,Legacy,GARD,,,,,,,,,,,,Miura syndrome,TRUE,FALSE,Retired +GARD:369,Active,Orphanet,ORPHA:1435,Disorder,[Malformation syndrome],Xq21 microdeletion syndrome,"[Ayazi syndrome, Del(X)(q21), Monosomy Xq21]","An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.",[303110],,,,,Ayazi syndrome,TRUE,FALSE,Active +GARD:3690,Active,Orphanet,ORPHA:1879,Disorder,[Malformation syndrome],Melorheostosis with osteopoikilosis,"[MSBD syndrome, Mixed sclerosing bone dystrophy]","Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.",,,,,,Melorheostosis with osteopoikilosis,TRUE,FALSE,Active +GARD:3692,Active,Orphanet,ORPHA:178364,Disorder,[Malformation syndrome],Syndromic microphthalmia type 5,"[MCOPS5, Syndromic microphthalmia/anophthalmia due to OTX2 mutation]","Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.",[610125],,,,,Microphthalmia syndromic 5,TRUE,FALSE,Active +GARD:3693,Active,Orphanet,ORPHA:3434,Disorder,[Malformation syndrome],MMEP syndrome,"[MCOPS8, Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome, Syndromic microphthalmia type 8, Viljoen-Smart syndrome]","The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.",[601349],,,,,Microphthalmia syndromic 8,TRUE,FALSE,Active +GARD:3695,Legacy,GARD,,,,,,,,,,,,MN1,FALSE,FALSE,Retired +GARD:3697,Active,Orphanet,ORPHA:552,Disorder,[Disease],MODY,[Maturity-onset diabetes of the young],"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.","[616329, 616511, 125851, 613375, 606392, 610508, 612225, 609812, 606394, 613370, 125850, 600496, 606391]",,,,,Maturity-onset diabetes of the young,TRUE,FALSE,Active +GARD:3698,Active,Orphanet,ORPHA:2560,Disorder,[Malformation syndrome],Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,,A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996.,,,,,,Moebius axonal neuropathy hypogonadism,TRUE,FALSE,Active +GARD:3699,Active,Orphanet,ORPHA:2059,Disorder,[Malformation syndrome],Fryns syndrome,[Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome],"A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.",[229850],,,,,Fryns syndrome,TRUE,FALSE,Active +GARD:37,Active,Orphanet,ORPHA:261875,Group of disorders,[Category],Partial deletion of the short arm of chromosome 3,"[Partial deletion of chromosome 3p, Partial monosomy of chromosome 3p, Partial monosomy of the short arm of chromosome 3]",,,,,,,Partial deletion of the short arm of chromosome 3,TRUE,FALSE,Active +GARD:370,Active,Orphanet,ORPHA:1414,Disorder,[Disease],Cholestasis-lymphedema syndrome,[Aagenaes syndrome],"Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.",[214900],,,,,Aagenaes syndrome,TRUE,FALSE,Active +GARD:3701,Active,Orphanet,ORPHA:2751,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 2,"[Mohr syndrome, OFD2, Oral-facial-digital syndrome type 2]","Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.",[252100],,,,,Orofaciodigital syndrome 2,TRUE,FALSE,Active +GARD:3703,Legacy,GARD,,,,,,,,,,,,"Dwarfism, intellectual disability and eye abnormality",TRUE,FALSE,Retired +GARD:3704,Active,Orphanet,ORPHA:1433,Disorder,[Malformation syndrome],Choroidal atrophy-alopecia syndrome,"[Moloney syndrome, Regional choroidal atrophy and alopecia]","A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.",,,,,,Moloney syndrome,TRUE,FALSE,Active +GARD:3705,Active,Orphanet,ORPHA:99732,Subtype of disorder,[Clinical subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase, MOCOD]",,"[252160, 615501, 252150]",,,,,Molybdenum cofactor deficiency,TRUE,FALSE,Active +GARD:3707,Active,Orphanet,ORPHA:2564,Disorder,[Malformation syndrome],Tetramelic monodactyly,[Sommer-Hines syndrome],"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.",[187510],,,,,Tetramelic monodactyly,TRUE,FALSE,Active +GARD:371,Active,Orphanet,ORPHA:3010,Disorder,[Disease],Qazi-Markouizos syndrome,[Dysharmonic skeletal maturation-muscular fiber disproportion syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.",[600096],,,,,Qazi Markouizos syndrome,TRUE,FALSE,Active +GARD:3711,Active,Orphanet,ORPHA:96148,Disorder,[Malformation syndrome],Distal monosomy 10q,"[Distal deletion 10q, Monosomy 10qter, Telomeric deletion 10q]","Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.",[609625],,,,,Chromosome 10q deletion,TRUE,FALSE,Active +GARD:372,Active,Orphanet,ORPHA:638,Disorder,[Malformation syndrome],Neurofibromatosis-Noonan syndrome,"[NFNS, Neurofibromatosis type 1-Noonan syndrome]","Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).",[601321],,,,,Neurofibromatosis-Noonan syndrome,TRUE,FALSE,Active +GARD:3722,Legacy,GARD,,,,,,,,,,,,Chromosome 14q deletion,TRUE,FALSE,Active +GARD:3726,Legacy,GARD,,,,,,,,,,,,Mosaic monosomy 18,TRUE,FALSE,Active +GARD:373,Active,Orphanet,ORPHA:346,Disorder,[Disease],Quinquaud folliculitis decalvans,,"A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.",,,,,,Quinquaud folliculitis decalvans,TRUE,FALSE,Active +GARD:3730,Legacy,GARD,,,,,,,,,,,,Chromosome 1p deletion,TRUE,FALSE,Active +GARD:3738,Active,Orphanet,ORPHA:250999,Disorder,[Malformation syndrome],1q41q42 microdeletion syndrome,"[Del(1)(q41q42), Monosomy 1q41q42]","1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.",[612530],,,,,Chromosome 1q41-q42 deletion syndrome,TRUE,FALSE,Active +GARD:3739,Legacy,GARD,,,,,,,,,,,,Chromosome 20p deletion,TRUE,FALSE,Active +GARD:374,Active,Orphanet,ORPHA:2835,Disorder,[Malformation syndrome],Pectus excavatum-macrocephaly-dysplastic nails syndrome,[Zori-Stalker-Williams syndrome],"Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.",[600399],,,,,Zori Stalker Williams syndrome,TRUE,FALSE,Active +GARD:3744,Legacy,GARD,,,,,,,,,,,,Chromosome 2q deletion,TRUE,FALSE,Active +GARD:3746,Active,Orphanet,ORPHA:1617,Disorder,[Malformation syndrome],2q24 microdeletion syndrome,"[Del(2)(q24), Monosomy 2q24]","2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.",,,,,,Chromosome 2q24 microdeletion syndrome,TRUE,FALSE,Active +GARD:375,Active,Orphanet,ORPHA:3253,Disorder,[Malformation syndrome],Cleft lip/palate-ectodermal dysplasia syndrome,"[CLPED1, Cleft lip/palate-syndactyly-pili torti syndrome, Syndactyly-ectodermal dysplasia-cleft/lip palate, Zlotogora-Ogur syndrome]","Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.",[225060],,,,,Zlotogora syndrome,TRUE,FALSE,Active +GARD:3750,Active,Orphanet,ORPHA:1620,Disorder,[Malformation syndrome],Distal monosomy 3p,"[3p- syndrome, Distal 3p deletion, Monosomy 3pter, Telomeric monosomy 3p]","Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.",[613792],,,,,Chromosome 3p- syndrome,TRUE,FALSE,Active +GARD:376,Active,Orphanet,ORPHA:931,Disorder,[Morphological anomaly],Acheiropodia,[Acheiropody],"An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.",[200500],,,,,Acheiropody,TRUE,FALSE,Active +GARD:3760,Legacy,GARD,,,,,,,,,,,,Chromosome 6q deletion,TRUE,FALSE,Active +GARD:3764,Active,Orphanet,ORPHA:251056,Disorder,[Malformation syndrome],6q25 microdeletion syndrome,"[Del(6)(q25), Monosomy 6q25]","6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.",[612863],,,,,Chromosome 6q25 microdeletion syndrome,TRUE,FALSE,Active +GARD:3765,Active,Orphanet,ORPHA:495930,Disorder,[Disease],Familial monosomy 7 syndrome,,"A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.","[252270, 619041]",,,,,Chromosome 7q deletion,TRUE,FALSE,Active +GARD:3768,Legacy,GARD,,,,,,,,,,,,Chromosome 8p deletion,TRUE,FALSE,Active +GARD:3769,Active,Orphanet,ORPHA:251071,Disorder,[Malformation syndrome],8p23.1 microdeletion syndrome,"[Del(8)(p23.1), Monosomy 8p23.1]","8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.",,,,,,Chromosome 8p23.1 deletion,TRUE,FALSE,Active +GARD:377,Active,Orphanet,ORPHA:973,Disorder,[Morphological anomaly],"Congenital absence/hypoplasia of fingers excluding thumb, unilateral","[Adactyly of hand, unilateral, Digits 2-5 hypodactyly, unilateral, Digits 2-5 oligodactyly, unilateral]","Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.",[102650],,,,,Adactylia unilateral,TRUE,FALSE,Active +GARD:3770,Legacy,GARD,,,,,,,,,,,,Chromosome 8q deletion,TRUE,FALSE,Active +GARD:3773,Active,Orphanet,ORPHA:261112,Disorder,[Malformation syndrome],Monosomy 9p,"[9p deletion syndrome, 9p- syndrome, Alfi syndrome]","Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.",[158170],,,,,Chromosome 9p deletion,TRUE,FALSE,Active +GARD:3775,Legacy,GARD,,,,,,,,,,,,X-linked susceptibility to autism-4,TRUE,FALSE,Active +GARD:3776,Legacy,GARD,,,,,,,,,,,,Chromosome Xq28 deletion syndrome,TRUE,FALSE,Retired +GARD:3777,Legacy,GARD,,,,,,,,,,,,Montefiore syndrome,TRUE,FALSE,Retired +GARD:378,Active,Orphanet,ORPHA:2316,Disorder,[Malformation syndrome],Johnson neuroectodermal syndrome,"[Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome, Alopecia-anosmia-deafness-hypogonadism syndrome, Johnson-McMillin syndrome]","Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.",[147770],,,,,Johnson neuroectodermal syndrome,TRUE,FALSE,Active +GARD:3784,Legacy,GARD,,,,,,,,,,,,Morillo-Cucci-Passarge syndrome,TRUE,FALSE,Retired +GARD:3785,Active,Orphanet,ORPHA:309297,Subtype of disorder,[Clinical subtype],Mucopolysaccharidosis type 4A,"[GALNS deficiency, Galactosamine-6-sulfatase deficiency, MPS4A, MPSIVA, Morquio disease type A, Mucopolysaccharidosis type IVA, N-acetylgalactosamine-6-sulfate sulfatase deficiency]",,[253000],,,,,Mucopolysaccharidosis type IVA,TRUE,FALSE,Active +GARD:3786,Active,Orphanet,ORPHA:309310,Subtype of disorder,[Clinical subtype],Mucopolysaccharidosis type 4B,"[Beta-D-galactosidase deficiency, MPS4B, MPSIVB, Morquio disease type B, Mucopolysaccharidosis type IVB]",,[253010],,,,,Morquio syndrome B,TRUE,FALSE,Active +GARD:3787,Active,Orphanet,ORPHA:97282,Disorder,[Disease],VIPoma,"[Diarrheogenic islet cell tumor, Pancreatic cholera, VIP-secreting tumor, Verner-Morrison syndrome, WDHA syndrome, Watery diarrhea-hypokalemia-achlorhydria syndrome]","VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).",,,,,,WDHA syndrome,TRUE,FALSE,Active +GARD:3788,Active,Orphanet,ORPHA:2570,Disorder,[Malformation syndrome],Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,[Morse-Rawnsley-Sargent syndrome],"A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.",[306990],,,,,Morse-Rawnsley-Sargent syndrome,TRUE,FALSE,Active +GARD:379,Active,Orphanet,ORPHA:3033,Disorder,[Malformation syndrome],Renal tubular dysgenesis,"[Primitive renal tubule syndrome, Renotubular dysgenesis]","A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.",[267430],,,,,Renal tubular dysgenesis,TRUE,FALSE,Active +GARD:3791,Active,Orphanet,ORPHA:2400,Disorder,[Disease],Peripheral motor neuropathy-dysautonomia syndrome,[Lisker-Garcia-Ramos syndrome],"Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.",[252320],,,,,Motor neuropathy peripheral with dysautonomia,TRUE,FALSE,Retired +GARD:3792,Legacy,GARD,,,,,,,,,,,,Motor sensory neuropathy type 1 aplasia cutis congenita,TRUE,FALSE,Retired +GARD:3793,Active,Orphanet,ORPHA:3347,Disorder,[Clinical syndrome],Mounier-Kühn syndrome,"[Congenital tracheobronchomegaly, Idiopathic tracheobronchomegaly, Tracheobronchomegaly]",A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.,[275300],,,,,Mounier-Kuhn syndrome,TRUE,FALSE,Active +GARD:3795,Active,Orphanet,ORPHA:2572,Disorder,[Disease],Spastic ataxia-corneal dystrophy syndrome,"[Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome, Spastic ataxia-ocular anomalies syndrome]","Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.",[271320],,,,,Mousa Al din Al Nassar syndrome,TRUE,FALSE,Active +GARD:380,Active,Orphanet,ORPHA:1571,Disorder,[Malformation syndrome],Knobloch syndrome,"[Knobloch-Layer syndrome, Retinal detachment-occipital encephalocele syndrome]","A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.",[267750],,,,,Knobloch syndrome,TRUE,FALSE,Active +GARD:3800,Legacy,GARD,,,,,,,,,,,,MSBD syndrome,TRUE,FALSE,Active +GARD:3806,Active,Orphanet,ORPHA:577,Disorder,[Disease],Mucolipidosis type III,[Pseudo-Hurler polydystrophy],"A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).","[252605, 252600]",,,,,Mucolipidosis III alpha/beta,TRUE,FALSE,Active +GARD:3807,Active,Orphanet,ORPHA:581,Disorder,[Disease],Mucopolysaccharidosis type 3,"[MPS3, MPSIII, Mucopolysaccharidosis type III, Sanfilippo disease]",Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.,"[252900, 252940, 252920, 252930]",,,,,Mucopolysaccharidosis type III,TRUE,FALSE,Active +GARD:381,Active,Orphanet,ORPHA:1129,Disorder,[Malformation syndrome],Arachnodactyly-abnormal ossification-intellectual disability syndrome,[Kosztolanyi syndrome],"A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.",,,,,,Kosztolanyi syndrome,TRUE,FALSE,Active +GARD:3812,Legacy,GARD,,,,,,,,,,,,Muller Barth Menger syndrome,TRUE,FALSE,Active +GARD:3818,Active,Orphanet,ORPHA:2774,Disorder,[Malformation syndrome],Multicentric carpo-tarsal osteolysis with or without nephropathy,[Idiopathic multicentric osteolysis with or without nephropathy],"A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.",[166300],,,,,Multicentric osteolysis nephropathy,TRUE,FALSE,Retired +GARD:3820,Legacy,GARD,,,,,,,,,,,,Multifocal motor neuropathy with conduction block (retired),TRUE,FALSE,Retired +GARD:3824,Active,Orphanet,ORPHA:148,Group of disorders,[Clinical group],Multiple carboxylase deficiency,[MCD],"A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.",,,,,,Multiple carboxylase deficiency,TRUE,FALSE,Active +GARD:3826,Legacy,GARD,,,,,,,,,,,,"Multiple congenital anomalies mental retardation, growth failure and cleft lip palate",TRUE,FALSE,Retired +GARD:3829,Active,Orphanet,ORPHA:652,Disorder,[Disease],Multiple endocrine neoplasia type 1,"[MEN1, Wermer syndrome]","A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.",[131100],,,,,Multiple endocrine neoplasia type 1,TRUE,FALSE,Active +GARD:383,Active,Orphanet,ORPHA:53,Disorder,[Malformation syndrome],Albers-Schönberg osteopetrosis,[Osteopetrosis autosomal dominant type 2],A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).,[166600],,,,,Osteopetrosis autosomal dominant type 2,TRUE,FALSE,Active +GARD:3830,Active,Orphanet,ORPHA:653,Disorder,[Disease],Multiple endocrine neoplasia type 2,[MEN2],A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.,"[162300, 155240, 171400]",,,,,Multiple endocrine neoplasia type 2,TRUE,FALSE,Active +GARD:3831,Legacy,GARD,,,,,,,,,,,,Multiple fibrofolliculoma familial,TRUE,FALSE,Active +GARD:3833,Legacy,GARD,,,,,,,,,,,,Multiple joint dislocations metaphyseal dysplasia,TRUE,FALSE,Retired +GARD:3834,Active,Orphanet,ORPHA:33108,Disorder,[Malformation syndrome],Lethal multiple pterygium syndrome,"[Autosomal recessive lethal multiple pterygium syndrome, LMPS]","A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.",[253290],,,,,Multiple pterygium syndrome lethal type,TRUE,FALSE,Active +GARD:3836,Active,Orphanet,ORPHA:3237,Disorder,[Malformation syndrome],Multiple synostoses syndrome,"[Deafness-Hermann type symphalangism syndrome, Facio-audio-symphalangism, Hearing loss-Hermann type symphalangism syndrome, Symphalangism-brachydactyly syndrome, WL syndrome]","Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","[186500, 610017, 612961]",,,,,Multiple synostoses syndrome 1,TRUE,FALSE,Active +GARD:3837,Legacy,GARD,,,,,,,,,,,,Multiple vertebral anomalies unusual facies,TRUE,FALSE,Retired +GARD:384,Active,Orphanet,ORPHA:978,Disorder,[Malformation syndrome],ADULT syndrome,"[Acro-dermato-ungual-lacrimal-tooth syndrome, Pigment anomaly-ectrodactyly-hypodontia syndrome]","A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.",[103285],,,,,ADULT syndrome,TRUE,FALSE,Active +GARD:3842,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy, congenital, infantile with cataract and hypogonadism",TRUE,FALSE,Active +GARD:3843,Active,Orphanet,ORPHA:258,Disorder,[Malformation syndrome],Laminin subunit alpha 2-related congenital muscular dystrophy,"[CMD1A, Congenital muscular dystrophy due to laminin alpha2 deficiency, Congenital muscular dystrophy type 1A, MDC1A, Merosin-negative congenital muscular dystrophy]","Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.","[607855, 618138]",,,,,Congenital muscular dystrophy type 1A,TRUE,FALSE,Active +GARD:3844,Active,Orphanet,ORPHA:1878,Disorder,[Disease],TRIM32-related limb-girdle muscular dystrophy R8,"[Autosomal recessive limb-girdle muscular dystrophy type 2H, LGMD due to TRIM32 deficiency, LGMD type 2H, LGMD2H, Limb-girdle muscular dystrophy due to TRIM32 deficiency, Limb-girdle muscular dystrophy type 2H, Sarcotubular myopathy, TRIM32-related LGMD R8]","A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.",[254110],,,,,Limb-girdle muscular dystrophy type 2H,TRUE,FALSE,Active +GARD:3845,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy limb girdle type 2A, Erb type",TRUE,FALSE,Active +GARD:385,Active,Orphanet,ORPHA:3473,Disorder,[Malformation syndrome],Zimmermann-Laband syndrome,"[Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, Laband syndrome]","A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.","[135500, 618658, 616455]",,,,,Laband syndrome,TRUE,FALSE,Active +GARD:3851,Active,Orphanet,ORPHA:119,Disorder,[Disease],Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,"[Autosomal recessive limb-girdle muscular dystrophy type 2E, Beta-sarcoglycan-related LGMD R4, Beta-sarcoglycanopathy, LGMD due to beta-sarcoglycan deficiency, LGMD type 2E, LGMD2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2E]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.",[604286],,,,,Limb-girdle muscular dystrophy type 2E,TRUE,FALSE,Active +GARD:3854,Legacy,GARD,,,,,,,,,,,,Muscular dystrophy white matter spongiosis,TRUE,FALSE,Active +GARD:3855,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy, congenital, merosin-positive",TRUE,FALSE,Active +GARD:3856,Active,Orphanet,ORPHA:64755,Disorder,[Disease],Becker nevus syndrome,[Pigmentary hairy epidermal nevus],"A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.",[604919],,,,,Becker nevus syndrome,TRUE,FALSE,Active +GARD:3857,Legacy,GARD,,,,,,,,,,,,Muscular fibrosis multifocal obstructed vessels,TRUE,FALSE,Active +GARD:3858,Active,Orphanet,ORPHA:715,Disorder,[Disease],Glycogen storage disease due to muscle phosphorylase kinase deficiency,"[GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type 9E, GSD type IXd, GSD type IXe, Glycogen storage disease type 9D, Glycogen storage disease type 9E, Glycogen storage disease type IXd, Glycogen storage disease type IXe, Glycogenosis due to muscle phosphorylase kinase deficiency, Glycogenosis type 9D, Glycogenosis type 9E, Glycogenosis type IXd, Glycogenosis type IXe]",Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.,[300559],,,,,Muscular phosphorylase kinase deficiency,TRUE,FALSE,Active +GARD:386,Active,Orphanet,ORPHA:3301,Disorder,[Malformation syndrome],Tetraamelia-multiple malformations syndrome,[Zimmer phocomelia],"An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.","[273395, 618021]",,,,,Tetraamelia-multiple malformations syndrome,TRUE,FALSE,Active +GARD:3860,Legacy,GARD,,,,,,,,,,,,Myalgia eosinophilia associated with tryptophan,TRUE,FALSE,Retired +GARD:3862,Active,Orphanet,ORPHA:2583,Disorder,[Disease],Mycetoma,[Madura foot],Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.,,,,,,Mycetoma,TRUE,FALSE,Active +GARD:3863,Active,Orphanet,ORPHA:2584,Disorder,[Disease],Classic mycosis fungoides,"[Mycosis fungoides, Alibert-Bazin type]","Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.",[254400],,,,,Mycosis fungoides,TRUE,FALSE,Active +GARD:3865,Active,Orphanet,ORPHA:2585,Disorder,[Malformation syndrome],Ataxia-pancytopenia syndrome,[Myelocerebellar disorder],"A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.",[159550],,,,,Myelocerebellar disorder,TRUE,FALSE,Active +GARD:3867,Legacy,GARD,,,,,,,,,,,,Myeloid splenomegaly,TRUE,FALSE,Active +GARD:3868,Active,Orphanet,ORPHA:2587,Disorder,[Disease],Myeloperoxidase deficiency,[MPO deficiency],"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.",[254600],,,,,Myeloperoxidase deficiency,TRUE,FALSE,Active +GARD:387,Active,Orphanet,ORPHA:911,Disorder,[Disease],Combined immunodeficiency due to ZAP70 deficiency,[Zeta-associated-protein 70 deficiency],"A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.",[269840],,,,,ZAP-70 deficiency,TRUE,FALSE,Active +GARD:3872,Active,Orphanet,ORPHA:280620,Disorder,[Disease],Progressive myoclonic epilepsy type 6,"[EPM6, GOSR2-related progressive myoclonus ataxia, North Sea progressive myoclonus epilepsy, PME type 6, Progressive myoclonus epilepsy type 6]","A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.",[614018],,,,,GOSR2-related progressive myoclonus ataxia,TRUE,FALSE,Active +GARD:3873,Active,Orphanet,ORPHA:2589,Disorder,[Malformation syndrome],Myoclonus-cerebellar ataxia-deafness syndrome,[Myoclonus-cerebellar ataxia-hearing loss syndrome],"This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.",[159800],,,,,Myoclonus cerebellar ataxia deafness,TRUE,FALSE,Active +GARD:3875,Active,Orphanet,ORPHA:2590,Disorder,[Disease],Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,"[Hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic-Rivera syndrome, SMA-PME]",Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.,[159950],,,,,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,TRUE,FALSE,Active +GARD:3876,Active,Orphanet,ORPHA:308,Disorder,[Malformation syndrome],Progressive myoclonic epilepsy type 1,"[EPM1, Progressive myoclonus epilepsy type 1, ULD, Unverricht-Lundborg disease]","A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.","[254800, 612437, 310370]",,,,,Unverricht-Lundborg disease,TRUE,FALSE,Active +GARD:3878,Legacy,GARD,,,,,,,,,,,,Myoglobinuria dominant form,TRUE,FALSE,Retired +GARD:3879,Active,Orphanet+OMIM,OMIM:550500,Subtype of disorder,[Disease subtype],"Myoglobinuria, recurrent",,,[550500],[99845],[Genetic recurrent myoglobinuria],[16916],,Myoglobinuria recurrent,TRUE,FALSE,Active +GARD:388,Legacy,GARD,,,,,,,,,,,,"Brachial amelia, forebrain defects and facial clefts",TRUE,FALSE,Retired +GARD:3881,Active,Orphanet,ORPHA:2596,Disorder,[Disease],Myopathy and diabetes mellitus,,"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.",[500002],,,,,Mitochondrial myopathy with diabetes,TRUE,FALSE,Active +GARD:3883,Legacy,GARD,,,,,,,,,,,,Myopathy congenital multicore with external ophthalmoplegia,TRUE,FALSE,Retired +GARD:3884,Active,Orphanet,ORPHA:2593,Disorder,[Disease],Tubular aggregate myopathy,,"A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.","[160565, 615883]",,,,,Tubular aggregate myopathy,TRUE,FALSE,Active +GARD:3885,Active,Orphanet,ORPHA:2598,Disorder,[Disease],Mitochondrial myopathy and sideroblastic anemia,"[MLASA, Myopathy, lactic acidosis and sideroblastic anemia]","Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.","[600462, 500011, 613561]",,,,,Mitochondrial myopathy and sideroblastic anemia,TRUE,FALSE,Active +GARD:3886,Legacy,GARD,,,,,,,,,,,,Myopathy growth and mental retardation hypospadias,TRUE,FALSE,Retired +GARD:3888,Legacy,GARD,,,,,,,,,,,,Myopathy mitochondrial cataract,TRUE,FALSE,Retired +GARD:3889,Active,Orphanet,ORPHA:1358,Disorder,[Malformation syndrome],Carey-Fineman-Ziter syndrome,[Myopathy-Moebius-Robin syndrome],"Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.",[254940],,,,,Carey-Fineman-Ziter syndrome,TRUE,FALSE,Active +GARD:389,Legacy,GARD,,,,,,,,,,,,Wegmann Jones Smith syndrome,TRUE,FALSE,Retired +GARD:3892,Active,Orphanet,ORPHA:25980,Disorder,[Disease],X-linked myopathy with excessive autophagy,[XMEA],X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.,[310440],,,,,X-linked myopathy with excessive autophagy,TRUE,FALSE,Active +GARD:3896,Active,Orphanet,ORPHA:611,Disorder,[Disease],Inclusion body myositis,"[IBM, Sporadic inclusion body myositis, sIBM]","A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features.",[147421],,,,,Inclusion body myositis,TRUE,FALSE,Active +GARD:3897,Legacy,GARD,,,,,,,,,,,,Myotonia mental retardation skeletal anomalies,TRUE,FALSE,Retired +GARD:39,Active,Orphanet,ORPHA:3466,Disorder,[Disease],WT limb-blood syndrome,,A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.,[194350],,,,,WT limb blood syndrome,TRUE,FALSE,Active +GARD:390,Active,Orphanet,ORPHA:2790,Disorder,[Malformation syndrome],"Endosteal hyperostosis, Worth type","[Autosomal dominant osteosclerosis, Worth type, Worth syndrome]","Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.",[144750],,,,,Worth type autosomal dominant osteosclerosis,TRUE,FALSE,Active +GARD:3900,Legacy,GARD,,,,,,,,,,,,Myxoma-spotty pigmentation-endocrine overactivity,TRUE,FALSE,Retired +GARD:3902,Active,Orphanet,ORPHA:2608,Disorder,[Malformation syndrome],N syndrome,,"A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.",[310465],,,,,N syndrome,TRUE,FALSE,Active +GARD:3903,Active,Orphanet,ORPHA:79281,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 3,"[NAGA deficiency type 3, Schindler disease type 3]","A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.",[609241],,,,,N-acetyl-alpha-D-galactosaminidase deficiency type III,TRUE,FALSE,Active +GARD:3904,Active,Orphanet,ORPHA:647,Disorder,[Malformation syndrome],Nijmegen breakage syndrome,"[AT V1, Ataxia-telangiectasia, variant 1, Berlin breakage syndrome, Immunodeficiency-microcephaly-chromosomal instability syndrome, Microcephaly-immunodeficiency-lymphoid malignancy syndrome, NBS, Seemanova syndrome type 2]","A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.",[251260],,,,,Nijmegen breakage syndrome,TRUE,FALSE,Active +GARD:3908,Active,Orphanet,ORPHA:2609,Disorder,[Disease],Isolated complex I deficiency,"[Isolated NADH-CoQ reductase deficiency, Isolated NADH-coenzyme Q reductase deficiency, Isolated NADH-ubiquinone reductase deficiency, Isolated mitochondrial respiratory chain complex I deficiency]","Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).","[301020, 301021, 618236, 618237, 618238, 618230, 252010, 618253, 618232, 618233, 618225, 619170, 618234, 619272, 618226, 618228, 618250, 618229, 618251, 618222, 618245, 618224, 618246, 618776, 618240, 619003, 618241, 618242]",,,,,Mitochondrial complex I deficiency,TRUE,FALSE,Active +GARD:3909,Active,Orphanet+OMIM,OMIM:250700,Subtype of disorder,[Disease subtype],Methemoglobin reductase deficiency,"[tpnh-methemoglobin reductase deficiency, Nadph-dependent methemoglobin reductase deficiency]",,[250700],[621],[Hereditary methemoglobinemia],[2659],,NADH cytochrome B5 reductase deficiency,TRUE,FALSE,Active +GARD:391,Active,Orphanet,ORPHA:2777,Disorder,[Malformation syndrome],Osteomesopyknosis,[Axial osteosclerosis],Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.,[166450],,,,,Osteomesopyknosis,TRUE,FALSE,Active +GARD:3912,Active,Orphanet,ORPHA:69087,Disorder,[Disease],Naegeli-Franceschetti-Jadassohn syndrome,"[NFJ syndrome, Naegeli syndrome]","Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.",[161000],,,,,Naegeli syndrome,TRUE,FALSE,Active +GARD:3916,Active,Orphanet+OMIM,OMIM:256040,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 1,"[Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, autoinflammation, lipodystrophy, and dermatosis syndrome, jmp syndrome, nakajo-nishimura syndrome, joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy]","This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by {1:Agarwal et al., 2010}; {6:Kitamura et al., 2011}; {2:Arima et al., 2011}).\n\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both {9:Nakajo (1939)} and {10:Nishimura et al. (1950)} contributed to the original phenotypic descriptions.\n\n<Subhead> Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome\n\nSee also PRAAS2 ({618048}), caused by mutation in the POMP gene ({613386}) on chromosome 13q12; PRAAS3 ({617591}), caused by mutation in the PSMB4 gene ({602177}) on chromosome 1q21; PRAAS4 ({619183}), caused by mutation in the PSMG2 gene ({609702}) on chromosome 18p11; and PRAAS5 ({619175}), caused by mutation in the PSMB10 gene ({176847}) on chromosome 16q22.",[256040],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,Nakajo Nishimura syndrome,TRUE,FALSE,Active +GARD:3917,Legacy,GARD,,,,,,,,,,,,Nakajo syndrome,TRUE,FALSE,Active +GARD:3919,Active,Orphanet,ORPHA:231671,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type IB,"[Congenital IGHD type IB, Congenital isolated GH deficiency type IB, Congenital isolated growth hormone deficiency type IB]",,"[612781, 618157]",,,,,Isolated growth hormone deficiency type 1B,TRUE,FALSE,Active +GARD:392,Legacy,GARD,,,,,,,,,,,,Weinstein Kliman Scully syndrome,TRUE,FALSE,Retired +GARD:3921,Active,Orphanet,ORPHA:231692,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type III,"[Congenital IGHD type III, Congenital isolated GH deficiency type III, Congenital isolated growth hormone deficiency type III, X-linked IGHD, X-linked isolated growth hormone deficiency]",,"[300123, 307200]",,,,,Isolated growth hormone deficiency type 3,TRUE,FALSE,Active +GARD:3924,Active,Orphanet,ORPHA:181393,Group of disorders,[Category],Growth hormone insensitivity syndrome,"[GHIS, Short stature due to a defect in growth hormone receptor or post-receptor pathway]","Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).",,,,,,Growth hormone insensitivity with immunodeficiency,TRUE,FALSE,Active +GARD:3927,Active,Orphanet,ORPHA:2399,Disorder,[Malformation syndrome],Nasopalpebral lipoma-coloboma syndrome,,"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.",[167730],,,,,Nasopalpebral lipoma coloboma syndrome,TRUE,FALSE,Active +GARD:3928,Active,Orphanet,ORPHA:99811,Subtype of disorder,[Etiological subtype],Neuronal intestinal pseudoobstruction,,Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.,[243185],,,,,"Natal teeth, intestinal pseudoobstruction and patent ductus",TRUE,FALSE,Active +GARD:3929,Active,Orphanet,ORPHA:2663,Disorder,[Malformation syndrome],Nathalie syndrome,"[Deafness-cataract-skeletal anomalies syndrome, Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome]","A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.",[255990],,,,,Nathalie syndrome,TRUE,FALSE,Active +GARD:393,Active,Orphanet,ORPHA:879,Disorder,[Disease],Tungiasis,,"Tungiasis is a parasitic skin disease caused by the female sand flea Tunga penetrans. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.",,,,,,Tungiasis,TRUE,FALSE,Active +GARD:3931,Active,Orphanet,ORPHA:85408,Disorder,[Disease],Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,"[Juvenile polyarthritis without rheumatoid factor, Juvenile rheumatoid factor-negative polyarthritis, Rheumatoid factor-negative polyarticular JIA]",A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.,,,,,,Rheumatoid factor-negative juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:3934,Legacy,GARD,,,,,,,,,,,,Neonatal ovarian cyst,TRUE,FALSE,Active +GARD:3936,Active,Orphanet,ORPHA:2849,Disorder,[Malformation syndrome],Perlman syndrome,[Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome],"Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.",[267000],,,,,Perlman syndrome,TRUE,FALSE,Active +GARD:3939,Legacy,GARD,,,,,,,,,,,,Nephronophthisis familial adult spastic quadriparesis,TRUE,FALSE,Retired +GARD:394,Active,Orphanet,ORPHA:3268,Disorder,[Malformation syndrome],Radioulnar synostosis-microcephaly-scoliosis syndrome,"[Giuffré-Tsukahara syndrome, Tsukahara syndrome]","Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.",[603438],,,,,Radioulnar synostosis-microcephaly-scoliosis syndrome,TRUE,FALSE,Active +GARD:3940,Active,Orphanet,ORPHA:2668,Disorder,[Malformation syndrome],Nephropathy-deafness-hyperparathyroidism syndrome,"[Edwards-Patton-Dilly syndrome, Nephropathy-hearing loss-hyperparathyroidism syndrome]","A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.",[256120],,,,,"Nephropathy, deafness, and hyperparathyroidism",TRUE,FALSE,Active +GARD:3942,Legacy,GARD,,,,,,,,,,,,Nephropathy familial with hyperuricemia,TRUE,FALSE,Retired +GARD:3943,Active,Orphanet,ORPHA:2669,Disorder,[Malformation syndrome],Nephrosis-deafness-urinary tract-digital malformations syndrome,"[Braun-Bayer syndrome, Nephrosis-hearing loss-urinary tract-digital malformations syndrome]","A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.",[256200],,,,,Nephrosis deafness urinary tract digital malformation,TRUE,FALSE,Active +GARD:3945,Legacy,GARD,,,,,,,,,,,,Nephrotic syndrome ocular anomalies,TRUE,FALSE,Active +GARD:3946,Active,Orphanet,ORPHA:656,Disorder,[Disease],Genetic steroid-resistant nephrotic syndrome,"[Familial idiopathic steroid-resistant nephrotic syndrome, Genetic SRNS, Hereditary steroid-resistant nephrotic syndrome]","A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","[618177, 615244, 616892, 619201, 618178, 616893, 301028, 600995, 603965, 256370, 615573, 618179, 616220, 616002, 616032, 610725, 613237, 603278, 614196, 619155, 614131, 616730, 615861, 618176, 612551, 607832]",,,,,Genetic steroid-resistant nephrotic syndrome,TRUE,FALSE,Active +GARD:3947,Active,Orphanet,ORPHA:657,Group of disorders,[Clinical group],Congenital isolated hyperinsulinism,"[PHHI, Persistent hyperinsulinemic hypoglycemia of infancy]","A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.",,,,,,Congenital hyperinsulinism,TRUE,FALSE,Active +GARD:3948,Active,Orphanet,ORPHA:3350,Disorder,[Disease],Tremor-nystagmus-duodenal ulcer syndrome,[Neuhauser-Daly-Magnelli syndrome],"Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.",[190310],,,,,Neuhauser Daly Magnelli syndrome,TRUE,FALSE,Retired +GARD:3949,Active,Orphanet,ORPHA:2672,Disorder,[Malformation syndrome],Neuhauser-Eichner-Opitz syndrome,[Recurrent encephalophathy of childhood],"A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.",[130950],,,,,Neuhauser Eichner Opitz syndrome,TRUE,FALSE,Retired +GARD:395,Active,Orphanet,ORPHA:1574,Disorder,[Malformation syndrome],Retinal degeneration-nanophthalmos-glaucoma syndrome,[Mackay-Shek-Carr syndrome],"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.",[267760],,,,,"Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma",TRUE,FALSE,Active +GARD:3950,Legacy,GARD,,,,,,,,,,,,Neural crest tumor,TRUE,FALSE,Active +GARD:3953,Active,Orphanet,ORPHA:351,Disorder,[Disease],Galactosialidosis,"[Goldberg syndrome, Neuraminidase deficiency with beta-galactosidase deficiency]","Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.",[256540],,,,,Galactosialidosis,TRUE,FALSE,Active +GARD:3955,Active,Orphanet+OMIM,OMIM:162100,Subtype of disorder,[Disease subtype],"Amyotrophy, hereditary neuralgic","[brachial plexus neuropathy, hereditary, Neuritis with brachial predilection, amyotrophy, hereditary neuralgic, with predilection for brachial plexus]","Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.",[162100],[2901],[Neuralgic amyotrophy],[4228],,Hereditary neuralgic amyotrophy,TRUE,FALSE,Active +GARD:3956,Active,Orphanet,ORPHA:2388,Disorder,[Disease],Choreoacanthocytosis,"[ChAc, Chorea-acanthocytosis, Levine-Critchley syndrome]","Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.",[200150],,,,,Chorea-acanthocytosis,TRUE,FALSE,Active +GARD:3957,Active,Orphanet,ORPHA:35069,Disorder,[Disease],Infantile neuroaxonal dystrophy,"[INAD, INAD1, PLAN, Phospholipase A2-associated neurodegeneration, Seitelberger disease]","Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.","[610217, 256600]",,,,,Infantile neuroaxonal dystrophy,TRUE,FALSE,Active +GARD:3959,Legacy,GARD,,,,,,,,,,,,Neuroectodermal endocrine syndrome,TRUE,FALSE,Active +GARD:396,Active,Orphanet,ORPHA:3392,Disorder,[Disease],Tularemia,,"A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.",,,,,,Tularemia,TRUE,FALSE,Active +GARD:3963,Legacy,GARD,,,,,,,,,,,,Neuroepithelioma,TRUE,FALSE,Active +GARD:3964,Active,Orphanet,ORPHA:2673,Disorder,[Malformation syndrome],Neurofaciodigitorenal syndrome,[Freire Maia-Pinheiro-Opitz syndrome],"Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.",[256690],,,,,Neurofaciodigitorenal syndrome,TRUE,FALSE,Active +GARD:3966,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 3A,TRUE,FALSE,Retired +GARD:3967,Active,Orphanet,ORPHA:2678,Disorder,[Malformation syndrome],Neurofibromatosis type 6,"[Familial café-au-lait spots, Multiple café-au-lait spots, Multiple café-au-lait syndrome, NF6]","Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.",[114030],,,,,Multiple café-au-lait spots,TRUE,FALSE,Active +GARD:3969,Legacy,GARD,,,,,,,,,,,,Visceral neuropathy familial,TRUE,FALSE,Active +GARD:397,Legacy,GARD,,,,,,,,,,,,Herrmann Opitz arthrogryposis syndrome,TRUE,FALSE,Retired +GARD:3971,Active,Orphanet,ORPHA:2289,Disorder,[Disease],Neuronal intranuclear inclusion disease,,"Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.",[603472],,,,,Neuronal intranuclear inclusion disease,TRUE,FALSE,Active +GARD:3972,Active,Orphanet,ORPHA:255229,Disorder,[Disease],Navajo neurohepatopathy,[Navajo neuropathy],"A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.",[256810],,,,,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:3973,Active,Orphanet,ORPHA:99950,Disorder,[Disease],Charcot-Marie-Tooth disease type 4D,"[CMT4D, HMSN, Lom type, HMSN-Lom, Hereditary motor and sensory neuropathy, Lom type]","Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.",[601455],,,,,Charcot-Marie-Tooth disease type 4D,TRUE,FALSE,Active +GARD:3976,Active,Orphanet,ORPHA:970,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 2,"[Autosomal recessive sensory radicular neuropathy, HSAN2, Hereditary sensory and autonomic neuropathy type II, Neurogenic acroosteolysis]",A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.,"[613115, 243000, 614213, 201300]",,,,,Hereditary sensory and autonomic neuropathy type 2,TRUE,FALSE,Active +GARD:3978,Legacy,GARD,,,,,,,,,,,,Neuropathy sensory spastic paraplegia,TRUE,FALSE,Retired +GARD:3979,Active,Orphanet,ORPHA:98907,Disorder,[Disease],Neutral lipid storage disease with ichthyosis,"[Dorfman-Chanarin disease, NLSDI]","A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.",[275630],,,,,Chanarin-Dorfman syndrome,TRUE,FALSE,Active +GARD:398,Legacy,GARD,,,,,,,,,,,,Bagatelle Cassidy syndrome,TRUE,FALSE,Active +GARD:3981,Active,Orphanet,ORPHA:86788,Disorder,[Disease],X-linked severe congenital neutropenia,,"X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.",[300299],,,,,Severe congenital neutropenia X-linked,TRUE,FALSE,Active +GARD:3982,Active,Orphanet,ORPHA:2690,Disorder,[Disease],Neutropenia-monocytopenia-deafness syndrome,[Neutropenia-monocytopenia-hearing loss syndrome],"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.",,,,,,Neutropenia monocytopenia deafness,TRUE,FALSE,Retired +GARD:3983,Legacy,GARD,,,,,,,,,,,,Neutropenia chronic familial,TRUE,FALSE,Active +GARD:3986,Active,Orphanet,ORPHA:624,Disorder,[Morphological anomaly],Familial multiple nevi flammei,[Familial multiple port-wine stains],"Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.",[163000],,,,,"Nevi flammei, familial multiple",TRUE,FALSE,Active +GARD:3989,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 3B,TRUE,FALSE,Retired +GARD:399,Active,Orphanet,ORPHA:393,Disorder,[Malformation syndrome],"46,XX testicular disorder of sex development","[46,XX testicular DSD, De la Chapelle syndrome, XX, male syndrome]","A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.","[300833, 400045, 278850]",,,,,"46,XX testicular disorder of sex development",TRUE,FALSE,Active +GARD:3992,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type C2,TRUE,FALSE,Active +GARD:3994,Active,Orphanet,ORPHA:1390,Disorder,[Malformation syndrome],Night blindness-skeletal anomalies-dysmorphism syndrome,[Hunter-Thompson-Reed syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.",,,,,,Night blindness-skeletal anomalies-dysmorphism syndrome,TRUE,FALSE,Active +GARD:3995,Active,Orphanet,ORPHA:215,Disorder,[Disease],Congenital stationary night blindness,[Congenital essential nyctalopia],"Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.","[614565, 613216, 617024, 613830, 300071, 257270, 616389, 615058, 610444, 163500, 610427, 610445, 310500]",,,,,X-linked congenital stationary night blindness,TRUE,FALSE,Active +GARD:3999,Active,Orphanet,ORPHA:1884,Disorder,[Disease],Ectopia lentis-chorioretinal dystrophy-myopia syndrome,[Noble-Bass-Sherman syndrome],"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.",,,,,,Noble Bass Sherman syndrome,TRUE,FALSE,Active +GARD:4,Legacy,GARD,,,,,,,,,,,,Acanthocheilonemiasis,TRUE,FALSE,Active +GARD:400,Active,Orphanet,ORPHA:2067,Disorder,[Malformation syndrome],GAPO syndrome,[Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.",[230740],,,,,GAPO syndrome,TRUE,FALSE,Active +GARD:4001,Active,Orphanet,ORPHA:2700,Disorder,[Disease],Noma,[Cancrum oris],Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.,,,,,,Noma,TRUE,FALSE,Active +GARD:4002,Legacy,GARD,,,,,,,,,,,,Non functioning pancreatic endocrine tumor,TRUE,FALSE,Active +GARD:4003,Active,Orphanet,ORPHA:225,Disorder,[Disease],Maternally-inherited diabetes and deafness,"[MIDD, Maternally-inherited diabetes and hearing loss, Mitochondrial diabetes]",Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.,[520000],,,,,Maternally inherited diabetes and deafness,TRUE,FALSE,Active +GARD:4006,Legacy,GARD,,,,,,,,,,,,Noonan-like/multiple giant cell lesion syndrome,TRUE,FALSE,Retired +GARD:4009,Legacy,GARD,,,,,,,,,,,,Normokalemic periodic paralysis,TRUE,FALSE,Retired +GARD:4010,Active,Orphanet,ORPHA:1947,Disorder,[Disease],"Progressive epilepsy-intellectual disability syndrome, Finnish type","[CLN8 disease, Northern epilepsy variant, NCL, Northern epilepsy variant, Neuronal ceroid lipofuscinosis, Northern epilepsy variant, Northern epilepsy]","Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.",[610003],,,,,Northern epilepsy,TRUE,FALSE,Active +GARD:4011,Active,Orphanet,ORPHA:79293,Subtype of disorder,[Clinical subtype],Familial LCAT deficiency,"[Complete LCAT deficiency, FLD, Norum disease]","Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.",[245900],,,,,Familial LCAT deficiency,TRUE,FALSE,Active +GARD:4014,Active,Orphanet,ORPHA:2703,Disorder,[Malformation syndrome],Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,[Nova syndrome],"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.",,,,,,Nova syndrome,TRUE,FALSE,Retired +GARD:4015,Legacy,GARD,,,,,,,,,,,,Novak syndrome,TRUE,FALSE,Retired +GARD:4016,Legacy,GARD,,,,,,,,,,,,Neural tube defects,FALSE,FALSE,Active +GARD:4017,Active,Orphanet,ORPHA:198,Disorder,[Disease],Occipital horn syndrome,,"A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.",[304150],,,,,Occipital horn syndrome,TRUE,FALSE,Active +GARD:4018,Active,Orphanet,ORPHA:268861,Disorder,[Morphological anomaly],Primary tethered cord syndrome,[Primary tethered spinal cord syndrome],"Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.",,,,,,Tethered cord syndrome,TRUE,FALSE,Active +GARD:402,Active,Orphanet+OMIM,OMIM:165199,Subtype of disorder,[Disease subtype],"Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant",,"{1:Hagemoser et al. (1989)} reported 2 unrelated families with a disorder characterized by optic atrophy, hearing loss, and peripheral neuropathy. In the first family, there were 13 affected members spanning 4 generations with an instance of male-to-male transmission. Most patients had onset of bilateral hearing loss and visual loss with optic atrophy by school-age. Onset of neurologic features occurred only in a subset of patients as adults, and consisted primarily of decreased vibratory sensation and hyporeflexia in the lower limbs. Nerve conduction velocities suggested an axonal sensory and motor neuropathy. The second family had 3 affected members in 3 generations. Optic atrophy was recognized in the first decade of life. The proband had visual loss at school age and hearing loss by age 13 years. Decreased distal sensation developed as an adult. {1:Hagemoser et al. (1989)} concluded that this disorder showed autosomal dominant inheritance with initial presentation of optic atrophy.\n\nSee {311070} and {258650} for an X-linked and a possible autosomal recessive form of the disorder, respectively.",[165199],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,"Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy",TRUE,FALSE,Retired +GARD:4021,Legacy,GARD,,,,,,,,,,,,Oculo-cerebral dysplasia,TRUE,FALSE,Active +GARD:4022,Legacy,GARD,,,,,,,,,,,,Oculo cerebro acral syndrome,TRUE,FALSE,Retired +GARD:4023,Legacy,GARD,,,,,,,,,,,,Oculo cerebro osseous syndrome,TRUE,FALSE,Retired +GARD:4025,Legacy,GARD,,,,,,,,,,,,Oculo digital syndrome,TRUE,FALSE,Active +GARD:4028,Legacy,GARD,,,,,,,,,,,,Oculo skeletal renal syndrome,TRUE,FALSE,Active +GARD:4031,Active,Orphanet,ORPHA:398156,Disorder,[Malformation syndrome],Oculoauriculofrontonasal syndrome,[OAFNS],"Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.",[601452],,,,,Oculoauriculofrontonasal syndrome,TRUE,FALSE,Active +GARD:4034,Active,Orphanet,ORPHA:2720,Disorder,[Malformation syndrome],"Oculocerebral hypopigmentation syndrome, Preus type",,"Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.",[257790],,,,,Oculocerebral hypopigmentation syndrome type Preus,TRUE,FALSE,Active +GARD:4037,Active,Orphanet,ORPHA:352731,Disorder,[Disease],Oculocutaneous albinism type 1,[OCA1],"A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).","[606952, 203100]",,,,,Oculocutaneous albinism type 1,TRUE,FALSE,Active +GARD:4038,Active,Orphanet,ORPHA:79432,Disorder,[Disease],Oculocutaneous albinism type 2,[OCA2],"A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.",[203200],,,,,Oculocutaneous albinism type 2,TRUE,FALSE,Active +GARD:4039,Active,Orphanet,ORPHA:79433,Disorder,[Disease],Oculocutaneous albinism type 3,"[OCA3, Red oculocutaneous albinism, Rufous oculocutaneous albinism, Xanthous oculocutaneous albinism]",A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.,[203290],,,,,Oculocutaneous albinism type 3,TRUE,FALSE,Active +GARD:404,Active,Orphanet,ORPHA:2786,Disorder,[Malformation syndrome],Osteoporosis-oculocutaneous hypopigmentation syndrome,"[Hernández-Fragoso syndrome, OOCHS]","A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.",[601220],,,,,Osteoporosis oculocutaneous hypopigmentation syndrome,TRUE,FALSE,Active +GARD:4043,Legacy,GARD,,,,,,,,,,,,Oculodentodigital dysplasia dominant,TRUE,FALSE,Active +GARD:4045,Legacy,GARD,,,,,,,,,,,,Oculodentoosseous dysplasia recessive,TRUE,FALSE,Active +GARD:4046,Active,Orphanet,ORPHA:1794,Disorder,[Malformation syndrome],Oculomaxillofacial dysostosis,[Richieri-Costa-Gorlin syndrome],"Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.",,,,,,Oculomaxillofacial dysostosis,TRUE,FALSE,Active +GARD:4047,Active,Orphanet,ORPHA:1154,Disorder,[Malformation syndrome],Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,"[Distal arthrogryposis type 5, Distal arthrogryposis type IIB, Distal arthrogryposis with ophthalmoplegia, Oculomelic amyoplasia]","An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.",[108145],,,,,Distal arthrogryposis type 5,TRUE,FALSE,Active +GARD:4049,Active,Orphanet+OMIM,OMIM:257920,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 1,"[michels syndrome, formerly, Oculopalatoskeletal syndrome, craniosynostosis with lid anomalies]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3MC Syndrome\n\nAlso see 3MC syndrome-2 (3MC2; {265050}), caused by mutation in the COLEC11 gene ({612502}), and 3MC syndrome-3 (3MC3; {248340}), caused by mutation in the COLEC1 gene ({607620}).",[257920],[293843],[3MC syndrome],[1118],,Michels syndrome,TRUE,FALSE,Retired +GARD:405,Active,Orphanet,ORPHA:3191,Disorder,[Malformation syndrome],Subaortic stenosis-short stature syndrome,[Onat syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.",[271960],,,,,Subaortic stenosis short stature syndrome,TRUE,FALSE,Active +GARD:4050,Active,Orphanet,ORPHA:2715,Disorder,[Malformation syndrome],Severe oculo-renal-cerebellar syndrome,"[Hunter-Jurenka-Thompson syndrome, ORC syndrome, Oculorenocerebellar syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.",[257970],,,,,Oculorenocerebellar syndrome,TRUE,FALSE,Active +GARD:4051,Active,Orphanet,ORPHA:2722,Disorder,[Malformation syndrome],Odonto-onycho dysplasia-alopecia syndrome,,"Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.",,,,,,Odonto onycho dysplasia with alopecia,TRUE,FALSE,Active +GARD:4053,Active,Orphanet,ORPHA:1811,Disorder,[Malformation syndrome],Odontomicronychial dysplasia,,"Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.",[601319],,,,,Odontomicronychial dysplasia,TRUE,FALSE,Active +GARD:4054,Active,Orphanet,ORPHA:2721,Disorder,[Disease],Odonto-onycho-dermal dysplasia,[OODD],"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).",[257980],,,,,Odontoonychodermal dysplasia,TRUE,FALSE,Active +GARD:406,Active,Orphanet,ORPHA:2253,Disorder,[Disease],Foveal hypoplasia-presenile cataract syndrome,[O'Donnell-Pappas syndrome],"Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.",[136520],,,,,O Donnell Pappas syndrome,TRUE,FALSE,Active +GARD:4060,Active,Orphanet,ORPHA:2755,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 8,"[OFD8, Oral-facial-digital syndrome type 8, Oral-facial-digital syndrome, Edwards type, Orofaciodigital syndrome, Edwards type]","Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.",[300484],,,,,Orofaciodigital syndrome 8,TRUE,FALSE,Active +GARD:4061,Active,Orphanet,ORPHA:2756,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 10,"[Figuera syndrome, OFD10, Oral-facial-digital syndrome type 10, Orofaciodigital syndrome with fibular aplasia]","Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.",[165590],,,,,Orofaciodigital syndrome 10,TRUE,FALSE,Active +GARD:4062,Active,Orphanet,ORPHA:1186,Disorder,[Disease],Infantile-onset spinocerebellar ataxia,"[IOSCA, Ohaha syndrome, Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome]",Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.,[271245],,,,,Infantile onset spinocerebellar ataxia,TRUE,FALSE,Active +GARD:4064,Active,Orphanet,ORPHA:2729,Disorder,[Malformation syndrome],Okamoto syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported.",[604916],,,,,Okamoto syndrome,TRUE,FALSE,Active +GARD:4065,Active,Orphanet,ORPHA:2730,Disorder,[Malformation syndrome],Postaxial tetramelic oligodactyly,,"Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.",[176240],,,,,Oligodactyly tetramelic postaxial,TRUE,FALSE,Active +GARD:4066,Active,Orphanet,ORPHA:2260,Disorder,[Morphological anomaly],Oligomeganephronia,[Oligomeganephronic renal hypoplasia],A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.,,,,,,Oligomeganephronic renal hypoplasia,TRUE,FALSE,Active +GARD:4069,Active,Orphanet,ORPHA:2920,Disorder,[Malformation syndrome],Oliver syndrome,[Postaxial polydactyly-intellectual disability syndrome],"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.",[258200],,,,,Oliver syndrome,TRUE,FALSE,Active +GARD:407,Active,Orphanet,ORPHA:999,Disorder,[Malformation syndrome],Ermine phenotype,"[O'Doherty syndrome, Pigmentary disorder with deafness, Pigmentary disorder with hearing loss]","A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.",[227010],,,,,Ermine phenotype,TRUE,FALSE,Active +GARD:4070,Active,Orphanet,ORPHA:2732,Disorder,[Malformation syndrome],Olivopontocerebellar atrophy-deafness syndrome,[Olivopontocerebellar atrophy-hearing loss syndrome],"Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.",,,,,,Olivopontocerebellar atrophy deafness,TRUE,FALSE,Active +GARD:4071,Active,Orphanet,ORPHA:98755,Disorder,[Disease],Spinocerebellar ataxia type 1,[SCA1],"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.",[164400],,,,,Spinocerebellar ataxia 1,TRUE,FALSE,Active +GARD:4072,Active,Orphanet,ORPHA:98756,Disorder,[Disease],Spinocerebellar ataxia type 2,[SCA2],"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.",[183090],,,,,Spinocerebellar ataxia 2,TRUE,FALSE,Active +GARD:4075,Active,Orphanet,ORPHA:659,Disorder,[Disease],Mutilating palmoplantar keratoderma with periorificial keratotic plaques,"[Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, Olmsted syndrome, Palmoplantar and periorificial keratoderma]",A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.,"[619208, 614594, 300918]",,,,,Olmsted syndrome,TRUE,FALSE,Active +GARD:4076,Active,Orphanet,ORPHA:93329,Subtype of disorder,[Clinical subtype],Autosomal recessive omodysplasia,[Micromelic dysplasia-dislocation of radius syndrome],,[258315],,,,,Omodysplasia 1,TRUE,FALSE,Active +GARD:4079,Active,Orphanet,ORPHA:2736,Disorder,[Malformation syndrome],Lethal omphalocele-cleft palate syndrome,[Czeizel syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.",[258320],,,,,Omphalocele cleft palate syndrome lethal,TRUE,FALSE,Active +GARD:408,Active,Orphanet,ORPHA:629,Subtype of disorder,[Clinical subtype],Short stature due to growth hormone qualitative anomaly,[Kowarski syndrome],"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.",[262650],,,,,Kowarski syndrome,TRUE,FALSE,Active +GARD:4080,Active,Orphanet,ORPHA:93929,Subtype of disorder,[Clinical subtype],Cloacal exstrophy,"[OEIS complex, Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome]","A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.",[258040],,,,,"Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex",TRUE,FALSE,Active +GARD:4081,Active,Orphanet,ORPHA:490,Disorder,[Morphological anomaly],Omphalomesenteric cyst,,"A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.",,,,,,Omphalomesenteric cyst,TRUE,FALSE,Active +GARD:4083,Active,Orphanet,ORPHA:1487,Disorder,[Malformation syndrome],Cooks syndrome,"[Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome, ODP]",Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.,[106995],,,,,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges,TRUE,FALSE,Active +GARD:4085,Active,Orphanet,ORPHA:221046,Disorder,[Disease],Poikiloderma with neutropenia,"[Poikiloderma with neutropenia, Clericuzio type]","Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.",[604173],,,,,Poikiloderma with neutropenia,TRUE,FALSE,Active +GARD:4087,Legacy,GARD,,,,,,,,,,,,Opthalmic icthyosis,TRUE,FALSE,Retired +GARD:4089,Legacy,GARD,,,,,,,,,,,,Opthalmomandibulomelic dysplasia,TRUE,FALSE,Active +GARD:409,Active,Orphanet,ORPHA:2798,Disorder,[Malformation syndrome],Pachygyria-intellectual disability-epilepsy syndrome,[Kuzniecky syndrome],"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.",[600176],,,,,Pachygyria-intellectual disability-epilepsy syndrome,TRUE,FALSE,Active +GARD:4090,Legacy,GARD,,,,,,,,,,,,Ophthalmoplegia myalgia tubular aggregates,TRUE,FALSE,Retired +GARD:4092,Legacy,GARD,,,,,,,,,,,,Opthalmoplegia mental retardation lingua scrotalis,TRUE,FALSE,Retired +GARD:4093,Legacy,GARD,,,,,,,,,,,,Opthalmoplegia progressive external scoliosis,TRUE,FALSE,Retired +GARD:4098,Active,Orphanet,ORPHA:2746,Disorder,[Disease],Opsismodysplasia,,Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.,[258480],,,,,Opsismodysplasia,TRUE,FALSE,Active +GARD:4101,Legacy,GARD,,,,,,,,,,,,Optic atrophy opthalmoplegia ptosis deafness myopia,TRUE,FALSE,Retired +GARD:4102,Legacy,GARD,,,,,,,,,,,,Optic atrophy polyneuropathy deafness,TRUE,FALSE,Active +GARD:4106,Active,Orphanet,ORPHA:1475,Disorder,[Malformation syndrome],Renal coloboma syndrome,"[Coloboma of optic nerve with renal disease, Papillo-renal syndrome]",A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.,[120330],,,,,Renal coloboma syndrome,TRUE,FALSE,Active +GARD:4107,Active,Orphanet,ORPHA:2086,Disorder,[Disease],Optic pathway glioma,,"Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).",,,,,,Optic pathway glioma,TRUE,FALSE,Active +GARD:4108,Legacy,GARD,,,,,,,,,,,,Opticoacoustic nerve atrophy dementia,TRUE,FALSE,Retired +GARD:411,Active,Orphanet,ORPHA:2323,Disorder,[Malformation syndrome],Sanjad-Sakati syndrome,"[HRD syndrome, Hypoparathyroidism-intellectual disability-dysmorphism syndrome, Hypoparathyroidism-short stature-intellectual disability-seizures syndrome, Richardson-Kirk syndrome, SSS]","Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.",[241410],,,,,Hypoparathyroidism-intellectual disability-dysmorphism syndrome,TRUE,FALSE,Active +GARD:4114,Legacy,GARD,,,,,,,,,,,,Organic mood syndrome,TRUE,FALSE,Active +GARD:4116,Active,Orphanet,ORPHA:2749,Group of disorders,[Clinical group],Oromandibular-limb hypogenesis syndrome,[Oroacral syndrome],"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).",,,,,,Oro-mandibular-limb hypogenesis syndrome,TRUE,FALSE,Active +GARD:4118,Active,Orphanet,ORPHA:141000,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 11,"[OFD11, Oral-facial-digital syndrome type 11, Oral-facial-digital syndrome, Gabrielli type, Orofaciodigital syndrome, Gabrielli type]","Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.",[612913],,,,,Orofaciodigital syndrome 11,TRUE,FALSE,Active +GARD:4119,Active,Orphanet,ORPHA:85286,Disorder,[Malformation syndrome],"X-linked intellectual disability, Shashi type",[Syndromic X-linked intellectual disability type 11],"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.",[300238],,,,,"X-linked intellectual disability, Shashi type",TRUE,FALSE,Active +GARD:412,Active,Orphanet,ORPHA:1221,Disorder,[Disease],Cheilitis glandularis,,A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.,[118330],,,,,Cheilitis glandularis,TRUE,FALSE,Active +GARD:4120,Active,Orphanet,ORPHA:2919,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 5,"[OFD5, Oral-facial-digital syndrome type 5, Orofaciodigital syndrome, Thurston type, Polydactyly postaxial with median cleft of upper lip, Thurston syndrome]","A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).",[174300],,,,,Orofaciodigital syndrome 5,TRUE,FALSE,Active +GARD:4121,Active,Orphanet,ORPHA:2750,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 1,"[OFD1, OFDI, OFDSI, Oral-facial-digital syndrome type 1, Papillon-Léage-Psaume syndrome]","Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.",[311200],,,,,Orofaciodigital syndrome 1,TRUE,FALSE,Active +GARD:4129,Active,Orphanet,ORPHA:2760,Disorder,[Malformation syndrome],OSLAM syndrome,[Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome],"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.",[165660],,,,,Oslam syndrome,TRUE,FALSE,Active +GARD:413,Active,Orphanet,ORPHA:2078,Disorder,[Malformation syndrome],Geroderma osteodysplastica,,"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.",[231070],,,,,Geroderma osteodysplastica,TRUE,FALSE,Active +GARD:4130,Active,Orphanet,ORPHA:1427,Disorder,[Disease],Otospondylomegaepiphyseal dysplasia,[OSMED],"Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.",[215150],,,,,OSMED Syndrome,TRUE,FALSE,Active +GARD:4131,Active,Orphanet,ORPHA:3314,Disorder,[Disease],"Thiemann disease, familial form","[Aseptic necrosis of phalangeal epiphyses, Osteochondrosis of phalangeal epiphyses]","A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.",[165700],,,,,Osteoarthropathy of fingers familial,TRUE,FALSE,Active +GARD:4133,Active,Orphanet,ORPHA:251262,Disorder,[Disease],Familial osteochondritis dissecans,[Osteochondritis dissecans and short stature],"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.",[165800],,,,,Familial osteochondritis dissecans,TRUE,FALSE,Active +GARD:4136,Active,Orphanet,ORPHA:2769,Disorder,[Malformation syndrome],"Familial osteodysplasia, Anderson type",,"Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.",[259250],,,,,Osteodysplasia familial Anderson type,TRUE,FALSE,Active +GARD:4138,Legacy,GARD,,,,,,,,,,,,Osteoectasia familial,TRUE,FALSE,Retired +GARD:4139,Active,Orphanet,ORPHA:2772,Disorder,[Malformation syndrome],Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,,"A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.",[259410],,,,,Osteogenesis imperfecta congenita microcephaly and cataracts,TRUE,FALSE,Retired +GARD:414,Active,Orphanet,ORPHA:1226,Disorder,[Malformation syndrome],Bamforth-Lazarus syndrome,"[Athyroidal hypothyroidism-spiky hair-cleft palate syndrome, Bamforth syndrome, Hypothyroidism-cleft palate syndrome]","A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.",[241850],,,,,Bamforth syndrome,TRUE,FALSE,Active +GARD:4142,Active,Orphanet,ORPHA:2645,Disorder,[Malformation syndrome],Osteoglosphonic dysplasia,[Osteoglophonic dwarfism],"A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.",[166250],,,,,Osteoglophonic dysplasia,TRUE,FALSE,Active +GARD:4144,Legacy,GARD,,,,,,,,,,,,Autosomal recessive distal osteolysis syndrome,TRUE,FALSE,Active +GARD:4148,Active,Orphanet,ORPHA:2780,Disorder,[Malformation syndrome],Osteopathia striata-cranial sclerosis syndrome,"[Hyperostosis generalisata with striations, Robinow-Unger syndrome]","Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.",[300373],,,,,Osteopathia striata with cranial sclerosis,TRUE,FALSE,Active +GARD:415,Active,Orphanet,ORPHA:2985,Disorder,[Malformation syndrome],Pseudoprogeria syndrome,"[Absent eyebrows and eyelashes-intellectual disability syndrome, Hal-Berg-Rudolph syndrome]","A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.",[200130],,,,,Pseudoprogeria syndrome,TRUE,FALSE,Active +GARD:4151,Active,Orphanet,ORPHA:2783,Disorder,[Malformation syndrome],Autosomal dominant osteopetrosis type 1,,A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.,[607634],,,,,Osteopetrosis autosomal dominant type 1,TRUE,FALSE,Active +GARD:4153,Active,Orphanet+OMIM,OMIM:259720,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 5","[Osteopetrosis, infantile malignant 3]","Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life ({7:Quarello et al., 2004}).",[259720],[85179],[Infantile osteopetrosis with neuroaxonal dysplasia],[10082],,Osteopetrosis autosomal recessive 5,TRUE,FALSE,Active +GARD:4154,Active,Orphanet,ORPHA:2785,Disorder,[Disease],Osteopetrosis with renal tubular acidosis,"[Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA, Mixed renal tubular acidosis, Renal tubular acidosis type 3]","Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.","[267200, 259730]",,,,,Osteopetrosis autosomal recessive 3,TRUE,FALSE,Active +GARD:4155,Active,Orphanet,ORPHA:2781,Group of disorders,[Clinical group],Osteopetrosis and related disorders,,"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.",,,,,,Osteopetrosis,TRUE,FALSE,Active +GARD:4156,Active,Orphanet,ORPHA:210110,Disorder,[Malformation syndrome],Intermediate osteopetrosis,[Autosomal recessive intermediate osteopetrosis],"Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.",[611497],,,,,Osteopetrosis autosomal recessive 6,TRUE,FALSE,Active +GARD:4157,Active,Orphanet+OMIM,OMIM:259710,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 2","[Osteopetrosis, osteoclast-poor, osteopetrosis, mild autosomal recessive form]",,[259710],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 2,TRUE,FALSE,Active +GARD:4158,Legacy,GARD,,,,,,,,,,,,Osteopoikilosis,TRUE,FALSE,Active +GARD:4160,Active,Orphanet,ORPHA:2788,Disorder,[Disease],Osteoporosis-pseudoglioma syndrome,"[OPPG, Ocular form of osteogenesis imperfecta]",Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.,[259770],,,,,Osteoporosis-pseudoglioma syndrome,TRUE,FALSE,Active +GARD:4163,Active,Orphanet,ORPHA:79093,Disorder,[Malformation syndrome],Foix-Alajouanine syndrome,"[Angiodysgenetic necrotizing myelopathy, Familial osteosclerosis with abnormalities of the nervous system and meninges, Subacute angiohypertrophic myelomalacia, Subacute ascending necrotizing myelitis, Subacute necrotizing myelitis]","Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.",,,,,,Osteosclerosis abnormalities of nervous system and meninges,TRUE,FALSE,Retired +GARD:4166,Active,Orphanet,ORPHA:1338,Disorder,[Malformation syndrome],Heart defect-tongue hamartoma-polysyndactyly syndrome,[Ostravik-Lindemann-Solberg syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.",[217085],,,,,Heart defect-tongue hamartoma-polysyndactyly syndrome,TRUE,FALSE,Active +GARD:4168,Active,Orphanet,ORPHA:2791,Disorder,[Malformation syndrome],Otodental syndrome,"[Globodontia, Otodental dysplasia]",Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.,[166750],,,,,Otodental dysplasia,TRUE,FALSE,Active +GARD:4169,Active,Orphanet,ORPHA:2792,Disorder,[Malformation syndrome],Otofaciocervical syndrome,"[Fara-Chlupackova syndrome, OFC syndrome]","Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.","[166780, 615560]",,,,,Otofaciocervical syndrome,TRUE,FALSE,Active +GARD:417,Legacy,GARD,,,,,,,,,,,,Aloi Tomasini Isaia syndrome,TRUE,FALSE,Retired +GARD:4170,Active,Orphanet,ORPHA:2793,Disorder,[Malformation syndrome],Otoonychoperoneal syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.",[259780],,,,,Otoonychoperoneal syndrome,TRUE,FALSE,Active +GARD:4174,Legacy,GARD,,,,,,,,,,,,"Otosclerosis, familial",TRUE,FALSE,Active +GARD:4176,Active,Orphanet,ORPHA:1179,Disorder,[Disease],Benign paroxysmal tonic upgaze of childhood with ataxia,[Ouvrier-Billson syndrome],"Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.",[168885],,,,,Ouvrier Billson syndrome,TRUE,FALSE,Active +GARD:4179,Legacy,GARD,,,,,,,,,,,,Ovarian insufficiency due to FSH resistance,TRUE,FALSE,Retired +GARD:418,Active,Orphanet,ORPHA:2843,Disorder,[Disease],Pentosuria,"[Essential pentosuria, Xylitol dehydrogenase deficiency]",Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.,[260800],,,,,Pentosuria,TRUE,FALSE,Active +GARD:4181,Legacy,GARD,,,,,,,,,,,,Overgrowth radial ray defect arthrogryposis,TRUE,FALSE,Retired +GARD:4183,Active,Orphanet,ORPHA:3203,Disorder,[Disease],Overhydrated hereditary stomatocytosis,,Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.,[185000],,,,,Overhydrated hereditary stomatocytosis,TRUE,FALSE,Active +GARD:4188,Legacy,GARD,,,,,,,,,,,,Pachyonychia congenita type 2,TRUE,FALSE,Retired +GARD:4189,Active,Orphanet,ORPHA:1952,Disorder,[Malformation syndrome],Epiphyseal stippling-osteoclastic hyperplasia syndrome,[Pacman dysplasia],"A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.",[167220],,,,,Pacman dysplasia,TRUE,FALSE,Active +GARD:4191,Legacy,GARD,,,,,,,,,,,,"Paget disease of bone, familial",TRUE,FALSE,Active +GARD:4192,Active,Orphanet,ORPHA:2800,Disorder,[Disease],Extramammary Paget disease,,"A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.",[167300],,,,,Extramammary Paget disease,TRUE,FALSE,Active +GARD:4195,Legacy,GARD,,,,,,,,,,,,Pagon Stephan syndrome,TRUE,FALSE,Active +GARD:4198,Legacy,GARD,,,,,,,,,,,,Palant cleft palate syndrome,TRUE,FALSE,Active +GARD:4199,Active,Orphanet,ORPHA:2184,Disorder,[Malformation syndrome],Hydrocephaly-low insertion umbilicus syndrome,[Palmer-Pagon syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.",,,,,,Palmer Pagon syndrome,TRUE,FALSE,Active +GARD:42,Active,Orphanet,ORPHA:3310,Disorder,[Malformation syndrome],Tetrasomy 9p,[Isochromosome 9p],"Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).",,,,,,Tetrasomy 9p,TRUE,FALSE,Active +GARD:420,Active,Orphanet+OMIM,OMIM:276300,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 1,"[Constitutional mismatch repair deficiency syndrome, childhood cancer syndrome, brain tumor-polyposis syndrome 1, mmr deficiency, turcot syndrome, btp1 syndrome, mismatch repair deficiency]","Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; {162200}), particularly multiple cafe-au-lait macules (summary by {1:Baas et al., 2013}).\n\n{31:Wimmer and Etzler (2008)} provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated.\n\n<Subhead> Genetic Heterogeneity of Mismatch Repair Cancer Syndrome\n\nMMRCS2 ({619096}) is caused by mutation in the MSH2 gene ({609309}) on chromosome 2p21-p16. MMRCS3 ({619097}) is caused by mutation in the MSH6 gene ({600678}) on chromosome 2p16. MMRCS4 ({619101}) is caused by mutation in the PMS2 gene ({600259}) on chromosome 7p22.\n\nPatients with familial adenomatous polyposis (FAP; {175100}), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.\n\nHeterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, {120435}).",[276300],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,Turcot syndrome,TRUE,FALSE,Active +GARD:4203,Active,Orphanet,ORPHA:2805,Disorder,[Morphological anomaly],Partial pancreatic agenesis,"[Congenital pancreatic agenesis, Partial agenesis of the pancreas]",Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.,"[167755, 615935, 260370]",,,,,Agenesis of the dorsal pancreas,TRUE,FALSE,Active +GARD:4204,Active,Orphanet,ORPHA:93292,Disorder,[Disease],Adenoma of pancreas,[Pancreatic adenoma],"A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.",,,,,,Pancreatic adenoma,TRUE,FALSE,Active +GARD:4205,Legacy,GARD,,,,,,,,,,,,Pancreatic beta cell agenesis with neonatal diabetes mellitus,TRUE,FALSE,Retired +GARD:4206,Active,Orphanet,ORPHA:1333,Disorder,[Disease],Familial pancreatic carcinoma,[Familial pancreatic cancer],Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.,"[606856, 613347, 614320, 613348, 260350]",,,,,Familial pancreatic cancer,TRUE,FALSE,Active +GARD:4208,Legacy,GARD,,,,,,,,,,,,Pancreatic lipomatosis duodenal stenosis,TRUE,FALSE,Active +GARD:4210,Active,Orphanet,ORPHA:677,Disorder,[Disease],Pancreatoblastoma,,"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.",,,,,,Pancreatoblastoma,TRUE,FALSE,Active +GARD:4213,Active,Orphanet,ORPHA:93276,Subtype of disorder,[Clinical subtype],Polyostotic fibrous dysplasia,,,,,,,,Panostotic fibrous dysplasia,TRUE,FALSE,Active +GARD:4214,Active,Orphanet,ORPHA:2807,Disorder,[Disease],Papilloma of choroid plexus,"[CPP, Choroid plexus papilloma]","A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.",[260500],,,,,Choroid plexus papilloma,TRUE,FALSE,Active +GARD:4215,Legacy,GARD,,,,,,,,,,,,Parainfluenza virus type 3,TRUE,FALSE,Active +GARD:4218,Legacy,GARD,,,,,,,,,,,,Paraomphalocele,TRUE,FALSE,Active +GARD:4219,Active,Orphanet,ORPHA:100998,Disorder,[Disease],Autosomal dominant spastic paraplegia type 17,"[SPG17, Silver syndrome, Spastic paraplegia-amyotrophy of hands and feet]","A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.",[270685],,,,,Spastic paraplegia 17,TRUE,FALSE,Active +GARD:422,Legacy,GARD,,,,,,,,,,,,Tunglang Savage Bellman syndrome,TRUE,FALSE,Active +GARD:4222,Active,Orphanet,ORPHA:2646,Disorder,[Malformation syndrome],Parastremmatic dwarfism,,"A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.",[168400],,,,,Parastremmatic dwarfism,TRUE,FALSE,Active +GARD:4223,Active,Orphanet,ORPHA:2825,Disorder,[Malformation syndrome],PARC syndrome,[Poikiloderma-alopecia-retrognathism-cleft palate syndrome],"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.",[600331],,,,,PARC syndrome,TRUE,FALSE,Active +GARD:4224,Active,Orphanet,ORPHA:851,Disorder,[Disease],Paris-Trousseau thrombocytopenia,,"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","[188025, 617443]",,,,,Paris-Trousseau thrombocytopenia,TRUE,FALSE,Active +GARD:4227,Active,Orphanet,ORPHA:228140,Disorder,[Disease],"Idiopathic ventricular fibrillation, non Brugada type","[Familial paroxysmal ventricular fibrillation, non Brugada type]","A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","[603829, 612956]",,,,,Paroxysmal ventricular fibrillation,TRUE,FALSE,Active +GARD:4228,Active,Orphanet,ORPHA:2901,Disorder,[Disease],Neuralgic amyotrophy,"[Acute brachial plexus neuritis, Brachial plexus neuritis, Immune brachial plexus neuropathy, Mononeuritis multiplex with brachial predilection, Neuralgic shoulder amyotrophy]","A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.",[162100],,,,,Parsonage Turner syndrome,TRUE,FALSE,Active +GARD:4229,Active,Orphanet,ORPHA:1330,Disorder,[Morphological anomaly],Partial atrioventricular septal defect,"[PAVC, Partial AVSD, Partial atrioventricular canal defect]","A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.",,,,,,Partial atrioventricular canal,TRUE,FALSE,Active +GARD:4230,Legacy,GARD,,,,,,,,,,,,Partial deletion of Y,TRUE,FALSE,Active +GARD:4232,Legacy,GARD,,,,,,,,,,,,Partial lissencephaly,TRUE,FALSE,Retired +GARD:4234,Legacy,GARD,,,,,,,,,,,,Partington Anderson syndrome,TRUE,FALSE,Retired +GARD:4235,Active,Orphanet,ORPHA:94083,Disorder,[Malformation syndrome],Partington syndrome,"[Partington-Mulley syndrome, X-linked intellectual disability-dystonia-dysarthria syndrome]","Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.",[309510],,,,,Partington syndrome,TRUE,FALSE,Active +GARD:4236,Active,Orphanet,ORPHA:295,Disorder,[Malformation syndrome],Fetal parvovirus syndrome,"[Mother-to-child transmission of parvovirus syndrome, Parvovirus antenatal infection]","Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.",,,,,,Parvovirus antenatal infection,TRUE,FALSE,Active +GARD:4238,Active,Orphanet,ORPHA:1252,Disorder,[Malformation syndrome],Blepharonasofacial malformation syndrome,"[Pashayan syndrome, Pashayan-Pruzansky syndrome]","Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.",[110050],,,,,Blepharonasofacial malformation syndrome,TRUE,FALSE,Active +GARD:424,Active,Orphanet,ORPHA:3469,Disorder,[Malformation syndrome],XK aprosencephaly syndrome,"[Garcia-Lurie syndrome, XK syndrome, XK-aprosencephaly]","A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.",[207770],,,,,XK aprosencephaly,TRUE,FALSE,Active +GARD:425,Active,Orphanet,ORPHA:1063,Disorder,[Disease],Tufted angioma,[Nakagawa angioblastoma],A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation.,[607859],,,,,Tufted angioma,TRUE,FALSE,Active +GARD:4253,Legacy,GARD,,,,,,,,,,,,Patel Bixler syndrome,TRUE,FALSE,Retired +GARD:4255,Legacy,GARD,,,,,,,,,,,,Patella hypoplasia mental retardation,TRUE,FALSE,Retired +GARD:4259,Active,Orphanet,ORPHA:2976,Disorder,[Malformation syndrome],"Pseudoleprechaunism syndrome, Patterson type","[Patterson pseudoleprechaunism syndrome, Patterson syndrome]","Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.",[169170],,,,,Patterson pseudoleprechaunism syndrome,TRUE,FALSE,Active +GARD:4260,Active,Orphanet,ORPHA:2439,Disorder,[Malformation syndrome],Patterson-Stevenson-Fontaine syndrome,"[Patterson-Stevenson syndrome, Split foot deformity-mandibulofacial dysostosis syndrome]",Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.,[183700],,,,,Patterson-Stevenson-Fontaine syndrome,TRUE,FALSE,Active +GARD:4261,Active,Orphanet,ORPHA:85410,Disorder,[Disease],Oligoarticular juvenile idiopathic arthritis,"[Oligoarticular JIA, Pauciarticular chronic arthritis]",A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.,,,,,,Pauciarticular chronic arthritis,TRUE,FALSE,Active +GARD:4262,Legacy,GARD,,,,,,,,,,,,Syndactyly type 1 with cataracts and mental retardation,TRUE,FALSE,Retired +GARD:4264,Active,Orphanet,ORPHA:2836,Disorder,[Disease],PEHO syndrome,"[Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy, Progressive encephalopathy-optic atrophy syndrome]","PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.",[260565],,,,,PEHO syndrome,TRUE,FALSE,Active +GARD:4265,Active,Orphanet,ORPHA:702,Disorder,[Disease],Pelizaeus-Merzbacher disease,"[Diffuse familial brain sclerosis, PMD, Pelizaeus-Merzbacher brain sclerosis, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type]","Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).","[312080, 213900]",,,,,Pelizaeus-Merzbacher disease,TRUE,FALSE,Active +GARD:4266,Active,Orphanet,ORPHA:280293,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,,,[260600],,,,,"Leukodystrophy, hypomyelinating 3",TRUE,FALSE,Active +GARD:4267,Legacy,GARD,,,,,,,,,,,,Pellagra like syndrome,TRUE,FALSE,Active +GARD:4268,Legacy,GARD,,,,,,,,,,,,Tryptophanuria with dwarfism,TRUE,FALSE,Active +GARD:4269,Active,Orphanet,ORPHA:2840,Disorder,[Malformation syndrome],Pelvic dysplasia-arthrogryposis of lower limbs syndrome,[Ray-Peterson-Scott syndrome],"Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.",[602484],,,,,Pelvic dysplasia arthrogryposis of lower limbs,TRUE,FALSE,Active +GARD:427,Active,Orphanet,ORPHA:2997,Disorder,[Malformation syndrome],Ptosis-vocal cord paralysis syndrome,[Tucker syndrome],"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.",[193240],,,,,Tucker syndrome,TRUE,FALSE,Active +GARD:4270,Active,Orphanet+OMIM,OMIM:169610,Subtype of disorder,[Disease subtype],"Pemphigus vulgaris, familial",,"Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by {2:Ahmed et al., 1990}).",[169610],[704],[Pemphigus vulgaris],[7355],,Familial pemphigus vulgaris,TRUE,FALSE,Retired +GARD:4271,Active,Orphanet,ORPHA:705,Disorder,[Malformation syndrome],Pendred syndrome,"[Goiter-deafness syndrome, Goiter-hearing loss syndrome]",A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.,[274600],,,,,Pendred syndrome,TRUE,FALSE,Active +GARD:4272,Active,Orphanet,ORPHA:49,Disorder,[Morphological anomaly],Penile agenesis,"[Aphallia, Penis agenesis]","Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.",,,,,,Penis agenesis,TRUE,FALSE,Active +GARD:4273,Active,Orphanet,ORPHA:2842,Disorder,[Morphological anomaly],Penoscrotal transposition,,"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).",,,,,,Penoscrotal transposition,TRUE,FALSE,Active +GARD:4276,Active,Orphanet,ORPHA:363665,Disorder,[Disease],Acroosteolysis-keloid-like lesions-premature aging syndrome,"[Premature aging syndrome, Penttinen type]","A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.",[601812],,,,,Acroosteolysis-keloid-like lesions-premature aging syndrome,TRUE,FALSE,Active +GARD:4278,Active,Orphanet+OMIM,OMIM:261680,Subtype of disorder,[Disease subtype],"Phosphoenolpyruvate carboxykinase deficiency, cytosolic","[pepck deficiency, cytosolic, Pck1 deficiency, cytosolic]","Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction ({7:Vieira et al., 2017}).\n\nSee PCKDM ({261650}) for a discussion of mitochondrial PCK (PEPCK2; {614095}) deficiency.",[261680],[2880],[Phosphoenolpyruvate carboxykinase deficiency],[16613],,PEPCK 1 deficiency,TRUE,FALSE,Active +GARD:4279,Active,Orphanet+OMIM,OMIM:261650,Subtype of disorder,[Disease subtype],"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","[pepck2 deficiency, Pck2 deficiency]",,[261650],[2880],[Phosphoenolpyruvate carboxykinase deficiency],[16613],,PEPCK 2 deficiency,TRUE,FALSE,Active +GARD:428,Active,Orphanet,ORPHA:1521,Disorder,[Malformation syndrome],Craniofrontonasal dysplasia-Poland anomaly syndrome,[Webster-Deming syndrome],"Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.",,,,,,Webster Deming syndrome,TRUE,FALSE,Retired +GARD:4280,Legacy,GARD,,,,,,,,,,,,Peptidic growth factors deficiency,TRUE,FALSE,Retired +GARD:4284,Legacy,GARD,,,,,,,,,,,,Pericardium absent mental retardation short stature,TRUE,FALSE,Retired +GARD:429,Active,Orphanet,ORPHA:295000,Disorder,[Malformation syndrome],Constriction rings syndrome,"[Amniotic band sequence, Amniotic band syndrome, Congenital ring constrictions, Constriction band syndrome, Streeter dysplasia]","Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.",[217100],,,,,Amniotic band syndrome,TRUE,FALSE,Active +GARD:4291,Active,Orphanet+OMIM,OMIM:610422,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 2,,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).",[610422],[2850],[Alopecia-intellectual disability syndrome],[612],,Alopecia intellectual disability syndrome 2,TRUE,FALSE,Active +GARD:4299,Active,Orphanet,ORPHA:2776,Disorder,[Malformation syndrome],Autosomal recessive distal osteolysis syndrome,"[Distal osteolysis-short stature-intellectual disability syndrome, Petit-Fryns syndrome]","An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.",[259610],,,,,Petit-Fryns syndrome,TRUE,FALSE,Retired +GARD:43,Active,Orphanet,ORPHA:99776,Disorder,[Malformation syndrome],Mosaic trisomy 9,"[Mosaic trisomy chromosome 9, Trisomy 9 mosaicism]","Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.",,,,,,Mosaic trisomy 9,TRUE,FALSE,Active +GARD:430,Legacy,GARD,,,,,,,,,,,,Tachycardia hypertension microphthalmia and hyperglycinuria,TRUE,FALSE,Retired +GARD:4302,Active,Orphanet,ORPHA:2496,Disorder,[Malformation syndrome],Mesomelia-synostoses syndrome,"[8q13 microdeletion syndrome, Del(8)q(13), Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type, Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type, Monosomy 8q13, Verloes-David syndrome]","A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.",[600383],,,,,Mesomelia-synostoses syndrome,TRUE,FALSE,Active +GARD:4303,Active,Orphanet,ORPHA:3224,Disorder,[Malformation syndrome],Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,"[Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome, Pfeiffer-Kapferer syndrome]","Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).",,,,,,Pfeiffer Kapferer syndrome,TRUE,FALSE,Active +GARD:4304,Active,Orphanet,ORPHA:2921,Disorder,[Malformation syndrome],Preaxial polydactyly-colobomata-intellectual disability syndrome,[Pfeiffer-Mayer syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.",,,,,,Pfeiffer Mayer syndrome,TRUE,FALSE,Active +GARD:4305,Active,Orphanet,ORPHA:2871,Disorder,[Malformation syndrome],Pfeiffer-Palm-Teller syndrome,,"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.",[261560],,,,,Pfeiffer Palm Teller syndrome,TRUE,FALSE,Active +GARD:4306,Legacy,GARD,,,,,,,,,,,,Pfeiffer Rockelein syndrome,TRUE,FALSE,Active +GARD:4308,Legacy,GARD,,,,,,,,,,,,Pfeiffer Tietze Welte syndrome,TRUE,FALSE,Active +GARD:431,Active,Orphanet,ORPHA:83463,Disorder,[Morphological anomaly],Microtia,,"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","[128800, 600674]",,,,,Microtia-Anotia,TRUE,FALSE,Active +GARD:4311,Active,Orphanet,ORPHA:2874,Disorder,[Malformation syndrome],Phakomatosis pigmentokeratotica,,"Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.",,,,,,Phacomatosis pigmentokeratotica,TRUE,FALSE,Active +GARD:4312,Active,Orphanet,ORPHA:2875,Disorder,[Disease],Phakomatosis pigmentovascularis,,"A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.",,,,,,Phacomatosis pigmentovascularis,TRUE,FALSE,Active +GARD:4315,Active,Orphanet,ORPHA:1919,Disorder,[Malformation syndrome],Phenobarbital embryopathy,,"A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.",,,,,,Phenobarbital antenatal exposure,TRUE,FALSE,Active +GARD:4319,Active,Orphanet,ORPHA:226,Subtype of disorder,[Clinical subtype],Dihydropteridine reductase deficiency,"[Hyperphenylalaninemia due to dihydropteridine reductase deficiency, PKU type 2, Phenylketonuria type 2]","Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.",[261630],,,,,Dihydropteridine reductase deficiency,TRUE,FALSE,Active +GARD:432,Legacy,GARD,,,,,,,,,,,,Arbovirosis,TRUE,FALSE,Active +GARD:4321,Legacy,GARD,,,,,,,,,,,,Pheochromocytoma-islet cell tumor syndrome,TRUE,FALSE,Active +GARD:4323,Active,Orphanet,ORPHA:2878,Disorder,[Malformation syndrome],Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,"[Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome, Stoll-Lévy-Francfort syndrome]","Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.",[171480],,,,,Phocomelia ectrodactyly deafness sinus arrhythmia,TRUE,FALSE,Active +GARD:4329,Active,Orphanet,ORPHA:319646,Disorder,[Disease],PGM1-CDG,"[CDG syndrome type It, CDG-It, CDG1T, Congenital disorder of glycosylation type 1t, Congenital disorder of glycosylation type It, PGM1-related congenital disorder of glycosylation, Phosphoglucomutase-1 deficiency]","A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.",[614921],,,,,PGM1-CDG,TRUE,FALSE,Active +GARD:433,Active,Orphanet,ORPHA:320,Disorder,[Disease],Apparent mineralocorticoid excess,"[11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome]","A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.",[218030],,,,,Apparent mineralocorticoid excess,TRUE,FALSE,Active +GARD:4330,Legacy,GARD,,,,,,,,,,,,Phosphoglucomutase deficiency type 2,TRUE,FALSE,Retired +GARD:4331,Active,Orphanet,ORPHA:443811,Disorder,[Disease],PGM3-CDG,"[CID due to PGM3 deficiency, Combined immunodeficiency due to PGM3 deficiency, PGM3-related congenital disorder of glycosylation]","PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.",[615816],,,,,PGM3-CDG,TRUE,FALSE,Active +GARD:4332,Legacy,GARD,,,,,,,,,,,,Phosphoglucomutase deficiency type 4,TRUE,FALSE,Retired +GARD:4336,Legacy,GARD,,,,,,,,,,,,Phosphomannoisomerase deficiency,TRUE,FALSE,Active +GARD:4337,Active,Orphanet,ORPHA:3222,Disorder,[Disease],Phosphoribosylpyrophosphate synthetase superactivity,"[PRPP synthetase superactivity, PRPS1 superactivity]","A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.",[300661],,,,,Phosphoribosylpyrophosphate synthetase superactivity,TRUE,FALSE,Active +GARD:434,Active,Orphanet,ORPHA:2182,Subtype of disorder,[Clinical subtype],Hydrocephalus with stenosis of the aqueduct of Sylvius,"[Bickers-Adams syndrome, HSAS, X-linked HSAS, X-linked acqueductal stenosis, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius]","A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.",[307000],,,,,Hydrocephalus due to congenital stenosis of aqueduct of sylvius,TRUE,FALSE,Active +GARD:4340,Legacy,GARD,,,,,,,,,,,,PIBIDS syndrome,TRUE,FALSE,Retired +GARD:4341,Legacy,GARD,,,,,,,,,,,,Picardi-Lassueur-Little syndrome,TRUE,FALSE,Retired +GARD:4344,Active,Orphanet,ORPHA:2884,Disorder,[Disease],Piebaldism,,"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.",[172800],,,,,Piebaldism,TRUE,FALSE,Active +GARD:4345,Legacy,GARD,,,,,,,,,,,,Piepkorn Karp Hickok syndrome,TRUE,FALSE,Active +GARD:4346,Active,Orphanet,ORPHA:99,Group of disorders,[Category],Autosomal dominant cerebellar ataxia,"[ADCA, Autosomal dominant spinocerebellar ataxia]","A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.",,,,,,Autosomal dominant cerebellar ataxia,TRUE,FALSE,Active +GARD:4347,Active,Orphanet,ORPHA:718,Disorder,[Malformation syndrome],Isolated Pierre Robin syndrome,[Isolated Pierre Robin sequence],"A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.",[261800],,,,,Pierre Robin sequence,TRUE,FALSE,Active +GARD:435,Active,Orphanet,ORPHA:1995,Disorder,[Malformation syndrome],Cleft lip-retinopathy syndrome,"[Ausems-Wittebol Post-Hennekam syndrome, Cleft lip-cone rod dystrophy syndrome, Cleft lip-progressive retinopathy syndrome]",An exceedingly rare association characterized by cleft lip and progressive retinopathy.,,,,,,Ausems Wittebol-Post Hennekam syndrome,TRUE,FALSE,Active +GARD:4351,Legacy,GARD,,,,,,,,,,,,Weissenbacher-Zweymuller syndrome,TRUE,FALSE,Active +GARD:4354,Legacy,GARD,,,,,,,,,,,,Pierre Robin syndrome skeletal dysplasia polydactyly,TRUE,FALSE,Active +GARD:4356,Legacy,GARD,,,,,,,,,,,,Pigment-dispersion syndrome,TRUE,FALSE,Active +GARD:4357,Active,Orphanet,ORPHA:67042,Disorder,[Disease],Late-onset retinal degeneration,"[Autosomal dominant late-onset retinal degeneration, LORD]","Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.",[605670],,,,,Late-onset retinal degeneration,TRUE,FALSE,Active +GARD:4358,Active,Orphanet,ORPHA:169095,Disorder,[Disease],Severe combined immunodeficiency due to FOXN1 deficiency,"[Alymphoid cystic thymic dysgenesis, Nude/SCID, Nude/severe combined immunodeficiency, SCID due to FOXN1 deficiency, Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, Winged helix deficiency]","A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.","[601705, 618806]",,,,,"T-cell immunodeficiency, congenital alopecia and nail dystrophy",TRUE,FALSE,Active +GARD:4359,Active,Orphanet,ORPHA:169,Disorder,[Disease],Ringed hair disease,[Pili annulati],"A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.",[180600],,,,,Pili annulati,TRUE,FALSE,Active +GARD:436,Active,Orphanet,ORPHA:829,Disorder,[Disease],Adult-onset Still disease,"[AOSD, Wissler-Fanconi syndrome]","A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.",,,,,,Adult-onset Still's disease,TRUE,FALSE,Active +GARD:4360,Legacy,GARD,,,,,,,,,,,,Pili multigemini,FALSE,FALSE,Retired +GARD:4361,Active,Orphanet,ORPHA:2889,Disorder,[Disease],Pili torti,[Twisted hair],Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).,[261900],,,,,Pili torti,TRUE,FALSE,Active +GARD:4362,Active,Orphanet,ORPHA:2891,Disorder,[Malformation syndrome],Pili torti-developmental delay-neurological abnormalities syndrome,,"Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.",[261990],,,,,Pili torti developmental delay neurological abnormalities,TRUE,FALSE,Active +GARD:4364,Active,Orphanet,ORPHA:2890,Disorder,[Malformation syndrome],Pili torti-onychodysplasia syndrome,,"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.",,,,,,Pili torti onychodysplasia,TRUE,FALSE,Active +GARD:4365,Active,Orphanet,ORPHA:2741,Disorder,[Malformation syndrome],Ophthalmomandibulomelic dysplasia,"[OMM syndrome, Pillay syndrome]","Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.",[164900],,,,,Pillay syndrome,TRUE,FALSE,Active +GARD:4366,Legacy,GARD,,,,,,,,,,,,Pilo dento ungular dysplasia microcephaly,TRUE,FALSE,Retired +GARD:4368,Legacy,GARD,,,,,,,,,,,,Pilotto syndrome,TRUE,FALSE,Active +GARD:4369,Active,Orphanet,ORPHA:3353,Disorder,[Malformation syndrome],Trichodermodysplasia-dental alterations syndrome,[Pinheiro-Freire Maia-Miranda syndrome],"Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.",,,,,,Pinheiro Freire-Maia Miranda syndrome,TRUE,FALSE,Active +GARD:4370,Legacy,GARD,,,,,,,,,,,,Microphthalmia mental deficiency,TRUE,FALSE,Retired +GARD:4371,Legacy,GARD,,,,,,,,,,,,Refsum disease with increased pipecolic acidemia,TRUE,FALSE,Active +GARD:4372,Active,Orphanet,ORPHA:2896,Disorder,[Malformation syndrome],Pitt-Hopkins syndrome,,"A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.",[610954],,,,,Pitt-Hopkins syndrome,TRUE,FALSE,Active +GARD:4374,Legacy,GARD,,,,,,,,,,,,Pitt syndrome,TRUE,FALSE,Retired +GARD:4375,Active,Orphanet,ORPHA:1078,Disorder,[Malformation syndrome],Thumb stiffness-brachydactyly-intellectual disability syndrome,[Piussan-Lenaerts-Mathieu syndrome],"A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.",[188201],,,,,Piussan Lenaerts Mathieu syndrome,TRUE,FALSE,Active +GARD:4377,Legacy,GARD,,,,,,,,,,,,Plagiocephaly and X-linked mental retardation,TRUE,FALSE,Retired +GARD:4379,Legacy,GARD,,,,,,,,,,,,Plasmalogens synthesis deficiency isolated,TRUE,FALSE,Retired +GARD:438,Active,Orphanet,ORPHA:62,Disorder,[Disease],Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,"[Alpha-sarcoglycan-related LGMD R3, Alpha-sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D, LGMD due to alpha-sarcoglycan deficiency, LGMD type 2D, LGMD2D, Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2D]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.",[608099],,,,,"Limb-girdle muscular dystrophy, type 2D",TRUE,FALSE,Active +GARD:4380,Active,Orphanet,ORPHA:722,Disorder,[Disease],Hypoplasminogenemia,[Plasminogen deficiency type 1],A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.,[217090],,,,,Type 1 plasminogen deficiency,TRUE,FALSE,Active +GARD:4381,Active,Orphanet,ORPHA:465,Disorder,[Disease],Congenital plasminogen activator inhibitor type 1 deficiency,[Congenital PAI-1 deficiency],A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.,[613329],,,,,Plasminogen activator inhibitor type 1 deficiency,TRUE,FALSE,Active +GARD:4382,Active,Orphanet,ORPHA:85166,Disorder,[Malformation syndrome],"Platyspondylic dysplasia, Torrance type","[PLSD-T, Platyspondylic dysplasia, Torrance-Luton type, Platyspondylic lethal skeletal dysplasia, Torrance type]","Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.",[151210],,,,,Platyspondylic lethal skeletal dysplasia Torrance type,TRUE,FALSE,Active +GARD:4386,Active,Orphanet,ORPHA:723,Disorder,[Disease],Pneumocystosis,,"Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.",,,,,,Pneumocystosis,TRUE,FALSE,Active +GARD:4387,Legacy,GARD,,,,,,,,,,,,Podder-Tolmie syndrome,TRUE,FALSE,Active +GARD:439,Legacy,GARD,,,,,,,,,,,,Abdominal cystic lymphangioma,TRUE,FALSE,Active +GARD:4391,Active,Orphanet,ORPHA:2908,Disorder,[Disease],Kindler epidermolysis bullosa,"[Congenital bullous poikiloderma, Kindler syndrome, Poikiloderma of Kindler]",A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.,,,,,,Kindler syndrome,TRUE,FALSE,Active +GARD:4392,Active,Orphanet,ORPHA:2909,Disorder,[Disease],Rothmund-Thomson syndrome,"[Poikiloderma of Rothmund-Thomson, RTS]","Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.",[268400],,,,,Rothmund-Thomson syndrome,TRUE,FALSE,Active +GARD:4395,Legacy,GARD,,,,,,,,,,,,Pointer syndrome,TRUE,FALSE,Active +GARD:44,Active,Orphanet,ORPHA:2342,Disorder,[Disease],Haim-Munk syndrome,"[Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome]","Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.",[245010],,,,,Haim-Munk syndrome,TRUE,FALSE,Active +GARD:4404,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 1",FALSE,FALSE,Retired +GARD:4405,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 2",FALSE,FALSE,Retired +GARD:4406,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 3",FALSE,FALSE,Retired +GARD:4410,Active,Orphanet,ORPHA:2913,Group of disorders,[Category],Non-syndromic polydactyly,,,[603596],,,,,Polydactyly,TRUE,FALSE,Active +GARD:4412,Active,Orphanet,ORPHA:2754,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 6,"[Joubert syndrome with oral-facial-digital syndrome, Joubert syndrome with orofaciodigital defect, OFD6, Oral-facial-digital syndrome type 6, Polydactyly-cleft lip/palate-psychomotor retardation syndrome, Váradi syndrome, Váradi-Papp syndrome]","Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.","[615665, 277170, 300804, 618763, 614815, 617127]",,,,,Orofaciodigital syndrome 6,TRUE,FALSE,Active +GARD:4413,Active,Orphanet,ORPHA:2917,Disorder,[Malformation syndrome],Polydactyly-myopia syndrome,[Czeizel-Brooser syndrome],Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.,[174310],,,,,Polydactyly myopia syndrome,TRUE,FALSE,Active +GARD:4414,Active,Orphanet+OMIM,OMIM:174200,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a1","[Postaxial polydactyly, type a, polydactyly, postaxial]","Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by {17:Umm-e-Kalsoom et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Postaxial Polydactyly\n\nOther forms of postaxial polydactyly type A include PAPA2 ({602085}) on chromosome 13q21; PAPA3 ({607324}) on chromosome 19p13; PAPA4 ({608562}) on chromosome 7q22; PAPA5 ({263450}) on chromosome 13q13; PAPA6 ({615226}), caused by mutation in the ZNF141 gene ({194648}) on chromosome 4p16; PAPA7 ({617642}), caused by mutation in the IQCE gene ({617631}) on chromosome 7p22; PAPA8 ({618123}), caused by mutation in the GLI1 gene ({165220}) on chromosome 12q13; PAPA9 ({618219}), caused by mutation in the FAM98A gene ({617273}) on chromosome 8q22; and PAPA10 ({618498}), caused by mutation in the KIAA0825 gene ({617266}) on chromosome 5q15.",[174200],[93334],[Postaxial polydactyly type A],[16817],,Polydactyly postaxial,TRUE,FALSE,Retired +GARD:4415,Legacy,GARD,,,,,,,,,,,,Polydactyly postaxial dental and vertebral,TRUE,FALSE,Active +GARD:4417,Active,Orphanet,ORPHA:93339,Disorder,[Morphological anomaly],Polydactyly of a biphalangeal thumb,"[PPD1, Preaxial polydactyly type 1]","Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.",[174400],,,,,Preaxial polydactyly type 1,TRUE,FALSE,Active +GARD:4418,Legacy,GARD,,,,,,,,,,,,Polydactyly syndrome middle ray duplication,TRUE,FALSE,Active +GARD:4420,Legacy,GARD,,,,,,,,,,,,Polymicrogyria turricephaly hypogenitalism,TRUE,FALSE,Retired +GARD:4421,Active,Orphanet,ORPHA:3286,Disorder,[Disease],Catecholaminergic polymorphic ventricular tachycardia,"[Bidirectional ventricular tachycardia induced by catecholamine, CPVT, Malignant paroxysmal ventricular tachycardia, Polymorphic ventricular tachycardia induced by catecholamines]","A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.","[615441, 614021, 611938, 614916, 604772]",,,,,Catecholaminergic polymorphic ventricular tachycardia,TRUE,FALSE,Active +GARD:4424,Active,Orphanet,ORPHA:2928,Disorder,[Malformation syndrome],Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,[Lundberg syndrome],"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.",,,,,,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,TRUE,FALSE,Active +GARD:4427,Active,Orphanet,ORPHA:2930,Disorder,[Disease],Cronkhite-Canada syndrome,"[Gastrointestinal polyposis-ectodermal changes syndrome, Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome]","Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.",[175500],,,,,Cronkhite-Canada disease,TRUE,FALSE,Active +GARD:4428,Active,Orphanet,ORPHA:2934,Disorder,[Malformation syndrome],Polysyndactyly-cardiac malformation syndrome,[Bonneau syndrome],"A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.",[263630],,,,,Polysyndactyly cardiac malformation,TRUE,FALSE,Active +GARD:4432,Legacy,GARD,,,,,,,,,,,,Polysyndactyly trigonocephaly agenesis of corpus callosum,TRUE,FALSE,Retired +GARD:4434,Active,Orphanet,ORPHA:93405,Disorder,[Morphological anomaly],Syndactyly type 4,"[Polysyndactyly, Haas type]","A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.",[186200],,,,,Syndactyly type 4,TRUE,FALSE,Active +GARD:4435,Legacy,GARD,,,,,,,,,,,,Poncet-Spiegler's cylindroma,TRUE,FALSE,Active +GARD:4436,Active,Orphanet,ORPHA:1234,Disorder,[Malformation syndrome],Bartsocas-Papas syndrome,"[Autosomal recessive popliteal pterygium syndrome, Lethal popliteal pterygium syndrome]","Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.","[263650, 619339]",,,,,"Popliteal pterygium syndrome, Bartsocas-Papas type",TRUE,FALSE,Active +GARD:4437,Active,Orphanet,ORPHA:2941,Disorder,[Malformation syndrome],Porencephaly-cerebellar hypoplasia-internal malformations syndrome,[Bonnemann-Meinecke syndrome],"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.",[601322],,,,,Porencephaly cerebellar hypoplasia internal malformations,TRUE,FALSE,Active +GARD:4438,Active,Orphanet,ORPHA:735,Disorder,[Disease],Porokeratosis of Mibelli,,"A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.","[175900, 175800]",,,,,Porokeratosis of Mibelli,TRUE,FALSE,Active +GARD:4439,Active,Orphanet,ORPHA:79502,Disorder,[Disease],Punctate palmoplantar keratoderma type 2,"[PPKP2, PPPP, Punctate palmoplantar hyperkeratosis type 2]","Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.",[175860],,,,,Punctate palmoplantar keratoderma type 2,TRUE,FALSE,Active +GARD:4445,Legacy,GARD,,,,,,,,,,,,Aminolevulinate dehydratase deficiency porphyria,TRUE,FALSE,Active +GARD:4446,Active,Orphanet,ORPHA:79277,Disorder,[Disease],Congenital erythropoietic porphyria,"[CEP, Günther disease]","Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.",[263700],,,,,Congenital erythropoietic porphyria,TRUE,FALSE,Active +GARD:4449,Legacy,GARD,,,,,,,,,,,,Portal hypertension due to infrahepatic block,TRUE,FALSE,Retired +GARD:4453,Legacy,GARD,,,,,,,,,,,,Positive rheumatoid factor polyarthritis,TRUE,FALSE,Active +GARD:4454,Active,Orphanet,ORPHA:2942,Disorder,[Disease],Postpoliomyelitis syndrome,"[Postpolio sequelae, Postpolio syndrome, Postpoliomyelitic syndrome, Postpoliomyelitis sequelae]","Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.",,,,,,Post Polio syndrome,TRUE,FALSE,Active +GARD:4456,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly mental retardation,TRUE,FALSE,Retired +GARD:4457,Active,Orphanet,ORPHA:280892,Group of disorders,[Category],Posterior uveitis,[Choroiditis],,,,,,,Posterior uveitis,TRUE,FALSE,Active +GARD:4458,Legacy,GARD,,,,,,,,,,,,Posterior valve urethra,TRUE,FALSE,Retired +GARD:4459,Active,Orphanet,ORPHA:612,Group of disorders,[Clinical group],Potassium-aggravated myotonia,"[K+-aggravated myotonia, K-aggravated myotonia, PAM]","A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.",[608390],,,,,Potassium aggravated myotonia,TRUE,FALSE,Active +GARD:4460,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 1,TRUE,FALSE,Retired +GARD:4461,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 3,TRUE,FALSE,Retired +GARD:4462,Legacy,GARD,,,,,,,,,,,,Potter sequence,TRUE,FALSE,Active +GARD:4463,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 2,TRUE,FALSE,Retired +GARD:4464,Legacy,GARD,,,,,,,,,,,,Powell Buist Stenzel syndrome,TRUE,FALSE,Retired +GARD:4465,Active,Orphanet,ORPHA:2876,Disorder,[Malformation syndrome],PHAVER syndrome,[Powell-Chandra-Saal syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.",[261575],,,,,PHAVER syndrome,TRUE,FALSE,Active +GARD:4466,Legacy,GARD,,,,,,,,,,,,Venencie Powell Gordon Winkelmann syndrome,TRUE,FALSE,Retired +GARD:4468,Legacy,GARD,,,,,,,,,,,,Prata Libéral Gonçalves syndrome,TRUE,FALSE,Retired +GARD:4470,Active,Orphanet,ORPHA:2957,Disorder,[Malformation syndrome],Guttmacher syndrome,[Preaxial deficiency-postaxial polydactyly-hypospadias syndrome],"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.",[176305],,,,,"Preaxial deficiency, postaxial polydactyly and hypospadias",TRUE,FALSE,Active +GARD:4472,Legacy,GARD,,,,,,,,,,,,Precocious epileptic encephalopathy,TRUE,FALSE,Retired +GARD:4473,Legacy,GARD,,,,,,,,,,,,Precocious myoclonic encephalopathy,TRUE,FALSE,Retired +GARD:4474,Legacy,GARD,,,,,,,,,,,,"Precocious puberty, gonadotropin-dependent",TRUE,FALSE,Active +GARD:4475,Active,Orphanet,ORPHA:3000,Disorder,[Disease],Familial male-limited precocious puberty,"[FMPP, Familial gonadotropin-independent male-limited sexual precocity, Male-limited precocious puberty, Testotoxicosis]","Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.",[176410],,,,,Testotoxicosis,TRUE,FALSE,Active +GARD:4476,Legacy,GARD,,,,,,,,,,,,Preeyasombat Varavithya syndrome,TRUE,FALSE,Retired +GARD:4477,Active,Orphanet,ORPHA:749,Disorder,[Disease],Congenital prekallikrein deficiency,,"A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.",[612423],,,,,"Prekallikrein deficiency, congenital",TRUE,FALSE,Active +GARD:4478,Legacy,GARD,,,,,,,,,,,,Premature aging Okamoto type,TRUE,FALSE,Active +GARD:4479,Legacy,GARD,,,,,,,,,,,,"Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an",TRUE,FALSE,Retired +GARD:448,Active,Orphanet,ORPHA:1493,Disorder,[Malformation syndrome],Vici syndrome,"[Corpus callosum agenesis-cataract-immunodeficiency syndrome, Dionisi-Vici-Sabetta-Gambarara syndrome]","Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.",[242840],,,,,Vici syndrome,TRUE,FALSE,Active +GARD:4480,Legacy,GARD,,,,,,,,,,,,FMR1-related primary ovarian insufficiency,TRUE,FALSE,Active +GARD:4482,Active,Orphanet,ORPHA:2958,Disorder,[Malformation syndrome],X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,[Prieto-Badia-Mulas syndrome],"An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.",[309610],,,,,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,TRUE,FALSE,Active +GARD:4483,Active,Orphanet,ORPHA:79477,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 2,"[Griscelli-Pruniéras syndrome type 2, Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome]","A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.",[607624],,,,,Griscelli syndrome type 2,TRUE,FALSE,Active +GARD:4484,Active,Orphanet,ORPHA:244,Disorder,[Disease],Primary ciliary dyskinesia,[PCD],"A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).","[300991, 615500, 618063, 618695, 608647, 242680, 244400, 613193, 617577, 617091, 614935, 616481, 615067, 617092, 615444, 615872, 612649, 612650, 215518, 612274, 608644, 215520, 610852, 614017, 242670, 608646, 614679, 614874, 611884, 616726, 618781, 613808, 612444, 616037, 612518, 618449, 615451, 606763, 615481, 615482, 615504, 615505, 618801, 613807, 615294]",,,,,Primary ciliary dyskinesia,TRUE,FALSE,Active +GARD:4485,Active,Orphanet,ORPHA:247604,Disorder,[Disease],Juvenile primary lateral sclerosis,"[JPLS, Juvenile PLS]","A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.",[606353],,,,,Juvenile primary lateral sclerosis,TRUE,FALSE,Active +GARD:4486,Legacy,GARD,,,,,,,,,,,,Primary malignant lymphoma,TRUE,FALSE,Retired +GARD:4487,Legacy,GARD,,,,,,,,,,,,Primary tubular proximal acidosis,TRUE,FALSE,Active +GARD:4488,Active,Orphanet,ORPHA:3042,Disorder,[Malformation syndrome],Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,[Primrose syndrome],"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.",[259050],,,,,Primrose syndrome,TRUE,FALSE,Active +GARD:4491,Legacy,GARD,,,,,,,,,,,,"Proconvertin deficiency, congenital",TRUE,FALSE,Retired +GARD:4494,Active,Orphanet,ORPHA:2959,Disorder,[Malformation syndrome],Progeria-short stature-pigmented nevi syndrome,[Mulvihill-Smith syndrome],"Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.",[176690],,,,,Progeroid short stature with pigmented nevi,TRUE,FALSE,Active +GARD:4495,Legacy,GARD,,,,,,,,,,,,Progeria variant syndrome Ruvalcaba type,TRUE,FALSE,Retired +GARD:4497,Active,Orphanet,ORPHA:2963,Disorder,[Malformation syndrome],"Progeroid syndrome, Petty type","[Fontaine progeroid syndrome, Petty syndrome, Petty-Laxova-Wiedemann syndrome]","Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.",[612289],,,,,Progeroid syndrome Petty type,TRUE,FALSE,Active +GARD:4498,Legacy,GARD,,,,,,,,,,,,"Progeroid syndrome, Penttinen type",TRUE,FALSE,Retired +GARD:45,Active,Orphanet,ORPHA:291,Disorder,[Disease],Congenital varicella syndrome,"[Antenatal varicella virus infection, Mother-to-child transmission of varicella syndrome]","A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.",,,,,,Congenital varicella syndrome,TRUE,FALSE,Active +GARD:4500,Active,Orphanet,ORPHA:39,Disorder,[Disease],Acromelanosis,,"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.",,,,,,Acromelanosis,TRUE,FALSE,Active +GARD:4501,Legacy,GARD,,,,,,,,,,,,Progressive black carbon hyperpigmentation of infancy,TRUE,FALSE,Retired +GARD:4503,Active,Orphanet,ORPHA:520820,Group of disorders,[Category],Progressive external ophthalmoplegia,,,,,,,,Chronic progressive external ophthalmoplegia,TRUE,FALSE,Active +GARD:4504,Active,Orphanet+OMIM,OMIM:304400,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 2","[Deafness, conductive, with stapes fixation, deafness 3, conductive, with stapes fixation, nance deafness, deafness, mixed, with perilymphatic gusher, sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear, perilymphatic gusher-deafness syndrome]","DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by {11:de Kok et al., 1995} and {29:Song et al., 2010}).\n\nSee also choroideremia, deafness, and mental retardation ({303110}), a contiguous gene deletion syndrome involving the POU3F4 and CHM ({300390}) genes on Xq21; isolated choroideremia ({303100}) is caused by mutation in the CHM gene.",[304400],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,"Deafness, X-linked 2",TRUE,FALSE,Active +GARD:4505,Legacy,GARD,,,,,,,,,,,,"Progressive kinking of the hair, acquired",TRUE,FALSE,Active +GARD:4507,Active,Orphanet,ORPHA:99750,Subtype of disorder,[Clinical subtype],Atypical progressive supranuclear palsy syndrome,[Atypical PSP syndrome],"A form or progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI).",[260540],,,,,Progressive supranuclear palsy atypical,TRUE,FALSE,Active +GARD:4508,Active,Orphanet,ORPHA:2965,Disorder,[Disease],Prolactinoma,"[Lactotroph adenoma, PRL-secreting pituitary adenoma, PRLoma, Pituitary lactotrophic adenoma, Prolactin-secreting pituitary adenoma]","A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.",,,,,,Prolactinoma,TRUE,FALSE,Active +GARD:4509,Active,Orphanet,ORPHA:492,Disorder,[Disease],Proliferating trichilemmal cyst,,"A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.",,,,,,Proliferating trichilemmal cyst,TRUE,FALSE,Active +GARD:4513,Active,Orphanet,ORPHA:2966,Disorder,[Disease],Properdin deficiency,,"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.",[312060],,,,,Properdin deficiency,TRUE,FALSE,Active +GARD:4518,Active,Orphanet,ORPHA:1126,Disorder,[Malformation syndrome],Aprosencephaly cerebellar dysgenesis,,"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.",[601374],,,,,Prosencephaly cerebellar dysgenesis,TRUE,FALSE,Retired +GARD:4520,Active,Orphanet,ORPHA:1331,Disorder,[Disease],Familial prostate cancer,,"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.","[610997, 603688, 609299, 611928, 611100, 601518, 602759, 611958, 300704, 608656, 614731, 611959, 609558, 608658, 610321, 300147, 611868, 611955, 176807]",,,,,Familial prostate cancer,TRUE,FALSE,Active +GARD:4521,Legacy,GARD,,,,,,,,,,,,Protein C deficiency,FALSE,FALSE,Active +GARD:4522,Active,Orphanet,ORPHA:2967,Disorder,[Disease],Transcobalamin I deficiency,"[Haptocorrin deficiency, TCI deficiency, Transcobalamin-1 deficiency]","A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.",[193090],,,,,Protein R deficiency,TRUE,FALSE,Retired +GARD:4524,Legacy,GARD,,,,,,,,,,,,Protein S deficiency,TRUE,FALSE,Active +GARD:4525,Legacy,GARD,,,,,,,,,,,,Proteus like syndrome mental retardation eye defect,TRUE,FALSE,Retired +GARD:4527,Active,Orphanet,ORPHA:79278,Disorder,[Disease],Autosomal erythropoietic protoporphyria,[EPP],"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.",[177000],,,,,Autosomal erythropoietic protoporphyria,TRUE,FALSE,Active +GARD:4528,Active,Orphanet,ORPHA:2508,Disorder,[Malformation syndrome],Corpus callosum agenesis-abnormal genitalia syndrome,"[ACC-abnormal genitalia syndrome, Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, Proud syndrome, Proud-Levine-Carpenter syndrome]","Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.",[300004],,,,,Proud syndrome,TRUE,FALSE,Active +GARD:453,Active,Orphanet,ORPHA:90301,Disorder,[Disease],Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,,"This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.",[200170],,,,,Acanthosis nigricans muscle cramps acral enlargement,TRUE,FALSE,Active +GARD:4531,Active,Orphanet,ORPHA:70,Disorder,[Disease],Proximal spinal muscular atrophy,[SMA],Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.,"[253400, 253550, 271150, 253300]",,,,,Proximal spinal muscular atrophy,TRUE,FALSE,Active +GARD:4532,Legacy,GARD,,,,,,,,,,,,"Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA",TRUE,FALSE,Active +GARD:4536,Active,Orphanet,ORPHA:129,Disorder,[Disease],Pseudopelade of Brocq,,"Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.",,,,,,Pseudopelade of Brocq,TRUE,FALSE,Active +GARD:4538,Legacy,GARD,,,,,,,,,,,,Pseudo-Turner syndrome,TRUE,FALSE,Active +GARD:4539,Active,Orphanet,ORPHA:300,Disorder,[Disease],Bifunctional enzyme deficiency,,"A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.",[261515],,,,,D-bifunctional protein deficiency,TRUE,FALSE,Active +GARD:454,Active,Orphanet,ORPHA:674,Disorder,[Morphological anomaly],Accessory pancreas,,"A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.",,,,,,Accessory pancreas,TRUE,FALSE,Active +GARD:4540,Active,Orphanet,ORPHA:750,Disorder,[Disease],Pseudoachondroplasia,"[Pseudoachondroplastic dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia]",Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.,[177170],,,,,Pseudoachondroplasia,TRUE,FALSE,Active +GARD:4542,Legacy,GARD,,,,,,,,,,,,Pseudoachondroplastic dysplasia 2,TRUE,FALSE,Active +GARD:4543,Active,Orphanet,ORPHA:2971,Disorder,[Disease],Peroxisomal acyl-CoA oxidase deficiency,"[Pseudo-NALD, Pseudo-neonatal adrenoleukodystrophy, Pseudoadrenoleukodystrophy]",Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.,[264470],,,,,Pseudoneonatal adrenoleukodystrophy,TRUE,FALSE,Active +GARD:4544,Active,Orphanet,ORPHA:221120,Disorder,[Malformation syndrome],Pseudoaminopterin syndrome,"[ASSA, Aminopterin syndrome-like sine aminopterin]","Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.",[600325],,,,,Pseudoaminopterin syndrome,TRUE,FALSE,Active +GARD:4545,Legacy,GARD,,,,,,,,,,,,Pseudoarylsulfatase A deficiency,TRUE,FALSE,Retired +GARD:4547,Legacy,GARD,,,,,,,,,,,,Pseudohermaphrodism anorectal anomalies,TRUE,FALSE,Active +GARD:455,Active,Orphanet+OMIM,OMIM:200400,Subtype of disorder,[Disease subtype],"Achalasia, familial esophageal",,"Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by {4:Farrokhi and Vaezi, 2007} and {6:Gockel et al., 2010}).",[200400],[930],[Idiopathic achalasia],[5708],,Familial esophageal achalasia,TRUE,FALSE,Retired +GARD:4550,Active,Orphanet,ORPHA:2983,Disorder,[Disease],Disorder of sex development-intellectual disability syndrome,[Verloes-Gillerot-Fryns syndrome],"A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.",[600122],,,,,"Male pseudohermaphroditism intellectual disability syndrome, Verloes type",TRUE,FALSE,Active +GARD:4552,Active,Orphanet,ORPHA:171876,Subtype of disorder,[Clinical subtype],Generalized pseudohypoaldosteronism type 1,"[Autosomal recessive PHA1, Autosomal recessive pseudohypoaldosteronism type 1, Generalized PHA1]","A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.",[264350],,,,,Autosomal recessive pseudohypoaldosteronism type 1,TRUE,FALSE,Active +GARD:4553,Active,Orphanet,ORPHA:757,Disorder,[Disease],Pseudohypoaldosteronism type 2,"[Chloride shunt syndrome, Familial hyperkalemic hypertension, Gordon hyperkalemia-hypertension syndrome, Hyperkalemia-hypertension syndrome, Gordon type, Hypertensive hyperkalemia, Mineralocorticoid resistant hyperkalemia, PHA2, PHAII, Spitzer-Weinstein syndrome]","A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).","[614496, 614495, 145260, 614491, 614492]",,,,,Pseudohypoaldosteronism type 2,TRUE,FALSE,Active +GARD:4555,Legacy,GARD,,,,,,,,,,,,Pseudomarfanism,TRUE,FALSE,Retired +GARD:4556,Legacy,GARD,,,,,,,,,,,,Pseudomongolism,TRUE,FALSE,Retired +GARD:4559,Active,Orphanet,ORPHA:2980,Disorder,[Malformation syndrome],Acrootoocular syndrome,[Pseudopapilledema-blepharophimosis-hand anomalies syndrome],"A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.",[264475],,,,,Pseudopapilledema blepharophimosis hand anomalies,TRUE,FALSE,Active +GARD:456,Active,Orphanet,ORPHA:929,Disorder,[Malformation syndrome],Achalasia-microcephaly syndrome,,"An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.",[200450],,,,,Achalasia microcephaly syndrome,TRUE,FALSE,Active +GARD:4561,Active,Orphanet,ORPHA:238624,Disorder,[Disease],Idiopathic intracranial hypertension,"[Benign intracranial hypertension, IIH, Pseudotumor cerebri]","Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.",[243200],,,,,Idiopathic intracranial hypertension,TRUE,FALSE,Active +GARD:4563,Legacy,GARD,,,,,,,,,,,,"Pseudoxanthoma elasticum, dominant form",TRUE,FALSE,Retired +GARD:4564,Legacy,GARD,,,,,,,,,,,,"Pseudoxanthoma elasticum, recessive form",TRUE,FALSE,Retired +GARD:4566,Legacy,GARD,,,,,,,,,,,,Pterygium Colli,TRUE,FALSE,Retired +GARD:4568,Active,Orphanet,ORPHA:2988,Disorder,[Malformation syndrome],Pterygium colli-intellectual disability-digital anomalies syndrome,[Khalifa-Graham syndrome],"A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.",[600159],,,,,Pterygium colli mental retardation digital anomalies,TRUE,FALSE,Retired +GARD:4569,Active,Orphanet,ORPHA:2989,Disorder,[Morphological anomaly],Familial pterygium of the conjunctiva,,"A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.",[178000],,,,,Pterygium of the conjunctiva and cornea,TRUE,FALSE,Active +GARD:457,Active,Orphanet,ORPHA:869,Disorder,[Disease],Triple A syndrome,"[2A syndrome, 3A syndrome, 4A syndrome, AAA syndrome, Achalasia-addisonianism-alacrima syndrome, Adrenal insufficiency-achalasia-alacrima syndrome, Allgrove syndrome, Double A syndrome, Quaternary A syndrome]","Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.","[615510, 231550]",,,,,Triple A syndrome,TRUE,FALSE,Active +GARD:4570,Active,Orphanet,ORPHA:2987,Disorder,[Malformation syndrome],Antecubital pterygium syndrome,,"A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.",[178200],,,,,Antecubital pterygium,TRUE,FALSE,Active +GARD:4573,Active,Orphanet,ORPHA:79447,Disorder,[Malformation syndrome],X-linked lethal multiple pterygium syndrome,,"X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.",[312150],,,,,Multiple pterygium syndrome X-linked,TRUE,FALSE,Active +GARD:4574,Legacy,GARD,,,,,,,,,,,,Ptosis coloboma mental retardation,TRUE,FALSE,Retired +GARD:4576,Legacy,GARD,,,,,,,,,,,,Ptosis strabismus diastasis,TRUE,FALSE,Retired +GARD:4577,Active,Orphanet,ORPHA:2999,Disorder,[Malformation syndrome],Ptosis-strabismus-ectopic pupils syndrome,[McPherson-Hall syndrome],"A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.",[178330],,,,,Ptosis strabismus ectopic pupils,TRUE,FALSE,Active +GARD:458,Active,Orphanet,ORPHA:168555,Disorder,[Disease],"Spondylometaphyseal dysplasia, A4 type",,"Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.",[609052],,,,,Spondylometaphyseal dysplasia type A4,TRUE,FALSE,Active +GARD:4582,Active,Orphanet,ORPHA:264675,Disorder,[Disease],Hereditary pulmonary alveolar proteinosis,"[Congenital PAP, Congenital pulmonary alveolar proteinosis]","A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.","[614370, 300770]",,,,,Congenital pulmonary alveolar proteinosis,TRUE,FALSE,Active +GARD:4584,Active,Orphanet,ORPHA:2038,Disorder,[Morphological anomaly],Pulmonary arteriovenous malformation,[PAVM],An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.,[265140],,,,,Pulmonary arterio-veinous fistula,TRUE,FALSE,Active +GARD:4585,Legacy,GARD,,,,,,,,,,,,Pulmonary artery agenesis,TRUE,FALSE,Active +GARD:4586,Active,Orphanet,ORPHA:99050,Disorder,[Morphological anomaly],Abnormal origin of right or left pulmonary artery from the aorta,"[Hemitruncus arteriosus, Pulmonary artery coming from the aorta]","A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.",,,,,,Pulmonary artery coming from the aorta,TRUE,FALSE,Active +GARD:4587,Legacy,GARD,,,,,,,,,,,,Pulmonary artery familial dilatation,TRUE,FALSE,Active +GARD:4588,Active,Orphanet,ORPHA:1207,Disorder,[Morphological anomaly],Pulmonary atresia with ventricular septal defect,,"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).",[178370],,,,,Pulmonary atresia with ventricular septal defect,TRUE,FALSE,Active +GARD:4589,Active,Orphanet,ORPHA:99084,Disorder,[Morphological anomaly],Peripheral pulmonary stenosis,"[Branch pulmonary artery stenosis, Pulmonary branch stenosis]","Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.",,,,,,Congenital pulmonary artery branch stenosis,TRUE,FALSE,Active +GARD:459,Active,Orphanet,ORPHA:93299,Subtype of disorder,[Clinical subtype],Achondrogenesis type 1A,"[Achondrogenesis, Houston-Harris type]","A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.",[200600],,,,,Achondrogenesis type 1A,TRUE,FALSE,Active +GARD:4592,Legacy,GARD,,,,,,,,,,,,"Pulmonary hypoplasia, familial primary",TRUE,FALSE,Active +GARD:4593,Active,Orphanet,ORPHA:3161,Disorder,[Malformation syndrome],Congenital pulmonary sequestration,[Congenital bronchopulmonary sequestration],"Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.",,,,,,Pulmonary sequestration,TRUE,FALSE,Active +GARD:4594,Active,Orphanet,ORPHA:3192,Subtype of disorder,[Clinical subtype],Supravalvular pulmonary stenosis,,,,,,,,Pulmonary supravalvular stenosis,TRUE,FALSE,Active +GARD:4595,Legacy,GARD,,,,,,,,,,,,"Pulmonary surfactant protein B, deficiency of",TRUE,FALSE,Active +GARD:4596,Legacy,GARD,,,,,,,,,,,,Pulmonary valve stenosis,TRUE,FALSE,Active +GARD:4597,Active,Orphanet,ORPHA:982,Group of disorders,[Clinical group],Pulmonary valve agenesis,"[Absent pulmonary valve syndrome, Congenital absence of the pulmonary valve, PVA]","Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.",,,,,,Pulmonary valves agenesis,TRUE,FALSE,Active +GARD:4598,Active,Orphanet,ORPHA:3188,Disorder,[Morphological anomaly],Congenital pulmonary veins atresia or stenosis,,"A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.",,,,,,Pulmonary vein stenosis,TRUE,FALSE,Active +GARD:4599,Active,Orphanet,ORPHA:3090,Group of disorders,[Clinical group],Congenital pulmonary venous return anomaly,[Congenital pulmonary venous connection anomaly],"A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.",,,,,,Pulmonary venous return anomaly,TRUE,FALSE,Active +GARD:46,Legacy,GARD,,,,,,,,,,,,Corticobasal degeneration,TRUE,FALSE,Active +GARD:460,Active,Orphanet,ORPHA:93298,Subtype of disorder,[Clinical subtype],Achondrogenesis type 1B,"[Achondrogenesis, Parenti-Fraccaro type]","A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.",[600972],,,,,Achondrogenesis type 1B,TRUE,FALSE,Active +GARD:4600,Active,Orphanet,ORPHA:1208,Disorder,[Morphological anomaly],Pulmonary atresia-intact ventricular septum syndrome,,"A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.",[265150],,,,,Pulmonary atresia with intact ventricular septum,TRUE,FALSE,Active +GARD:4603,Active,Orphanet,ORPHA:99710,Disorder,[Disease],Punctate acrokeratoderma freckle-like pigmentation,,A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.,,,,,,Punctate acrokeratoderma freckle like pigmentation,TRUE,FALSE,Retired +GARD:4606,Active,Orphanet,ORPHA:760,Disorder,[Disease],Purine nucleoside phosphorylase deficiency,"[PNP deficiency, PNPase deficiency]","A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.",[613179],,,,,Purine nucleoside phosphorylase deficiency,TRUE,FALSE,Active +GARD:4607,Active,Orphanet,ORPHA:93585,Subtype of disorder,[Clinical subtype],Immune-mediated thrombotic thrombocytopenic purpura,"[Acquired TTP, Acquired thrombotic thrombocytopenic purpura, Autoimmune thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies, aTTP, iTTP]","A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.",,,,,,"Thrombotic thrombocytopenic purpura, acquired",TRUE,FALSE,Active +GARD:4610,Active,Orphanet,ORPHA:3003,Disorder,[Malformation syndrome],Pyknoachondrogenesis,[Camera syndrome],A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.,[265880],,,,,Pyknoachondrogenesis,TRUE,FALSE,Active +GARD:4611,Active,Orphanet,ORPHA:763,Disorder,[Disease],Pycnodysostosis,[Pyknodysostosis],"Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.",[265800],,,,,Pycnodysostosis,TRUE,FALSE,Active +GARD:4612,Active,Orphanet,ORPHA:3005,Disorder,[Disease],Pyle disease,"[Metaphyseal dysplasia, Pyle type]","A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.",[265900],,,,,Pyle disease,TRUE,FALSE,Active +GARD:4614,Active,Orphanet,ORPHA:764,Disorder,[Disease],Pyomyositis,"[Myositis purulenta tropica, Myositis tropicans, PM, Suppurative myositis, Tropical pyomyositis]","Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.",,,,,,Pyomyositis,TRUE,FALSE,Active +GARD:4616,Legacy,GARD,,,,,,,,,,,,Pyridoxine deficiency,TRUE,FALSE,Active +GARD:4619,Legacy,GARD,,,,,,,,,,,,Pyropoikilocytosis hereditary,TRUE,FALSE,Active +GARD:4620,Active,Orphanet,ORPHA:79243,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E1-alpha deficiency,"[PDHAD, Pyruvate decarboxylase deficiency, Pyruvate dehydrogenase complex E1 component subunit alpha deficiency]","A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.",[312170],,,,,Pyruvate decarboxylase deficiency,TRUE,FALSE,Active +GARD:4621,Legacy,GARD,,,,,,,,,,,,"Pyruvate kinase deficiency, liver type",TRUE,FALSE,Active +GARD:4622,Legacy,GARD,,,,,,,,,,,,"Pyruvate kinase deficiency, muscle type",TRUE,FALSE,Retired +GARD:4624,Legacy,GARD,,,,,,,,,,,,Radial defect Robin sequence,TRUE,FALSE,Active +GARD:4626,Legacy,GARD,,,,,,,,,,,,"Radial hypoplasia, triphalangeal thumbs and hypospadias",TRUE,FALSE,Retired +GARD:4627,Active,Orphanet,ORPHA:3026,Disorder,[Malformation syndrome],Radial ray hypoplasia-choanal atresia syndrome,[Goldblatt-Viljoen syndrome],"An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.",[179270],,,,,Radial ray hypoplasia choanal atresia,TRUE,FALSE,Active +GARD:4628,Active,Orphanet,ORPHA:2712,Disorder,[Malformation syndrome],Oculofaciocardiodental syndrome,"[Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome, OFCD syndrome]","Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.",[300166],,,,,Oculofaciocardiodental syndrome,TRUE,FALSE,Active +GARD:4629,Legacy,GARD,,,,,,,,,,,,Radio-digito-facial dysplasia,TRUE,FALSE,Retired +GARD:463,Legacy,GARD,,,,,,,,,,,,Achondroplasia and Swiss type agammaglobulinemia,TRUE,FALSE,Retired +GARD:4630,Legacy,GARD,,,,,,,,,,,,Radio-ulnar synostosis type 1,TRUE,FALSE,Active +GARD:4632,Legacy,GARD,,,,,,,,,,,,Radioulnar synostosis retinal pigment abnormalities,TRUE,FALSE,Retired +GARD:4633,Active,Orphanet,ORPHA:3016,Disorder,[Malformation syndrome],Absent radius-anogenital anomalies syndrome,,"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.",[312190],,,,,Radius absent anogenital anomalies,TRUE,FALSE,Active +GARD:4634,Active,Orphanet,ORPHA:99843,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type II,"[CDG syndrome type IIc, CDG-IIc, CDG2C, LAD-II, Rambam-Hasharon syndrome, SLC35C1-CDG]","Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.",[266265],,,,,SLC35C1-CDG (CDG-IIc),TRUE,FALSE,Active +GARD:4635,Active,Orphanet,ORPHA:3018,Disorder,[Malformation syndrome],Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,"[Rambaud-Gallian syndrome, Rambaud-Gallian-Touchard syndrome]","A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.",[277175],,,,,Vascular hyalinosis,TRUE,FALSE,Active +GARD:4636,Active,Orphanet,ORPHA:1051,Disorder,[Malformation syndrome],Ramos-Arroyo syndrome,"[Corneal anesthesia-deafness-intellectual disability syndrome, Corneal anesthesia-hearing loss-intellectual disability syndrome]","Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.",[122430],,,,,Ramos Arroyo Clark syndrome,TRUE,FALSE,Active +GARD:4637,Active,Orphanet,ORPHA:3021,Disorder,[Malformation syndrome],RAPADILINO syndrome,,"A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.",[266280],,,,,Rapadilino syndrome,TRUE,FALSE,Active +GARD:4638,Active,Orphanet,ORPHA:3023,Disorder,[Malformation syndrome],External auditory canal atresia-vertical talus-hypertelorism syndrome,[Rasmussen-Johnsen-Thomsen syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.",[133705],,,,,Rasmussen Johnsen Thomsen syndrome,TRUE,FALSE,Active +GARD:4641,Active,Orphanet,ORPHA:2278,Disorder,[Malformation syndrome],Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,[Passwell-Goodman-Siprkowski syndrome],"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.",[242530],,,,,Ichthyosis-intellectual disability-dwarfism-renal impairment,TRUE,FALSE,Active +GARD:4644,Active,Orphanet,ORPHA:1188,Disorder,[Malformation syndrome],Ataxia-deafness-intellectual disability syndrome,"[Ataxia-hearing loss-intellectual disability syndrome, Reardon-Baraitser syndrome]","A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.",[208850],,,,,Reardon Wilson Cavanagh syndrome,TRUE,FALSE,Active +GARD:4645,Legacy,GARD,,,,,,,,,,,,Recurrent peripheral facial palsy,TRUE,FALSE,Active +GARD:4646,Legacy,GARD,,,,,,,,,,,,Reductional transverse limb defects,TRUE,FALSE,Retired +GARD:4647,Active,Orphanet,ORPHA:83452,Disorder,[Disease],Complex regional pain syndrome,,"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.",[604335],,,,,Complex regional pain syndrome,TRUE,FALSE,Active +GARD:4648,Active,Orphanet,ORPHA:772,Disorder,[Disease],Infantile Refsum disease,"[IRD, Mild PBD-ZSD, Mild peroxisome biogenesis disorder-Zellweger spectrum disorder]","Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).","[614867, 614885, 601539, 266510, 614871, 617370, 614873, 202370, 614877, 614920, 614863]",,,,,"Refsum disease, infantile form",TRUE,FALSE,Active +GARD:4649,Legacy,GARD,,,,,,,,,,,,Reginato Shiapachasse syndrome,TRUE,FALSE,Retired +GARD:465,Active,Orphanet,ORPHA:33,Disorder,[Disease],Isovaleric acidemia,[Isovaleric acid CoA dehydrogenase deficiency],"A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.",[243500],,,,,Isovaleric acidemia,TRUE,FALSE,Active +GARD:4651,Legacy,GARD,,,,,,,,,,,,Renal adysplasia dominant type,TRUE,FALSE,Retired +GARD:4654,Legacy,GARD,,,,,,,,,,,,Renal agenesis meningomyelocele mullerian defect,TRUE,FALSE,Retired +GARD:4655,Active,Orphanet,ORPHA:2838,Disorder,[Malformation syndrome],Renal caliceal diverticuli-deafness syndrome,[Renal caliceal diverticuli-hearing loss syndrome],"Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.",,,,,,Renal caliceal diverticuli deafness,TRUE,FALSE,Active +GARD:4656,Legacy,GARD,,,,,,,,,,,,"Renal carcinoma, familial",TRUE,FALSE,Retired +GARD:4657,Legacy,GARD,,,,,,,,,,,,Renal dysplasia diffuse autosomal recessive,TRUE,FALSE,Retired +GARD:4658,Legacy,GARD,,,,,,,,,,,,Renal dysplasia diffuse cystic,TRUE,FALSE,Active +GARD:4661,Legacy,GARD,,,,,,,,,,,,Renal dysplasia megalocystis sirenomelia,TRUE,FALSE,Retired +GARD:4664,Legacy,GARD,,,,,,,,,,,,Renal genital middle ear anomalies,TRUE,FALSE,Active +GARD:4665,Active,Orphanet,ORPHA:3032,Disorder,[Malformation syndrome],NPHP3-related Meckel-like syndrome,"[Goldston syndrome, Meckel syndrome type 7, Meckel-like syndrome type 1, Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome]","NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.",[267010],,,,,Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia,TRUE,FALSE,Active +GARD:4666,Active,Orphanet,ORPHA:402041,Subtype of disorder,[Clinical subtype],Autosomal recessive distal renal tubular acidosis,"[AR dRTA, Autosomal recessive distal RTA]",A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.,"[602722, 267300]",,,,,Renal tubular acidosis with deafness,TRUE,FALSE,Active +GARD:4667,Active,Orphanet,ORPHA:18,Disorder,[Disease],Distal renal tubular acidosis,"[Classic RTA, Familial distal primary acidosis, Renal tubular acidosis type 1, dRTA]","A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.","[602722, 611590, 179800, 267300]",,,,,Distal renal tubular acidosis,TRUE,FALSE,Active +GARD:4668,Active,Orphanet,ORPHA:93608,Subtype of disorder,[Clinical subtype],Autosomal dominant distal renal tubular acidosis,[AD dRTA],"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.",[179800],,,,,Autosomal dominant distal renal tubular acidosis,TRUE,FALSE,Active +GARD:4669,Legacy,GARD,,,,,,,,,,,,Autosomal recessive distal renal tubular acidosis,TRUE,FALSE,Active +GARD:467,Active,Orphanet,ORPHA:35,Disorder,[Disease],Propionic acidemia,"[Ketotic hyperglycinemia, Propionic aciduria, Propionyl-CoA carboxylase deficiency]","Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.",[606054],,,,,Propionic acidemia,TRUE,FALSE,Active +GARD:4670,Legacy,GARD,,,,,,,,,,,,"Renal tubular acidosis, distal, type 3",TRUE,FALSE,Active +GARD:4671,Legacy,GARD,,,,,,,,,,,,"Renal tubular acidosis, distal, type 4",TRUE,FALSE,Retired +GARD:4672,Legacy,GARD,,,,,,,,,,,,Renier Gabreels Jasper syndrome,TRUE,FALSE,Active +GARD:4673,Legacy,GARD,,,,,,,,,,,,Renoanogenital syndrome,TRUE,FALSE,Retired +GARD:4676,Legacy,GARD,,,,,,,,,,,,Multiple respiratory chain enzyme deficiencies,TRUE,FALSE,Retired +GARD:468,Legacy,GARD,,,,,,,,,,,,Acitretin embryopathy,TRUE,FALSE,Active +GARD:4680,Active,Orphanet,ORPHA:1852,Disorder,[Disease],X-linked retinal dysplasia,,"A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.",[312550],,,,,Retinal dysplasia X-linked,TRUE,FALSE,Active +GARD:4681,Legacy,GARD,,,,,,,,,,,,Retinal telangiectasia hypogammaglobulinemia,TRUE,FALSE,Retired +GARD:4682,Legacy,GARD,,,,,,,,,,,,Retinis pigmentosa deafness hypogenitalism,TRUE,FALSE,Retired +GARD:4683,Active,Orphanet,ORPHA:3085,Disorder,[Malformation syndrome],Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,"[Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome, Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome]","A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.",[268020],,,,,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,TRUE,FALSE,Active +GARD:4684,Active,Orphanet+OMIM,OMIM:500004,Subtype of disorder,[Clinical subtype],Retinitis pigmentosa-deafness syndrome,"[Retinitis pigmentosa 8, formerly, retinitis pigmentosa 21, formerly]",,[500004],[231183],[Usher syndrome type 3],[5442],,Retinitis pigmentosa-deafness syndrome,TRUE,FALSE,Retired +GARD:4685,Legacy,GARD,,,,,,,,,,,,Retinohepatoendocrinologic syndrome,TRUE,FALSE,Active +GARD:4686,Legacy,GARD,,,,,,,,,,,,Retinopathy anemia CNS anomalies,TRUE,FALSE,Retired +GARD:4687,Legacy,GARD,,,,,,,,,,,,Retinopathy aplastic anemia neurological abnormalities,TRUE,FALSE,Active +GARD:4688,Legacy,GARD,,,,,,,,,,,,Retinopathy pigmentary mental retardation,TRUE,FALSE,Retired +GARD:469,Active,Orphanet,ORPHA:2561,Disorder,[Malformation syndrome],Pyramidal molars-abnormal upper lip syndrome,[Ackerman fused molar roots syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.",[200970],,,,,Pyramidal molars-abnormal upper lip syndrome,TRUE,FALSE,Active +GARD:4690,Active,Orphanet,ORPHA:792,Disorder,[Malformation syndrome],X-linked retinoschisis,"[X-linked juvenile retinoschisis, XLRS]","A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.",[312700],,,,,Juvenile retinoschisis,TRUE,FALSE,Active +GARD:4694,Active,Orphanet,ORPHA:3095,Disorder,[Disease],Atypical Rett syndrome,"[Atypical RTT, Rett syndrome variant]","A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.","[617903, 312750, 617904, 613454, 300672]",,,,,Atypical Rett syndrome,TRUE,FALSE,Active +GARD:4695,Active,Orphanet,ORPHA:3088,Disorder,[Malformation syndrome],Revesz syndrome,"[Dyskeratosis congenita with bilateral exudative retinopathy, Retinopathy-anemia-central nervous system anomalies syndrome, Revesz-DeBuse syndrome]","Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.",[268130],,,,,Revesz syndrome,TRUE,FALSE,Active +GARD:4696,Legacy,GARD,,,,,,,,,,,,Reynolds Neri Hermann syndrome,TRUE,FALSE,Retired +GARD:4697,Active,Orphanet,ORPHA:779,Disorder,[Disease],Reynolds syndrome,[Primary biliary cirrhosis and systemic scleroderma],Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).,[613471],,,,,Reynolds syndrome,TRUE,FALSE,Active +GARD:47,Active,Orphanet,ORPHA:79234,Subtype of disorder,[Clinical subtype],Crigler-Najjar syndrome type 1,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1, Bilirubin-UGT deficiency type 1]","A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.",[218800],,,,,"Crigler Najjar syndrome, type 1",TRUE,FALSE,Active +GARD:4701,Active,Orphanet,ORPHA:99756,Subtype of disorder,[Clinical subtype],Alveolar rhabdomyosarcoma,,,[268220],,,,,Rhabdomyosarcoma alveolar,TRUE,FALSE,Active +GARD:4702,Active,Orphanet,ORPHA:99757,Subtype of disorder,[Clinical subtype],Embryonal rhabdomyosarcoma,,,[268210],,,,,Rhabdomyosarcoma embryonal,TRUE,FALSE,Active +GARD:4703,Active,Orphanet,ORPHA:2831,Disorder,[Malformation syndrome],"Rhizomelic dysplasia, Patterson-Lowry type",,"Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.",[601438],,,,,Rhizomelic dysplasia Patterson Lowry type,TRUE,FALSE,Active +GARD:4704,Active,Orphanet,ORPHA:93569,Disorder,[Disease],Polymyalgia rheumatica,[Rhizomelic pseudopolyarthritis],"A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased.",,,,,,Rhizomelic pseudopolyarthritis,TRUE,FALSE,Active +GARD:4705,Active,Orphanet,ORPHA:3098,Disorder,[Malformation syndrome],"Rhizomelic syndrome, Urbach type",,"Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.",[268250],,,,,Rhizomelic syndrome,TRUE,FALSE,Active +GARD:4708,Legacy,GARD,,,,,,,,,,,,Richieri-Costa Colletto Otto syndrome,TRUE,FALSE,Retired +GARD:4709,Active,Orphanet,ORPHA:3101,Disorder,[Malformation syndrome],Richieri Costa-da Silva syndrome,[Myotonia-intellectual disability-skeletal anomalies syndrome],"Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.",[255710],,,,,Richieri Costa Da Silva syndrome,TRUE,FALSE,Active +GARD:4711,Legacy,GARD,,,,,,,,,,,,Richieri Costa Guion Almeida syndrome,TRUE,FALSE,Retired +GARD:4712,Legacy,GARD,,,,,,,,,,,,Richieri-Costa Guion-Almeida Cohen syndrome,TRUE,FALSE,Active +GARD:4717,Legacy,GARD,,,,,,,,,,,,Richieri Costa Orquizas syndrome,TRUE,FALSE,Retired +GARD:4718,Active,Orphanet,ORPHA:3102,Disorder,[Malformation syndrome],Richieri Costa-Pereira syndrome,"[Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome, Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome]","Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.",[268305],,,,,Richieri Costa Pereira syndrome,TRUE,FALSE,Active +GARD:4720,Legacy,GARD,,,,,,,,,,,,Right atrium familial dilatation,TRUE,FALSE,Active +GARD:4721,Active,Orphanet,ORPHA:439,Disorder,[Morphological anomaly],Isolated right ventricular hypoplasia,,"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.",[277200],,,,,Right ventricle hypoplasia,TRUE,FALSE,Active +GARD:4722,Active,Orphanet,ORPHA:178303,Disorder,[Malformation syndrome],8q22.1 microdeletion syndrome,"[Monosomy 8q22.1, Nablus mask-like facial syndrome]",The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.,[608156],,,,,Nablus mask-like facial syndrome,TRUE,FALSE,Active +GARD:4723,Active,Orphanet,ORPHA:97244,Disorder,[Disease],Rigid spine syndrome,[Rigid spine congenital muscular dystrophy],"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.",[602771],,,,,Rigid spine syndrome,TRUE,FALSE,Active +GARD:4724,Active,Orphanet,ORPHA:1441,Disorder,[Malformation syndrome],Ring chromosome 17 syndrome,"[Ring 17, Ring chromosome 17]","Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.",,,,,,Ring chromosome 17,TRUE,FALSE,Active +GARD:4725,Legacy,GARD,,,,,,,,,,,,Ringed hair disease,TRUE,FALSE,Active +GARD:4729,Active,Orphanet,ORPHA:3104,Disorder,[Malformation syndrome],Robin sequence-oligodactyly syndrome,[Pierre Robin sequence-oligodactyly syndrome],"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.",[172880],,,,,Robin sequence and oligodactyly,TRUE,FALSE,Active +GARD:4730,Active,Orphanet+OMIM,OMIM:180750,Subtype of disorder,[Malformation syndrome subtype],Robinow-sorauf syndrome,"[Craniosynostosis-bifid hallux syndrome, acrocephalosyndactyly, robinow-sorauf type]",,[180750],[794],[Saethre-Chotzen syndrome],[7598],,Robinow Sorauf syndrome,TRUE,FALSE,Retired +GARD:4732,Active,Orphanet,ORPHA:79499,Disorder,[Malformation syndrome],Autosomal dominant deafness-onychodystrophy syndrome,"[Autosomal dominant hearing loss-onychodystrophy syndrome, DDOD syndrome]","A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.",[124480],,,,,Autosomal dominant deafness-onychodystrophy syndrome,TRUE,FALSE,Active +GARD:4733,Active,Orphanet,ORPHA:529,Disorder,[Disease],Roch-Leri mesosomatous lipomatosis,,"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.",,,,,,Roch-Leri mesosomatous lipomatosis,TRUE,FALSE,Active +GARD:4734,Legacy,GARD,,,,,,,,,,,,Rod myopathy,TRUE,FALSE,Retired +GARD:4735,Legacy,GARD,,,,,,,,,,,,Rodini Richieri Costa syndrome,TRUE,FALSE,Retired +GARD:4737,Active,Orphanet,ORPHA:247775,Subtype of disorder,[Clinical subtype],Mayer-Rokitansky-Küster-Hauser syndrome type 1,"[Congenital absence of uterus and vagina, MRKH syndrome type 1, Rokitansky sequence]","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.",[277000],,,,,Rokitansky sequence,TRUE,FALSE,Active +GARD:4738,Active,Orphanet,ORPHA:3110,Disorder,[Disease],Rombo syndrome,,"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.",[180730],,,,,Rombo syndrome,TRUE,FALSE,Active +GARD:4739,Legacy,GARD,,,,,,,,,,,,Rommen Mueller Sybert syndrome,TRUE,FALSE,Active +GARD:4740,Active,Orphanet,ORPHA:1837,Disorder,[Disease],Ulna metaphyseal dysplasia syndrome,[Rosenberg-Lohr syndrome],"Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.",[191420],,,,,Ulna metaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:4741,Active,Orphanet,ORPHA:3115,Disorder,[Disease],Roussy-Lévy syndrome,"[Hereditary areflexic dystasia, Roussy-Lévy type]","A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.",[180800],,,,,Roussy Levy syndrome,TRUE,FALSE,Active +GARD:4742,Legacy,GARD,,,,,,,,,,,,Rubella,TRUE,FALSE,Active +GARD:4744,Active,Orphanet,ORPHA:290,Disorder,[Disease],Congenital rubella syndrome,"[CRS, Fetal rubella syndrome, Mother-to-child transmission of rubella syndrome]","An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.",,,,,,Congenital rubella,TRUE,FALSE,Active +GARD:4745,Legacy,GARD,,,,,,,,,,,,Rubinstein Taybi like syndrome,TRUE,FALSE,Active +GARD:4747,Legacy,GARD,,,,,,,,,,,,Ruvalcaba Churesigaew Myhre syndrome,TRUE,FALSE,Active +GARD:4748,Active,Orphanet,ORPHA:3121,Disorder,[Malformation syndrome],Ruvalcaba syndrome,,"Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.",[180870],,,,,Ruvalcaba syndrome,TRUE,FALSE,Active +GARD:475,Active,Orphanet,ORPHA:26348,Disorder,[Disease],Acquired prothrombin deficiency,[Acquired hypoprothrombinemia],,,,,,,Acquired hypoprothrombinemia,TRUE,FALSE,Retired +GARD:4751,Legacy,GARD,,,,,,,,,,,,Sacral defect with anterior meningocele,TRUE,FALSE,Retired +GARD:4752,Active,Orphanet,ORPHA:2351,Disorder,[Malformation syndrome],Kousseff syndrome,[Sacral meningocele-conotruncal heart defects syndrome],"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.",,,,,,Sacral meningocele conotruncal heart defects,TRUE,FALSE,Active +GARD:4754,Active,Orphanet,ORPHA:309334,Subtype of disorder,[Clinical subtype],Salla disease,,,[604369],,,,,Salla disease,TRUE,FALSE,Active +GARD:476,Active,Orphanet,ORPHA:454,Disorder,[Disease],Acquired ichthyosis,,"A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.",,,,,,"Ichthyosis, acquired",TRUE,FALSE,Active +GARD:4766,Legacy,GARD,,,,,,,,,,,,Childhood-Onset Schizophrenia,TRUE,FALSE,Active +GARD:4767,Active,Orphanet,ORPHA:252164,Disorder,[Disease],Benign schwannoma,"[Neurilemmoma, Neurilemoma, Peripheral fibroblastoma]","A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.",,,,,,Schwannoma,TRUE,FALSE,Active +GARD:4768,Active,Orphanet,ORPHA:93921,Disorder,[Disease],Schwannomatosis,"[NF3, Neurilemmomatosis, Neurofibromatosis type 3]","A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.","[162260, 615670, 162091]",,,,,Schwannomatosis,TRUE,FALSE,Active +GARD:4769,Active,Orphanet,ORPHA:75840,Disorder,[Disease],"Congenital muscular dystrophy, Ullrich type","[Scleroatonic muscular dystrophy, UCMD, Ullrich disease]","Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.","[254090, 616470]",,,,,Ullrich congenital muscular dystrophy,TRUE,FALSE,Active +GARD:4770,Legacy,GARD,,,,,,,,,,,,Sclerosing bone dysplasia mental retardation,TRUE,FALSE,Retired +GARD:4771,Active,Orphanet,ORPHA:3152,Disorder,[Malformation syndrome],Sclerosteosis,[Cortical hyperostosis-syndactyly syndrome],"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","[614305, 269500]",,,,,Sclerosteosis,TRUE,FALSE,Active +GARD:4773,Legacy,GARD,,,,,,,,,,,,Scoliosis with unilateral unsegmented bar,TRUE,FALSE,Retired +GARD:4774,Active,Orphanet,ORPHA:832,Disorder,[Disease],Succinyl-CoA:3-oxoacid CoA transferase deficiency,"[OXCT1 deficiency, SCOT deficiency, Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA:3-ketoacid CoA transferase deficiency]","A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.",[245050],,,,,SCOT deficiency,TRUE,FALSE,Active +GARD:4775,Active,Orphanet,ORPHA:915,Disorder,[Malformation syndrome],Aarskog-Scott syndrome,"[Aarskog syndrome, Faciodigitogenital syndrome, Faciogenital dysplasia]","A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.","[100050, 305400]",,,,,Aarskog syndrome,TRUE,FALSE,Active +GARD:4776,Active,Orphanet,ORPHA:1514,Disorder,[Malformation syndrome],Craniodigital-intellectual disability syndrome,"[Scott craniodigital syndrome, Scott-Bryant-Graham syndrome]","Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.",,,,,,Scott Bryant Graham syndrome,TRUE,FALSE,Active +GARD:4777,Active,Orphanet,ORPHA:806,Disorder,[Disease],Scott syndrome,,Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.,[262890],,,,,Scott syndrome,TRUE,FALSE,Active +GARD:4778,Active,Orphanet,ORPHA:1778,Disorder,[Malformation syndrome],Facial dysmorphism-shawl scrotum-joint laxity syndrome,[Seaver-Cassidy syndrome],"Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.",,,,,,Seaver Cassidy syndrome,TRUE,FALSE,Active +GARD:478,Legacy,GARD,,,,,,,,,,,,Acral dysostosis dyserythropoiesis syndrome,TRUE,FALSE,Active +GARD:4780,Legacy,GARD,,,,,,,,,,,,Sebocystomatosis,TRUE,FALSE,Retired +GARD:4781,Legacy,GARD,,,,,,,,,,,,Seckel like syndrome Majoor-Krakauer type,TRUE,FALSE,Active +GARD:4787,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 5,TRUE,FALSE,Retired +GARD:4789,Legacy,GARD,,,,,,,,,,,,Seizures benign familial neonatal recessive form,TRUE,FALSE,Retired +GARD:4790,Legacy,GARD,,,,,,,,,,,,Seizures mental retardation hair dysplasia,TRUE,FALSE,Retired +GARD:4791,Legacy,GARD,,,,,,,,,,,,Selig Benacerraf Greene syndrome,TRUE,FALSE,Active +GARD:4792,Active,Orphanet,ORPHA:842,Disorder,[Disease],Testicular seminomatous germ cell tumor,"[Seminoma of testis, Seminomatous germ cell tumor of testis, Testicular seminoma]","Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.",[273300],,,,,Testicular seminoma,TRUE,FALSE,Active +GARD:4793,Legacy,GARD,,,,,,,,,,,,Semmekrot Haraldsson Weemaes syndrome,TRUE,FALSE,Retired +GARD:4798,Legacy,GARD,,,,,,,,,,,,Sensory neuropathy type 1,TRUE,FALSE,Retired +GARD:48,Active,Orphanet,ORPHA:254905,Disorder,[Disease],Isolated cytochrome C oxidase deficiency,"[Isolated COX deficiency, Isolated mitochondrial respiratory chain complex IV deficiency]","A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.","[619048, 619063, 220110, 619064, 619355, 619051, 619058, 619059, 619060, 619052, 619046, 619053, 619054, 619061, 619055, 619062]",,,,,Cytochrome c oxidase deficiency,TRUE,FALSE,Active +GARD:480,Active,Orphanet,ORPHA:958,Disorder,[Malformation syndrome],Acro-renal-mandibular syndrome,[Split hand/split foot-mandibular hypoplasia syndrome],"A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.",[200980],,,,,Acrorenal mandibular syndrome,TRUE,FALSE,Active +GARD:4800,Legacy,GARD,,,,,,,,,,,,Senter syndrome,TRUE,FALSE,Retired +GARD:4801,Legacy,GARD,,,,,,,,,,,,Seow Najjar syndrome,TRUE,FALSE,Active +GARD:4804,Legacy,GARD,,,,,,,,,,,,Sequeiros Sack syndrome,TRUE,FALSE,Retired +GARD:4805,Legacy,GARD,,,,,,,,,,,,Seres-Santamaria Arimany Muniz syndrome,TRUE,FALSE,Active +GARD:4815,Active,Orphanet,ORPHA:29822,Disorder,[Disease],Spontaneous periodic hypothermia,"[Episodic spontaneous hypothermia, Shapiro syndrome]",A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.,,,,,,Shapiro syndrome,TRUE,FALSE,Active +GARD:4817,Legacy,GARD,,,,,,,,,,,,Sharp syndrome,TRUE,FALSE,Retired +GARD:4818,Active,Orphanet,ORPHA:810,Disorder,[Disease],Shigellosis,,"Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.",,,,,,Shigellosis,TRUE,FALSE,Active +GARD:4819,Legacy,GARD,,,,,,,,,,,,Shih Filkins syndrome,TRUE,FALSE,Retired +GARD:4821,Legacy,GARD,,,,,,,,,,,,Short broad great toe macrocranium,TRUE,FALSE,Retired +GARD:4822,Active,Orphanet,ORPHA:26792,Disorder,[Disease],Short chain acyl-CoA dehydrogenase deficiency,"[ACADS deficiency, SCAD deficiency, SCADD]","Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.",[201470],,,,,Short-chain acyl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:4823,Legacy,GARD,,,,,,,,,,,,Short limb dwarf lethal Colavita Kozlowski type,TRUE,FALSE,Retired +GARD:4824,Legacy,GARD,,,,,,,,,,,,"Lethal short-limb dwarfism, McAlister-Crane type",TRUE,FALSE,Retired +GARD:4826,Legacy,GARD,,,,,,,,,,,,Short limb dwarf edema iris coloboma,TRUE,FALSE,Retired +GARD:4827,Legacy,GARD,,,,,,,,,,,,Lethal short limb skeletal dysplasia Al Gazali type,TRUE,FALSE,Active +GARD:4828,Legacy,GARD,,,,,,,,,,,,Short limbs abnormal face congenital heart disease,TRUE,FALSE,Retired +GARD:4829,Legacy,GARD,,,,,,,,,,,,Short limbs subluxed knees cleft palate,TRUE,FALSE,Retired +GARD:483,Legacy,GARD,,,,,,,,,,,,Acro coxo mesomelic dysplasia,TRUE,FALSE,Retired +GARD:4832,Active,Orphanet,ORPHA:93268,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Beemer-Langer type",[Short rib-polydactyly syndrome type 4],"A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.",[269860],,,,,Short rib-polydactyly syndrome type 4,TRUE,FALSE,Active +GARD:4833,Active,Orphanet,ORPHA:93269,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Majewski type",[Short rib-polydactyly syndrome type 2],"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","[263520, 613091]",,,,,"Short rib-polydactyly syndrome, Majewski type",TRUE,FALSE,Active +GARD:4834,Active,Orphanet,ORPHA:93270,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Saldino-Noonan type",[Short rib-polydactyly syndrome type 1],"A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.",[613091],,,,,Short rib-polydactyly syndrome type 1,TRUE,FALSE,Active +GARD:4835,Active,Orphanet,ORPHA:93271,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Verma-Naumoff type",[Short rib-polydactyly syndrome type 3],"A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.","[615633, 614091, 615503, 613091]",,,,,Short rib-polydactyly syndrome type 3,TRUE,FALSE,Active +GARD:4836,Legacy,GARD,,,,,,,,,,,,Short ribs craniosynostosis polysyndactyly,TRUE,FALSE,Retired +GARD:4837,Legacy,GARD,,,,,,,,,,,,Short stature abnormal skin pigmentation mental retardation,TRUE,FALSE,Retired +GARD:4838,Active,Orphanet,ORPHA:2867,Disorder,[Malformation syndrome],"Short stature, Brussels type",[Mievis-Verellen-Dumoulin syndrome],"A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.",[601350],,,,,"Short stature syndrome, Brussels type",TRUE,FALSE,Active +GARD:4839,Legacy,GARD,,,,,,,,,,,,Short stature contractures hypotonia,TRUE,FALSE,Retired +GARD:484,Active,Orphanet,ORPHA:1784,Disorder,[Malformation syndrome],Acrofrontofacionasal dysostosis,[Richieri-Costa-Colletto syndrome],A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.,[201180],,,,,Acrofrontofacionasal dysostosis syndrome,TRUE,FALSE,Active +GARD:4840,Legacy,GARD,,,,,,,,,,,,Short stature cranial hyperostosis hepatomegaly,TRUE,FALSE,Retired +GARD:4841,Active,Orphanet,ORPHA:2866,Disorder,[Malformation syndrome],Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,"[Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome, Thong-Douglas-Ferrante syndrome]","A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.",,,,,,Short stature deafness neutrophil dysfunction,TRUE,FALSE,Active +GARD:4842,Legacy,GARD,,,,,,,,,,,,Short stature dysmorphic face pelvic scapula dysplasia,TRUE,FALSE,Retired +GARD:4845,Legacy,GARD,,,,,,,,,,,,Finger locking recurrent with intrauterine growth retardation and proportionate short stature,TRUE,FALSE,Retired +GARD:4846,Legacy,GARD,,,,,,,,,,,,Short stature mental retardation eye anomalies,TRUE,FALSE,Retired +GARD:4849,Legacy,GARD,,,,,,,,,,,,Short stature microcephaly seizures deafness,TRUE,FALSE,Retired +GARD:4850,Legacy,GARD,,,,,,,,,,,,Short stature monodactylous ectrodactyly cleft palate,TRUE,FALSE,Retired +GARD:4851,Legacy,GARD,,,,,,,,,,,,Short stature prognathism short femoral necks,TRUE,FALSE,Retired +GARD:4852,Legacy,GARD,,,,,,,,,,,,Short stature Robin sequence cleft mandible hand anomalies clubfoot,TRUE,FALSE,Retired +GARD:4853,Legacy,GARD,,,,,,,,,,,,Short stature talipes natal teeth,TRUE,FALSE,Retired +GARD:4854,Legacy,GARD,,,,,,,,,,,,Short stature valvular heart disease,TRUE,FALSE,Retired +GARD:4856,Active,Orphanet,ORPHA:2863,Disorder,[Malformation syndrome],Short stature-wormian bones-dextrocardia syndrome,[Stratton-Parker syndrome],"A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).",[185120],,,,,Short stature wormian bones dextrocardia,TRUE,FALSE,Active +GARD:4859,Legacy,GARD,,,,,,,,,,,,Shoulder and thorax deformity congenital heart disease,TRUE,FALSE,Retired +GARD:486,Legacy,GARD,,,,,,,,,,,,Acrocephalopolydactyly,TRUE,FALSE,Retired +GARD:4860,Legacy,GARD,,,,,,,,,,,,Shoulder girdle defect mental retardation familial,TRUE,FALSE,Retired +GARD:4861,Active,Orphanet,ORPHA:2462,Disorder,[Malformation syndrome],Shprintzen-Goldberg syndrome,"[Marfanoid craniosynostosis syndrome, SGS]","Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.",[182212],,,,,Shprintzen-Goldberg craniosynostosis syndrome,TRUE,FALSE,Active +GARD:4863,Active,Orphanet,ORPHA:811,Disorder,[Disease],Shwachman-Diamond syndrome,"[Pancreatic insufficiency and bone marrow dysfunction, SDS, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome]","Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.","[617941, 260400]",,,,,Shwachman-Diamond syndrome,TRUE,FALSE,Active +GARD:4865,Active,Orphanet,ORPHA:3166,Disorder,[Disease],Sialuria,"[Sialuria, French type]","An extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.",[269921],,,,,"Sialuria, French type",TRUE,FALSE,Active +GARD:4867,Active,Orphanet,ORPHA:3167,Disorder,[Malformation syndrome],Siegler-Brewer-Carey syndrome,,"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.",,,,,,Siegler Brewer Carey syndrome,TRUE,FALSE,Active +GARD:4868,Legacy,GARD,,,,,,,,,,,,Silengo Lerone Pelizza syndrome,TRUE,FALSE,Active +GARD:4869,Active,Orphanet,ORPHA:3168,Disorder,[Malformation syndrome],Sillence syndrome,[Brachydactyly-symphalangism syndrome],"Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.",[113450],,,,,Sillence syndrome,TRUE,FALSE,Active +GARD:4870,Active,Orphanet,ORPHA:813,Disorder,[Disease],Silver-Russell syndrome,[Silver-Russell dwarfism],"Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.","[312780, 180860, 616489]",,,,,Russell-Silver syndrome,TRUE,FALSE,Active +GARD:4871,Legacy,GARD,,,,,,,,,,,,Silvery hair syndrome,TRUE,FALSE,Retired +GARD:4873,Active,Orphanet,ORPHA:1968,Disorder,[Malformation syndrome],Flat face-microstomia-ear anomaly syndrome,"[Blepharophimosis-telecanthus-microstomia syndrome, Simosa craniofacial syndrome, Simosa-Penchaszadeh-Bustos syndrome]","Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.",[182150],,,,,Simosa cranio facial syndrome,TRUE,FALSE,Active +GARD:4876,Legacy,GARD,,,,,,,,,,,,Singh Chhaparwal Dhanda syndrome,TRUE,FALSE,Active +GARD:4877,Active,Orphanet+OMIM,OMIM:147250,Subtype of disorder,[Malformation syndrome subtype],Solitary median maxillary central incisor,"[single central maxillary incisor, fused incisors, Incisors, fused, single upper central incisor]",,[147250],[280200],[Microform holoprosencephaly],[17290],,Single upper central incisor,TRUE,FALSE,Active +GARD:4878,Legacy,GARD,,,,,,,,,,,,Single ventricular heart,TRUE,FALSE,Active +GARD:4879,Active,Orphanet+OMIM,OMIM:140400,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ii",,"Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see {113900}). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes ({1:Brink and Torrington, 1977}).",[140400],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 2,TRUE,FALSE,Active +GARD:4880,Active,Orphanet+OMIM,OMIM:182190,Subtype of disorder,[Disease subtype],Sinus node disease and myopia,"[Sick sinus syndrome and myopia, sss-myopia syndrome]","See {163800} for a discussion of disturbance of the sinoatrial node, including the so-called sick sinus syndrome (SSS). {1:Onat (1986)} described SSS in father, daughter and son. The 2 elder affected persons had severe degenerative myopia. It was suggested that the youngest affected person, still under age 7 years, might develop this feature.",[182190],[166282],[Familial sick sinus syndrome],[13663],,Sinus node disease and myopia,TRUE,FALSE,Active +GARD:4881,Active,Orphanet,ORPHA:247698,Subtype of disorder,[Clinical subtype],Multiple endocrine neoplasia type 2A,"[MEN2A, PTC syndrome, Sipple syndrome]","A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.",[171400],,,,,Multiple endocrine neoplasia type 2A,TRUE,FALSE,Active +GARD:4883,Active,Orphanet,ORPHA:101063,Disorder,[Morphological anomaly],Situs inversus totalis,"[Complete situs inversus, Complete situs inversus viscerum, Situs inversus]","A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.",,,,,,Situs inversus,TRUE,FALSE,Active +GARD:4885,Legacy,GARD,,,,,,,,,,,,Sjogren-Larsson-like syndrome,TRUE,FALSE,Active +GARD:4886,Active,Orphanet,ORPHA:2565,Disorder,[Malformation syndrome],Mononen-Karnes-Senac syndrome,[Skeletal dysplasia-brachydactyly syndrome],"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.",[301940],,,,,Brachydactyly Mononen type,TRUE,FALSE,Active +GARD:4888,Legacy,GARD,,,,,,,,,,,,Skeletal dysplasia orofacial anomalies,TRUE,FALSE,Retired +GARD:4889,Legacy,GARD,,,,,,,,,,,,"Skeletal dysplasia, San Diego type",TRUE,FALSE,Active +GARD:4890,Legacy,GARD,,,,,,,,,,,,Skeleto cardiac syndrome with thrombocytopenia,TRUE,FALSE,Retired +GARD:4891,Active,Orphanet,ORPHA:83629,Disorder,[Disease],Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,"[H-SMD, Hypomyelination-spondyloepimetaphyseal dysplasia syndrome, Leukoencephalopathy-SEMD syndrome, Leukoencephalopathy-metaphyseal chondrodysplasia syndrome]","A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.",[300232],,,,,Leukoencephalopathy-spondylometaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:4893,Legacy,GARD,,,,,,,,,,,,Slavotinek Pike Mills Hurst syndrome,TRUE,FALSE,Active +GARD:4894,Legacy,GARD,,,,,,,,,,,,Small non-cleaved cell lymphoma,TRUE,FALSE,Retired +GARD:4898,Active,Orphanet,ORPHA:3394,Group of disorders,[Clinical group],Soft tissue sarcoma,"[Malignant mesenchymal tumor, Malignant soft tissue tumor, Soft part sarcoma]",,,,,,,Soft tissue sarcoma,TRUE,FALSE,Active +GARD:4899,Active,Orphanet,ORPHA:2234,Disorder,[Malformation syndrome],Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,[Sohval-Soffer syndrome],"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.",[307500],,,,,Sohval Soffer syndrome,TRUE,FALSE,Active +GARD:49,Active,Orphanet,ORPHA:2962,Disorder,[Disease],De Barsy syndrome,"[Cutis laxa-corneal clouding-intellectual disability syndrome, Progeroid syndrome, De Barsy type]","De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.","[219150, 614438]",,,,,De Barsy syndrome,TRUE,FALSE,Active +GARD:4900,Active,Orphanet,ORPHA:97283,Disorder,[Disease],Somatostatinoma,,"Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.",,,,,,Somatostatinoma,TRUE,FALSE,Active +GARD:4905,Active,Orphanet,ORPHA:1355,Disorder,[Malformation syndrome],Congenital heart defect-round face-developmental delay syndrome,[Sonoda syndrome],"A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.",[270460],,,,,Sonoda syndrome,TRUE,FALSE,Active +GARD:4906,Legacy,GARD,,,,,,,,,,,,Sosby syndrome,TRUE,FALSE,Retired +GARD:4907,Legacy,GARD,,,,,,,,,,,,Sparse hair ptosis mental retardation,TRUE,FALSE,Retired +GARD:4908,Legacy,GARD,,,,,,,,,,,,Congenital torticollis,TRUE,FALSE,Active +GARD:4909,Legacy,GARD,,,,,,,,,,,,Spastic angina with healthy coronary artery,TRUE,FALSE,Active +GARD:491,Active,Orphanet,ORPHA:2956,Disorder,[Malformation syndrome],Acrodysplasia scoliosis,"[Brachydactyly-scoliosis-carpal fusion syndrome, Prata-Liberal-Goncalves syndrome]","A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.",,,,,,Acrodysplasia scoliosis,TRUE,FALSE,Active +GARD:4910,Active,Orphanet,ORPHA:98,Disorder,[Disease],Autosomal recessive spastic ataxia of Charlevoix-Saguenay,"[ARSACS, Autosomal recessive spastic ataxia type 6, SPAX6]","Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.",[270550],,,,,Spastic ataxia Charlevoix-Saguenay type,TRUE,FALSE,Active +GARD:4911,Legacy,GARD,,,,,,,,,,,,Spastic diplegia infantile type,TRUE,FALSE,Active +GARD:4912,Legacy,GARD,,,,,,,,,,,,Spastic paraparesis,TRUE,FALSE,Active +GARD:4914,Active,Orphanet,ORPHA:293168,Disorder,[Disease],Infantile-onset ascending hereditary spastic paralysis,[IAHSP],"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.",[607225],,,,,Infantile-onset ascending hereditary spastic paralysis,TRUE,FALSE,Active +GARD:4915,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia-epilepsy-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4917,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia 5B,TRUE,FALSE,Active +GARD:4918,Active,Orphanet,ORPHA:2826,Disorder,[Disease],Spastic paraplegia-precocious puberty syndrome,,Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.,[182820],,,,,Spastic paraplegia with precocious puberty,TRUE,FALSE,Active +GARD:4919,Active,Orphanet,ORPHA:2822,Disorder,[Disease],Autosomal recessive spastic paraplegia type 11,"[Nakamura-Osame syndrome, SPG11, Spastic paraplegia-intellectual disability-thin corpus callosum syndrome]","A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.",[604360],,,,,Spastic paraplegia 11,TRUE,FALSE,Active +GARD:4921,Active,Orphanet,ORPHA:2821,Disorder,[Disease],Spastic paraplegia-neuropathy-poikiloderma syndrome,[Antinolo-Nieto-Borrego syndrome],"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.",[182815],,,,,Spastic paraplegia neuropathy poikiloderma,TRUE,FALSE,Active +GARD:4922,Active,Orphanet,ORPHA:209951,Disorder,[Disease],Autosomal recessive spastic paraplegia type 18,[SPG18],"Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.",[611225],,,,,Spastic paraplegia 18,TRUE,FALSE,Active +GARD:4923,Active,Orphanet,ORPHA:99015,Disorder,[Disease],Spastic paraplegia type 2,"[SPG2, Spastic gait type 2, Spastic paraparesis type 2, X-linked spastic paraplegia type 2]","A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.",[312920],,,,,Spastic paraplegia 2,TRUE,FALSE,Active +GARD:4924,Active,Orphanet,ORPHA:139480,Disorder,[Disease],Autosomal recessive spastic paraplegia type 39,"[SPG39, Spastic paraplegia due to NTE mutation, Spastic paraplegia due to neuropathy target esterase mutation]",A rare autosomal recessive spastic paraplegia characterized by progressive spastic paraplegia and distal muscle wasting.,[612020],,,,,Spastic paraplegia 39,TRUE,FALSE,Active +GARD:4925,Active,Orphanet,ORPHA:100985,Disorder,[Disease],Autosomal dominant spastic paraplegia type 4,[SPG4],"A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.",[182601],,,,,Spastic paraplegia 4,TRUE,FALSE,Active +GARD:4926,Active,Orphanet,ORPHA:100986,Disorder,[Disease],Autosomal recessive spastic paraplegia type 5A,[SPG5A],"Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.",[270800],,,,,Spastic paraplegia 5A,TRUE,FALSE,Active +GARD:4927,Active,Orphanet,ORPHA:99013,Disorder,[Disease],Spastic paraplegia type 7,[SPG7],"A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.",[607259],,,,,Spastic paraplegia 7,TRUE,FALSE,Active +GARD:4928,Active,Orphanet,ORPHA:100988,Disorder,[Disease],Autosomal dominant spastic paraplegia type 6,[SPG6],"A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.",[600363],,,,,Spastic paraplegia 6,TRUE,FALSE,Active +GARD:4931,Active,Orphanet,ORPHA:2818,Disorder,[Disease],Spastic paraplegia-glaucoma-intellectual disability syndrome,,"Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.",[270850],,,,,Spastic paraplegia-glaucoma-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4932,Active,Orphanet,ORPHA:3011,Disorder,[Disease],Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,[Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.",[270950],,,,,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4933,Legacy,GARD,,,,,,,,,,,,Spasticity mental retardation,TRUE,FALSE,Retired +GARD:4936,Active,Orphanet,ORPHA:3449,Disorder,[Malformation syndrome],Weill-Marchesani syndrome,[Spherophakia-brachymorphia syndrome],"Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.","[614819, 608328, 277600]",,,,,Weill-Marchesani syndrome,TRUE,FALSE,Active +GARD:4938,Active,Orphanet,ORPHA:79264,Disorder,[Disease],Juvenile neuronal ceroid lipofuscinosis,"[Batten disease, JNCL, Juvenile NCL, Spielmeyer-Vogt disease]","Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.","[610127, 204200, 600143, 256730, 204500, 609055]",,,,,Spielmeyer-Vogt disease,TRUE,FALSE,Retired +GARD:494,Active,Orphanet,ORPHA:1786,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Catania type",[Opitz-Caltabiano syndrome],"A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.",[101805],,,,,Acrofacial dysostosis Catania type,TRUE,FALSE,Active +GARD:4940,Active,Orphanet,ORPHA:3176,Disorder,[Malformation syndrome],Spina bifida-hypospadias syndrome,,"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.",,,,,,Spina bifida hypospadias,TRUE,FALSE,Active +GARD:4942,Active,Orphanet,ORPHA:1217,Disorder,[Disease],Spinal atrophy-ophthalmoplegia-pyramidal syndrome,[Hamano-Tsukamoto syndrome],"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.",,,,,,Spinal atrophy ophthalmoplegia pyramidal syndrome,TRUE,FALSE,Active +GARD:4943,Legacy,GARD,,,,,,,,,,,,Spinal dysostosis type Anhalt,TRUE,FALSE,Retired +GARD:4945,Active,Orphanet,ORPHA:83418,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 2,"[Intermediate spinal muscular atrophy, SMA type 2, SMA type II, SMA-II, SMA2]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.",[253550],,,,,Spinal muscular atrophy type 2,TRUE,FALSE,Active +GARD:4947,Active,Orphanet+OMIM,OMIM:616866,Subtype of disorder,[Disease subtype],Spinal muscular atrophy with congenital bone fractures 1,"[Spinal muscular atrophy, type i, with congenital bone fractures]","Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {5:Knierim et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures\n\nSee also SMABF2 ({616867}), caused by mutation in the ASCC1 gene ({614215}) on chromosome 10q22.",[616866],[486811],[Prenatal-onset spinal muscular atrophy with congenital bone fractures],[17882],,Spinal muscular atrophy type 1 with congenital bone fractures,TRUE,FALSE,Active +GARD:4948,Legacy,GARD,,,,,,,,,,,,Spine rigid cardiomyopathy,TRUE,FALSE,Retired +GARD:4949,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia autosomal recessive 1,TRUE,FALSE,Retired +GARD:495,Legacy,GARD,,,,,,,,,,,,Acrofacial dysostosis Preis type,TRUE,FALSE,Active +GARD:4950,Active,Orphanet,ORPHA:211017,Disorder,[Disease],Spinocerebellar ataxia type 30,[SCA30],An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.,[613371],,,,,Spinocerebellar ataxia 30,TRUE,FALSE,Active +GARD:4952,Active,Orphanet,ORPHA:95434,Disorder,[Disease],Autosomal recessive cerebellar ataxia-movement disorder syndrome,"[SCAR4, SCASI]","A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.",[607317],,,,,Spinocerebellar ataxia autosomal recessive 4,TRUE,FALSE,Active +GARD:4953,Active,Orphanet,ORPHA:98766,Disorder,[Disease],Spinocerebellar ataxia type 5,[SCA5],An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.,[600224],,,,,Spinocerebellar ataxia 5,TRUE,FALSE,Active +GARD:4954,Active,Orphanet,ORPHA:284332,Disorder,[Disease],Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 6, SCAR6]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.",[608029],,,,,Spinocerebellar ataxia autosomal recessive 6,TRUE,FALSE,Active +GARD:4955,Active,Orphanet,ORPHA:94147,Disorder,[Disease],Spinocerebellar ataxia type 7,"[Ataxia with pigmentary retinopathy, Cerebellar syndrome-pigmentary maculopathy syndrome, SCA7]","An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.",[164500],,,,,Spinocerebellar ataxia 7,TRUE,FALSE,Active +GARD:4956,Active,Orphanet,ORPHA:98760,Disorder,[Disease],Spinocerebellar ataxia type 8,[SCA8],Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.,[608768],,,,,Spinocerebellar ataxia 8,TRUE,FALSE,Active +GARD:4958,Active,Orphanet,ORPHA:1185,Disorder,[Disease],Spinocerebellar ataxia-dysmorphism syndrome,,"A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.",[271270],,,,,Spinocerebellar ataxia with dysmorphism,TRUE,FALSE,Active +GARD:496,Active,Orphanet,ORPHA:1788,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Rodríguez type",,"A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.",[201170],,,,,Acrofacial dysostosis Rodriguez type,TRUE,FALSE,Active +GARD:4961,Legacy,GARD,,,,,,,,,,,,Spinocerebellar degenerescence book type,TRUE,FALSE,Retired +GARD:4963,Active,Orphanet,ORPHA:2063,Disorder,[Malformation syndrome],Splenogonadal fusion-limb defects-micrognathia syndrome,[SGFLD syndrome],"A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.",[183300],,,,,Splenogonadal fusion limb defects micrognatia,TRUE,FALSE,Active +GARD:4965,Legacy,GARD,,,,,,,,,,,,Split hand split foot malformation autosomal recessive,TRUE,FALSE,Active +GARD:4967,Active,Orphanet,ORPHA:2329,Disorder,[Malformation syndrome],Karsch-Neugebauer syndrome,[Split hand/split foot-nystagmus syndrome],"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.",[183800],,,,,Split hand split foot nystagmus,TRUE,FALSE,Active +GARD:4968,Legacy,GARD,,,,,,,,,,,,Split hand/foot malformation X-linked,TRUE,FALSE,Active +GARD:4969,Active,Orphanet,ORPHA:2437,Disorder,[Malformation syndrome],Czeizel-Losonci syndrome,"[Split hand with obstructive uropathy, spina bifida and diaphragmatic defects, Split hand-urinary anomalies-spina bifida syndrome]","Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.",[183802],,,,,Split hand urinary anomalies spina bifida,TRUE,FALSE,Active +GARD:497,Active,Orphanet,ORPHA:952,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Weyers type","[Curry-Hall syndrome, Weyers acrodental dysostosis, Weyers acrofacial dysostosis]","A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.",[193530],,,,,Weyers acrofacial dysostosis,TRUE,FALSE,Active +GARD:4970,Active,Orphanet,ORPHA:93357,Disorder,[Disease],SPONASTRIME dysplasia,"[Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia, Spondyloepimetaphyseal dysplasia, Sponastrime type]","A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.",[271510],,,,,Spondyloepimetaphyseal dysplasia Sponastrime type,TRUE,FALSE,Active +GARD:4971,Legacy,GARD,,,,,,,,,,,,Spondylarthropathy,TRUE,FALSE,Active +GARD:4972,Active,Orphanet,ORPHA:3180,Disorder,[Malformation syndrome],Spondylocamptodactyly syndrome,,"Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.",[600000],,,,,Spondylocamptodactyly,TRUE,FALSE,Active +GARD:4973,Active,Orphanet+OMIM,OMIM:609813,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 3, autosomal recessive",,,[609813],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 3,TRUE,FALSE,Active +GARD:4974,Active,Orphanet,ORPHA:3275,Disorder,[Malformation syndrome],Spondylocarpotarsal synostosis,[Synspondylism],"A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.",[272460],,,,,Spondylocarpotarsal synostosis syndrome,TRUE,FALSE,Active +GARD:4976,Active,Orphanet+OMIM,OMIM:613686,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 4, autosomal recessive",,,[613686],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 4,TRUE,FALSE,Active +GARD:4977,Active,Orphanet+OMIM,OMIM:271630,Subtype of disorder,[Malformation syndrome subtype],"Brachyolmia type 1, toledo type","[sed, chondroitin sulfate type, Spondyloepiphyseal dysplasia tarda, toledo type, paps-chondroitin sulfate sulfotransferase deficiency]","For a phenotypic description and discussion of heterogeneity of brachyolmia, see {271530}.",[271630],[448242],[Autosomal recessive brachyolmia],[13171],,Spondyloepiphyseal dysplasia tarda Toledo type,TRUE,FALSE,Retired +GARD:4978,Active,Orphanet,ORPHA:1855,Disorder,[Malformation syndrome],Spondyloenchondrodysplasia,"[SPENCD, Spondyloenchondromatosis, Spondylometaphyseal dysplasia with enchondromatous changes]","Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.",,,,,,Spondyloenchondrodysplasia with immune dysregulation,TRUE,FALSE,Active +GARD:4979,Active,Orphanet,ORPHA:93349,Disorder,[Disease],X-linked spondyloepimetaphyseal dysplasia,,"A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.",[300106],,,,,Spondyloepimetaphyseal dysplasia X-linked,TRUE,FALSE,Active +GARD:498,Active,Orphanet,ORPHA:245,Disorder,[Malformation syndrome],Nager syndrome,"[Mandibulofacial dysostosis with preaxial limb anomalies, NAFD, Nager acrofacial dysostosis, Preaxial acrodysostosis]","A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.",[154400],,,,,Nager acrofacial dysostosis,TRUE,FALSE,Active +GARD:4980,Active,Orphanet,ORPHA:93352,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Shohat type","[SEMD, Shohat type]","Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.",[602557],,,,,Spondyloepimetaphyseal dysplasia Shohat type,TRUE,FALSE,Active +GARD:4982,Active,Orphanet,ORPHA:93359,Disorder,[Disease],Spondyloepimetaphyseal dysplasia with joint laxity,"[SEMD-JL, SEMDJL1, Spondyloepimetaphyseal dysplasia with joint laxity type 1, Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type]","A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).","[271640, 618395]",,,,,Spondyloepimetaphyseal dysplasia joint laxity,TRUE,FALSE,Active +GARD:4984,Active,Orphanet,ORPHA:1830,Disorder,[Disease],Schimke immuno-osseous dysplasia,"[Schimke syndrome, Spondyloepiphyseal dysplasia-nephrotic syndrome]","A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.",[242900],,,,,Schimke immunoosseous dysplasia,TRUE,FALSE,Active +GARD:4985,Active,Orphanet+OMIM,OMIM:313400,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, x-linked","[Sed tarda, x-linked, spondyloepiphyseal dysplasia, late]",,[313400],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,Spondyloepiphyseal dysplasia tarda X-linked,TRUE,FALSE,Active +GARD:4987,Active,Orphanet,ORPHA:94068,Disorder,[Disease],Spondyloepiphyseal dysplasia congenita,"[Congenital spondyloepiphyseal dysplasia, SEDC, Spranger-Wiedemann disease]","Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.",[183900],,,,,Spondyloepiphyseal dysplasia congenita,TRUE,FALSE,Active +GARD:4988,Legacy,GARD,,,,,,,,,,,,"Spondylohypoplasia, arthrogryposis and popliteal pterygium",TRUE,FALSE,Active +GARD:499,Active,Orphanet,ORPHA:1787,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Palagonia type",,"A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.",[601829],,,,,Acrofacial dysostosis Palagonia type,TRUE,FALSE,Active +GARD:4991,Active,Orphanet,ORPHA:93315,Disorder,[Disease],"Spondylometaphyseal dysplasia, 'corner fracture' type","[Spondylometaphyseal dysplasia, Sutcliffe type]","Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).",[184255],,,,,Spondylometaphyseal dysplasia corner fracture type,TRUE,FALSE,Active +GARD:4992,Legacy,GARD,,,,,,,,,,,,Spondylometaphyseal dysplasia East-African type,TRUE,FALSE,Active +GARD:4993,Active,Orphanet,ORPHA:93317,Disorder,[Malformation syndrome],"Spondylometaphyseal dysplasia, Sedaghatian type",,"Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.",[250220],,,,,Spondylometaphyseal dysplasia Sedaghatian type,TRUE,FALSE,Active +GARD:4994,Active,Orphanet,ORPHA:1856,Disorder,[Disease],Spondyloperipheral dysplasia-short ulna syndrome,,"Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.",[271700],,,,,Spondyloperipheral dysplasia,TRUE,FALSE,Active +GARD:4997,Active,Orphanet,ORPHA:2903,Disorder,[Disease],Familial spontaneous pneumothorax,,"Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.",[173600],,,,,Primary spontaneous pneumothorax,TRUE,FALSE,Active +GARD:4998,Legacy,GARD,,,,,,,,,,,,Spotted fever,TRUE,FALSE,Active +GARD:4999,Legacy,GARD,,,,,,,,,,,,Spranger Schinzel Myers syndrome,TRUE,FALSE,Retired +GARD:5,Active,Orphanet,ORPHA:14,Disorder,[Disease],Abetalipoproteinemia,"[Bassen-Kornzweig disease, Homozygous familial hypobetalipoproteinemia]","A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.","[605019, 200100, 615558]",,,,,Abetalipoproteinemia,TRUE,FALSE,Active +GARD:500,Legacy,GARD,,,,,,,,,,,,"Acromegaloid changes, cutis verticis gyrata and corneal leukoma",TRUE,FALSE,Active +GARD:5000,Legacy,GARD,,,,,,,,,,,,Stalker Chitayat syndrome,TRUE,FALSE,Active +GARD:5001,Legacy,GARD,,,,,,,,,,,,Stampe sorensen syndrome,TRUE,FALSE,Retired +GARD:5003,Active,Orphanet,ORPHA:841,Disorder,[Disease],Sebocystomatosis,[Steatocystoma multiplex],"Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.",[184500],,,,,Steatocystoma multiplex,TRUE,FALSE,Active +GARD:5004,Active,Orphanet,ORPHA:3184,Disorder,[Malformation syndrome],Steatocystoma multiplex-natal teeth syndrome,,The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.,[184510],,,,,Steatocystoma multiplex with natal teeth,TRUE,FALSE,Active +GARD:501,Legacy,GARD,,,,,,,,,,,,Acromegaloid facial appearance syndrome,TRUE,FALSE,Active +GARD:5010,Legacy,GARD,,,,,,,,,,,,Sterility due to immotile flagella,TRUE,FALSE,Retired +GARD:5012,Active,Orphanet,ORPHA:2017,Disorder,[Morphological anomaly],Sternal cleft,"[Cleft sternum, Sternum bifidum]","A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.",,,,,,Sternal cleft,TRUE,FALSE,Active +GARD:5013,Legacy,GARD,,,,,,,,,,,,Sternal cyst vascular anomalies,TRUE,FALSE,Retired +GARD:5014,Legacy,GARD,,,,,,,,,,,,Sternal malformation vascular dysplasia associatio,TRUE,FALSE,Retired +GARD:5015,Active,Orphanet,ORPHA:3196,Disorder,[Disease],Steroid dehydrogenase deficiency-dental anomalies syndrome,[Lyngstadaas syndrome],"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.",,,,,,Steroid dehydrogenase deficiency dental anomalies,TRUE,FALSE,Active +GARD:5018,Active,Orphanet,ORPHA:90653,Subtype of disorder,[Clinical subtype],Stickler syndrome type 1,,,"[609508, 108300]",,,,,Stickler syndrome type 1,TRUE,FALSE,Retired +GARD:502,Legacy,GARD,,,,,,,,,,,,Acromegaloid hypertrichosis syndrome,TRUE,FALSE,Active +GARD:5020,Active,Orphanet,ORPHA:90654,Subtype of disorder,[Clinical subtype],Stickler syndrome type 2,,,[604841],,,,,"Stickler syndrome, type 2",TRUE,FALSE,Retired +GARD:5021,Active,Orphanet,ORPHA:166100,Disorder,[Malformation syndrome],Autosomal dominant otospondylomegaepiphyseal dysplasia,"[AD OSMED, Stickler syndrome type 3, Stickler syndrome, non-ocular type]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.",[184840],,,,,"Stickler syndrome, type 3",TRUE,FALSE,Retired +GARD:5023,Active,Orphanet,ORPHA:3198,Disorder,[Disease],Stiff person spectrum disorder,"[Moersch-Woltman syndrome, SMS, SPS, Stiff man syndrome]","A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.",[184850],,,,,Stiff person syndrome,TRUE,FALSE,Active +GARD:5025,Active,Orphanet,ORPHA:2833,Disorder,[Disease],Stiff skin syndrome,,"Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.","[184900, 228020]",,,,,Stiff skin syndrome,TRUE,FALSE,Active +GARD:5026,Active,Orphanet,ORPHA:3199,Disorder,[Malformation syndrome],Stimmler syndrome,,"Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.",[202900],,,,,"Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus",TRUE,FALSE,Active +GARD:5027,Active,Orphanet,ORPHA:2972,Disorder,[Malformation syndrome],Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,[Stoelinga-de Koomen-Davis syndrome],"Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.",[273050],,,,,Stoelinga de Koomen Davis syndrome,TRUE,FALSE,Retired +GARD:5029,Active,Orphanet,ORPHA:3200,Disorder,[Malformation syndrome],Arthrogryposis-ectodermal dysplasia syndrome,[Stoll-Alembik-Finck syndrome],"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.",[601701],,,,,Stoll Alembik Finck syndrome,TRUE,FALSE,Active +GARD:5032,Legacy,GARD,,,,,,,,,,,,Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia,TRUE,FALSE,Retired +GARD:5033,Legacy,GARD,,,,,,,,,,,,Familial stomach cancer,TRUE,FALSE,Retired +GARD:5034,Active,Orphanet,ORPHA:734,Disorder,[Disease],Alpha delta granule deficiency,"[Alpha dense granule deficiency, Combined alpha-delta platelet storage pool deficiency]","A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.",[185050],,,,,Platelet storage pool deficiency,TRUE,FALSE,Active +GARD:5035,Legacy,GARD,,,,,,,,,,,,Storm syndrome,TRUE,FALSE,Active +GARD:5036,Active,Orphanet,ORPHA:1277,Disorder,[Malformation syndrome],Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,[Stratton-Garcia-Young syndrome],"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).",,,,,,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,TRUE,FALSE,Active +GARD:504,Active,Orphanet,ORPHA:93316,Disorder,[Disease],"Spondylometaphyseal dysplasia, Schmidt type","[Spondylometaphyseal dysplasia with severe genu valgum, Spondylometaphyseal dysplasia, Algerian type]","Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.",[184253],,,,,Spondylometaphyseal dysplasia Algerian type,TRUE,FALSE,Active +GARD:5040,Active,Orphanet,ORPHA:1576,Group of disorders,[Clinical group],Infantile bilateral striatal necrosis,"[IBSN, Infantile striatonigral degeneration, Infantile striatonigral necrosis]","Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).","[271930, 500003]",,,,,Striatonigral degeneration infantile,TRUE,FALSE,Active +GARD:5041,Active,Orphanet,ORPHA:100984,Disorder,[Disease],Autosomal dominant spastic paraplegia type 3,[Strümpell disease],"A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.",[182600],,,,,Spastic paraplegia 3,TRUE,FALSE,Active +GARD:5045,Active,Orphanet,ORPHA:3206,Disorder,[Malformation syndrome],Stüve-Wiedemann syndrome,"[Neonatal Schwartz-Jampel syndrome, SJS2, Schwartz-Jampel syndrome type 2, Stüve-Wiedemann dysplasia]","Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.",[601559],,,,,Stuve-Wiedemann syndrome,TRUE,FALSE,Active +GARD:5049,Active,Orphanet,ORPHA:102009,Group of disorders,[Clinical group],Classic lissencephaly,[Lissencephaly type 1],,,,,,,Lissencephaly 1,TRUE,FALSE,Active +GARD:505,Legacy,GARD,,,,,,,,,,,,Acromesomelic dysplasia Campailla Martinelli type,TRUE,FALSE,Active +GARD:5050,Active,Orphanet,ORPHA:101030,Subtype of disorder,[Clinical subtype],Subependymal nodular heterotopia,,,,,,,,Subependymal nodular heterotopia,TRUE,FALSE,Active +GARD:5051,Active,Orphanet,ORPHA:3190,Subtype of disorder,[Clinical subtype],Subpulmonary stenosis,,,,,,,,Subpulmonary stenosis,TRUE,FALSE,Active +GARD:5052,Legacy,GARD,,,,,,,,,,,,Subvalvular aortic stenosis,TRUE,FALSE,Active +GARD:5053,Active,Orphanet,ORPHA:3208,Disorder,[Disease],Isolated succinate-CoQ reductase deficiency,"[Isolated mitochondrial respiratory chain complex II deficiency, Isolated succinate dehydrogenase deficiency, Isolated succinate-coenzyme Q reductase deficiency, Isolated succinate-ubiquinone reductase deficiency]","A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.","[252011, 619166, 619224, 619167]",,,,,Mitochondrial complex II deficiency,TRUE,FALSE,Active +GARD:5054,Legacy,GARD,,,,,,,,,,,,Succinic acidemia,TRUE,FALSE,Retired +GARD:5055,Legacy,GARD,,,,,,,,,,,,Succinic acidemia lactic acidosis congenital,TRUE,FALSE,Retired +GARD:5058,Active,Orphanet,ORPHA:498602,Disorder,[Morphological anomaly],Sugarman brachydactyly,[Sugarman-Hager-Kulik syndrome],"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.",[272150],,,,,Sugarman brachydactyly,TRUE,FALSE,Active +GARD:506,Active,Orphanet,ORPHA:968,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Hunter-Thompson type",[Acromesomelic dwarfism],"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.",[201250],,,,,Acromesomelic dysplasia Hunter Thompson type,TRUE,FALSE,Active +GARD:5061,Active,Orphanet,ORPHA:585,Disorder,[Disease],Multiple sulfatase deficiency,"[Juvenile sulfatidosis, Austin type, MSD, Mucosulfatidosis]","Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.",[272200],,,,,Multiple sulfatase deficiency,TRUE,FALSE,Active +GARD:5062,Active,Orphanet,ORPHA:99731,Subtype of disorder,[Clinical subtype],Isolated sulfite oxidase deficiency,"[ISOD, Sulfocysteinuria]",,[272300],,,,,Sulfite oxidase deficiency,TRUE,FALSE,Active +GARD:5066,Active,Orphanet,ORPHA:85275,Disorder,[Malformation syndrome],Microphthalmia-ankyloblepharon-intellectual disability syndrome,"[MCOPS4, Syndromic microphthalmia type 4]","Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.",,,,,,Microphthalmia syndromic 4,TRUE,FALSE,Active +GARD:5068,Active,Orphanet,ORPHA:242,Disorder,[Malformation syndrome],"46,XY complete gonadal dysgenesis","[46,XY CGD, 46,XY pure gonadal dysgenesis, Swyer syndrome]","A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.","[300018, 612965, 400044, 233420, 616425, 154230, 613080, 613762]",,,,,Swyer syndrome,TRUE,FALSE,Active +GARD:5069,Legacy,GARD,,,,,,,,,,,,Palmoplantar keratoderma of Sybert,TRUE,FALSE,Retired +GARD:507,Active,Orphanet,ORPHA:40,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Maroteaux type",,"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .",[602875],,,,,Acromesomelic dysplasia Maroteaux type,TRUE,FALSE,Active +GARD:5070,Active,Orphanet,ORPHA:1314,Disorder,[Disease],Symmetrical thalamic calcifications,[Bilateral symmetrical thalamic gliosis],"Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.",,,,,,Symmetrical thalamic calcifications,TRUE,FALSE,Active +GARD:5072,Legacy,GARD,,,,,,,,,,,,Symphalangism brachydactyly craniosynostosis,TRUE,FALSE,Retired +GARD:5074,Active,Orphanet,ORPHA:3248,Disorder,[Morphological anomaly],Distal symphalangism,,Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.,[185700],,,,,Symphalangism distal,TRUE,FALSE,Active +GARD:5075,Legacy,GARD,,,,,,,,,,,,Symphalangism familial proximal,FALSE,FALSE,Retired +GARD:5076,Legacy,GARD,,,,,,,,,,,,Symphalangism short stature accessory testis,TRUE,FALSE,Retired +GARD:5077,Active,Orphanet,ORPHA:3246,Disorder,[Malformation syndrome],Symphalangism with multiple anomalies of hands and feet,[Learman syndrome],"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.",[185750],,,,,Symphalangism with multiple anomalies of hands and feet,TRUE,FALSE,Active +GARD:5078,Legacy,GARD,,,,,,,,,,,,Syncamptodactyly scoliosis,TRUE,FALSE,Retired +GARD:508,Active,Orphanet,ORPHA:955,Disorder,[Malformation syndrome],Hajdu-Cheney syndrome,"[Acroosteolysis dominant type, Acroosteolysis with osteoporosis and changes in skull and mandible, Arthrodentoosteodysplasia, Cheney syndrome]","A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.","[102400, 102500]",,,,,Acroosteolysis dominant type,TRUE,FALSE,Active +GARD:5081,Active,Orphanet,ORPHA:93402,Disorder,[Morphological anomaly],Syndactyly type 1,,"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.","[185900, 609815]",,,,,Syndactyly type 1,TRUE,FALSE,Active +GARD:5083,Legacy,GARD,,,,,,,,,,,,Syndactyly cataract mental retardation,TRUE,FALSE,Retired +GARD:5084,Active,Orphanet,ORPHA:3258,Disorder,[Malformation syndrome],Cenani-Lenz syndrome,"[Cenani syndactyly, Cenani-Lenz syndactyly, Syndactyly type 7]",Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.,[212780],,,,,Syndactyly Cenani Lenz type,TRUE,FALSE,Active +GARD:5085,Legacy,GARD,,,,,,,,,,,,Syndactyly ectodermal dysplasia cleft lip palate hand foot,TRUE,FALSE,Active +GARD:5087,Active,Orphanet,ORPHA:93403,Disorder,[Morphological anomaly],Syndactyly type 2,[Synpolydactyly],"A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.","[610234, 608180, 186000]",,,,,Syndactyly type 2,TRUE,FALSE,Active +GARD:5088,Active,Orphanet,ORPHA:93404,Disorder,[Morphological anomaly],Syndactyly type 3,"[SD3, Syndactyly of fingers 4 and 5]","A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.",[186100],,,,,Syndactyly type 3,TRUE,FALSE,Active +GARD:5089,Active,Orphanet,ORPHA:93406,Disorder,[Morphological anomaly],Syndactyly type 5,"[Postaxial syndactyly with metacarpal synostosis, SD5]","A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.",[186300],,,,,Syndactyly type 5,TRUE,FALSE,Active +GARD:5090,Active,Orphanet,ORPHA:3259,Disorder,[Malformation syndrome],Syndactyly-polydactyly-ear lobe syndrome,,"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.",[186350],,,,,Syndactyly-polydactyly-earlobe syndrome,TRUE,FALSE,Active +GARD:5091,Active,Orphanet,ORPHA:3263,Disorder,[Malformation syndrome],Syngnathia-cleft palate syndrome,,,,,,,,Syngnathia cleft palate,TRUE,FALSE,Active +GARD:5092,Active,Orphanet,ORPHA:3262,Disorder,[Malformation syndrome],Dobrow syndrome,[Syngnathia-multiple anomalies syndrome],"Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.",,,,,,Syngnathia multiple anomalies,TRUE,FALSE,Active +GARD:5094,Legacy,GARD,,,,,,,,,,,,Synostosis of talus and calcaneus short stature,TRUE,FALSE,Active +GARD:5100,Active,Orphanet,ORPHA:840,Disorder,[Disease],Syringocystadenoma papilliferum,"[Fistulous vegetative verrucous hydradenoma, Naevus syringocystadenomatosus papilliferus, Papillary syringocystadenoma, SCAP, Syringadenoma papilliferum]","A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.",,,,,,Syringocystadenoma papilliferum,TRUE,FALSE,Active +GARD:5101,Legacy,GARD,,,,,,,,,,,,Syringomas natal teeth oligodontia,TRUE,FALSE,Retired +GARD:5102,Legacy,GARD,,,,,,,,,,,,Syringomelia hyperkeratosis,TRUE,FALSE,Retired +GARD:5104,Active,Orphanet,ORPHA:158,Disorder,[Disease],Systemic primary carnitine deficiency,"[CDSP, CUD, Carnitine transporter defect, Carnitine uptake deficiency, Deficiency of plasma-membrane carnitine transporter, SPCD]","A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.",[212140],,,,,Primary carnitine deficiency,TRUE,FALSE,Active +GARD:5106,Legacy,GARD,,,,,,,,,,,,Systemic necrotizing angitis,TRUE,FALSE,Active +GARD:5107,Legacy,GARD,,,,,,,,,,,,T cell immunodeficiency primary,TRUE,FALSE,Active +GARD:5108,Legacy,GARD,,,,,,,,,,,,T-cell lymphoma 1A,TRUE,FALSE,Active +GARD:5109,Legacy,GARD,,,,,,,,,,,,Berk-Tabatznik syndrome,TRUE,FALSE,Active +GARD:511,Legacy,GARD,,,,,,,,,,,,Acro-pectoro-renal field defect,TRUE,FALSE,Active +GARD:5112,Legacy,GARD,,,,,,,,,,,,Talipes equinovarus,FALSE,FALSE,Active +GARD:5114,Legacy,GARD,,,,,,,,,,,,Tang Hsi Ryu syndrome,TRUE,FALSE,Active +GARD:5116,Active,Orphanet,ORPHA:3320,Disorder,[Malformation syndrome],Thrombocytopenia-absent radius syndrome,[TAR syndrome],Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.,[274000],,,,,TAR syndrome,TRUE,FALSE,Active +GARD:5117,Legacy,GARD,,,,,,,,,,,,TAU syndrome,TRUE,FALSE,Active +GARD:5118,Legacy,GARD,,,,,,,,,,,,"Taurodontia, absent teeth, sparse hair syndrome",TRUE,FALSE,Active +GARD:5119,Legacy,GARD,,,,,,,,,,,,Taurodontism,TRUE,FALSE,Active +GARD:512,Active,Orphanet,ORPHA:957,Disorder,[Malformation syndrome],Acropectorovertebral dysplasia,[F syndrome],"A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).",[102510],,,,,Acropectorovertebral dysplasia F form,TRUE,FALSE,Active +GARD:5120,Active,Orphanet,ORPHA:2636,Disorder,[Malformation syndrome],Microcephalic osteodysplastic primordial dwarfism types I and III,"[MOPD types I and III, Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type, Primordial microcephalic dwarfism, Crachami type, Taybi-Linder syndrome]","A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.","[210730, 210710]",,,,,Microcephalic osteodysplastic primordial dwarfism type 1,TRUE,FALSE,Active +GARD:5121,Active,Orphanet,ORPHA:90650,Disorder,[Malformation syndrome],Otopalatodigital syndrome type 1,"[OPD I syndrome, OPD syndrome 1, Taybi syndrome]","A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.",[311300],,,,,Oto-palato-digital syndrome type 1,TRUE,FALSE,Active +GARD:5123,Active,Orphanet,ORPHA:1094,Disorder,[Malformation syndrome],Anonychia-microcephaly syndrome,[Teebi-Kaurah syndrome],"A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.",[607214],,,,,Teebi Kaurah syndrome,TRUE,FALSE,Retired +GARD:5124,Active,Orphanet,ORPHA:1974,Disorder,[Malformation syndrome],Autosomal recessive faciodigitogenital syndrome,"[Aarskog-like syndrome, Facio-digito-genital syndrome, Kuwait type, Teebi-Naguib-Alawadi syndrome]","A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.",[227330],,,,,Teebi Naguib Al Awadi syndrome,TRUE,FALSE,Retired +GARD:5125,Active,Orphanet,ORPHA:3291,Disorder,[Malformation syndrome],Teebi-Shaltout syndrome,,"Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.",[272950],,,,,Teebi Shaltout syndrome,TRUE,FALSE,Active +GARD:5126,Active,Orphanet,ORPHA:3368,Disorder,[Malformation syndrome],Trigonocephaly-bifid nose-acral anomalies syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.",[275595],,,,,"Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet",TRUE,FALSE,Active +GARD:5127,Legacy,GARD,,,,,,,,,,,,Teeth noneruption of with maxillary hypoplasia and genu valgum,TRUE,FALSE,Retired +GARD:5128,Active,Orphanet,ORPHA:3292,Disorder,[Malformation syndrome],Tel Hashomer camptodactyly syndrome,[Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome],"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.",[211960],,,,,Tel Hashomer camptodactyly syndrome,TRUE,FALSE,Active +GARD:5133,Active,Orphanet,ORPHA:2885,Disorder,[Malformation syndrome],Piebald trait-neurologic defects syndrome,[Telfer-Sugar-Jaeger syndrome],"Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.",[172850],,,,,Telfer Sugar Jaeger syndrome,TRUE,FALSE,Active +GARD:5135,Active,Orphanet,ORPHA:98819,Disorder,[Disease],Familial temporal lobe epilepsy,,"A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.","[608096, 611631]",,,,,"Temporal epilepsy, familial",TRUE,FALSE,Active +GARD:5136,Legacy,GARD,,,,,,,,,,,,Temporomandibular ankylosis,TRUE,FALSE,Active +GARD:5138,Active,Orphanet,ORPHA:137834,Disorder,[Disease],Frank-Ter Haar syndrome,[Ter Haar syndrome],"A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.",[249420],,,,,Frank Ter Haar syndrome,TRUE,FALSE,Active +GARD:514,Active,Orphanet,ORPHA:971,Disorder,[Malformation syndrome],Acrorenal syndrome,,"A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.","[201310, 102520]",,,,,Acrorenal syndrome recessive,TRUE,FALSE,Active +GARD:5140,Active,Orphanet,ORPHA:180226,Disorder,[Disease],Embryonal carcinoma,,,,,,,,Embryonal carcinoma,TRUE,FALSE,Active +GARD:5144,Active,Orphanet,ORPHA:3299,Disorder,[Disease],Tetanus,,"A toxin-mediated infection due to the anaerobic bacteria Clostridium tetani and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.",,,,,,Tetanus,TRUE,FALSE,Active +GARD:5146,Legacy,GARD,,,,,,,,,,,,Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities,TRUE,FALSE,Retired +GARD:5147,Legacy,GARD,,,,,,,,,,,,Tetraamelia with pulmonary hypoplasia,TRUE,FALSE,Active +GARD:5148,Active,Orphanet,ORPHA:294971,Disorder,[Morphological anomaly],Tetra-amelia,[Total amelia],"A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.",,,,,,Tetra-amelia syndrome,TRUE,FALSE,Active +GARD:5151,Active,Orphanet,ORPHA:3305,Disorder,[Malformation syndrome],Tetraploidy,,"Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.",,,,,,Tetraploidy,TRUE,FALSE,Active +GARD:5153,Active,Orphanet,ORPHA:3306,Disorder,[Malformation syndrome],Inverted duplicated chromosome 15 syndrome,"[Duplication/inversion 15q11, Inv dup (15) syndrome, Isodicentric chromosome 15 syndrome, Non-distal tetrasomy 15q, Non-telomeric tetrasomy 15q, idic (15) syndrome]","A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.",,,,,,Isodicentric chromosome 15 syndrome,TRUE,FALSE,Active +GARD:5158,Active,Orphanet,ORPHA:1780,Disorder,[Malformation syndrome],Thakker-Donnai syndrome,[Dysmorphism-multiple structural anomalies syndrome],"Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.",[227255],,,,,Thakker-Donnai syndrome,TRUE,FALSE,Active +GARD:5159,Legacy,GARD,,,,,,,,,,,,Thalamic degeneration symmetrical infantile,TRUE,FALSE,Retired +GARD:5160,Legacy,GARD,,,,,,,,,,,,"Thalamic degeneration, symmetric infantile",TRUE,FALSE,Retired +GARD:5161,Legacy,GARD,,,,,,,,,,,,Central pain syndrome,TRUE,FALSE,Active +GARD:5165,Legacy,GARD,,,,,,,,,,,,Thanatophoric dysplasia Glasgow variant,TRUE,FALSE,Retired +GARD:5167,Legacy,GARD,,,,,,,,,,,,Theodor Hertz Goodman syndrome,TRUE,FALSE,Active +GARD:5168,Legacy,GARD,,,,,,,,,,,,Coccygodynia,TRUE,FALSE,Active +GARD:517,Legacy,GARD,,,,,,,,,,,,Fetal retinoid syndrome,TRUE,FALSE,Active +GARD:5170,Active,Orphanet,ORPHA:3235,Disorder,[Malformation syndrome],Progressive deafness with stapes fixation,"[Progressive hearing loss with stapes fixation, Stapedo-vestibular ankylosis, Thies-Reis syndrome]","Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).",[601449],,,,,Progressive deafness with stapes fixation,TRUE,FALSE,Active +GARD:5172,Legacy,GARD,,,,,,,,,,,,Thiolase deficiency,TRUE,FALSE,Retired +GARD:5173,Legacy,GARD,,,,,,,,,,,,Thiopurine S methyltranferase deficiency,TRUE,FALSE,Active +GARD:5175,Active,Orphanet,ORPHA:3316,Disorder,[Malformation syndrome],Thomas syndrome,[Potter sequence-cleft lip/palate-cardiopathy syndrome],"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.",,,,,,Thomas syndrome,TRUE,FALSE,Active +GARD:5176,Active,Orphanet,ORPHA:852,Subtype of disorder,[Etiological subtype],X-linked thrombocytopenia with normal platelets,,,[313900],,,,,X-linked thrombocytopenia,TRUE,FALSE,Active +GARD:5177,Active,Orphanet,ORPHA:2031,Disorder,[Malformation syndrome],Hepatic fibrosis-renal cysts-intellectual disability syndrome,[Thompson-Baraitser syndrome],"Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.",[213010],,,,,Thompson Baraitser syndrome,TRUE,FALSE,Retired +GARD:5179,Legacy,GARD,,,,,,,,,,,,Thoracic celosomia,TRUE,FALSE,Retired +GARD:518,Legacy,GARD,,,,,,,,,,,,Acute articular rheumatism,TRUE,FALSE,Active +GARD:5180,Active,Orphanet,ORPHA:1861,Disorder,[Malformation syndrome],Thoracic dysplasia-hydrocephalus syndrome,,"Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.",[273730],,,,,Thoracic dysplasia hydrocephalus syndrome,TRUE,FALSE,Active +GARD:5181,Active,Orphanet,ORPHA:1759,Disorder,[Malformation syndrome],Thoraco-abdominal enteric duplication,,"Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.",,,,,,Thoraco abdominal enteric duplication,TRUE,FALSE,Active +GARD:5182,Legacy,GARD,,,,,,,,,,,,Thoraco limb dysplasia Rivera type,TRUE,FALSE,Retired +GARD:5184,Active,Orphanet,ORPHA:3317,Disorder,[Malformation syndrome],Thoracolaryngopelvic dysplasia,[Barnes syndrome],"Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.","[187770, 187760]",,,,,Thoracolaryngopelvic dysplasia,TRUE,FALSE,Active +GARD:5185,Legacy,GARD,,,,,,,,,,,,Thoracopelvic dysostosis,TRUE,FALSE,Active +GARD:5186,Active,Orphanet,ORPHA:530838,Disorder,[Disease],KRT1-related diffuse nonepidermolytic keratoderma,[KRT1-related diffuse NEPPK],"A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.",[600962],,,,,Unna-Thost palmoplantar keratoderma,TRUE,FALSE,Active +GARD:5188,Active,Orphanet,ORPHA:3204,Disorder,[Disease],Stormorken-Sjaastad-Langslet syndrome,"[Stormorken syndrome, Thrombocytopathy-asplenia-miosis syndrome]","Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.",[185070],,,,,Thrombocytopathy asplenia miosis,TRUE,FALSE,Active +GARD:519,Active,Orphanet,ORPHA:724,Disorder,[Disease],Idiopathic acute eosinophilic pneumonia,[IAEP],"Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.",,,,,,Idiopathic acute eosinophilic pneumonia,TRUE,FALSE,Active +GARD:5190,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia cerebellar hypoplasia short stature,TRUE,FALSE,Retired +GARD:5191,Active,Orphanet+OMIM,OMIM:188000,Subtype of disorder,[Etiological subtype],Thrombocytopenia 2,"[Thrombocytopenia, autosomal dominant, 2]","Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by {19:Pippucci et al., 2011}).\n\nFor a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[188000],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,Thrombocytopenia 2,TRUE,FALSE,Active +GARD:5193,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia Robin sequence,TRUE,FALSE,Active +GARD:5194,Active,Orphanet,ORPHA:3002,Disorder,[Disease],Immune thrombocytopenia,"[ITP, Immune thrombocytopenic purpura]","A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.",[188030],,,,,Idiopathic thrombocytopenic purpura,TRUE,FALSE,Active +GARD:5195,Active,Orphanet,ORPHA:3324,Disorder,[Disease],Familial thrombomodulin anomalies,,"Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.",,,,,,"Thrombomodulin anomalies, familial",TRUE,FALSE,Active +GARD:5198,Legacy,GARD,,,,,,,,,,,,Thumb absent short stature immune deficiency,TRUE,FALSE,Retired +GARD:5199,Active,Orphanet,ORPHA:2251,Disorder,[Malformation syndrome],Thumb deformity-alopecia-pigmentation anomaly syndrome,[Sparse hair-short stature-skin anomalies syndrome],"Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.",[188150],,,,,"Thumb deformity, alopecia, pigmentation anomaly",TRUE,FALSE,Active +GARD:520,Legacy,GARD,,,,,,,,,,,,Acute erythroblastic leukemia,TRUE,FALSE,Retired +GARD:5200,Legacy,GARD,,,,,,,,,,,,Thumb stiffness-brachydactyly-intellectual disability syndrome,TRUE,FALSE,Active +GARD:5201,Active,Orphanet,ORPHA:3398,Group of disorders,[Category],Thymic epithelial neoplasm,"[TEN, Thymic epithelial tumor]","Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).",,,,,,Thymic epithelial tumor,TRUE,FALSE,Active +GARD:5202,Active,Orphanet,ORPHA:3326,Disorder,[Malformation syndrome],Thymic-renal-anal-lung dysplasia,,"This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.",[274265],,,,,Thymic-Renal-Anal-Lung dysplasia,TRUE,FALSE,Active +GARD:5203,Legacy,GARD,,,,,,,,,,,,Thyrocerebral-retinal syndrome,TRUE,FALSE,Active +GARD:5204,Active,Orphanet,ORPHA:93953,Disorder,[Morphological anomaly],Familial thyroglossal duct cyst,,A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.,[188455],,,,,Familial thyroglossal duct cyst,TRUE,FALSE,Active +GARD:5206,Active,Orphanet+OMIM,OMIM:188470,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 2",,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {3:Vriens et al., 2009}).\n\nFollicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by {1:Bonora et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[188470],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,"Thyroid cancer, follicular",TRUE,FALSE,Active +GARD:521,Active,Orphanet,ORPHA:3243,Disorder,[Disease],Sweet syndrome,[Acute febrile neutrophilic dermatosis],"A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced.",[608068],,,,,Acute febrile neutrophilic dermatosis,TRUE,FALSE,Active +GARD:5210,Active,Orphanet,ORPHA:3328,Disorder,[Malformation syndrome],Absent tibia-polydactyly-arachnoid cyst syndrome,[Holmes-Collins syndrome],"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.",[601027],,,,,Tibia absent polydactyly arachnoid cyst,TRUE,FALSE,Active +GARD:5211,Legacy,GARD,,,,,,,,,,,,Tibiae bowed radial anomalies osteopenia fracture,TRUE,FALSE,Retired +GARD:5213,Legacy,GARD,,,,,,,,,,,,Tibial aplasia ectrodactyly hydrocephalus,TRUE,FALSE,Retired +GARD:5214,Legacy,GARD,,,,,,,,,,,,Tibial hemimelia cleft lip palate,TRUE,FALSE,Retired +GARD:5216,Active,Orphanet,ORPHA:297,Disorder,[Disease],Tick-borne encephalitis,[TBE],"Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.",,,,,,Tick-borne encephalitis,TRUE,FALSE,Active +GARD:5218,Legacy,GARD,,,,,,,,,,,,Tollner Horst Manzke syndrome,TRUE,FALSE,Active +GARD:522,Active,Orphanet,ORPHA:513,Group of disorders,[Clinical group],Acute lymphoblastic leukemia,"[ALL, Acute lymphoblastic leukemia/lymphoma, Acute lymphocytic leukemia, Precursor lymphoid neoplasm]",A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.,"[613067, 247640, 613065]",,,,,Acute lymphoblastic leukemia,TRUE,FALSE,Active +GARD:5221,Active,Orphanet,ORPHA:640,Disorder,[Malformation syndrome],Hereditary neuropathy with liability to pressure palsies,"[Current pressure-sensitive neuropathy, HNPP, Heterozygous microdeletion 17p11.2p12, Potato-grubbing palsy, Tomaculous neuropathy, Tulip-bulb digger's palsy]",A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.,[162500],,,,,Hereditary neuropathy with liability to pressure palsies,TRUE,FALSE,Active +GARD:5222,Legacy,GARD,,,,,,,,,,,,Tome Brunet Fardeau syndrome,TRUE,FALSE,Retired +GARD:5223,Legacy,GARD,,,,,,,,,,,,Toni Debre Fanconi syndrome,TRUE,FALSE,Retired +GARD:5225,Active,Orphanet,ORPHA:3338,Disorder,[Malformation syndrome],Toriello-Carey syndrome,[Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome],"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.",[217980],,,,,Toriello-Carey syndrome,TRUE,FALSE,Active +GARD:523,Legacy,GARD,,,,,,,,,,,,Acute lymphoblastic leukemia congenital sporadic aniridia,TRUE,FALSE,Active +GARD:5230,Active,Orphanet,ORPHA:3341,Disorder,[Malformation syndrome],Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,,"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.",[314300],,,,,Torticollis keloids cryptorchidism renal dysplasia,TRUE,FALSE,Active +GARD:5231,Active,Orphanet,ORPHA:293165,Disorder,[Disease],Skin fragility-woolly hair-palmoplantar keratoderma syndrome,[Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome],"Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.",[607655],,,,,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,TRUE,FALSE,Active +GARD:5232,Active,Orphanet,ORPHA:3344,Disorder,[Malformation syndrome],Weismann-Netter syndrome,"[Anterior bowing of legs with dwarfism, WNS, Weismann-Netter-Stuhl syndrome]","Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.",[112350],,,,,"Bowing of legs, anterior with dwarfism",TRUE,FALSE,Active +GARD:5233,Active,Orphanet,ORPHA:3346,Disorder,[Morphological anomaly],Tracheal agenesis,,"Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.",,,,,,Tracheal agenesis,TRUE,FALSE,Active +GARD:5234,Legacy,GARD,,,,,,,,,,,,Tracheobronchomegaly,TRUE,FALSE,Active +GARD:5235,Active,Orphanet,ORPHA:3348,Disorder,[Disease],Tracheobronchopathia osteochondroplastica,[Tracheopathia osteoplastica],"A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.",[189961],,,,,Tracheobronchopathia osteoplastica,TRUE,FALSE,Active +GARD:5236,Legacy,GARD,,,,,,,,,,,,Tracheoesophageal fistula symphalangism,TRUE,FALSE,Retired +GARD:5237,Active,Orphanet,ORPHA:293864,Disorder,[Malformation syndrome],Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,,"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.",[615710],,,,,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,TRUE,FALSE,Active +GARD:5238,Active,Orphanet,ORPHA:3052,Disorder,[Disease],X-linked intellectual disability-seizures-psoriasis syndrome,[Tranebjaerg-Svejgaard syndrome],"A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.",[309480],,,,,Tranebjaerg Svejgaard syndrome,TRUE,FALSE,Active +GARD:5239,Legacy,GARD,,,,,,,,,,,,Transcobalamin 1 deficiency,TRUE,FALSE,Active +GARD:524,Active,Orphanet,ORPHA:518,Disorder,[Disease],Acute megakaryoblastic leukemia,"[AMKL, AML M7, Acute megakaryocytic leukemia, Acute myeloid leukemia M7]","A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.",,,,,,Acute megakaryoblastic leukemia,TRUE,FALSE,Active +GARD:5240,Legacy,GARD,,,,,,,,,,,,Transient neonatal arthrogryposis,TRUE,FALSE,Retired +GARD:5242,Legacy,GARD,,,,,,,,,,,,Transverse limb deficiency hemangioma,TRUE,FALSE,Retired +GARD:5243,Active,Orphanet,ORPHA:1215,Disorder,[Disease],Autosomal dominant optic atrophy plus syndrome,"[DOA+, Optic atrophy-deafness-polyneuropathy-myopathy syndrome, Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome]","A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.","[125250, 165199, 616648]",,,,,Autosomal dominant optic atrophy plus syndrome,TRUE,FALSE,Active +GARD:5244,Legacy,GARD,,,,,,,,,,,,"Tremor hereditary essential, 1",TRUE,FALSE,Active +GARD:525,Active,Orphanet,ORPHA:514,Disorder,[Disease],Acute monoblastic/monocytic leukemia,"[AML M5, Acute monoblastic or monocytic leukemia]","A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).",,,,,,Acute monoblastic leukemia,TRUE,FALSE,Active +GARD:5250,Active,Orphanet,ORPHA:863,Disorder,[Disease],Trichinellosis,[Trichinosis],"Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.",,,,,,Trichinosis,TRUE,FALSE,Active +GARD:5252,Legacy,GARD,,,,,,,,,,,,Tricho-dento-osseous syndrome 1,TRUE,FALSE,Retired +GARD:5253,Legacy,GARD,,,,,,,,,,,,Tricho odonto onycho dermal syndrome,TRUE,FALSE,Retired +GARD:5254,Legacy,GARD,,,,,,,,,,,,Tricho odonto onychodysplasia syndactyly dominant type,TRUE,FALSE,Retired +GARD:5255,Legacy,GARD,,,,,,,,,,,,Tricho onychotic dysplasia,TRUE,FALSE,Retired +GARD:5256,Legacy,GARD,,,,,,,,,,,,Tricho onycho hypohidrotic dysplasia,TRUE,FALSE,Retired +GARD:5257,Legacy,GARD,,,,,,,,,,,,Tricho retino dento digital syndrome,TRUE,FALSE,Retired +GARD:5258,Active,Orphanet,ORPHA:84064,Disorder,[Disease],Syndromic diarrhea,"[Phenotypic diarrhea, SD/THE, Syndromic diarrhea/Tricho-hepato-enteric syndrome, Tricho-hepato-enteric syndrome, Trichohepatoenteric syndrome]","A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.","[614602, 222470]",,,,,Trichohepatoenteric syndrome,TRUE,FALSE,Active +GARD:526,Active,Orphanet,ORPHA:98833,Disorder,[Disease],Acute myeloblastic leukemia without maturation,"[AML M1, Acute myeloblastic leukemia M1]","A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.",,,,,,Acute myeloblastic leukemia without maturation,TRUE,FALSE,Active +GARD:5261,Active,Orphanet,ORPHA:3361,Disorder,[Malformation syndrome],Trichodysplasia-xeroderma syndrome,,"Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.",[190360],,,,,Trichodysplasia xeroderma,TRUE,FALSE,Active +GARD:5262,Legacy,GARD,,,,,,,,,,,,Multiple familial trichoepithelioma 1,TRUE,FALSE,Retired +GARD:5263,Active,Orphanet,ORPHA:864,Disorder,[Disease],Trichofolliculoma,,"A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.",,,,,,Trichofolliculoma,TRUE,FALSE,Active +GARD:5264,Legacy,GARD,,,,,,,,,,,,Trichomalacia,TRUE,FALSE,Retired +GARD:5266,Active,Orphanet,ORPHA:3363,Disorder,[Malformation syndrome],Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,"[Long eyelashes-intellectual disability syndrome, Oliver-McFarlane syndrome]","Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.",[275400],,,,,"Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina",TRUE,FALSE,Active +GARD:5267,Active,Orphanet,ORPHA:3355,Disorder,[Malformation syndrome],Trichoodontoonychial dysplasia,[Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region],"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.",[275450],,,,,Trichoodontoonychial dysplasia,TRUE,FALSE,Active +GARD:5269,Legacy,GARD,,,,,,,,,,,,Trichostasis spinulosa,TRUE,FALSE,Active +GARD:527,Active,Orphanet,ORPHA:98834,Disorder,[Disease],Acute myeloblastic leukemia with maturation,"[AML M2, Acute myeloblastic leukemia M2]","A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.",,,,,,Acute myeloblastic leukemia with maturation,TRUE,FALSE,Active +GARD:5270,Active,Orphanet+OMIM,OMIM:601675,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 1, photosensitive","[pibids syndrome, tay syndrome, trichothiodystrophy with congenital ichthyosis, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, Trichothiodystrophy, photosensitive]","Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by {9:Faghri et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Trichothiodystrophy\n\nAlso see TTD2 ({616390}), caused by mutation in the ERCC3/XPB gene ({133510}); TTD3 ({616395}), caused by mutation in the GTF2H5 gene ({608780}); TTD4 ({234050}), caused by mutation in the MPLKIP gene ({609188}); TTD5 ({300953}), caused by mutation in the RNF113A gene ({300951}); TTD6 ({616943}), caused by mutation in the GTF2E2 gene ({189964}); TTD7 ({618546}), caused by mutation in the TARS gene ({187790}); TTD8 ({619691}), caused by mutation in the AARS1 gene ({601065}); and TTD9 ({619692}), caused by mutation in the MARS1 gene ({156560}).",[601675],[33364],[Trichothiodystrophy],[12109],,Trichothiodystrophy photosensitive,TRUE,FALSE,Retired +GARD:5271,Active,Orphanet+OMIM,OMIM:234050,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 4, nonphotosensitive","[trichothiodystrophy-neurocutaneous syndrome, bids syndrome, amish brittle hair brain syndrome, hair-brain syndrome, Trichothiodystrophy, nonphotosensitive 1, pollitt syndrome]","Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by {6:Faghri et al., 2008}).\n\nSabinas brittle hair syndrome ({211390}) is another form of nonphotosensitive TTD.\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.",[234050],[33364],[Trichothiodystrophy],[12109],,Trichothiodystrophy nonphotosensitive,TRUE,FALSE,Retired +GARD:5274,Active,Orphanet,ORPHA:1209,Disorder,[Morphological anomaly],Tricuspid atresia,,"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.",[605067],,,,,Tricuspid atresia,TRUE,FALSE,Active +GARD:5277,Legacy,GARD,,,,,,,,,,,,Trigonocephaly bifid nose acral anomalies,TRUE,FALSE,Active +GARD:5279,Active,Orphanet,ORPHA:2995,Disorder,[Malformation syndrome],Baraitser-Winter cerebrofrontofacial syndrome,,"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.","[243310, 614583]",,,,,Baraitser-Winter syndrome,TRUE,FALSE,Active +GARD:5280,Legacy,GARD,,,,,,,,,,,,Trigonocephaly ptosis mental retardation,TRUE,FALSE,Retired +GARD:5282,Legacy,GARD,,,,,,,,,,,,Trigonomacrocephaly tibial defect polydactyly,TRUE,FALSE,Retired +GARD:5283,Legacy,GARD,,,,,,,,,,,,Trihydroxycholestanoylcoa oxidase isolated deficiency,TRUE,FALSE,Retired +GARD:5286,Active,Orphanet,ORPHA:3374,Disorder,[Morphological anomaly],Triopia,,,,,,,,Triopia,TRUE,FALSE,Active +GARD:5287,Active,Orphanet,ORPHA:868,Disorder,[Disease],Triose phosphate-isomerase deficiency,,Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.,[615512],,,,,Triosephosphate isomerase deficiency,TRUE,FALSE,Active +GARD:5288,Legacy,GARD,,,,,,,,,,,,Triphalangeal thumb non opposable,TRUE,FALSE,Active +GARD:5289,Active,Orphanet,ORPHA:93336,Disorder,[Morphological anomaly],Polydactyly of a triphalangeal thumb,"[PPD2, Preaxial polydactyly type 2]","Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).",[174500],,,,,Preaxial polydactyly type 2,TRUE,FALSE,Active +GARD:529,Active,Orphanet,ORPHA:517,Disorder,[Disease],Acute myelomonocytic leukemia,"[AML M4, AMMoL]","A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.",,,,,,Acute myelomonocytic leukemia,TRUE,FALSE,Active +GARD:5290,Active,Orphanet,ORPHA:2947,Disorder,[Malformation syndrome],Triphalangeal thumbs-brachyectrodactyly syndrome,[Carnevale-Hernández-del Castillo syndrome],"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.",[190680],,,,,Triphalangeal thumbs brachyectrodactyly,TRUE,FALSE,Active +GARD:5295,Active,Orphanet,ORPHA:3376,Disorder,[Malformation syndrome],Triploidy,,"Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.",,,,,,Triploidy,TRUE,FALSE,Active +GARD:5299,Active,Orphanet,ORPHA:171929,Disorder,[Malformation syndrome],Trisomy 10p,,Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.,,,,,,Chromosome 10p duplication,TRUE,FALSE,Active +GARD:530,Legacy,GARD,,,,,,,,,,,,Acute myeloblastic leukemia type 5,TRUE,FALSE,Retired +GARD:5304,Active,Orphanet,ORPHA:1698,Disorder,[Malformation syndrome],Mosaic trisomy 12,"[Mosaic trisomy chromosome 12, Trisomy 12 mosaicism]","Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.",,,,,,Trisomy 12 mosaicism,TRUE,FALSE,Active +GARD:5305,Active,Orphanet,ORPHA:1699,Disorder,[Malformation syndrome],Trisomy 12p,[Duplication 12p],"A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.",,,,,,Chromosome 12p duplication,TRUE,FALSE,Active +GARD:5311,Legacy,GARD,,,,,,,,,,,,Chromosome 14q duplication,TRUE,FALSE,Active +GARD:5313,Active,Orphanet,ORPHA:1706,Disorder,[Malformation syndrome],Mosaic trisomy 15,"[Mosaic trisomy chromosome 15, Trisomy 15 mosaicism]","Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.",,,,,,"Chromosome 15, trisomy mosaicism",TRUE,FALSE,Active +GARD:5314,Legacy,GARD,,,,,,,,,,,,Chromosome 15q duplication,TRUE,FALSE,Active +GARD:5315,Legacy,GARD,,,,,,,,,,,,Chromosome 16p duplication,TRUE,FALSE,Active +GARD:5316,Legacy,GARD,,,,,,,,,,,,Chromosome 16q duplication,TRUE,FALSE,Active +GARD:5317,Active,Orphanet,ORPHA:1711,Disorder,[Malformation syndrome],Mosaic trisomy 17,"[Mosaic trisomy chromosome 17, Trisomy 17 mosaicism]","Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.",,,,,,Trisomy 17 mosaicism,TRUE,FALSE,Active +GARD:5318,Active,Orphanet,ORPHA:261290,Disorder,[Malformation syndrome],Trisomy 17p,[Dup(17p)],"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.",,,,,,Chromosome 17p duplication,TRUE,FALSE,Active +GARD:532,Legacy,GARD,,,,,,,,,,,,Acute myeloblastic leukemia type 7,TRUE,FALSE,Retired +GARD:5320,Legacy,GARD,,,,,,,,,,,,Chromosome 17q duplication,TRUE,FALSE,Active +GARD:5323,Active,Orphanet,ORPHA:1715,Disorder,[Malformation syndrome],Trisomy 18p,"[Duplication 18p, Duplication of the short arm of chromosome 18, Trisomy of the short arm of chromosome 18]","A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.",,,,,,Chromosome 18p duplication,TRUE,FALSE,Active +GARD:5324,Legacy,GARD,,,,,,,,,,,,Chromosome 18q duplication,TRUE,FALSE,Active +GARD:5326,Legacy,GARD,,,,,,,,,,,,Chromosome 19q duplication,TRUE,FALSE,Active +GARD:5331,Active,Orphanet,ORPHA:1723,Disorder,[Malformation syndrome],Mosaic trisomy 2,"[Mosaic trisomy chromosome 2, Trisomy 2 mosaicism]","Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.",,,,,,Trisomy 2 mosaicism,TRUE,FALSE,Active +GARD:5332,Legacy,GARD,,,,,,,,,,,,Chromosome 20 trisomy,TRUE,FALSE,Active +GARD:5333,Active,Orphanet,ORPHA:261318,Disorder,[Malformation syndrome],Trisomy 20p,"[Dup(20p), Duplication of 20p, Partial duplication of chromosome 20p, Partial duplication of the short arm of chromosome 20, Partial trisomy of chromosome 20p, Partial trisomy of the short arm of chromosome 20]","Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.",,,,,,Chromosome 20p duplication,TRUE,FALSE,Active +GARD:5335,Legacy,GARD,,,,,,,,,,,,Trisomy 22,TRUE,FALSE,Active +GARD:5337,Legacy,GARD,,,,,,,,,,,,Chromosome 2p duplication,TRUE,FALSE,Active +GARD:5340,Legacy,GARD,,,,,,,,,,,,Chromosome 2q duplication,TRUE,FALSE,Active +GARD:5342,Active,Orphanet,ORPHA:100071,Disorder,[Malformation syndrome],Mosaic trisomy 3,"[Mosaic trisomy chromosome 3, Trisomy 3 mosaicism]","Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.",,,,,,Trisomy 3 mosaicism,TRUE,FALSE,Active +GARD:5343,Legacy,GARD,,,,,,,,,,,,Chromosome 3p duplication,TRUE,FALSE,Active +GARD:5345,Legacy,GARD,,,,,,,,,,,,Chromosome 3q duplication,TRUE,FALSE,Active +GARD:5347,Legacy,GARD,,,,,,,,,,,,Chromosome 4q duplication,TRUE,FALSE,Active +GARD:535,Legacy,GARD,,,,,,,,,,,,"Acute myeloid leukemia, adult",TRUE,FALSE,Retired +GARD:5351,Legacy,GARD,,,,,,,,,,,,Chromosome 5q duplication,TRUE,FALSE,Active +GARD:5352,Legacy,GARD,,,,,,,,,,,,Chromosome 6p duplication,TRUE,FALSE,Active +GARD:5353,Legacy,GARD,,,,,,,,,,,,Chromosome 6q duplication,TRUE,FALSE,Active +GARD:5354,Active,Orphanet,ORPHA:1747,Disorder,[Malformation syndrome],Mosaic trisomy 7,"[Mosaic trisomy chromosome 7, Trisomy 7 mosaicism]","Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.",,,,,,Mosaic trisomy 7,TRUE,FALSE,Active +GARD:5355,Legacy,GARD,,,,,,,,,,,,Chromosome 7p duplication,TRUE,FALSE,Active +GARD:5357,Legacy,GARD,,,,,,,,,,,,Chromosome 7q duplication,TRUE,FALSE,Active +GARD:5359,Active,Orphanet,ORPHA:96061,Disorder,[Malformation syndrome],Mosaic trisomy 8,"[Mosaic trisomy chromosome 8, Trisomy 8 mosaicism, Warkany syndrome]","A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.",,,,,,Mosaic trisomy 8,TRUE,FALSE,Active +GARD:536,Active,Orphanet,ORPHA:98829,Disorder,[Disease],Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),[AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)],"A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.",,,,,,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ,TRUE,FALSE,Active +GARD:5361,Legacy,GARD,,,,,,,,,,,,Chromosome 8p duplication,TRUE,FALSE,Active +GARD:5362,Active,Orphanet,ORPHA:1752,Disorder,[Malformation syndrome],Trisomy 8q,[Duplication 8q],"A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.",,,,,,Chromosome 8q duplication,TRUE,FALSE,Active +GARD:5364,Legacy,GARD,,,,,,,,,,,,Chromosome 9p duplication,TRUE,FALSE,Active +GARD:5369,Legacy,GARD,,,,,,,,,,,,Chromosome Xq duplication,TRUE,FALSE,Active +GARD:537,Legacy,GARD,,,,,,,,,,,,Acute non lymphoblastic leukemia,TRUE,FALSE,Active +GARD:5371,Legacy,GARD,,,,,,,,,,,,Trochlear dysplasia,TRUE,FALSE,Active +GARD:5372,Active,Orphanet,ORPHA:101000,Disorder,[Disease],Autosomal recessive spastic paraplegia type 20,"[Childhood-onset spastic paraparesis-distal muscle wasting syndrome, SPG20, Troyer syndrome]","Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.",[275900],,,,,Troyer syndrome,TRUE,FALSE,Active +GARD:5376,Legacy,GARD,,,,,,,,,,,,Trueb Burg Bottani syndrome,TRUE,FALSE,Active +GARD:5378,Legacy,GARD,,,,,,,,,,,,Tsukahara Azuno Kajii syndrome,TRUE,FALSE,Retired +GARD:538,Active,Orphanet,ORPHA:520,Disorder,[Disease],Acute promyelocytic leukemia,"[AML M3, AML with t(15;17)(q22;q12);(PML/RARalpha) and variants, APML, Acute myeloblastic leukemia 3, Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants]","An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.",[612376],,,,,Acute promyelocytic leukemia,TRUE,FALSE,Active +GARD:5380,Legacy,GARD,,,,,,,,,,,,"Tuberous sclerosis, type 1",TRUE,FALSE,Retired +GARD:5381,Legacy,GARD,,,,,,,,,,,,"Tuberous sclerosis, type 2",TRUE,FALSE,Retired +GARD:5388,Active,Orphanet,ORPHA:3402,Disorder,[Disease],Transient tyrosinemia of the newborn,[Transient tyrosinemia of the neonate],"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.",,,,,,Tyrosine-oxidase temporary deficiency,TRUE,FALSE,Active +GARD:5392,Active,Orphanet,ORPHA:79238,Disorder,[Disease],Galactose epimerase deficiency,"[Epimerase deficiency galactosemia, GALE deficiency, GALE-D, Galactosemia type 3, UDP-galactose-4-epimerase deficiency, Uridine diphosphate galactose-4-epimerase deficiency]","A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.",[230350],,,,,Galactose epimerase deficiency,TRUE,FALSE,Active +GARD:5393,Active,Orphanet,ORPHA:3403,Disorder,[Morphological anomaly],Uhl anomaly,,Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.,[107970],,,,,Uhl anomaly,TRUE,FALSE,Retired +GARD:5394,Active,Orphanet,ORPHA:3404,Disorder,[Malformation syndrome],Ulbright-Hodes syndrome,"[Renal dysplasia-limb defects syndrome, Renal dysplasia-mesomelia-radiohumeral fusion syndrome]","Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.",[266910],,,,,Renal dysplasia-limb defects syndrome,TRUE,FALSE,Active +GARD:5395,Active,Orphanet,ORPHA:3406,Disorder,[Disease],Ulerythema ophryogenesis,,"Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.",[604093],,,,,Ulerythema ophryogenesis,TRUE,FALSE,Active +GARD:5398,Active,Orphanet,ORPHA:2249,Disorder,[Malformation syndrome],Ulna hypoplasia-intellectual disability syndrome,,"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.",[276821],,,,,Ulna hypoplasia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:54,Active,Orphanet,ORPHA:1203,Disorder,[Morphological anomaly],Duodenal atresia,,"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.",[223400],,,,,Duodenal atresia,TRUE,FALSE,Active +GARD:540,Active,Orphanet,ORPHA:42,Disorder,[Disease],Medium chain acyl-CoA dehydrogenase deficiency,"[ACADM deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD deficiency, MCADD, Medium chain acyl-coenzyme A dehydrogenase deficiency]","Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.",[201450],,,,,Medium-chain acyl-coenzyme A dehydrogenase deficiency,TRUE,FALSE,Active +GARD:5400,Active,Orphanet,ORPHA:1122,Disorder,[Malformation syndrome],Ulnar hypoplasia-split foot syndrome,"[Ulnar hypoplasia-lobster-claw deformity of feet syndrome, Van den Berghe-Dequecker syndrome]","Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.",[314360],,,,,Ulnar hypoplasia lobster claw deformity of feet,TRUE,FALSE,Active +GARD:5403,Active,Orphanet,ORPHA:3405,Disorder,[Malformation syndrome],Umbilical cord ulceration-intestinal atresia syndrome,,"A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.",,,,,,Umbilical cord ulceration and intestinal atresia,TRUE,FALSE,Active +GARD:5404,Active,Orphanet,ORPHA:1410,Disorder,[Disease],Uncombable hair syndrome,[Pili trianguli et canaliculi],"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.","[617251, 617252, 191480]",,,,,Uncombable hair syndrome,TRUE,FALSE,Active +GARD:5406,Legacy,GARD,,,,,,,,,,,,"Chromosome 10, uniparental disomy",TRUE,FALSE,Active +GARD:5407,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 11,TRUE,FALSE,Active +GARD:5408,Active,Orphanet,ORPHA:97685,Subtype of disorder,[Clinical subtype],17q11 microdeletion syndrome,"[Del(17)(q11), Monosomy 17q11, NF1 microdeletion syndrome, Neurofibromatosis type 1 microdeletion syndrome]","17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.",[613675],,,,,Chromosome 17q11.2 deletion syndrome,TRUE,FALSE,Active +GARD:5409,Active,Orphanet,ORPHA:96334,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,[UPD(14)pat],,[608149],,,,,Paternal uniparental disomy of chromosome 14,TRUE,FALSE,Active +GARD:5411,Legacy,GARD,,,,,,,,,,,,"Chromosome 16, uniparental disomy",TRUE,FALSE,Active +GARD:5412,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 2,TRUE,FALSE,Active +GARD:5413,Legacy,GARD,,,,,,,,,,,,"Chromosome 21, uniparental disomy",TRUE,FALSE,Active +GARD:5415,Legacy,GARD,,,,,,,,,,,,"Chromosome 5, uniparental disomy",TRUE,FALSE,Active +GARD:5416,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 6,TRUE,FALSE,Active +GARD:5421,Active,Orphanet,ORPHA:3408,Disorder,[Malformation syndrome],Upington disease,[Hip dysplasia-enchondromata-ecchondroma syndrome],"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.",[191520],,,,,Upington disease,TRUE,FALSE,Active +GARD:5424,Legacy,GARD,,,,,,,,,,,,Upton Young syndrome,TRUE,FALSE,Retired +GARD:5425,Active,Orphanet,ORPHA:488,Disorder,[Morphological anomaly],Urachal cyst,,"Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.",,,,,,Urachal cyst,TRUE,FALSE,Active +GARD:5426,Active,Orphanet,ORPHA:3409,Disorder,[Malformation syndrome],Urban-Rogers-Meyer syndrome,"[Intellectual disability-short stature-hand contractures-genital anomalies syndrome, Prader-Willi habitus-osteopenia-camptodactyly syndrome]","This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.",[264010],,,,,"Prader-Willi habitus, osteopenia, and camptodactyly",TRUE,FALSE,Active +GARD:5427,Active,Orphanet,ORPHA:1839,Disorder,[Malformation syndrome],Hereditary mucoepithelial dysplasia,[Urban-Schosser-Spohn syndrome],"A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.",[158310],,,,,Hereditary mucoepithelial dysplasia,TRUE,FALSE,Active +GARD:5428,Legacy,GARD,,,,,,,,,,,,Urethral obstruction sequence,TRUE,FALSE,Active +GARD:5429,Active,Orphanet,ORPHA:30,Disorder,[Disease],Hereditary orotic aciduria,"[Orotidylic decarboxylase deficiency, Uridine monophosphate synthetase deficiency]","A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.",[258900],,,,,Orotic aciduria type 1,TRUE,FALSE,Active +GARD:5430,Active,Orphanet,ORPHA:1655,Disorder,[Malformation syndrome],Müllerian derivatives-lymphangiectasia-polydactyly syndrome,[Urioste syndrome],"A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.",[235255],,,,,Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly,TRUE,FALSE,Active +GARD:5432,Legacy,GARD,,,,,,,,,,,,Urogenital adysplasia,TRUE,FALSE,Active +GARD:5433,Legacy,GARD,,,,,,,,,,,,Uropathy distal obstructive polydactyly,TRUE,FALSE,Retired +GARD:5435,Active,Orphanet,ORPHA:231169,Subtype of disorder,[Clinical subtype],Usher syndrome type 1,[USH1],"A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.","[602097, 614990, 602083, 612632, 276900, 614869, 618632, 276904, 606943, 601067]",,,,,"Usher syndrome, type 1",TRUE,FALSE,Active +GARD:5436,Active,Orphanet+OMIM,OMIM:276900,Subtype of disorder,[Clinical subtype],"Usher syndrome, type i","[retinitis pigmentosa and congenital deafness, Us1]","Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({42:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss. Patients with type IV (USH4; {618144}) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement ({32:Khateb et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type I\n\nUSH type I is genetically heterogeneous. USH1C ({276904}), the 'Acadian variety,' is caused by mutation in harmonin ({605242}), on 11p15. USH1D ({601067}) is caused by mutation in the cadherin-23 (CDH23; {605516}) on 10q21. USH1F ({602083}) is caused by mutation in the protocadherin-15 (PCDH15; {605514}) on 10q22. USH1G ({606943}) is caused by mutation in the SANS gene ({607696}), on 17q25. USH1E ({602097}) maps to 21q21, and USH1H ({612632}) maps to 15q22-q23. USH1J ({614869}) is caused by mutation in the CIB2 gene ({605564}) on 15q24. USH1K ({614990}) maps to chromosome 10p11.21-q21.1.\n\nA form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.\n\n{17:Gerber et al. (2006)} presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.\n\n{4:Ahmed et al. (2003)} reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.",[276900],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1B",TRUE,FALSE,Active +GARD:5437,Active,Orphanet+OMIM,OMIM:276904,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ic","[Usher syndrome, type i, acadian variety]","Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({9:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[276904],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1C",TRUE,FALSE,Active +GARD:5438,Active,Orphanet+OMIM,OMIM:601067,Subtype of disorder,[Clinical subtype],"Usher syndrome, type id",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({3:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see {276900}.",[601067],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1D",TRUE,FALSE,Active +GARD:5439,Active,Orphanet+OMIM,OMIM:602097,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ie",,"Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by {1:Chaib et al., 1997}).\n\nFor a discussion of genetic heterogeneity of USH type I, see {276900}.",[602097],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1E",TRUE,FALSE,Active +GARD:5440,Active,Orphanet,ORPHA:231178,Subtype of disorder,[Clinical subtype],Usher syndrome type 2,[USH2],"A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.","[276901, 611383, 605472]",,,,,Usher syndrome type 2A,TRUE,FALSE,Active +GARD:5441,Legacy,GARD,,,,,,,,,,,,"Usher syndrome, type 2B",TRUE,FALSE,Active +GARD:5442,Active,Orphanet,ORPHA:231183,Subtype of disorder,[Clinical subtype],Usher syndrome type 3,[USH3],"A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.","[500004, 276902, 614504]",,,,,Usher syndrome type 3A,TRUE,FALSE,Active +GARD:5443,Active,Orphanet,ORPHA:887,Disorder,[Malformation syndrome],VACTERL/VATER association,"[VACTERL association, VATER association]","VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.",[192350],,,,,VACTERL association,TRUE,FALSE,Active +GARD:5444,Legacy,GARD,,,,,,,,,,,,Vacuolar myopathy,FALSE,FALSE,Retired +GARD:5445,Active,Orphanet,ORPHA:3109,Disorder,[Malformation syndrome],Mayer-Rokitansky-Küster-Hauser syndrome,"[MRKH syndrome, Rokitansky syndrome]",Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).,"[277000, 601076]",,,,,Mayer-Rokitansky-Kuster-Hauser syndrome,TRUE,FALSE,Retired +GARD:5447,Active,Orphanet,ORPHA:1906,Disorder,[Malformation syndrome],Fetal valproate spectrum disorder,"[Fetal valproate syndrome, Fetal valproic acid syndrome, Valproic acid embryopathy]","A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).",[609442],,,,,Fetal valproate syndrome,TRUE,FALSE,Active +GARD:5448,Legacy,GARD,,,,,,,,,,,,Van Allen Myhre syndrome,TRUE,FALSE,Retired +GARD:545,Legacy,GARD,,,,,,,,,,,,Adducted thumbs Dundar type,TRUE,FALSE,Retired +GARD:5453,Active,Orphanet,ORPHA:3417,Disorder,[Malformation syndrome],Van den Bosch syndrome,,"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.",[314500],,,,,Van Den Bosch syndrome,TRUE,FALSE,Active +GARD:5456,Active,Orphanet,ORPHA:314679,Disorder,[Malformation syndrome],Cerebrofacioarticular syndrome,[Van Maldergem syndrome],"Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.","[615546, 601390]",,,,,Cerebro-facio-articular syndrome,TRUE,FALSE,Active +GARD:5457,Legacy,GARD,,,,,,,,,,,,Van Regemorter Pierquin Vamos syndrome,TRUE,FALSE,Retired +GARD:5458,Legacy,GARD,,,,,,,,,,,,Orofaciodigitale syndrome 6,TRUE,FALSE,Retired +GARD:5459,Legacy,GARD,,,,,,,,,,,,Varicella virus antenatal infection,TRUE,FALSE,Retired +GARD:546,Active,Orphanet,ORPHA:976,Disorder,[Disease],Adenine phosphoribosyltransferase deficiency,"[2,8-dihydroxyadenine urolithiasis, APRT deficiency]","A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.",[614723],,,,,Adenine phosphoribosyltransferase deficiency,TRUE,FALSE,Active +GARD:5461,Active,Orphanet,ORPHA:48,Disorder,[Morphological anomaly],Congenital bilateral absence of vas deferens,"[Congenital bilateral agenesis of vas deferens, Congenital bilateral aplasia of vas deferens]",Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.,"[300985, 277180]",,,,,Congenital bilateral absence of the vas deferens,TRUE,FALSE,Active +GARD:5463,Legacy,GARD,,,,,,,,,,,,Vascular malposition,TRUE,FALSE,Retired +GARD:5465,Legacy,GARD,,,,,,,,,,,,Vasquez Hurst Sotos syndrome,TRUE,FALSE,Active +GARD:5467,Active,Orphanet,ORPHA:1053,Disorder,[Morphological anomaly],Vein of Galen aneurysmal malformation,[Vein of Galen arteriovenous malformations],A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.,[618196],,,,,Vein of Galen aneurysm,TRUE,FALSE,Active +GARD:5469,Active,Orphanet,ORPHA:3424,Disorder,[Malformation syndrome],Velo-facial-skeletal syndrome,,"A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.",[600736],,,,,Velofacioskeletal syndrome,TRUE,FALSE,Active +GARD:547,Active,Orphanet,ORPHA:45,Disorder,[Disease],Adenosine monophosphate deaminase deficiency,"[AMP deaminase deficiency, Myoadenylate deaminase deficiency]","A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.","[615511, 612874]",,,,,Adenosine monophosphate deaminase 1 deficiency,TRUE,FALSE,Active +GARD:5470,Active,Orphanet,ORPHA:2291,Disorder,[Morphological anomaly],Congenital velopharyngeal incompetence,,"A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.",[167500],,,,,Palatopharyngeal incompetence,TRUE,FALSE,Active +GARD:5472,Active,Orphanet,ORPHA:3201,Disorder,[Malformation syndrome],Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,[Stoll-Kieny-Dott syndrome],"This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).",[192445],,,,,Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence,TRUE,FALSE,Active +GARD:5474,Legacy,GARD,,,,,,,,,,,,"Ventricular fibrillation, idiopathic",TRUE,FALSE,Active +GARD:5476,Active,Orphanet,ORPHA:860,Disorder,[Morphological anomaly],Congenitally uncorrected transposition of the great arteries,"[Congenitally uncorrected transposition of the great vessels, D-transposition of the great arteries, Dextro-transposition of the great arteries, Isolated ventriculoarterial discordance, Ventriculoarterial discordance with atrioventricular concordance]","Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.","[613854, 608808]",,,,,"Ventriculoarterial discordance, isolated",TRUE,FALSE,Active +GARD:5477,Legacy,GARD,,,,,,,,,,,,Ventruto Digirolamo Festa syndrome,TRUE,FALSE,Retired +GARD:5478,Active,Orphanet,ORPHA:2899,Disorder,[Malformation syndrome],Brachyolmia-amelogenesis imperfecta syndrome,"[Platyspondyly-amelogenesis imperfecta syndrome, Verloes-Bourguignon syndrome]","An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.",[601216],,,,,Verloes Bourguignon syndrome,TRUE,FALSE,Active +GARD:548,Legacy,GARD,,,,,,,,,,,,Anemia due to Adenosine triphosphatase deficiency,TRUE,FALSE,Active +GARD:5481,Active,Orphanet,ORPHA:2551,Disorder,[Malformation syndrome],Microspherophakia-metaphyseal dysplasia syndrome,[Verloes-Van Maldergem-de Marneffe syndrome],Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.,[157151],,,,,Verloes Van Maldergem Marneffe syndrome,TRUE,FALSE,Active +GARD:5482,Active,Orphanet,ORPHA:3429,Disorder,[Malformation syndrome],Verloove Vanhorick-Brubakk syndrome,[Cleft lip-limb and heart malformations syndrome],"Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.",[215850],,,,,Verloove Vanhorick Brubakk syndrome,TRUE,FALSE,Active +GARD:5484,Active,Orphanet,ORPHA:79466,Subtype of disorder,[Clinical subtype],Inflammatory linear verrucous epidermal nevus,[ILVEN],,,,,,,Inflammatory linear verrucous epidermal nevus,TRUE,FALSE,Active +GARD:5485,Active,Orphanet,ORPHA:79468,Subtype of disorder,[Clinical subtype],Acanthokeratolytic verrucous nevus,,,,,,,,Verrucous nevus acanthokeratolytic,TRUE,FALSE,Active +GARD:5486,Legacy,GARD,,,,,,,,,,,,Vertebral body fusion overgrowth,TRUE,FALSE,Active +GARD:5487,Legacy,GARD,,,,,,,,,,,,Vertebral fusion posterior lumbosacral blepharoptosis,TRUE,FALSE,Retired +GARD:5488,Active,Orphanet,ORPHA:178382,Disorder,[Morphological anomaly],Congenital vertical talus,"[Congenital convex foot, Congenital convex pes valgus, Congenital rocker-bottom foot]","Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.",[192950],,,,,Congenital vertical talus,TRUE,FALSE,Active +GARD:5489,Legacy,GARD,,,,,,,,,,,,"Vestibulocochlear dysfunction, progressive",TRUE,FALSE,Active +GARD:5490,Active,Orphanet,ORPHA:3433,Disorder,[Malformation syndrome],Microcephaly-brachydactyly-kyphoscoliosis syndrome,[Viljoen-Kallis-Voges syndrome],"Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.",,,,,,Viljoen Kallis Voges syndrome,TRUE,FALSE,Active +GARD:5492,Legacy,GARD,,,,,,,,,,,,Viljoen Winship syndrome,TRUE,FALSE,Retired +GARD:5493,Legacy,GARD,,,,,,,,,,,,VIPoma,TRUE,FALSE,Active +GARD:5494,Active,Orphanet,ORPHA:341,Group of disorders,[Category],Viral hemorrhagic fever,,"Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).",,,,,,Viral hemorrhagic fever,TRUE,FALSE,Active +GARD:5495,Active,Orphanet,ORPHA:99916,Disorder,[Disease],Malignant Sertoli-Leydig cell tumor of the ovary,"[Androblastoma, Arrhenoblastoma, Ovarian Sertoli-Leydig cell cancer, Ovarian malignant Sertoli-Leydig cell tumor, Virilizing ovarian tumor]","A rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.",,,,,,Virilizing ovarian tumor,TRUE,FALSE,Active +GARD:5496,Active,Orphanet,ORPHA:1876,Disorder,[Disease],Oculogastrointestinal muscular dystrophy,[Visceral myopathy-familial external ophthalmoplegia syndrome],"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.",[277320],,,,,Familial visceral myopathy with external ophthalmoplegia,TRUE,FALSE,Active +GARD:5498,Legacy,GARD,,,,,,,,,,,,Vitamin A embryopathy,TRUE,FALSE,Retired +GARD:550,Active,Orphanet,ORPHA:46,Disorder,[Disease],Adenylosuccinate lyase deficiency,"[ADSL deficiency, Adenylosuccinase deficiency]","A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.",[103050],,,,,Adenylosuccinase deficiency,TRUE,FALSE,Active +GARD:5500,Active,Orphanet,ORPHA:79310,Subtype of disorder,[Clinical subtype],Vitamin B12-responsive methylmalonic acidemia type cblA,[Vitamin B12-responsive methylmalonic aciduria type cblA],,[251100],,,,,"Methylmalonic aciduria, cblA type",TRUE,FALSE,Active +GARD:5504,Legacy,GARD,,,,,,,,,,,,Vitiligo mental retardation facial dysmorphism uremia,TRUE,FALSE,Retired +GARD:5506,Legacy,GARD,,,,,,,,,,,,Vitreoretinal degeneration,TRUE,FALSE,Active +GARD:5507,Active,Orphanet,ORPHA:3086,Disorder,[Disease],Autosomal dominant vitreoretinochoroidopathy,[ADVIRC],"A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.",[193220],,,,,Autosomal dominant vitreoretinochoroidopathy,TRUE,FALSE,Active +GARD:5508,Active,Orphanet,ORPHA:26793,Disorder,[Disease],Very long chain acyl-CoA dehydrogenase deficiency,"[VLCAD deficiency, VLCADD]","Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.",[201475],,,,,VLCAD deficiency,TRUE,FALSE,Active +GARD:5509,Active,Orphanet,ORPHA:2808,Disorder,[Malformation syndrome],Laryngeal abductor paralysis,"[Familial vocal cord dysfunction, Gerhardt syndrome]",,[150260],,,,,Vocal cord dysfunction familial,TRUE,FALSE,Active +GARD:5513,Active,Orphanet,ORPHA:2578,Subtype of disorder,[Clinical subtype],Mayer-Rokitansky-Küster-Hauser syndrome type 2,"[Atypical MRKH syndrome, MRKH syndrome type 2, MURCS association, Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome]","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.",[601076],,,,,MURCS association,TRUE,FALSE,Active +GARD:5518,Active,Orphanet,ORPHA:2180,Disorder,[Malformation syndrome],Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,"[Ferlini-Ragno-Calzolari syndrome, Waaler-Aarskog syndrome]","A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.",[600991],,,,,"Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly",TRUE,FALSE,Active +GARD:5519,Active,Orphanet,ORPHA:894,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 1,"[WS1, Waardenburg syndrome type I]","A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.",[193500],,,,,Waardenburg syndrome type 1,TRUE,FALSE,Active +GARD:552,Legacy,GARD,,,,,,,,,,,,Adolescent idiopathic scoliosis,FALSE,FALSE,Active +GARD:5520,Active,Orphanet,ORPHA:895,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 2,"[WS2, Waardenburg syndrome type II]","An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.","[600193, 608890, 611584, 606662, 193510]",,,,,Waardenburg syndrome type 2,TRUE,FALSE,Active +GARD:5521,Legacy,GARD,,,,,,,,,,,,Waardenburg syndrome type 2A,TRUE,FALSE,Retired +GARD:5522,Active,Orphanet+OMIM,OMIM:600193,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2b",,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Hughes et al., 1994}). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[600193],[895],[Waardenburg syndrome type 2],[5520],,Waardenburg syndrome type 2B,TRUE,FALSE,Retired +GARD:5523,Active,Orphanet,ORPHA:896,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 3,"[Klein-Waardenburg syndrome, WS3, Waardenburg syndrome type III, Waardenburg syndrome with limb anomalies]","A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.",[148820],,,,,Waardenburg syndrome type 3,TRUE,FALSE,Active +GARD:5524,Active,Orphanet,ORPHA:897,Disorder,[Disease],Waardenburg-Shah syndrome,"[Shah-Waardenburg syndrome, WS4, Waardenburg syndrome type 4, Waardenburg-Hirschsprung syndrome]","Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).","[277580, 613265, 613266]",,,,,Waardenburg syndrome type 4,TRUE,FALSE,Active +GARD:5525,Active,Orphanet,ORPHA:3440,Disorder,[Disease],Waardenburg syndrome,,"Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.","[148820, 193500, 600193, 608890, 611584, 606662, 193510]",,,,,Waardenburg syndrome,TRUE,FALSE,Active +GARD:5528,Active,Orphanet,ORPHA:893,Disorder,[Malformation syndrome],WAGR syndrome,"[Del(11)(p13), Deletion 11p13, Monosomy 11p13, Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome]","A rare genetic disorder characterized by the association of total or partial aniridia, genitourinary anomalies (ranging from sexual ambiguity to ectopia testis), variable degrees of intellectual disability, and an increased risk of developing Wilms tumor. Glaucoma or cataract are also possible, and a minority of patients develop kidney failure. Other varaible findings may include obesity and duplicated halluces.","[612469, 194072]",,,,,WAGR syndrome,TRUE,FALSE,Active +GARD:5529,Legacy,GARD,,,,,,,,,,,,Walbaum Titran Durieux Crepin syndrome,TRUE,FALSE,Active +GARD:5530,Active,Orphanet,ORPHA:1068,Disorder,[Malformation syndrome],Aniridia-intellectual disability syndrome,[Walker-Dyson syndrome],"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.",,,,,,Walker Dyson syndrome,TRUE,FALSE,Active +GARD:5532,Active,Orphanet,ORPHA:1453,Disorder,[Malformation syndrome],Cleidorhizomelic syndrome,"[Rhizomelic shortness with clavicular defect, Wallis-Zieff-Goldblatt syndrome]",Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.,[119650],,,,,Cleidorhizomelic syndrome,TRUE,FALSE,Active +GARD:5534,Active,Orphanet,ORPHA:2510,Disorder,[Malformation syndrome],Micro syndrome,"[WARBM, Warburg micro syndrome]","Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.","[614225, 614222, 615663, 600118]",,,,,Micro syndrome,TRUE,FALSE,Active +GARD:5535,Active,Orphanet,ORPHA:3214,Disorder,[Malformation syndrome],"Deaf blind hypopigmentation syndrome, Yemenite type","[Warburg-Thomsen syndrome, Yemenite deaf-blind hypopigmentation syndrome]","Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.",[601706],,,,,Yemenite deaf-blind hypopigmentation syndrome,TRUE,FALSE,Active +GARD:5538,Active,Orphanet,ORPHA:1541,Disorder,[Malformation syndrome],"Craniosynostosis, Boston type","[Craniosynostosis, Warman type, Warman-Mulliken-Hayward syndrome]","Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.",[604757],,,,,Warman Mulliken Hayward syndrome,TRUE,FALSE,Active +GARD:5539,Active,Orphanet,ORPHA:1827,Disorder,[Malformation syndrome],Acromelic frontonasal dysplasia,"[AFND, Acromelic frontonasal dysostosis, Toriello syndrome]","A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.",[603671],,,,,Acromelic frontonasal dysostosis,TRUE,FALSE,Active +GARD:5540,Legacy,GARD,,,,,,,,,,,,Watson syndrome,TRUE,FALSE,Retired +GARD:5543,Legacy,GARD,,,,,,,,,,,,Weaver Johnson syndrome,TRUE,FALSE,Retired +GARD:5544,Legacy,GARD,,,,,,,,,,,,Weaver like syndrome,TRUE,FALSE,Retired +GARD:5545,Active,Orphanet,ORPHA:3448,Disorder,[Malformation syndrome],Weaver-Williams syndrome,,"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.",,,,,,Weaver Williams syndrome,TRUE,FALSE,Active +GARD:555,Active,Orphanet,ORPHA:95702,Disorder,[Disease],X-linked adrenal hypoplasia congenita,"[X-linked AHC, X-linked congenital adrenal hypoplasia]","A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.","[202155, 300200]",,,,,X-linked adrenal hypoplasia congenita,TRUE,FALSE,Active +GARD:5552,Active,Orphanet,ORPHA:603,Disorder,[Disease],"Distal myopathy, Welander type",[WDM],"A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.",[604454],,,,,"Welander distal myopathy, Swedish type",TRUE,FALSE,Active +GARD:5553,Legacy,GARD,,,,,,,,,,,,Weleber Hecht Bigley syndrome,TRUE,FALSE,Retired +GARD:5554,Active,Orphanet,ORPHA:1373,Disorder,[Malformation syndrome],Cataract-aberrant oral frenula-growth delay syndrome,[Wellesley-Carman-French syndrome],"Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.",[115645],,,,,Wellesley Carmen French syndrome,TRUE,FALSE,Active +GARD:5555,Active,Orphanet,ORPHA:2815,Disorder,[Malformation syndrome],Spastic paraparesis-deafness syndrome,"[Spastic paraparesis-hearing loss syndrome, Wells-Jankovic syndrome]","A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.",[312910],,,,,Wells-Jankovic syndrome,TRUE,FALSE,Active +GARD:5557,Legacy,GARD,,,,,,,,,,,,Westphal disease,TRUE,FALSE,Retired +GARD:5558,Legacy,GARD,,,,,,,,,,,,Whitaker syndrome,TRUE,FALSE,Retired +GARD:5560,Active,Orphanet,ORPHA:3207,Disorder,[Malformation syndrome],White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,[Curatolo-Cilio-Pessagno syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.",,,,,,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,TRUE,FALSE,Active +GARD:5562,Active,Orphanet,ORPHA:2779,Disorder,[Malformation syndrome],Osteopathia striata-pigmentary dermopathy-white forelock syndrome,[Whyte-Murphy syndrome],"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.",,,,,,Osteopathia striata with pigmentary dermopathy including white forelock,TRUE,FALSE,Active +GARD:5565,Active,Orphanet,ORPHA:319182,Disorder,[Malformation syndrome],Wiedemann-Steiner syndrome,[Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome],"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.",[605130],,,,,Wiedemann-Steiner syndrome,TRUE,FALSE,Active +GARD:5566,Legacy,GARD,,,,,,,,,,,,Wiedemann Oldigs Oppermann syndrome,TRUE,FALSE,Active +GARD:5567,Legacy,GARD,,,,,,,,,,,,Wiedemann Opitz syndrome,TRUE,FALSE,Retired +GARD:5569,Active,Orphanet,ORPHA:3456,Disorder,[Malformation syndrome],Wildervanck syndrome,[Cervicooculoacoustic syndrome],"Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.",[314600],,,,,Wildervanck syndrome,TRUE,FALSE,Active +GARD:5570,Legacy,GARD,,,,,,,,,,,,Wilkes Stevenson syndrome,TRUE,FALSE,Retired +GARD:5573,Active,Orphanet,ORPHA:99147,Disorder,[Disease],Acquired von Willebrand syndrome,[Acquired von Willebrand disease],"A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.",,,,,,Acquired Von Willebrand syndrome,TRUE,FALSE,Active +GARD:5574,Legacy,GARD,,,,,,,,,,,,Willems De vries syndrome,TRUE,FALSE,Retired +GARD:5575,Active,Orphanet,ORPHA:739,Disorder,[Disease],Prader-Willi syndrome,[Prader-Labhart-Willi syndrome],"A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.","[176270, 615547]",,,,,Prader-Willi syndrome,TRUE,FALSE,Active +GARD:5576,Active,Orphanet,ORPHA:220,Disorder,[Disease],Denys-Drash syndrome,"[Drash syndrome, Wilms tumor-DSD syndrome, Wilms tumor-disorder of sex development syndrome]","A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.",[194080],,,,,Denys-Drash syndrome,TRUE,FALSE,Active +GARD:5578,Legacy,GARD,,,,,,,,,,,,Wilms tumor and radial bilateral aplasia,TRUE,FALSE,Active +GARD:5579,Active,Orphanet,ORPHA:3459,Disorder,[Malformation syndrome],Wilson-Turner syndrome,"[WTS, X-linked intellectual disability-gynecomastia-obesity syndrome]","Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.",[309585],,,,,Wilson-Turner syndrome,TRUE,FALSE,Active +GARD:558,Active,Orphanet,ORPHA:1501,Disorder,[Disease],Adrenocortical carcinoma,,A rare cancer that arises from the adrenal cortex.,[202300],,,,,Adrenocortical carcinoma,TRUE,FALSE,Active +GARD:5580,Legacy,GARD,,,,,,,,,,,,Winkelman Bethge Pfeiffer syndrome,TRUE,FALSE,Retired +GARD:5583,Legacy,GARD,,,,,,,,,,,,Winter Harding Hyde syndrome,TRUE,FALSE,Active +GARD:5584,Active,Orphanet,ORPHA:1553,Disorder,[Malformation syndrome],Curry-Jones syndrome,[Corpus callosum agenesis-polysyndactyly syndrome],"Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.",[601707],,,,,Curry Jones syndrome,TRUE,FALSE,Active +GARD:5585,Legacy,GARD,,,,,,,,,,,,Wisconsin syndrome,TRUE,FALSE,Active +GARD:5587,Active,Orphanet,ORPHA:2228,Disorder,[Malformation syndrome],Hypodontia-dysplasia of nails syndrome,"[Hypodontia-nail dysgenesis syndrome, Tooth and nail syndrome, Witkop syndrome]",Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.,[189500],,,,,Witkop syndrome,TRUE,FALSE,Active +GARD:5589,Active,Orphanet,ORPHA:1667,Disorder,[Disease],Wolcott-Rallison syndrome,"[Early-onset diabetes mellitus with multiple epiphyseal dysplasia, WRS]","Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.",[226980],,,,,Epiphyseal dysplasia multiple with early-onset diabetes mellitus,TRUE,FALSE,Active +GARD:559,Active,Orphanet,ORPHA:44,Disorder,[Disease],Neonatal adrenoleukodystrophy,"[Intermediate PBD-ZSD, Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder, NALD]","A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).","[614867, 614885, 601539, 266510, 614871, 617370, 614873, 202370, 614877, 614920, 614863]",,,,,Neonatal adrenoleukodystrophy,TRUE,FALSE,Active +GARD:5592,Active,Orphanet,ORPHA:3464,Disorder,[Disease],Woodhouse-Sakati syndrome,"[Diabetes-hypogonadism-deafness-intellectual disability syndrome, Diabetes-hypogonadism-hearing loss-intellectual disability syndrome]","Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.",[241080],,,,,Woodhouse Sakati syndrome,TRUE,FALSE,Active +GARD:5593,Active,Orphanet+OMIM,OMIM:600546,Subtype of disorder,[Malformation syndrome subtype],Intrauterine growth retardation with increased mitomycin c sensitivity,,"{4:Woods et al. (1995)} reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. {4:Woods et al. (1995)} proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication ({2:Seckel, 1960}). Other cases were reported by {3:Upjohn (1955)} and {1:Butler et al. (1987)}. Because Seckel syndrome is likely to be heterogeneous, {4:Woods et al. (1995)} preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'",[600546],[808],[Seckel syndrome],[8562],,Intrauterine growth retardation with increased mitomycin C sensitivity,TRUE,FALSE,Active +GARD:5594,Legacy,GARD,,,,,,,,,,,,Woolly hair hypotrichosis everted lower lip and outstanding ears,TRUE,FALSE,Active +GARD:5595,Active,Orphanet,ORPHA:65282,Disorder,[Disease],Carvajal syndrome,"[KWWH type II, Keratoderma with woolly hair type II, Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome, Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome]","A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.","[615821, 605676]",,,,,Cardiomyopathy dilated with woolly hair and keratoderma,TRUE,FALSE,Active +GARD:5597,Active,Orphanet,ORPHA:170,Disorder,[Disease],Woolly hair,"[Familial woolly hair syndrome, Familial wooly hair syndrome, Hereditary woolly hair syndrome, Hereditary wooly hair syndrome, Wooly hair]",A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.,"[194300, 604379, 615896, 616760, 278150]",,,,,Woolly hair syndrome,TRUE,FALSE,Active +GARD:5598,Active,Orphanet,ORPHA:3465,Disorder,[Malformation syndrome],Worster-Drought syndrome,[Congenital suprabulbar paresis],"Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.",[185480],,,,,Worster Drought syndrome,TRUE,FALSE,Active +GARD:5599,Legacy,GARD,,,,,,,,,,,,Wright Dyck syndrome,FALSE,FALSE,Retired +GARD:5604,Legacy,GARD,,,,,,,,,,,,"X-linked intellectual disability, Turner type",TRUE,FALSE,Active +GARD:5606,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation craniofacial abnormal microcephaly club,TRUE,FALSE,Retired +GARD:5607,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation De silva type,TRUE,FALSE,Retired +GARD:5610,Legacy,GARD,,,,,,,,,,,,Brooks Wisniewski Brown syndrome,TRUE,FALSE,Active +GARD:5611,Active,Orphanet,ORPHA:3078,Disorder,[Malformation syndrome],"Severe X-linked intellectual disability, Gustavson type",,"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.",[309555],,,,,"Severe X-linked intellectual disability, Gustavson type",TRUE,FALSE,Active +GARD:5612,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation type Martinez,TRUE,FALSE,Retired +GARD:5613,Active,Orphanet+OMIM,OMIM:300387,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 63","[mental retardation, x-linked 68, Mental retardation, x-linked 63]",,[300387],[777],[X-linked non-syndromic intellectual disability],[18640],,ACSL4-related intellectual disability,TRUE,FALSE,Active +GARD:5614,Active,Orphanet+OMIM,OMIM:300419,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 29","[mental retardation, x-linked 32, mental retardation, x-linked 76, mental retardation, x-linked 38, mental retardation, x-linked 87, Mental retardation, x-linked 29, mental retardation, x-linked 43, mental retardation, x-linked 54, mental retardation, x-linked 33, mental retardation, x-linked 52]","Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE1; {308350}) to Partington syndrome ({309510}) ({8:Kato et al., 2004}; {13:Wallerstein et al., 2008}).",[300419],[777],[X-linked non-syndromic intellectual disability],[18640],,ARX-related intellectual disability,TRUE,FALSE,Active +GARD:5615,Active,Orphanet,ORPHA:3063,Disorder,[Disease],"X-linked intellectual disability, Snyder type",[Snyder-Robinson syndrome],"X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.",[309583],,,,,Snyder-Robinson syndrome,TRUE,FALSE,Active +GARD:5616,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation type Wittwer,TRUE,FALSE,Retired +GARD:5617,Active,Orphanet,ORPHA:59,Disorder,[Disease],Allan-Herndon-Dudley syndrome,"[AHDS, MCT8 deficiency, Monocarboxylate transporter 8 deficiency, X-linked intellectual disability-hypotonia syndrome]","An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.",[300523],,,,,Allan-Herndon-Dudley syndrome,TRUE,FALSE,Active +GARD:5618,Active,Orphanet,ORPHA:276,Disorder,[Disease],T-B+ severe combined immunodeficiency due to gamma chain deficiency,"[SCIDX1, T-B+ SCID due to gamma chain deficiency, T-B+ severe combined immunodeficiency, X-linked]","Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.",[300400],,,,,X-linked severe combined immunodeficiency,TRUE,FALSE,Active +GARD:562,Active,Orphanet,ORPHA:977,Disorder,[Disease],Adrenomyodystrophy,,"An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.",[300270],,,,,Adrenomyodystrophy,TRUE,FALSE,Active +GARD:5620,Active,Orphanet,ORPHA:93602,Subtype of disorder,[Etiological subtype],Xanthinuria type II,"[XDH and AOX dual deficiency, Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency]","Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.",[603592],,,,,Xanthinuria type 2,TRUE,FALSE,Active +GARD:5621,Active,Orphanet,ORPHA:93601,Subtype of disorder,[Etiological subtype],Xanthinuria type I,"[XDH deficiency, XO deficiency, XOR deficiency, Xanthine dehydrogenase deficiency, Xanthine oxidase deficiency, Xanthine oxidoreductase deficiency]","Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.",[278300],,,,,Xanthinuria type 1,TRUE,FALSE,Active +GARD:5622,Active,Orphanet,ORPHA:909,Disorder,[Disease],Cerebrotendinous xanthomatosis,"[CTX, Sterol 27-hydroxylase deficiency]","Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.",[213700],,,,,Cerebrotendinous xanthomatosis,TRUE,FALSE,Active +GARD:5623,Active,Orphanet,ORPHA:3202,Disorder,[Disease],Dehydrated hereditary stomatocytosis,[Hereditary xerocytosis],"Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.","[616689, 194380]",,,,,Dehydrated hereditary stomatocytosis,TRUE,FALSE,Active +GARD:5624,Active,Orphanet+OMIM,OMIM:278700,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group a","[xeroderma pigmentosum i, Xp, group a]","Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome ({278800}) ({41:Satokata et al., 1992}).\n\nSee also XPB ({610651}), XPC ({278720}), XPD ({278730}), XPE ({278740}), XPF ({278760}), XPG ({278780}), and variant XP (XPV; {278750}).",[278700],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 1",TRUE,FALSE,Retired +GARD:5625,Active,Orphanet+OMIM,OMIM:610651,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group b","[Xp, group b]","For a general discussion of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).\n\n{1:Cleaver (1990)} provided a review of the causes of xeroderma pigmentosum.",[610651],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,"Xeroderma pigmentosum, type 2",TRUE,FALSE,Retired +GARD:5626,Active,Orphanet+OMIM,OMIM:278720,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group c","[xeroderma pigmentosum iii, Xpcc, xp, group c]","Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by {12:Li et al., 1993}).\n\nFor a general discussion of xeroderma pigmentosum, see XPA ({278700}).",[278720],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 3",TRUE,FALSE,Retired +GARD:5627,Active,Orphanet+OMIM,OMIM:278740,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group e","[xp, group e, xeroderma pigmentosum v, Xpe]",,[278740],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 5",TRUE,FALSE,Retired +GARD:5628,Active,Orphanet+OMIM,OMIM:278760,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group f","[Xp, group f, xeroderma pigmentosum vi]","Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by {4:Kashiyama et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).",[278760],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,"Xeroderma pigmentosum, type 6",TRUE,FALSE,Retired +GARD:5629,Active,Orphanet+OMIM,OMIM:278780,Subtype of disorder,"[Clinical subtype, Disease subtype]","Xeroderma pigmentosum, complementation group g","[Xp, group g, xeroderma pigmentosum vii]","For a general description of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}). Complementation group G has one of the smallest series of cases ({1:Arlett et al., 1980}).",[278780],"[220295, 1466, 910]","[Xeroderma pigmentosum, COFS syndrome, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 6027, 17130]",,Xeroderma pigmentosum type 7,TRUE,FALSE,Retired +GARD:563,Legacy,GARD,,,,,,,,,,,,Idiopathic neutropenia,FALSE,FALSE,Active +GARD:5630,Active,Orphanet,ORPHA:90342,Disorder,[Disease],Xeroderma pigmentosum variant,[XPV],"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.",[278750],,,,,"Xeroderma pigmentosum, variant type",TRUE,FALSE,Active +GARD:5631,Legacy,GARD,,,,,,,,,,,,Xeroderma talipes enamel defects,TRUE,FALSE,Retired +GARD:564,Active,Orphanet,ORPHA:83420,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 4,"[SMA type 4, SMA type IV, SMA-IV, SMA4, Spinal muscular atrophy, adult form]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with adult onset, slowly progressive, mild proximal muscle weakness.",[271150],,,,,Spinal muscular atrophy type 4,TRUE,FALSE,Active +GARD:5642,Active,Orphanet,ORPHA:916,Disorder,[Malformation syndrome],Aase-Smith syndrome,"[Aase-Smith I syndrome, Hydrocephalus-cleft palate-joint contractures syndrome]","A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.",[147800],,,,,Hydrocephalus-cleft palate-joint contractures syndrome,TRUE,FALSE,Active +GARD:5643,Active,Orphanet,ORPHA:101,Disorder,[Disease],Dentatorubral pallidoluysian atrophy,"[DRPLA, Dentatorubropallidoluysian atrophy, Naito-Oyanagi disease]","A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.",[125370],,,,,Dentatorubral-pallidoluysian atrophy,TRUE,FALSE,Active +GARD:5644,Active,Orphanet+OMIM,OMIM:601154,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1e","[Cardiomyopathy, dilated, with conduction disorder and arrhythmia, cardiomyopathy, dilated, with conduction defect 2]",,[601154],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy 1E,TRUE,FALSE,Active +GARD:5648,Active,Orphanet,ORPHA:166409,Disorder,[Disease],Photosensitive epilepsy,,"A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.","[609572, 609573, 132100]",,,,,Photosensitive epilepsy,TRUE,FALSE,Active +GARD:5651,Legacy,GARD,,,,,,,,,,,,Polymorphous low-grade adenocarcinoma,TRUE,FALSE,Active +GARD:5653,Active,Orphanet,ORPHA:251576,Subtype of disorder,[Histopathological subtype],Gliosarcoma,,,,,,,,Gliosarcoma,TRUE,FALSE,Active +GARD:5654,Active,Orphanet,ORPHA:163699,Disorder,[Disease],Alveolar soft tissue sarcoma,"[ASPS, Alveolar soft part sarcoma]","A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.",[606243],,,,,Alveolar soft part sarcoma,TRUE,FALSE,Active +GARD:5657,Active,Orphanet,ORPHA:42642,Disorder,[Disease],PFAPA syndrome,"[Marshall syndrome with periodic fever, Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome]","PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.",,,,,,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis",TRUE,FALSE,Active +GARD:5658,Active,Orphanet,ORPHA:90795,Disorder,[Disease],Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,"[CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency]","A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.",[202010],,,,,11-beta-hydroxylase deficiency,TRUE,FALSE,Active +GARD:5659,Active,Orphanet,ORPHA:752,Disorder,[Disease],"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","[17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency]","17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.",[264300],,,,,17-beta hydroxysteroid dehydrogenase 3 deficiency,TRUE,FALSE,Active +GARD:5660,Legacy,GARD,,,,,,,,,,,,18 Hydroxylase deficiency,TRUE,FALSE,Active +GARD:5661,Active,Orphanet,ORPHA:79315,Disorder,[Disease],D-2-hydroxyglutaric aciduria,"[D-2-HGA, D-2-hydroxyglutaric acidemia]","D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.","[600721, 613657]",,,,,D-2-hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:5662,Active,Orphanet,ORPHA:939,Disorder,[Disease],3-hydroxyisobutyric aciduria,,"A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.",[236795],,,,,3-Hydroxyisobutyric aciduria,TRUE,FALSE,Active +GARD:5663,Active,Orphanet,ORPHA:67047,Disorder,[Disease],3-methylglutaconic aciduria type 3,"[Autosomal recessive optic atrophy plus syndrome, Autosomal recessive optic atrophy type 3, Costeff optic atrophy syndrome, Costeff syndrome, Infantile optic atrophy with chorea and spastic paraplegia, MGA3]",3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.,[258501],,,,,OPA3 defect,TRUE,FALSE,Active +GARD:5665,Active,Orphanet+OMIM,OMIM:210200,Subtype of disorder,[Disease subtype],3-methylcrotonyl-coa carboxylase 1 deficiency,"[mcc1 deficiency, methylcrotonylglycinuria type i, Mccd type 1, 3-methylcrotonylglycinuria i]",,[210200],[6],[3-methylcrotonyl-CoA carboxylase deficiency],[10954],,3 Methylcrotonyl-CoA carboxylase 1 deficiency,TRUE,FALSE,Retired +GARD:5666,Active,Orphanet,ORPHA:7,Disorder,[Malformation syndrome],3C syndrome,"[Craniocerebellocardiac dysplasia, Ritscher-Schinzel syndrome]","Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).","[300963, 619135, 220210]",,,,,Dandy-Walker like malformation with atrioventricular septal defect,TRUE,FALSE,Active +GARD:5667,Active,Orphanet,ORPHA:2616,Disorder,[Malformation syndrome],3M syndrome,"[3-M syndrome, Yakut short stature syndrome]","A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.","[273750, 612921, 614205]",,,,,3M syndrome,TRUE,FALSE,Active +GARD:5668,Active,Orphanet,ORPHA:2118,Disorder,[Disease],Hawkinsinuria,"[4-HPPD deficiency, 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency]","Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.",[140350],,,,,Hawkinsinuria,TRUE,FALSE,Active +GARD:5671,Active,Orphanet,ORPHA:243,Disorder,[Malformation syndrome],"46,XX gonadal dysgenesis","[46,XX complete gonadal dysgenesis, 46,XX ovarian dysgenesis, 46,XX pure gonadal dysgenesis, FSH-RO, Follicular stimulating hormone-resistant ovaries, Hypergonadotropic ovarian dysgenesis, XX female gonadal dysgenesis, XX-GD]","46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.","[618723, 300510, 614324, 233300, 618117, 618078]",,,,,"46,XX Gonadal dysgenesis epibulbar dermoid",TRUE,FALSE,Active +GARD:5672,Active,Orphanet,ORPHA:3375,Disorder,[Malformation syndrome],Trisomy X,"[47,XXX syndrome, Triple X syndrome, Triplo-X syndrome, XXX syndrome]","Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).",,,,,,47 XXX syndrome,TRUE,FALSE,Active +GARD:5674,Active,Orphanet,ORPHA:8,Disorder,[Malformation syndrome],"47,XYY syndrome","[Double Y syndrome, XYY syndrome, Y disomy]","A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.",,,,,,"47, XYY syndrome",TRUE,FALSE,Active +GARD:5676,Active,Orphanet,ORPHA:96263,Disorder,[Malformation syndrome],"48,XXXY syndrome",,"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.",,,,,,"48,XXXY syndrome",TRUE,FALSE,Active +GARD:5677,Active,Orphanet,ORPHA:10,Disorder,[Malformation syndrome],"48,XXYY syndrome",,"A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.",,,,,,"48,XXYY syndrome",TRUE,FALSE,Active +GARD:5678,Active,Orphanet,ORPHA:11,Disorder,[Malformation syndrome],Pentasomy X,"[49,XXXXX syndrome, Penta-X, Poly-X]","Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).",,,,,,"49,XXXXX syndrome",TRUE,FALSE,Active +GARD:5679,Active,Orphanet,ORPHA:96264,Disorder,[Malformation syndrome],"49,XXXXY syndrome",,"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.",,,,,,"49, XXXXY syndrome",TRUE,FALSE,Active +GARD:5680,Active,Orphanet,ORPHA:753,Disorder,[Disease],"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","[46,XY DSD due to 5-alpha-reductase 2 deficiency, Pseudovaginal perineoscrotal hypospadias, Steroid 5-alpha-reductase 2 deficiency]",A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.,[264600],,,,,5-alpha reductase deficiency,TRUE,FALSE,Active +GARD:5681,Active,Orphanet,ORPHA:33572,Disorder,[Disease],5-oxoprolinase deficiency,[Oxoprolinuria due to oxoprolinase deficiency],A very heterogeneous condition characterized by 5-oxoprolinuria.,[260005],,,,,5-oxoprolinase deficiency,TRUE,FALSE,Active +GARD:5682,Active,Orphanet,ORPHA:13,Subtype of disorder,[Clinical subtype],6-pyruvoyl-tetrahydropterin synthase deficiency,[Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency],"6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.",[261640],,,,,6-pyruvoyl-tetrahydropterin synthase deficiency,TRUE,FALSE,Active +GARD:5683,Active,Orphanet,ORPHA:818,Disorder,[Malformation syndrome],Smith-Lemli-Opitz syndrome,"[7-dehydrocholesterol reductase deficiency, RSH syndrome, SLOS]","Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.",[270400],,,,,Smith-Lemli-Opitz syndrome,TRUE,FALSE,Active +GARD:5686,Active,Orphanet,ORPHA:371,Disorder,[Disease],Glycogen storage disease due to muscle phosphofructokinase deficiency,"[GSD due to muscle phosphofructokinase deficiency, GSD type 7, GSD type VII, Glycogen storage disease type 7, Glycogen storage disease type VII, Glycogenosis due to muscle phosphofructokinase deficiency, Glycogenosis type 7, Glycogenosis type VII, Tarui disease]","Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.",[232800],,,,,Glycogen storage disease type 7,TRUE,FALSE,Active +GARD:5688,Active,Orphanet,ORPHA:1777,Disorder,[Malformation syndrome],Temtamy syndrome,"[Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, Temtamy-Shalash syndrome]","A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.",[218340],,,,,Temtamy syndrome,TRUE,FALSE,Active +GARD:5690,Legacy,GARD,,,,,,,,,,,,Rapp-Hodgkin syndrome,TRUE,FALSE,Retired +GARD:5691,Active,Orphanet,ORPHA:773,Disorder,[Disease],Refsum disease,"[Adult Refsum disease, Classic Refsum disease, HMSN 4, HMSN IV, Hereditary motor and sensory neuropathy type 4, Hereditary motor and sensory neuropathy type IV, Heredopathia atactica polyneuritiformis, Phytanic-CoA hydroxylase deficiency]","A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.","[266500, 614879]",,,,,Refsum disease,TRUE,FALSE,Active +GARD:5692,Active,Orphanet,ORPHA:90797,Disorder,[Disease],Partial androgen insensitivity syndrome,"[PAIS, Partial androgen resistance syndrome]","A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.",[312300],,,,,Partial androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:5693,Active,Orphanet,ORPHA:29207,Disorder,[Disease],Reactive arthritis,"[Arthritis urethritica, Fiessinger-Leroy disease, Polyarthritis enterica, Venereal arthritis]","A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection.",,,,,,Reactive arthritis,TRUE,FALSE,Active +GARD:5694,Active,Orphanet,ORPHA:791,Disorder,[Disease],Retinitis pigmentosa,,Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.,"[616544, 609923, 617023, 613575, 613750, 604393, 312600, 612095, 613794, 602594, 617781, 615922, 611131, 614181, 613767, 614500, 609913, 180210, 180100, 300155, 613769, 613617, 300605, 601414, 612572, 300424, 180104, 613582, 613809, 608133, 615233, 618173, 613861, 600852, 610282, 400004, 614494, 601718, 613428, 602772, 610359, 606068, 612943, 600138, 612712, 618613, 613801, 600059, 607921, 615725, 600132, 614180, 180105, 300029, 616562, 600105, 268060, 613341, 613464, 268025, 613660, 612165, 604232, 610599, 615565, 615434, 268000, 618955, 618345, 617460, 613758, 613983, 619007, 613810, 616394, 618826, 608380, 618195, 613862, 617433, 613731, 613194, 618697, 616469, 617304, 613581, 312612, 613827, 615780, 617123, 618220, 613756, 616188]",,,,,Retinitis pigmentosa,TRUE,FALSE,Active +GARD:5695,Active,Orphanet,ORPHA:90050,Disorder,[Disease],Retinopathy of prematurity,"[ROP, Retrolental fibroplasia]","A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.",[133780],,,,,Retinopathy of prematurity,TRUE,FALSE,Active +GARD:5696,Active,Orphanet,ORPHA:778,Disorder,[Disease],Rett syndrome,,"A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.",[312750],,,,,Rett syndrome,TRUE,FALSE,Active +GARD:5697,Active,Orphanet+OMIM,OMIM:228800,Subtype of disorder,[Clinical subtype],"Fibrosclerosis, multifocal","[Mediastinal fibrosis, familial, retroperitoneal fibrosis, familial]","{1:Comings et al. (1967)} reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. {2:Goldbach et al. (1983)} reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. {3:Phills et al. (1973)} reported retroperitoneal fibrosis in 3 sibs. {4:Zabetakis et al. (1979)} raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease.",[228800],[49041],[IgG4-related retroperitoneal fibrosis],[9568],,Multifocal fibrosclerosis,TRUE,FALSE,Active +GARD:5698,Legacy,GARD,,,,,,,,,,,,Acute respiratory distress syndrome,TRUE,FALSE,Active +GARD:5699,Active,Orphanet,ORPHA:3099,Disorder,[Disease],Rheumatic fever,[Acute rheumatic fever],"Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.",[268240],,,,,Rheumatic Fever,TRUE,FALSE,Active +GARD:5700,Legacy,GARD,,,,,,,,,,,,Rickets,TRUE,FALSE,Active +GARD:5701,Active,Orphanet,ORPHA:782,Disorder,[Malformation syndrome],Axenfeld-Rieger syndrome,"[Axenfeld syndrome, Rieger syndrome]","Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.","[601499, 180500, 602482]",,,,,Axenfeld-Rieger syndrome,TRUE,FALSE,Active +GARD:5706,Legacy,GARD,,,,,,,,,,,,Aberrant subclavian artery,TRUE,FALSE,Active +GARD:5707,Legacy,GARD,,,,,,,,,,,,Absent T lymphocytes,TRUE,FALSE,Retired +GARD:5708,Active,Orphanet,ORPHA:930,Disorder,[Disease],Idiopathic achalasia,"[Achalasia cardia, Idiopathic achalasia of esophagus, Primary achalasia]",Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.,[200400],,,,,Idiopathic achalasia,TRUE,FALSE,Active +GARD:5709,Legacy,GARD,,,,,,,,,,,,Achard Thiers syndrome,TRUE,FALSE,Active +GARD:5714,Active,Orphanet,ORPHA:365,Disorder,[Disease],Glycogen storage disease due to acid maltase deficiency,"[Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Glycogen storage disease type 2, Glycogen storage disease type II, Glycogenosis due to acid maltase deficiency, Glycogenosis type 2, Glycogenosis type II, Pompe disease]","A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.",[232300],,,,,Glycogen storage disease type 2,TRUE,FALSE,Active +GARD:5717,Legacy,GARD,,,,,,,,,,,,Acquired agranulocytosis,TRUE,FALSE,Active +GARD:572,Legacy,GARD,,,,,,,,,,,,Agyria pachygyria polymicrogyria,TRUE,FALSE,Active +GARD:5721,Active,Orphanet,ORPHA:36,Disorder,[Malformation syndrome],Acrocallosal syndrome,[ACS],"A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.",[200990],,,,,"Acrocallosal syndrome, Schinzel type",TRUE,FALSE,Active +GARD:5722,Legacy,GARD,,,,,,,,,,,,Acrodermatitis,TRUE,FALSE,Active +GARD:5723,Active,Orphanet,ORPHA:37,Disorder,[Disease],Acrodermatitis enteropathica,"[AEZ, Acrodermatitis enteropathica, zinc deficiency type, Inherited zinc deficiency]","A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.",[201100],,,,,Acrodermatitis enteropathica,TRUE,FALSE,Active +GARD:5724,Active,Orphanet,ORPHA:950,Disorder,[Malformation syndrome],Acrodysostosis,"[Acrodysplasia, Arkless-Graham syndrome, Maroteaux-Malamut syndrome]","An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.","[614613, 101800]",,,,,Acrodysostosis,TRUE,FALSE,Active +GARD:5725,Active,Orphanet,ORPHA:963,Disorder,[Disease],Acromegaly,,A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.,"[300943, 102200]",,,,,Acromegaly,TRUE,FALSE,Active +GARD:5726,Legacy,GARD,,,,,,,,,,,,Acrospiroma,TRUE,FALSE,Active +GARD:5727,Active,Orphanet,ORPHA:199296,Disorder,[Disease],Congenital isolated ACTH deficiency,,"A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.",[201400],,,,,Isolated ACTH deficiency,TRUE,FALSE,Active +GARD:5728,Active,Orphanet,ORPHA:457095,Disorder,[Disease],Actinomycosis,,"A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.",,,,,,Actinomycosis,TRUE,FALSE,Active +GARD:573,Legacy,GARD,,,,,,,,,,,,Agyria-pachygyria type 1,TRUE,FALSE,Active +GARD:5730,Legacy,GARD,,,,,,,,,,,,Acute mountain sickness,TRUE,FALSE,Active +GARD:5732,Active,Orphanet,ORPHA:79276,Disorder,[Disease],Acute intermittent porphyria,,"A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.",[176000],,,,,Acute intermittent porphyria,TRUE,FALSE,Active +GARD:5734,Legacy,GARD,,,,,,,,,,,,Acute myelocytic leukemia,TRUE,FALSE,Retired +GARD:5736,Legacy,GARD,,,,,,,,,,,,Acute necrotizing ulcerative gingivitis,TRUE,FALSE,Active +GARD:5739,Active,Orphanet,ORPHA:974,Disorder,[Malformation syndrome],Adams-Oliver syndrome,"[AOS, Congenital scalp defects with distal limb anomalies, Congenital scalp defects with distal limb reduction anomalies, Limb, scalp and skull defects]","A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.","[616028, 615297, 616589, 100300, 614814, 614219]",,,,,Adams-Oliver syndrome,TRUE,FALSE,Active +GARD:5740,Active,Orphanet,ORPHA:85138,Disorder,[Disease],Addison disease,"[Autoimmune Addison disease, Autoimmune adrenalitis, Classic Addison disease, Primary Addison disease]","A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).","[240200, 103230]",,,,,Addison's disease,TRUE,FALSE,Active +GARD:5741,Legacy,GARD,,,,,,,,,,,,Adenocarcinoid tumor,TRUE,FALSE,Active +GARD:5742,Legacy,GARD,,,,,,,,,,,,Lung adenocarcinoma,TRUE,FALSE,Active +GARD:5743,Legacy,GARD,,,,,,,,,,,,Adenoid cystic carcinoma,TRUE,FALSE,Active +GARD:5745,Legacy,GARD,,,,,,,,,,,,Adenoma of the adrenal gland,TRUE,FALSE,Active +GARD:5747,Active,Orphanet,ORPHA:314419,Disorder,[Disease],Ameloblastoma,,"A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.",,,,,,Ameloblastoma,TRUE,FALSE,Active +GARD:5748,Active,Orphanet,ORPHA:277,Disorder,[Disease],Severe combined immunodeficiency due to adenosine deaminase deficiency,"[ADA deficiency, SCID due to adenosine deaminase deficiency]",Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.,[102700],,,,,Adenosine deaminase deficiency,TRUE,FALSE,Active +GARD:5749,Active,Orphanet,ORPHA:454718,Disorder,[Disease],Holmes-Adie syndrome,"[Adie syndrome, Tonic pupil-tendon areflexia syndrome]","A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.",[103100],,,,,Adie syndrome,TRUE,FALSE,Active +GARD:575,Active,Orphanet,ORPHA:51,Disorder,[Disease],Aicardi-Goutières syndrome,"[Encephalopathy with basal ganglia calcification, Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid]","An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.","[610333, 610181, 225750, 114100, 612952, 615010, 615846, 610329]",,,,,Aicardi-Goutieres syndrome,TRUE,FALSE,Active +GARD:5750,Active,Orphanet,ORPHA:36397,Disorder,[Disease],Adiposis dolorosa,"[Adiposalgia, Adipose tissue rheumatism, Dercum disease, Lipomatosis dolorosa]","A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.",[103200],,,,,Adiposis dolorosa,TRUE,FALSE,Active +GARD:5751,Legacy,GARD,,,,,,,,,,,,Adrenal cancer,TRUE,FALSE,Active +GARD:5755,Legacy,GARD,,,,,,,,,,,,Adrenal medulla cancer,TRUE,FALSE,Active +GARD:5757,Legacy,GARD,,,,,,,,,,,,21-hydroxylase deficiency,TRUE,FALSE,Active +GARD:5758,Active,Orphanet,ORPHA:43,Disorder,[Disease],X-linked adrenoleukodystrophy,"[ALD, X-ALD, X-linked ALD]","A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.","[300100, 302700]",,,,,X-linked adrenoleukodystrophy ,TRUE,FALSE,Active +GARD:5761,Active,Orphanet,ORPHA:98880,Subtype of disorder,[Clinical subtype],Familial afibrinogenemia,,Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.,[202400],,,,,Afibrinogenemia,TRUE,FALSE,Active +GARD:5763,Legacy,GARD,,,,,,,,,,,,Ahumada Del Castillo syndrome,TRUE,FALSE,Active +GARD:5764,Active,Orphanet,ORPHA:50,Disorder,[Disease],Aicardi syndrome,[Agenesis of corpus callosum with chorioretinal abnormality],"A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.",[304050],,,,,Aicardi syndrome,TRUE,FALSE,Active +GARD:5765,Legacy,GARD,,,,,,,,,,,,AIDS dysmorphic syndrome,TRUE,FALSE,Active +GARD:5768,Legacy,GARD,,,,,,,,,,,,Albinism,TRUE,FALSE,Active +GARD:577,Legacy,GARD,,,,,,,,,,,,Akaba Hayasaka syndrome,TRUE,FALSE,Active +GARD:5770,Active,Orphanet,ORPHA:457059,Group of disorders,[Clinical group],Pseudohypoparathyroidism with Albright hereditary osteodystrophy,,,,,,,,Albright's hereditary osteodystrophy,TRUE,FALSE,Active +GARD:5774,Active,Orphanet,ORPHA:58,Disorder,[Disease],Alexander disease,[AxD],"A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.",[203450],,,,,Alexander disease,TRUE,FALSE,Active +GARD:5775,Active,Orphanet,ORPHA:56,Disorder,[Disease],Alkaptonuria,"[Hereditary ochronosis, Homogentisic acid oxidase deficiency]","A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).",[203500],,,,,Alkaptonuria,TRUE,FALSE,Active +GARD:5776,Legacy,GARD,,,,,,,,,,,,Allergic angiitis,TRUE,FALSE,Active +GARD:5777,Legacy,GARD,,,,,,,,,,,,Allergic autoimmune thyroiditis,TRUE,FALSE,Retired +GARD:5779,Legacy,GARD,,,,,,,,,,,,Allergic encephalomyelitis,TRUE,FALSE,Active +GARD:578,Legacy,GARD,,,,,,,,,,,,Akesson syndrome,TRUE,FALSE,Active +GARD:5782,Legacy,GARD,,,,,,,,,,,,Alopecia areata,FALSE,FALSE,Active +GARD:5783,Active,Orphanet,ORPHA:726,Disorder,[Disease],Alpers-Huttenlocher syndrome,"[Alpers progressive sclerosing poliodystrophy, Alpers syndrome, Progressive neuronal degeneration of childhood with liver disease]","A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.",[203700],,,,,Alpers syndrome,TRUE,FALSE,Active +GARD:5784,Active,Orphanet,ORPHA:60,Disorder,[Disease],Alpha-1-antitrypsin deficiency,"[Alpha-1-proteinase inhibitor deficiency, Alpha1-antitrypsin deficiency]","A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.",[613490],,,,,Alpha-1 antitrypsin deficiency,TRUE,FALSE,Active +GARD:5785,Active,Orphanet,ORPHA:63,Disorder,[Disease],Alport syndrome,"[Alport deafness-nephropathy, Alport hearing loss-nephropathy]","A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.","[301050, 104200, 203780]",,,,,Alport syndrome,TRUE,FALSE,Active +GARD:5786,Active,Orphanet,ORPHA:803,Disorder,[Disease],Amyotrophic lateral sclerosis,"[ALS, Charcot disease, Lou Gehrig disease]","A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.","[615426, 205250, 606070, 105400, 615515, 608030, 613954, 616437, 608031, 608627, 600795, 617839, 611895, 300857, 612069, 612577, 619133, 617892, 606640, 613435, 619141, 614808, 616208]",,,,,Amyotrophic lateral sclerosis,TRUE,FALSE,Active +GARD:5787,Active,Orphanet,ORPHA:64,Disorder,[Disease],Alström syndrome,,"A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.",[203800],,,,,Alström syndrome,TRUE,FALSE,Active +GARD:579,Legacy,GARD,,,,,,,,,,,,Aksu von Stockhausen syndrome,TRUE,FALSE,Active +GARD:5791,Active,Orphanet,ORPHA:88661,Disorder,[Disease],Amelogenesis imperfecta,,"A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.","[612529, 130900, 614832, 616270, 204700, 104500, 104530, 204650, 616221, 615887, 617217, 104510, 301200, 613211, 301201]",,,,,Amelogenesis imperfecta,TRUE,FALSE,Active +GARD:5793,Legacy,GARD,,,,,,,,,,,,Aminoacidopathies,FALSE,FALSE,Active +GARD:5794,Legacy,GARD,,,,,,,,,,,,Aminoaciduria,TRUE,FALSE,Active +GARD:5797,Active,Orphanet,ORPHA:85443,Disorder,[Disease],AL amyloidosis,"[Light-chain amyloidosis, Primary amyloidosis]","A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.",[254500],,,,,AL amyloidosis,TRUE,FALSE,Active +GARD:5798,Legacy,GARD,,,,,,,,,,,,Amyotonia congenita,TRUE,FALSE,Active +GARD:5802,Active,Orphanet,ORPHA:90652,Disorder,[Malformation syndrome],Otopalatodigital syndrome type 2,"[OPD II syndrome, OPD syndrome 2]","A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.",[304120],,,,,Oto-palato-digital syndrome type 2,TRUE,FALSE,Active +GARD:5803,Active,Orphanet,ORPHA:754,Group of disorders,[Clinical group],Androgen insensitivity syndrome,"[AIS, Androgen resistance syndrome, Goldberg-Maxwell syndrome, Morris syndrome, Testicular feminization syndrome]","A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).",,,,,,Androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:5808,Active,Orphanet,ORPHA:1048,Disorder,[Morphological anomaly],Isolated anencephaly/exencephaly,,"A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.",[206500],,,,,Anencephaly,TRUE,FALSE,Active +GARD:581,Legacy,GARD,,,,,,,,,,,,Asrar Facharzt Haque syndrome,TRUE,FALSE,Active +GARD:5810,Active,Orphanet,ORPHA:72,Disorder,[Malformation syndrome],Angelman syndrome,,A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.,[105830],,,,,Angelman syndrome,TRUE,FALSE,Active +GARD:5811,Legacy,GARD,,,,,,,,,,,,Angioimmunoblastic lymphadenopathy with dysproteinemia,TRUE,FALSE,Active +GARD:5813,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the liver,TRUE,FALSE,Active +GARD:5814,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the scalp,TRUE,FALSE,Active +GARD:5816,Active,Orphanet,ORPHA:250923,Disorder,[Morphological anomaly],Isolated aniridia,,Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.,"[617141, 106210, 617142]",,,,,Aniridia,TRUE,FALSE,Active +GARD:5818,Active,Orphanet,ORPHA:99797,Disorder,[Morphological anomaly],Anodontia,,An extreme developmental dental anomaly characterized by the complete absence of all teeth.,[206780],,,,,Anodontia,TRUE,FALSE,Active +GARD:5819,Active,Orphanet,ORPHA:325124,Disorder,[Morphological anomaly],Testicular agenesis,[Bilateral anorchia],"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.",,,,,,Anorchia,TRUE,FALSE,Active +GARD:5824,Active,Orphanet,ORPHA:80,Disorder,[Disease],Antiphospholipid syndrome,"[APLS, Antiphospholipid antibody syndrome, Classic APLS, Classic antiphospholipid syndrome, Hughes syndrome]",,,,,,,Antiphospholipid syndrome,TRUE,FALSE,Active +GARD:5826,Active,Orphanet,ORPHA:83,Disorder,[Malformation syndrome],Antley-Bixler syndrome,,"A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.",[207410],,,,,Antley Bixler syndrome,TRUE,FALSE,Active +GARD:5828,Active,Orphanet,ORPHA:1457,Disorder,[Morphological anomaly],Aorta coarctation,,,[120000],,,,,Aortic coarctation,TRUE,FALSE,Active +GARD:583,Active,Orphanet,ORPHA:2865,Disorder,[Malformation syndrome],Short stature-webbed neck-heart disease syndrome,[Al Gazali-Aziz-Salem syndrome],"Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.",,,,,,Al Gazali Aziz Salem syndrome,TRUE,FALSE,Active +GARD:5830,Legacy,GARD,,,,,,,,,,,,Aortic valve stenosis,TRUE,FALSE,Active +GARD:5833,Active,Orphanet,ORPHA:87,Disorder,[Malformation syndrome],Apert syndrome,"[ACS1, Acrocephalosyndactyly type 1]","A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.",[101200],,,,,Apert syndrome,TRUE,FALSE,Active +GARD:5834,Legacy,GARD,,,,,,,,,,,,Aphthous stomatitis,TRUE,FALSE,Active +GARD:5835,Active,Orphanet,ORPHA:1114,Disorder,[Malformation syndrome],Aplasia cutis congenita,,"A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.","[600360, 107600]",,,,,Aplasia cutis congenita,TRUE,FALSE,Active +GARD:5836,Active,Orphanet,ORPHA:88,Disorder,[Disease],Idiopathic aplastic anemia,[Idiopathic bone marrow failure],,"[614742, 609135, 614743]",,,,,Aplastic anemia,TRUE,FALSE,Active +GARD:5838,Legacy,GARD,,,,,,,,,,,,Apraxia,TRUE,FALSE,Active +GARD:5839,Active,Orphanet,ORPHA:137817,Disorder,[Disease],Arachnoiditis,"[Adhesive arachnoiditis, Chronic arachnoiditis]","A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.",[182950],,,,,Arachnoiditis,TRUE,FALSE,Active +GARD:584,Active,Orphanet,ORPHA:2153,Disorder,[Malformation syndrome],Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,[Al Gazali-Donnai-Muller syndrome],"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.",[235760],,,,,Al-Gazali-Donnai-Mueller syndrome,TRUE,FALSE,Active +GARD:5840,Active,Orphanet,ORPHA:90,Disorder,[Disease],Argininemia,"[Arginase deficiency, Hyperargininemia]","A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.",[207800],,,,,Arginase deficiency,TRUE,FALSE,Active +GARD:5843,Active,Orphanet,ORPHA:23,Disorder,[Disease],Argininosuccinic aciduria,"[ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, Argininosuccinic acid lyase deficiency]","A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.",[207900],,,,,Argininosuccinic aciduria,TRUE,FALSE,Active +GARD:5845,Legacy,GARD,,,,,,,,,,,,Chiari malformation,FALSE,FALSE,Active +GARD:5847,Active,Orphanet,ORPHA:247,Group of disorders,[Clinical group],Arrhythmogenic right ventricular cardiomyopathy,"[ARVC, ARVD, Arrhythmogenic right ventricular dysplasia]","A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.",,,,,,Arrhythmogenic right ventricular cardiomyopathy,TRUE,FALSE,Active +GARD:5852,Active,Orphanet,ORPHA:2302,Disorder,[Disease],Asbestos intoxication,[Asbestosis],"A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.",,,,,,Asbestosis,TRUE,FALSE,Active +GARD:5853,Active,Orphanet,ORPHA:137686,Disorder,[Disease],Asherman syndrome,,"A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss).",,,,,,Asherman's syndrome,TRUE,FALSE,Active +GARD:5854,Active,Orphanet,ORPHA:93,Disorder,[Disease],Aspartylglucosaminuria,[Aspartylglucosaminidase deficiency],An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).,[208400],,,,,Aspartylglycosaminuria,TRUE,FALSE,Active +GARD:5855,Legacy,GARD,,,,,,,,,,,,Asperger syndrome,FALSE,FALSE,Active +GARD:5856,Active,Orphanet,ORPHA:1163,Disorder,[Disease],Aspergillosis,,"A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.",[614079],,,,,Aspergillosis,TRUE,FALSE,Active +GARD:5857,Legacy,GARD,,,,,,,,,,,,Asphyxia neonatorum,TRUE,FALSE,Active +GARD:586,Legacy,GARD,,,,,,,,,,,,Al Gazali Khidr Prem Chandran syndrome,TRUE,FALSE,Active +GARD:5860,Active,Orphanet,ORPHA:251589,Disorder,[Disease],Anaplastic astrocytoma,,"A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.",,,,,,Anaplastic astrocytoma,TRUE,FALSE,Active +GARD:5862,Active,Orphanet,ORPHA:100,Disorder,[Disease],Ataxia-telangiectasia,[Louis-Bar syndrome],"A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.","[208900, 208910]",,,,,Ataxia telangiectasia,TRUE,FALSE,Active +GARD:5863,Legacy,GARD,,,,,,,,,,,,Athetosis,TRUE,FALSE,Active +GARD:5864,Active,Orphanet,ORPHA:847,Disorder,[Malformation syndrome],Alpha-thalassemia-X-linked intellectual disability syndrome,[ATR-X syndrome],"A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.","[309580, 301040]",,,,,Alpha-thalassemia x-linked intellectual disability syndrome,TRUE,FALSE,Active +GARD:5865,Active,Orphanet,ORPHA:99103,Subtype of disorder,[Clinical subtype],"Atrial septal defect, ostium secundum type","[ASD, ostium secundum type]",,"[614430, 611363, 614089]",,,,,Ostium secundum atrial septal defect,TRUE,FALSE,Active +GARD:5866,Legacy,GARD,,,,,,,,,,,,Atrophoderma of Pasini and Pierini,TRUE,FALSE,Active +GARD:5867,Active,Orphanet,ORPHA:79088,Group of disorders,[Clinical group],Localized lipodystrophy,,"A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.",,,,,,Localized lipodystrophy,TRUE,FALSE,Active +GARD:587,Active,Orphanet,ORPHA:2773,Disorder,[Malformation syndrome],Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,[Al Gazali-Nair syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.",,,,,,Al Gazali Sabrinathan Nair syndrome,TRUE,FALSE,Active +GARD:5870,Active,Orphanet,ORPHA:98375,Group of disorders,[Clinical group],Autoimmune hemolytic anemia,"[AHA, AIHA]","A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.",,,,,,Autoimmune hemolytic anemia,TRUE,FALSE,Active +GARD:5871,Active,Orphanet,ORPHA:2137,Disorder,[Disease],Autoimmune hepatitis,[AIH],"A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.",,,,,,Autoimmune hepatitis,TRUE,FALSE,Active +GARD:5877,Legacy,GARD,,,,,,,,,,,,B-cell lymphoma,TRUE,FALSE,Active +GARD:5878,Active,Orphanet,ORPHA:108,Disorder,[Disease],Babesiosis,,Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.,,,,,,Babesiosis,TRUE,FALSE,Active +GARD:588,Active,Orphanet,ORPHA:2007,Disorder,[Malformation syndrome],Alar cartilages hypoplasia-coloboma-telecanthus syndrome,,A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.,[203000],,,,,Coloboma of alar-nasal cartilages with telecanthus,TRUE,FALSE,Active +GARD:5881,Legacy,GARD,,,,,,,,,,,,Bacterial meningitis,TRUE,FALSE,Active +GARD:5885,Active,Orphanet,ORPHA:228165,Disorder,[Disease],Baló concentric sclerosis,[Concentric demyelination],"A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.",,,,,,Tumefactive multiple sclerosis,TRUE,FALSE,Active +GARD:5887,Active,Orphanet,ORPHA:109,Disorder,[Malformation syndrome],Bannayan-Riley-Ruvalcaba syndrome,"[BRRS, Myhre-Riley-Smith syndrome]","A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.",[158350],,,,,Bannayan-Riley-Ruvalcaba syndrome,TRUE,FALSE,Active +GARD:5888,Legacy,GARD,,,,,,,,,,,,Banti's syndrome,TRUE,FALSE,Active +GARD:589,Active,Orphanet,ORPHA:998,Disorder,[Malformation syndrome],Albinism-deafness syndrome,[Albinism-hearing loss syndrome],"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.",[300700],,,,,Albinism deafness syndrome,TRUE,FALSE,Active +GARD:5890,Active,Orphanet,ORPHA:111,Disorder,[Disease],Barth syndrome,"[3-methylglutaconic aciduria type 2, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, Cardioskeletal myopathy-neutropenia syndrome, MGA2, X-linked cardioskeletal myopathy and neutropenia]","Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.",[302060],,,,,Barth syndrome,TRUE,FALSE,Active +GARD:5893,Active,Orphanet,ORPHA:112,Disorder,[Disease],Bartter syndrome,"[Renal tubular normotensive hypokalemic alkalosis with hypercalciuria, Salt-losing tubular disorder, Henle's loop type, Salt-wasting tubulopathy, Henle's loop type]","Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.","[602522, 607364, 601198, 300971, 601678, 613090, 241200]",,,,,Bartter syndrome,TRUE,FALSE,Active +GARD:5896,Legacy,GARD,,,,,,,,,,,,Migraine with brainstem aura,TRUE,FALSE,Active +GARD:5897,Active,Orphanet,ORPHA:228346,Subtype of disorder,[Etiological subtype],CLN3 disease,"[Classic juvenile NCL, Classic juvenile neuronal ceroid lipofuscinosis]",,[204200],,,,,Neuronal ceroid lipofuscinosis 3,TRUE,FALSE,Active +GARD:5898,Active,Orphanet,ORPHA:97245,Group of disorders,[Category],Congenital myopathy,,,,,,,,Myopathy congenital,TRUE,FALSE,Active +GARD:5899,Active,Orphanet,ORPHA:115,Disorder,[Malformation syndrome],Congenital contractural arachnodactyly,"[Beals syndrome, Beals-Hecht syndrome, CCA syndrome, Distal arthrogryposis type 9]","Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.",[121050],,,,,Congenital contractural arachnodactyly,TRUE,FALSE,Active +GARD:59,Active,Orphanet,ORPHA:1955,Disorder,[Disease],Spinocerebellar ataxia type 34,"[Erythrokeratodermia with ataxia, SCA34, Spinocerebellar ataxia and erythrokeratodermia]","An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.",[133190],,,,,Spinocerebellar ataxia 34,TRUE,FALSE,Active +GARD:590,Legacy,GARD,,,,,,,,,,,,Albinism immunodeficiency,TRUE,FALSE,Retired +GARD:5900,Active,Orphanet,ORPHA:98895,Disorder,[Disease],Becker muscular dystrophy,"[BMD, Becker dystrophinopathy]","A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.","[300376, 159050]",,,,,Becker muscular dystrophy,TRUE,FALSE,Active +GARD:5901,Legacy,GARD,,,,,,,,,,,,Becker's nevus,TRUE,FALSE,Active +GARD:5905,Legacy,GARD,,,,,,,,,,,,Bejel,TRUE,FALSE,Active +GARD:5906,Legacy,GARD,,,,,,,,,,,,Bell's palsy,TRUE,FALSE,Active +GARD:5907,Active,Orphanet,ORPHA:251595,Disorder,[Disease],Diffuse astrocytoma,,"A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.",,,,,,Diffuse astrocytoma,TRUE,FALSE,Active +GARD:5909,Legacy,GARD,,,,,,,,,,,,Benign essential blepharospasm,TRUE,FALSE,Active +GARD:5910,Legacy,GARD,,,,,,,,,,,,Essential tremor,FALSE,FALSE,Active +GARD:5911,Legacy,GARD,,,,,,,,,,,,Thin basement membrane nephropathy,FALSE,FALSE,Active +GARD:5913,Active,Orphanet,ORPHA:46486,Disorder,[Disease],Mucous membrane pemphigoid,"[Cicatricial pemphigoid, Mucosal pemphigoid, Mucosynechial pemphigoid]","A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.",[164185],,,,,Mucous membrane pemphigoid,TRUE,FALSE,Active +GARD:5915,Legacy,GARD,,,,,,,,,,,,Benign paroxysmal positional vertigo,TRUE,FALSE,Active +GARD:5918,Legacy,GARD,,,,,,,,,,,,Beta-galactosidase-1 deficiency,TRUE,FALSE,Active +GARD:592,Active,Orphanet,ORPHA:1000,Disorder,[Disease],Ocular albinism with late-onset sensorineural deafness,[Ocular albinism with late-onset sensorineural hearing loss],"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.",[300650],,,,,Albinism ocular late onset sensorineural deafness,TRUE,FALSE,Active +GARD:5921,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 4,TRUE,FALSE,Retired +GARD:5924,Legacy,GARD,,,,,,,,,,,,Biliary tract cancer,TRUE,FALSE,Active +GARD:5925,Legacy,GARD,,,,,,,,,,,,Binswanger's disease,TRUE,FALSE,Active +GARD:5926,Active,Orphanet,ORPHA:179,Disorder,[Disease],Birdshot chorioretinopathy,"[Birdshot chorioretinitis, Birdshot retinochoroiditis, Birdshot retinochoroidopathy, Vitiliginous choroiditis]","Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.",[605808],,,,,Birdshot chorioretinopathy,TRUE,FALSE,Active +GARD:5930,Legacy,GARD,,,,,,,,,,,,Blastoma,TRUE,FALSE,Retired +GARD:5931,Legacy,GARD,,,,,,,,,,,,Blastomycosis,TRUE,FALSE,Active +GARD:5932,Legacy,GARD,,,,,,,,,,,,Blepharophimosis,TRUE,FALSE,Active +GARD:5939,Active,Orphanet,ORPHA:94086,Disorder,[Disease],Blue diaper syndrome,"[Drummond syndrome, Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome]",Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.,[211000],,,,,Blue diaper syndrome,TRUE,FALSE,Active +GARD:594,Active,Orphanet,ORPHA:79434,Subtype of disorder,[Clinical subtype],Oculocutaneous albinism type 1B,"[OCA1B, Oculocutaneous albinism, Amish type, Platinum oculocutaneous albinism, Yellow oculocutaneous albinism]","A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.",[606952],,,,,Oculocutaneous albinism type 1B,TRUE,FALSE,Active +GARD:5940,Active,Orphanet,ORPHA:1059,Disorder,[Malformation syndrome],Blue rubber bleb nevus,"[BRBN, Bean syndrome]","A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.",[112200],,,,,Blue rubber bleb nevus syndrome,TRUE,FALSE,Active +GARD:5943,Legacy,GARD,,,,,,,,,,,,Bone cancer,FALSE,FALSE,Draft +GARD:5948,Legacy,GARD,,,,,,,,,,,,Bowen's disease,TRUE,FALSE,Active +GARD:5950,Active,Orphanet,ORPHA:1270,Disorder,[Malformation syndrome],Bowen-Conradi syndrome,"[Bowen syndrome, Hutterite type]","A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.",[211180],,,,,Bowen-Conradi syndrome,TRUE,FALSE,Active +GARD:5951,Legacy,GARD,,,,,,,,,,,,Bowenoid papulosis,TRUE,FALSE,Active +GARD:596,Legacy,GARD,,,,,,,,,,,,Albright like syndrome,TRUE,FALSE,Active +GARD:5961,Active,Orphanet,ORPHA:1303,Disorder,[Disease],Bronchiolitis obliterans with obstructive pulmonary disease,"[Constrictive bronchiolitis, Obliterative bronchiolitis]",A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.,,,,,,Bronchiolitis obliterans organizing pneumonia,TRUE,FALSE,Active +GARD:5962,Active,Orphanet,ORPHA:70589,Disorder,[Malformation syndrome],Bronchopulmonary dysplasia,[BPD],"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.",,,,,,Bronchopulmonary dysplasia,TRUE,FALSE,Active +GARD:5963,Legacy,GARD,,,,,,,,,,,,Brown syndrome,TRUE,FALSE,Active +GARD:5964,Legacy,GARD,,,,,,,,,,,,Brown-Sequard syndrome,TRUE,FALSE,Active +GARD:5966,Active,Orphanet,ORPHA:1304,Disorder,[Disease],Brucellosis,,"Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.",,,,,,Brucellosis,TRUE,FALSE,Active +GARD:5968,Active,Orphanet,ORPHA:131,Disorder,[Disease],Budd-Chiari syndrome,,A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.,[600880],,,,,Budd-Chiari syndrome,TRUE,FALSE,Active +GARD:5969,Active,Orphanet,ORPHA:36258,Disorder,[Disease],Buerger disease,[Thromboangiitis obliterans],"A rare inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease characterized by thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.",[211480],,,,,Buerger disease,TRUE,FALSE,Active +GARD:5972,Active,Orphanet,ORPHA:703,Disorder,[Disease],Bullous pemphigoid,,"A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.",,,,,,Bullous pemphigoid,TRUE,FALSE,Active +GARD:5973,Active,Orphanet,ORPHA:543,Disorder,[Disease],Burkitt lymphoma,[Small non-cleaved cell lymphoma],Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.,[113970],,,,,Burkitt lymphoma,TRUE,FALSE,Active +GARD:5974,Active,Orphanet,ORPHA:353253,Disorder,[Disease],Burning mouth syndrome,"[BMS, Oral dysesthesia, Orodynia, Stomatodynia, Stomatopyrosis]","A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.",,,,,,Burning mouth syndrome,FALSE,FALSE,Active +GARD:5975,Active,Orphanet,ORPHA:352763,Disorder,[Disease],Scleredema,[Buschke scleredema],"A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.",,,,,,Scleredema,TRUE,FALSE,Active +GARD:5976,Legacy,GARD,,,,,,,,,,,,Byssinosis,TRUE,FALSE,Active +GARD:5978,Active,Orphanet,ORPHA:1308,Disorder,[Malformation syndrome],C syndrome,"[OTCS, Opitz C trigonocephaly, Opitz trigonocephaly C syndrome, Opitz trigonocephaly syndrome, Trigonocephaly C syndrome]","C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.",[211750],,,,,C syndrome,TRUE,FALSE,Active +GARD:5979,Active,Orphanet,ORPHA:91378,Group of disorders,[Clinical group],Hereditary angioedema,"[Familial angioneurotic edema, HAE, Hereditary angioneurotic edema, Hereditary bradykinine-induced angioedema, Hereditary non histamine-induced angioedema]",Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.,"[106100, 610618]",,,,,Hereditary angioedema,TRUE,FALSE,Active +GARD:5980,Active,Orphanet,ORPHA:280062,Disorder,[Disease],Calciphylaxis,,A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.,,,,,,Calciphylaxis,TRUE,FALSE,Active +GARD:5984,Active,Orphanet,ORPHA:141,Disorder,[Disease],Canavan disease,"[ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, Spongy degeneration of the brain]","Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.",[271900],,,,,Canavan disease,TRUE,FALSE,Active +GARD:599,Active,Orphanet,ORPHA:1915,Disorder,[Malformation syndrome],Fetal alcohol syndrome,"[ARBD, ARND, Alcohol-related birth defects, Alcohol-related neurodevelopmental disorder, FAS, FASD, Fetal alcohol spectrum disorders]","Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).",,,,,,Fetal Alcohol Spectrum Disorders,FALSE,FALSE,Active +GARD:5993,Active,Orphanet+OMIM,OMIM:611490,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 4","[Osteopetrosis, infantile malignant 2]",,[611490],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 4,TRUE,FALSE,Active +GARD:5994,Active,Orphanet,ORPHA:100093,Disorder,[Clinical syndrome],Carcinoid syndrome,[Malignant carcinoid syndrome],"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.",,,,,,Carcinoid syndrome,TRUE,FALSE,Active +GARD:5996,Legacy,GARD,,,,,,,,,,,,Carcinoma of the vocal tract,TRUE,FALSE,Active +GARD:5999,Legacy,GARD,,,,,,,,,,,,Cardiospasm,TRUE,FALSE,Active +GARD:6,Active,Orphanet,ORPHA:93437,Group of disorders,[Clinical group],Acromesomelic dysplasia,,,,,,,,Acromesomelic dysplasia,TRUE,FALSE,Active +GARD:60,Active,Orphanet,ORPHA:64734,Disorder,[Disease],Iridocorneal endothelial syndrome,[ICE syndrome],"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications",,,,,,Iridocorneal endothelial syndrome,TRUE,FALSE,Active +GARD:600,Active,Orphanet,ORPHA:57,Disorder,[Disease],Glycogen storage disease due to aldolase A deficiency,"[GSD due to aldolase A deficiency, GSD type 12, GSD type XII, Glycogen storage disease type 12, Glycogen storage disease type XII, Glycogenosis due to aldolase A deficiency, Glycogenosis type 12, Glycogenosis type XII]",Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.,[611881],,,,,Glycogen storage disease type 12,TRUE,FALSE,Active +GARD:6001,Active,Orphanet,ORPHA:1361,Disorder,[Biological anomaly],Carnosinase deficiency,,"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.",[212200],,,,,Carnosinemia,TRUE,FALSE,Active +GARD:6002,Active,Orphanet,ORPHA:53035,Disorder,[Malformation syndrome],Caroli disease,,Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.,[600643],,,,,Caroli disease,TRUE,FALSE,Active +GARD:6003,Active,Orphanet,ORPHA:65759,Disorder,[Malformation syndrome],Carpenter syndrome,"[ACPS2, Acrocephalopolysyndactyly type 2]","A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.","[201000, 614976]",,,,,Carpenter syndrome,TRUE,FALSE,Active +GARD:6004,Legacy,GARD,,,,,,,,,,,,Cartilaginous cancer,TRUE,FALSE,Active +GARD:6005,Active,Orphanet,ORPHA:93685,Subtype of disorder,[Clinical subtype],Unicentric Castleman disease,[Localized Castleman disease],A form of Castleman disease that is usually asymptomatic or that may present with enlarged lymph nodes.,,,,,,Unicentric Castleman disease,TRUE,FALSE,Active +GARD:6007,Active,Orphanet,ORPHA:3027,Disorder,[Malformation syndrome],Caudal regression syndrome,"[Caudal dysgenesis syndrome, Caudal dysplasia, Caudal regression sequence]","A rare congenital malformation of the lower spinal segments characterized by either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.",[600145],,,,,Caudal regression sequence,TRUE,FALSE,Active +GARD:6010,Active,Orphanet,ORPHA:79489,Disorder,[Malformation syndrome],Macrocystic lymphatic malformation,"[Cavernous lymphangioma, Cavernous lymphatic malformation, Macrocystic lymphangioma]","A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,Cavernous lymphangioma,TRUE,FALSE,Active +GARD:6011,Active,Orphanet,ORPHA:98889,Subtype of disorder,[Clinical subtype],Bilateral perisylvian polymicrogyria,,,"[615752, 616531, 300388]",,,,,Bilateral perisylvian polymicrogyria,TRUE,FALSE,Active +GARD:6014,Active,Orphanet,ORPHA:597,Disorder,[Disease],Central core disease,,Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.,[117000],,,,,Central core disease,TRUE,FALSE,Active +GARD:6015,Active,Orphanet,ORPHA:178029,Disorder,[Disease],Central diabetes insipidus,"[CDI, Neurogenic diabetes insipidus]",Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).,"[125700, 304900]",,,,,Central diabetes insipidus,TRUE,FALSE,Active +GARD:6019,Legacy,GARD,,,,,,,,,,,,Cerebellar degeneration,TRUE,FALSE,Active +GARD:602,Active,Orphanet,ORPHA:1164,Disorder,[Disease],Allergic bronchopulmonary aspergillosis,"[ABPA, Allergic aspergillosis, Hinson-Pepys disease]","A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.",[103920],,,,,Allergic bronchopulmonary aspergillosis,TRUE,FALSE,Active +GARD:6025,Legacy,GARD,,,,,,,,,,,,Cerebral ventricle cancer,TRUE,FALSE,Active +GARD:6026,Active,Orphanet,ORPHA:1393,Disorder,[Malformation syndrome],Cerebrocostomandibular syndrome,,"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.",[117650],,,,,Cerebro-costo-mandibular syndrome,TRUE,FALSE,Active +GARD:6027,Active,Orphanet,ORPHA:1466,Subtype of disorder,[Clinical subtype],COFS syndrome,"[Cerebrooculofacioskeletal syndrome, Pena-Shokeir syndrome type 2]","Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.","[610758, 214150, 610756, 616570, 278780]",,,,,Cerebro-oculo-facio-skeletal syndrome,TRUE,FALSE,Active +GARD:6030,Legacy,GARD,,,,,,,,,,,,Chagas disease,FALSE,FALSE,Active +GARD:6033,Active,Orphanet,ORPHA:98979,Subtype of disorder,[Clinical subtype],Chandler syndrome,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.",,,,,,Chandler's syndrome,TRUE,FALSE,Active +GARD:6034,Active,Orphanet,ORPHA:166,Group of disorders,[Category],Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,"[CMT/HMSN, Charcot-Marie-Tooth hereditary neuropathy]",,,,,,,Charcot-Marie-Tooth disease,TRUE,FALSE,Active +GARD:6035,Active,Orphanet,ORPHA:167,Disorder,[Disease],Chédiak-Higashi syndrome,"[Chédiak-Higashi disease, Chédiak-Higashi-Steinbrink syndrome]","Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.",[214500],,,,,Chediak-Higashi syndrome,TRUE,FALSE,Active +GARD:6036,Active,Orphanet,ORPHA:184,Disorder,[Malformation syndrome],Cherubism,[CRBM],"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.",[118400],,,,,Cherubism,TRUE,FALSE,Active +GARD:6037,Legacy,GARD,,,,,,,,,,,,Chiari-Frommel syndrome,TRUE,FALSE,Active +GARD:6038,Active,Orphanet,ORPHA:324625,Disorder,[Disease],Chikungunya,,"A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.",,,,,,Chikungunya,TRUE,FALSE,Active +GARD:6039,Active,Orphanet,ORPHA:139,Disorder,[Disease],CHILD syndrome,"[CHILD nevus, Congenital hemidysplasia with ichthyosiform nevus and limbs defects]","CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.",[308050],,,,,CHILD syndrome,TRUE,FALSE,Active +GARD:604,Active,Orphanet,ORPHA:1010,Disorder,[Disease],Autosomal dominant palmoplantar keratoderma and congenital alopecia,"[Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, PPK-CA, Stevanovic type, Palmoplantar keratoderma and congenital alopecia, Stevanovic type]","A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.",[104100],,,,,Autosomal dominant palmoplantar keratoderma and congenital alopecia,TRUE,FALSE,Active +GARD:6040,Active,Orphanet,ORPHA:168782,Disorder,[Disease],Childhood disintegrative disorder,"[Dementia infantilis, Heller syndrome]","Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.",,,,,,Childhood disintegrative disorder,TRUE,FALSE,Active +GARD:6042,Legacy,GARD,,,,,,,,,,,,Intrahepatic cholangiocarcinoma,TRUE,FALSE,Active +GARD:6043,Active,Orphanet,ORPHA:173,Disorder,[Disease],Cholera,,"Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.",,,,,,Cholera,TRUE,FALSE,Active +GARD:6047,Legacy,GARD,,,,,,,,,,,,Chondroblastoma,TRUE,FALSE,Active +GARD:6048,Active,Orphanet+OMIM,OMIM:600668,Subtype of disorder,[Disease subtype],Chondrocalcinosis 1,,"For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 ({118600}).",[600668],[1416],[Familial calcium pyrophosphate deposition],[1292],,Chondrocalcinosis 1,TRUE,FALSE,Active +GARD:6049,Active,Orphanet,ORPHA:309789,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 1,,,[215100],,,,,Rhizomelic chondrodysplasia punctata type 1,TRUE,FALSE,Active +GARD:605,Active,Orphanet,ORPHA:1005,Disorder,[Malformation syndrome],Alopecia-contractures-dwarfism-intellectual disability syndrome,[ACD-intellectual disability syndrome],"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.",[203550],,,,,Alopecia-contractures-dwarfism-intellectual disability syndrome,TRUE,FALSE,Active +GARD:6050,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia punctata with steroid sulfatase deficiency,TRUE,FALSE,Active +GARD:6051,Legacy,GARD,,,,,,,,,,,,Chondrodystrophy,TRUE,FALSE,Active +GARD:6052,Legacy,GARD,,,,,,,,,,,,Chondroma,TRUE,FALSE,Active +GARD:6054,Legacy,GARD,,,,,,,,,,,,Synovial Chondromatosis,TRUE,FALSE,Active +GARD:6055,Active,Orphanet,ORPHA:55880,Disorder,[Disease],Chondrosarcoma,,"Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.",[215300],,,,,Chondrosarcoma,TRUE,FALSE,Active +GARD:6057,Legacy,GARD,,,,,,,,,,,,Chorea minor,TRUE,FALSE,Retired +GARD:6059,Legacy,GARD,,,,,,,,,,,,Choriocarcinoma,TRUE,FALSE,Active +GARD:606,Active,Orphanet,ORPHA:2574,Disorder,[Malformation syndrome],Moynahan syndrome,"[Alopecia-epilepsy-intellectual disability syndrome, Moynahan type]","A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.",[203600],,,,,Alopecia epilepsy oligophrenia syndrome of Moynahan,TRUE,FALSE,Active +GARD:6060,Legacy,GARD,,,,,,,,,,,,Chorioretinitis,TRUE,FALSE,Active +GARD:6061,Active,Orphanet,ORPHA:180,Disorder,[Disease],Choroideremia,"[CHM, Tapetochoroidal dystrophy]","Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.",[303100],,,,,Choroideremia,TRUE,FALSE,Active +GARD:6062,Legacy,GARD,,,,,,,,,,,,Choroiditis,TRUE,FALSE,Active +GARD:6064,Active,Orphanet,ORPHA:319303,Disorder,[Disease],Chromophobe renal cell carcinoma,[Chromophobe renal cell adenocarcinoma],"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.",,,,,,Chromophobe renal cell carcinoma,TRUE,FALSE,Active +GARD:6065,Legacy,GARD,,,,,,,,,,,,Chromosomal triplication,TRUE,FALSE,Active +GARD:6068,Legacy,GARD,,,,,,,,,,,,Chromosome 12p deletion,TRUE,FALSE,Active +GARD:6069,Active,Orphanet,ORPHA:96176,Disorder,[Malformation syndrome],Ring chromosome 13 syndrome,"[Ring 13, Ring chromosome 13]","A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.",,,,,,Ring chromosome 13,TRUE,FALSE,Active +GARD:607,Active,Orphanet,ORPHA:1008,Disorder,[Disease],Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,[Shokeir syndrome],"A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.",[104130],,,,,"Alopecia, epilepsy, pyorrhea, mental subnormality",TRUE,FALSE,Active +GARD:6072,Active,Orphanet,ORPHA:1440,Disorder,[Malformation syndrome],Ring chromosome 14 syndrome,"[Ring 14, Ring chromosome 14]","A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.",[616606],,,,,Ring chromosome 14,TRUE,FALSE,Active +GARD:6075,Legacy,GARD,,,,,,,,,,,,Chromosome 17p deletion,TRUE,FALSE,Active +GARD:6077,Active,Orphanet,ORPHA:1442,Disorder,[Malformation syndrome],Ring chromosome 18 syndrome,"[Ring 18, Ring chromosome 18]","Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.",,,,,,Ring chromosome 18,TRUE,FALSE,Active +GARD:608,Legacy,GARD,,,,,,,,,,,,"Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome",TRUE,FALSE,Retired +GARD:6082,Active,Orphanet,ORPHA:1606,Disorder,[Malformation syndrome],1p36 deletion syndrome,"[Del(1)(p36), Deletion 1p36, Deletion 1pter, Monosomy 1p36, Monosomy 1pter, Subtelomeric 1p36 deletion]","A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.","[616975, 607872]",,,,,Chromosome 1p36 deletion syndrome,TRUE,FALSE,Active +GARD:6083,Active,Orphanet,ORPHA:1445,Disorder,[Malformation syndrome],Ring chromosome 21 syndrome,,"Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.",,,,,,Ring chromosome 21,TRUE,FALSE,Active +GARD:6085,Active,Orphanet,ORPHA:96068,Disorder,[Malformation syndrome],Mosaic trisomy 22,"[Mosaic trisomy chromosome 22, Trisomy 22 mosaicism]","Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.",,,,,,Mosaic trisomy 22,TRUE,FALSE,Active +GARD:609,Legacy,GARD,,,,,,,,,,,,Alopecia immunodeficiency,TRUE,FALSE,Retired +GARD:6090,Legacy,GARD,,,,,,,,,,,,Chromosome 4p deletion,TRUE,FALSE,Active +GARD:6091,Active,Orphanet,ORPHA:1738,Disorder,[Malformation syndrome],Trisomy 4p,"[Duplication 4p, Duplication of the short arm of chromosome 4, Trisomy of the short arm of chromosome 4]","Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.",,,,,,Chromosome 4p duplication,TRUE,FALSE,Active +GARD:6093,Active,Orphanet,ORPHA:1742,Disorder,[Malformation syndrome],Trisomy 5p,"[Duplication 5p, Duplication of the short arm of chromosome 5, Trisomy of the short arm of chromosome 5]","Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.",,,,,,Chromosome 5p duplication,TRUE,FALSE,Active +GARD:6095,Active,Orphanet,ORPHA:1448,Disorder,[Malformation syndrome],Ring chromosome 6 syndrome,"[Ring 6, Ring chromosome 6]","Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.",,,,,,Ring chromosome 6,TRUE,FALSE,Active +GARD:6099,Legacy,GARD,,,,,,,,,,,,Chronic erosive gastritis,TRUE,FALSE,Active +GARD:61,Active,Orphanet,ORPHA:1988,Disorder,[Malformation syndrome],Femoral-facial syndrome,"[FFS, FHUFS, Femoral hypoplasia-unusual facies syndrome]",Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.,[134780],,,,,Femoral facial syndrome,TRUE,FALSE,Active +GARD:610,Legacy,GARD,,,,,,,,,,,,Alopecia macular degeneration growth retardation,TRUE,FALSE,Retired +GARD:6100,Active,Orphanet,ORPHA:379,Disorder,[Disease],Chronic granulomatous disease,"[CGD, Chronic septic granulomatosis]","A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.","[306400, 613960, 233710, 233690, 618935, 233700]",,,,,Chronic granulomatous disease,TRUE,FALSE,Active +GARD:6102,Active,Orphanet,ORPHA:2932,Disorder,[Disease],Chronic inflammatory demyelinating polyneuropathy,"[CIDP, Chronic inflammatory demyelinating polyradiculoneuropathy]","A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.",,,,,,Chronic inflammatory demyelinating polyneuropathy,TRUE,FALSE,Active +GARD:6104,Active,Orphanet,ORPHA:67038,Disorder,[Disease],B-cell chronic lymphocytic leukemia,"[B-CLL, B-cell chronic lymphoid leukemia, Small lymphocytic lymphoma]","B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.","[109543, 612558, 151400, 612559, 609630, 612557]",,,,,Chronic lymphocytic leukemia,TRUE,FALSE,Active +GARD:6105,Active,Orphanet,ORPHA:521,Disorder,[Disease],Chronic myeloid leukemia,"[CML, Chronic granulocytic leukemia, Chronic myelogenous leukemia]",Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.,[608232],,,,,Chronic myeloid leukemia,TRUE,FALSE,Active +GARD:6107,Active,Orphanet+OMIM,OMIM:257100,Subtype of disorder,[Disease subtype],"Neutropenia, lethal congenital, with eosinophilia",,"{1:Andrews et al. (1960)} described 2 affected sibs. The parents were not known to be related. It is not entirely certain that this is an entity separate from that listed as agranulocytosis ({202700}). It is possible that some cases of neonatal neutropenia are due to fetomaternal immunization involving neutrophil-specific antigens ({2:Lalezari and Radel, 1974}).",[257100],[486],[Autosomal dominant severe congenital neutropenia],[9558],,Neutropenia lethal congenital with eosinophilia,TRUE,FALSE,Active +GARD:6108,Active,Orphanet,ORPHA:324964,Disorder,[Disease],Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,[CNO/CRMO],"Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.",[259680],,,,,Chronic recurrent multifocal osteomyelitis,TRUE,FALSE,Active +GARD:6111,Active,Orphanet,ORPHA:183,Disorder,[Disease],Eosinophilic granulomatosis with polyangiitis,"[Churg-Strauss syndrome, EGPA, Granulomatous allergic angiitis]","A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations.",,,,,,Eosinophilic granulomatosis with polyangiitis,TRUE,FALSE,Active +GARD:6113,Legacy,GARD,,,,,,,,,,,,Ciguatera fish poisoning,TRUE,FALSE,Active +GARD:6114,Active,Orphanet,ORPHA:247525,Disorder,[Disease],Citrullinemia type I,"[ASS deficiency, Argininosuccinate synthase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, CTLN1, Citrullinemia type 1, Classic citrullinemia]","Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).",[215700],,,,,Citrullinemia type I,TRUE,FALSE,Active +GARD:6118,Active,Orphanet,ORPHA:1452,Disorder,[Malformation syndrome],Cleidocranial dysplasia,[Cleidocranial dysostosis],"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.","[216330, 119600]",,,,,Cleidocranial dysplasia,TRUE,FALSE,Active +GARD:612,Active,Orphanet,ORPHA:2850,Disorder,[Disease],Alopecia-intellectual disability syndrome,[Perniola-Krajewska-Carnevale syndrome],"An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.","[203650, 610422, 618840, 613930]",,,,,Alopecia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:6121,Active,Orphanet,ORPHA:190,Disorder,[Disease],Coats disease,"[Congenital retinal telangiectasia, Leber miliary aneurysm]","Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.",[300216],,,,,Coats disease,TRUE,FALSE,Active +GARD:6122,Active,Orphanet,ORPHA:191,Disorder,[Disease],Cockayne syndrome,,"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.","[610758, 214150, 610756, 616570, 216400, 133540, 278780]",,,,,Cockayne syndrome,TRUE,FALSE,Active +GARD:6123,Active,Orphanet,ORPHA:192,Disorder,[Malformation syndrome],Coffin-Lowry syndrome,[CLS],"A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.",[303600],,,,,Coffin-Lowry syndrome,TRUE,FALSE,Active +GARD:6124,Active,Orphanet,ORPHA:1465,Disorder,[Malformation syndrome],Coffin-Siris syndrome,[CSS],"A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.","[618779, 615866, 617808, 619325, 618506, 614607, 135900, 614608, 616938, 618027, 618362, 614609]",,,,,Coffin-Siris syndrome,TRUE,FALSE,Active +GARD:6125,Active,Orphanet,ORPHA:98980,Subtype of disorder,[Clinical subtype],Cogan-Reese syndrome,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.",,,,,,Cogan-Reese syndrome,TRUE,FALSE,Active +GARD:6126,Active,Orphanet,ORPHA:193,Disorder,[Malformation syndrome],Cohen syndrome,,"A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.",[216550],,,,,Cohen syndrome,TRUE,FALSE,Active +GARD:613,Active,Orphanet,ORPHA:700,Disorder,[Disease],Alopecia totalis,,"A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.","[300042, 610753, 104000]",,,,,Alopecia totalis,TRUE,FALSE,Active +GARD:6130,Active,Orphanet,ORPHA:56425,Disorder,[Disease],Cold agglutinin disease,"[CAD, CAS, Chronic cold agglutinin disease, Cold agglutinin syndrome]",Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).,,,,,,Cold agglutinin disease,TRUE,FALSE,Active +GARD:6131,Legacy,GARD,,,,,,,,,,,,Cold urticaria,TRUE,FALSE,Active +GARD:6135,Legacy,GARD,,,,,,,,,,,,Collagenous colitis,FALSE,FALSE,Active +GARD:6137,Legacy,GARD,,,,,,,,,,,,Colonic malakoplakia,TRUE,FALSE,Active +GARD:614,Active,Orphanet,ORPHA:701,Disorder,[Disease],Alopecia universalis,,"A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.","[203655, 610753, 104000]",,,,,Alopecia universalis,TRUE,FALSE,Active +GARD:6140,Active,Orphanet,ORPHA:1572,Disorder,[Disease],Common variable immunodeficiency,"[CVID, Idiopathic immunoglobulin deficiency, Primary antibody deficiency, Primary hypogammaglobulinemia]","Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.","[613494, 146830, 607594, 240500, 613495, 613496, 613493, 615577, 616576, 614699]",,,,,Common variable immunodeficiency,TRUE,FALSE,Active +GARD:6141,Legacy,GARD,,,,,,,,,,,,Compartment syndrome,TRUE,FALSE,Active +GARD:6145,Active,Orphanet+OMIM,OMIM:120970,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 2,"[retinal cone-rod dystrophy, cone-rod retinal dystrophy, Cone-rod dystrophy]","Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina ({10:Moore, 1992}). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found ({12:Tzekov, 1998}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy\n\nThere are several other autosomal forms of CORD for which the molecular basis is known. CORD3 ({604116}) is caused by mutation in the ABCA4 gene ({601691}) on chromosome 1p22. CORD5 ({600977}) is caused by mutation in the PITPNM3 gene ({608921}) on chromosome 17p13. CORD6 ({601777}) is caused by mutation in the GUCY2D gene ({600179}) on chromosome 17p13.1. CORD7 ({603649}) is caused by mutation in the RIMS1 gene ({606629}) on chromosome 6q13. CORD9 ({612775}) is caused by mutation in the ADAM9 gene ({602713}) on chromosome 8p11. CORD10 ({610283}) is caused by mutation in the SEMA4A gene ({607292}) on chromosome 1q22. CORD11 ({610381}) is caused by mutation in the RAXL1 gene ({610362}) on chromosome 19p13. CORD12 ({612657}) is caused by mutation in the PROM1 gene ({604365}) on chromosome 4p15. CORD13 ({608194}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. CORD14 (see {602093}) is caused by mutation in the GUCA1A gene ({600364}) on chromosome 6p21. CORD15 ({613660}) is caused by mutation in the CDHR1 gene ({609502}) on chromosome 10q23. CORD16 ({614500}) is caused by mutation in the C8ORF37 gene ({614477}) on chromosome 8q22. CORD18 ({615374}) is caused by mutation in the RAB28 gene ({612994}) on chromosome 4p15. CORD19 ({615860}) is caused by mutation in the TTLL5 gene ({612268}) on chromosome 14q24. CORD20 ({615973}) is caused by mutation in the POC1B gene ({614784}) on chromosome 12q21. CORD21 ({616502}) is caused by mutation in the DRAM2 gene ({613360}) on chromosome 1p13. CORD22 ({619531}) is caused by mutation in the TLCD3B gene ({615175}) on chromosome 16p11.\n\nA diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene ({604392.0004}) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene ({604011.0001}) on chromosome 17q11.2.\n\nOther mapped loci for autosomal CORD include CORD1 ({600624}) on chromosome 18q21.1-q21.3; CORD8 ({605549}) on chromosome 1q12-q24; and CORD17 ({615163}) on chromosome 10q26.\n\nFor a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 ({304020}).",[120970],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 2,TRUE,FALSE,Active +GARD:6148,Active,Orphanet,ORPHA:82,Disorder,[Disease],Hereditary thrombophilia due to congenital antithrombin deficiency,[Hereditary thrombophilia due to congenital antithrombin 3 deficiency],"Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).",[613118],,,,,Hereditary antithrombin deficiency,TRUE,FALSE,Active +GARD:6149,Legacy,GARD,,,,,,,,,,,,Congenital aplastic anemia,TRUE,FALSE,Active +GARD:615,Legacy,GARD,,,,,,,,,,,,Alopecia universalis onychodystrophy vitiligo,TRUE,FALSE,Active +GARD:6150,Legacy,GARD,,,,,,,,,,,,Congenital arteriovenous shunt,TRUE,FALSE,Active +GARD:6154,Legacy,GARD,,,,,,,,,,,,Congenital cardiovascular shunt,TRUE,FALSE,Active +GARD:616,Legacy,GARD,,,,,,,,,,,,Alpha-2 deficient collagen disease,TRUE,FALSE,Retired +GARD:6161,Active,Orphanet,ORPHA:2020,Disorder,[Disease],Congenital fiber-type disproportion myopathy,[CFTDM],"A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.","[617760, 255310, 300580]",,,,,Congenital fiber type disproportion,TRUE,FALSE,Active +GARD:6163,Legacy,GARD,,,,,,,,,,,,Congenital generalized fibromatosis,TRUE,FALSE,Retired +GARD:6164,Active,Orphanet,ORPHA:60041,Disorder,[Disease],Congenital heart block,[Congenital atrioventricular block],"Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.",[234700],,,,,Congenital heart block,TRUE,FALSE,Active +GARD:6167,Legacy,GARD,,,,,,,,,,,,Congenital hemolytic anemia,TRUE,FALSE,Active +GARD:6168,Active,Orphanet+OMIM,OMIM:263200,Subtype of disorder,[Disease subtype],Polycystic kidney disease 4 with or without polycystic liver disease,"[pkd3, formerly, Polycystic kidney disease 4 with or without hepatic disease, polycystic kidney and hepatic disease 1, polycystic kidney disease, infantile, type i, polycystic kidney disease, autosomal recessive]","PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by {23:Hartung and Guay-Woodford, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900}).",[263200],[731],[Autosomal recessive polycystic kidney disease],[8378],,Congenital hepatic fibrosis,TRUE,FALSE,Active +GARD:6169,Active,Orphanet,ORPHA:95159,Disorder,[Disease],Hepatoerythropoietic porphyria,[HEP],Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.,[176100],,,,,Hepatoerythropoietic porphyria,TRUE,FALSE,Active +GARD:617,Active,Orphanet,ORPHA:31,Disorder,[Disease],Oxoglutaric aciduria,[Alpha-ketoglutarate dehydrogenase deficiency],"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.",[203740],,,,,Alpha-ketoglutarate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:6170,Legacy,GARD,,,,,,,,,,,,Congenital hypomyelination neuropathy,TRUE,FALSE,Retired +GARD:6176,Active,Orphanet+OMIM,OMIM:160800,Subtype of disorder,[Disease subtype],"Myotonia congenita, autosomal dominant",[Thomsen disease],"Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction ({27:Sun et al., 2001}). Thomsen disease is less common and less severe than Becker disease.\n\nSee also paramyotonia congenita (PMC; {168300}) and potassium-aggravated myotonia ({608390}), overlapping phenotypes caused by mutations in the SCN4A gene ({603967}).",[160800],[614],[Thomsen and Becker disease],[12301],,Myotonia congenita autosomal dominant,TRUE,FALSE,Retired +GARD:6177,Legacy,GARD,,,,,,,,,,,,Congenital nonhemolytic jaundice,TRUE,FALSE,Active +GARD:6183,Legacy,GARD,,,,,,,,,,,,Congenital sucrose isomaltose malabsorption,TRUE,FALSE,Retired +GARD:6187,Legacy,GARD,,,,,,,,,,,,Ligneous conjunctivitis,TRUE,FALSE,Active +GARD:6188,Legacy,GARD,,,,,,,,,,,,Conn's syndrome,TRUE,FALSE,Retired +GARD:6189,Active,Orphanet,ORPHA:35173,Disorder,[Disease],X-linked dominant chondrodysplasia punctata,"[CDPX2, CDPXD, CPXD, Chondrodystrophia calcificans congenita, Conradi-Hünermann-Happle syndrome, X-linked chondrodysplasia punctata type 2]","A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.",[302960],,,,,X-linked dominant chondrodysplasia punctata 2,TRUE,FALSE,Active +GARD:6191,Legacy,GARD,,,,,,,,,,,,Conversion disorder,TRUE,FALSE,Active +GARD:6193,Legacy,GARD,,,,,,,,,,,,Cor biloculare,TRUE,FALSE,Active +GARD:6194,Active,Orphanet,ORPHA:1463,Group of disorders,[Clinical group],Triatrial heart,[Cor triatriatum],,,,,,,Cor triatriatum,TRUE,FALSE,Active +GARD:6196,Active,Orphanet,ORPHA:293603,Disorder,[Disease],Congenital hereditary endothelial dystrophy type II,"[Autosomal recessive CHED, Autosomal recessive congenital hereditary endothelial dystrophy, CHED2, CHEDII, Congenital hereditary endothelial dystrophy type 2, Infantile hereditary endothelial dystrophy, Maumenee corneal dystrophy]","Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.",[217700],,,,,Corneal endothelial dystrophy type 2,TRUE,FALSE,Active +GARD:62,Active,Orphanet,ORPHA:3255,Disorder,[Malformation syndrome],Filippi syndrome,[Type 1 syndactyly-microcephaly-intellectual disability syndrome],"Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.",[272440],,,,,Filippi syndrome,TRUE,FALSE,Active +GARD:6200,Legacy,GARD,,,,,,,,,,,,Coronary artery aneurysm,TRUE,FALSE,Active +GARD:6202,Active,Orphanet,ORPHA:201,Disorder,[Disease],Cowden syndrome,"[Cowden disease, Multiple hamartoma syndrome]","A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.","[158350, 615107, 615108, 616858, 615109]",,,,,Cowden syndrome,TRUE,FALSE,Active +GARD:6205,Active,Orphanet,ORPHA:581271,Disorder,[Disease],Cramp-fasciculation syndrome,,,,,,,,Cramp-fasciculation syndrome,TRUE,FALSE,Active +GARD:6206,Active,Orphanet,ORPHA:207,Disorder,[Malformation syndrome],Crouzon syndrome,[Crouzon craniofacial dysostosis],Crouzon disease is characterized by craniosynostosis and facial hypoplasia.,[123500],,,,,Crouzon syndrome,TRUE,FALSE,Active +GARD:6209,Active,Orphanet,ORPHA:1531,Group of disorders,[Category],Craniosynostosis,,Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.,,,,,,Craniosynostosis,TRUE,FALSE,Active +GARD:621,Active,Orphanet,ORPHA:846,Disorder,[Disease],Alpha-thalassemia,,A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.,[604131],,,,,Alpha-thalassemia,TRUE,FALSE,Active +GARD:6211,Legacy,GARD,,,,,,,,,,,,Neonatal hypothyroidism,TRUE,FALSE,Retired +GARD:6213,Active,Orphanet,ORPHA:281,Disorder,[Malformation syndrome],Monosomy 5p,"[Cri du chat syndrome, Deletion 5p]","A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.",[123450],,,,,Cri du chat syndrome,TRUE,FALSE,Active +GARD:6217,Active,Orphanet,ORPHA:91139,Disorder,[Disease],Simple cryoglobulinemia,[Cryoglobulinemia type 1],Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.,,,,,,Simple cryoglobulinemia,TRUE,FALSE,Active +GARD:6218,Active,Orphanet,ORPHA:1546,Disorder,[Disease],Cryptococcosis,,A cosmopolitan fungal infection due to Cryptococcus neoformans.,,,,,,Cryptococcosis,TRUE,FALSE,Active +GARD:6219,Legacy,GARD,,,,,,,,,,,,Cryptosporidiosis,TRUE,FALSE,Active +GARD:6224,Active,Orphanet,ORPHA:553,Group of disorders,[Clinical group],Cushing syndrome,"[Hyperadrenocorticism, Hypercortisolism]",Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.,,,,,,Cushing's syndrome,TRUE,FALSE,Active +GARD:6225,Active,Orphanet,ORPHA:535,Group of disorders,[Clinical group],Rare cutaneous lupus erythematosus,,Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).,,,,,,Cutaneous lupus erythematosus,TRUE,FALSE,Active +GARD:6226,Active,Orphanet,ORPHA:171901,Group of disorders,[Category],Primary cutaneous T-cell lymphoma,,,,,,,,Cutaneous T-cell lymphoma,TRUE,FALSE,Active +GARD:6227,Active,Orphanet,ORPHA:209,Group of disorders,[Clinical group],Cutis laxa,,"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.",,,,,,Cutis laxa,TRUE,FALSE,Active +GARD:6228,Active,Orphanet,ORPHA:1556,Disorder,[Malformation syndrome],Cutis marmorata telangiectatica congenita,[CMTC],"Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.",[219250],,,,,Cutis marmorata telangiectatica congenita,TRUE,FALSE,Active +GARD:6229,Active,Orphanet,ORPHA:2686,Disorder,[Disease],Cyclic neutropenia,,"A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.",[162800],,,,,Cyclic neutropenia,TRUE,FALSE,Active +GARD:6230,Legacy,GARD,,,,,,,,,,,,Cyclic vomiting syndrome,FALSE,FALSE,Active +GARD:6232,Legacy,GARD,,,,,,,,,,,,Cystic adenomatoid malformation of lung,TRUE,FALSE,Active +GARD:6233,Active,Orphanet,ORPHA:586,Disorder,[Disease],Cystic fibrosis,"[CF, Mucoviscidosis]","A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.",[219700],,,,,Cystic fibrosis,TRUE,FALSE,Active +GARD:6234,Legacy,GARD,,,,,,,,,,,,Cystic hygroma,TRUE,FALSE,Active +GARD:6236,Active,Orphanet,ORPHA:213,Disorder,[Disease],Cystinosis,[Protein defect of cystin transport],"A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.","[219750, 219900, 219800]",,,,,Cystinosis,TRUE,FALSE,Active +GARD:6237,Active,Orphanet,ORPHA:214,Disorder,[Disease],Cystinuria,[Cystinuria-lysinuria syndrome],A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.,[220100],,,,,Cystinuria,TRUE,FALSE,Active +GARD:624,Active,Orphanet,ORPHA:88918,Subtype of disorder,[Clinical subtype],Autosomal dominant Alport syndrome,,,[104200],,,,,Autosomal dominant Alport syndrome,TRUE,FALSE,Active +GARD:6240,Legacy,GARD,,,,,,,,,,,,D-minus hemolytic uremic syndrome (D-HUS),TRUE,FALSE,Active +GARD:6241,Legacy,GARD,,,,,,,,,,,,D-plus hemolytic uremic syndrome (D+HUS),TRUE,FALSE,Active +GARD:6242,Active,Orphanet,ORPHA:217,Disorder,[Morphological anomaly],Isolated Dandy-Walker malformation,,"A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.",[220200],,,,,Dandy-Walker complex,TRUE,FALSE,Active +GARD:6243,Active,Orphanet,ORPHA:218,Disorder,[Disease],Darier disease,"[Darier-White disease, Keratosis follicularis]","A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.",[124200],,,,,Darier disease,TRUE,FALSE,Active +GARD:6249,Active,Orphanet,ORPHA:679,Disorder,[Disease],Malignant atrophic papulosis,"[Degos disease, Köhlmeier-Degos disease, Köhlmeier-Degos-Delort-Tricort syndrome, Papulosis atrophican maligna]","Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.",[602248],,,,,Malignant Atrophic Papulosis,TRUE,FALSE,Active +GARD:625,Active,Orphanet,ORPHA:88919,Subtype of disorder,[Clinical subtype],Autosomal recessive Alport syndrome,,,[203780],,,,,Autosomal recessive Alport syndrome,TRUE,FALSE,Active +GARD:6254,Active,Orphanet,ORPHA:99828,Disorder,[Disease],Dengue fever,"[DF, Dengue virus infection]","Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).",[614371],,,,,Dengue fever,TRUE,FALSE,Active +GARD:6256,Legacy,GARD,,,,,,,,,,,,Calcifying Epithelial Odontogenic Tumor,TRUE,FALSE,Active +GARD:6258,Active,Orphanet,ORPHA:49042,Disorder,[Disease],Dentinogenesis imperfecta,"[DGI, DGI without OI, DI, Dentinogenesis imperfecta without osteogenesis imperfecta, Non-syndromic DGI, Non-syndromic dentinogenesis imperfecta, Opalescent teeth without OI, Opalescent teeth without osteogenesis imperfecta]",Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.,,,,,,Dentinogenesis imperfecta ,TRUE,FALSE,Active +GARD:6260,Legacy,GARD,,,,,,,,,,,,Depersonalization/derealization disorder,TRUE,FALSE,Active +GARD:6263,Active,Orphanet,ORPHA:221,Disorder,[Disease],Dermatomyositis,[Adult dermatomyositis],"A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-γ, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.",,,,,,Dermatomyositis,TRUE,FALSE,Active +GARD:6265,Active,Orphanet,ORPHA:83469,Disorder,[Disease],Desmoplastic small round cell tumor,[DSRCT],"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.",,,,,,Desmoplastic small round cell tumor,TRUE,FALSE,Active +GARD:6267,Active,Orphanet,ORPHA:71211,Disorder,[Disease],Neuromyelitis optica spectrum disorder,"[Devic disease, NMOSD]",A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.,,,,,,Neuromyelitis optica spectrum disorder,TRUE,FALSE,Active +GARD:6268,Legacy,GARD,,,,,,,,,,,,Dextrocardia with situs inversus,TRUE,FALSE,Active +GARD:6274,Active,Orphanet,ORPHA:124,Disorder,[Disease],Blackfan-Diamond anemia,"[Aase syndrome, Aase-Smith II syndrome, Congenital PRCA, Congenital hypoplastic anemia, Blackfan-Diamond type, Congenital pure red cell aplasia, Diamond-Blackfan anemia]",Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.,"[615550, 617408, 613308, 606164, 610629, 617409, 612561, 606129, 618310, 613309, 618312, 614900, 612562, 615909, 612527, 612563, 612528, 105650, 300946, 618313]",,,,,Diamond-Blackfan anemia,TRUE,FALSE,Active +GARD:6275,Active,Orphanet,ORPHA:628,Disorder,[Disease],Diastrophic dysplasia,[Diastrophic dwarfism],"A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).",[222600],,,,,Diastrophic dysplasia,TRUE,FALSE,Active +GARD:6276,Active,Orphanet,ORPHA:1672,Disorder,[Disease],Diencephalic syndrome,"[Diencephalic cachexia, Diencephalic syndrome of childhood, Diencephalic syndrome of emaciation, Russell diencephalic cachexia, Russell syndrome]","Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.",,,,,,Diencephalic syndrome,TRUE,FALSE,Active +GARD:6285,Legacy,GARD,,,,,,,,,,,,Doxorubicin induced cardiomyopathy,TRUE,FALSE,Active +GARD:6286,Active,Orphanet,ORPHA:231,Disorder,[Disease],Dracunculiasis,"[Dracunculosis, Guinea worm disease, Medina worm disease, Medinensis]","Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).",,,,,,Dracunculiasis,TRUE,FALSE,Active +GARD:6288,Active,Orphanet,ORPHA:233,Disorder,[Malformation syndrome],Duane retraction syndrome,"[DRS, DURS, Duane syndrome, Stilling-Turk-Duane syndrome]","A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.","[617041, 604356, 616219, 126800]",,,,,Duane syndrome,TRUE,FALSE,Active +GARD:6289,Legacy,GARD,,,,,,,,,,,,Dubin-Johnson syndrome,TRUE,FALSE,Active +GARD:6290,Active,Orphanet,ORPHA:235,Disorder,[Malformation syndrome],Dubowitz syndrome,,"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.",[223370],,,,,Dubowitz syndrome,TRUE,FALSE,Active +GARD:6291,Active,Orphanet,ORPHA:98896,Disorder,[Disease],Duchenne muscular dystrophy,"[DMD, Severe dystrophinopathy, Duchenne type]","A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.",[310200],,,,,Duchenne muscular dystrophy,TRUE,FALSE,Active +GARD:6294,Legacy,GARD,,,,,,,,,,,,Dwarfism Levi type,TRUE,FALSE,Active +GARD:6295,Active,Orphanet,ORPHA:239,Disorder,[Disease],Dyggve-Melchior-Clausen disease,,"A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)","[223800, 304950]",,,,,Dyggve-Melchior-Clausen syndrome,TRUE,FALSE,Active +GARD:6299,Active,Orphanet+OMIM,OMIM:127550,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 1","[Dyskeratosis congenita, scoggins type]","Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by {3:Bessler et al., 2007} and {4:Bessler et al., 2010}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {16:Walne et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome\n\nDyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 ({613989}), caused by mutation in the TERT gene ({187270}) on chromosome 5p15; DKCA3 ({613990}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13, DKCA5 ({268130}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12, and DKCA6 ({616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22.\n\nAutosomal recessive forms include DKCB1 ({224230}), caused by mutation in the NOLA3 gene ({606471}) on chromosome 15q14; DKCB2 ({613987}), caused mutation in the NOLA2 gene ({606470}) on chromosome 5q35; DKCB3 ({613988}), caused by mutation in the TCAB1 gene (WRAP53; {612661}) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; DKCB5 ({615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13; DKCB6 ({616353}), caused by mutation in the PARN gene ({604212}) on chromosome 16p13; and DKCB7 (see {616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22. X-linked recessive DKCX ({305000}) is caused by mutation in the dyskerin gene (DKC1; {300126}) on Xq28.\n\nHoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 ({300136}), TINF2 ({604319}), TERT ({187270}), and RTEL1 ({608833}).\n\nSee also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.\n\nMutation in the CTC1 gene ({613129}) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; {612199}), another telomere-related disorder with overlapping features of DKC.",[127550],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita autosomal dominant,TRUE,FALSE,Active +GARD:63,Legacy,GARD,,,,,,,,,,,,Forbes Albright syndrome,TRUE,FALSE,Retired +GARD:6300,Active,Orphanet+OMIM,OMIM:224230,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 1",,"Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {7:Kirwan and Dokal, 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[224230],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita autosomal recessive,TRUE,FALSE,Active +GARD:6308,Active,Orphanet,ORPHA:79408,Disorder,[Disease],"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","[Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, Generalized RDEB, severe form, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type, Severe generalized RDEB]",A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.,[226600],,,,,Severe generalized recessive dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:6309,Active,Orphanet,ORPHA:40923,Disorder,[Disease],Eales disease,"[Idiopathic retinal perivasculitis, Idiopathic retinal vasculitis]","A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.",,,,,,Eales disease,TRUE,FALSE,Active +GARD:6313,Active,Orphanet,ORPHA:1880,Disorder,[Morphological anomaly],Ebstein malformation of the tricuspid valve,[Ebstein anomaly of the tricuspid valve],"A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.",[224700],,,,,Ebstein's anomaly,TRUE,FALSE,Active +GARD:6314,Legacy,GARD,,,,,,,,,,,,Eccentrochondrodysplasia,TRUE,FALSE,Active +GARD:6315,Legacy,GARD,,,,,,,,,,,,Eccrine acrospiromas,TRUE,FALSE,Retired +GARD:6316,Legacy,GARD,,,,,,,,,,,,Eclampsia,TRUE,FALSE,Active +GARD:6317,Active,Orphanet,ORPHA:79373,Group of disorders,[Category],Ectodermal dysplasia syndrome,[Ectodermal dysplasia],"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.",,,,,,Ectodermal dysplasia,TRUE,FALSE,Active +GARD:6318,Legacy,GARD,,,,,,,,,,,,Ectopic pregnancy,TRUE,FALSE,Active +GARD:6319,Active,Orphanet,ORPHA:2440,Disorder,[Malformation syndrome],Isolated split hand-split foot malformation,"[Ectrodactyly, SHFM, Split hand foot malformation]","A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.","[313350, 606708, 605289, 225300, 183600, 246560]",,,,,Split hand foot malformation,TRUE,FALSE,Active +GARD:632,Legacy,GARD,,,,,,,,,,,,Familial Alzheimer disease,TRUE,FALSE,Active +GARD:6321,Active,Orphanet,ORPHA:3380,Disorder,[Malformation syndrome],Trisomy 18,"[Chromosome 18 duplication, Edwards syndrome]","Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.",,,,,,Trisomy 18,TRUE,FALSE,Active +GARD:6322,Active,Orphanet,ORPHA:98249,Group of disorders,[Clinical group],Ehlers-Danlos syndrome,[EDS],"A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.",,,,,,Ehlers-Danlos syndromes,TRUE,FALSE,Active +GARD:6323,Active,Orphanet,ORPHA:97214,Disorder,[Malformation syndrome],Eisenmenger syndrome,,A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.,,,,,,Eisenmenger syndrome,TRUE,FALSE,Active +GARD:6324,Legacy,GARD,,,,,,,,,,,,Elective mutism,TRUE,FALSE,Active +GARD:6329,Active,Orphanet,ORPHA:261,Disorder,[Disease],Emery-Dreifuss muscular dystrophy,[EDMD],"A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.","[612998, 616516, 612999, 181350, 614302, 310300, 300696]",,,,,Emery-Dreifuss muscular dystrophy,TRUE,FALSE,Active +GARD:6331,Legacy,GARD,,,,,,,,,,,,Empty sella syndrome,TRUE,FALSE,Active +GARD:6332,Active,Orphanet,ORPHA:83600,Disorder,[Disease],Encephalitis lethargica,[Von Economo encephalitis],"A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.",,,,,,Encephalitis lethargica,TRUE,FALSE,Active +GARD:6333,Active,Orphanet,ORPHA:199647,Disorder,[Morphological anomaly],Isolated encephalocele,,"A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size nad location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.",,,,,,Encephalocele,TRUE,FALSE,Active +GARD:6335,Legacy,GARD,,,,,,,,,,,,Enchondroma,TRUE,FALSE,Active +GARD:6336,Active,Orphanet,ORPHA:2022,Disorder,[Disease],Endocardial fibroelastosis,[Endomyocardial fibroelastosis],"Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.",[226000],,,,,Endocardial fibroelastosis,TRUE,FALSE,Active +GARD:6337,Active,Orphanet,ORPHA:570762,Disorder,[Disease],Infective endocarditis,"[Bacterial endocarditis, Infectious endocarditis]","A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly Staphylococcus and Streptococcus species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure.",,,,,,Infective endocarditis,TRUE,FALSE,Active +GARD:6339,Active,Orphanet,ORPHA:213711,Disorder,[Disease],Endometrial stromal sarcoma,[Stromal sarcoma of the corpus uteri],,,,,,,Endometrial stromal sarcoma,TRUE,FALSE,Active +GARD:634,Active,Orphanet,ORPHA:65,Disorder,[Disease],Leber congenital amaurosis,[Amaurosis congenita of Leber],"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.","[615360, 179900, 604232, 604537, 613829, 612712, 613837, 604393, 608553, 618513, 614186, 611755, 204100, 613341, 613826, 613835, 610612, 204000, 613843]",,,,,Leber congenital amaurosis,TRUE,FALSE,Active +GARD:6340,Legacy,GARD,,,,,,,,,,,,Endomyocardial fibrosis,TRUE,FALSE,Active +GARD:6342,Legacy,GARD,,,,,,,,,,,,Enterobiasis,TRUE,FALSE,Retired +GARD:6343,Legacy,GARD,,,,,,,,,,,,Enteropathica,TRUE,FALSE,Active +GARD:6345,Legacy,GARD,,,,,,,,,,,,Eosinophilia-myalgia syndrome,TRUE,FALSE,Active +GARD:6346,Legacy,GARD,,,,,,,,,,,,Eosinophilic cryptitis,TRUE,FALSE,Active +GARD:6347,Legacy,GARD,,,,,,,,,,,,Eosinophilic cystitis,TRUE,FALSE,Active +GARD:635,Active,Orphanet+OMIM,OMIM:204000,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 1,"[lca, retinal blindness, congenital, Amaurosis congenita of leber i]","Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\n<Subhead> Genetic Heterogeneity of Leber Congenital Amaurosis\n\nLCA2 ({204100}) is caused by mutation in the RPE65 gene (RPE65; {180069}) on chromosome 1p31. LCA3 ({604232}) is caused by mutation in the SPATA7 gene ({609868}) on chromosome 14q31. LCA4 ({604393}) is caused by mutation in the AIPL1 gene ({604392}) on chromosome 17p13. LCA5 ({604537}) is caused by mutation in the LCA5 gene ({611408}) on chromosome 6q14. LCA6 ({613826}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. LCA7 ({613829}) is caused by mutation in the CRX gene ({602225}) on chromosome 19q13. LCA8 ({613835}) is caused by mutation in the CRB1 gene ({604210}) on chromosome 1q31. LCA9 ({608553}) is caused by mutation in the NMNAT1 gene ({608700}) on chromosome 1p36. LCA10 ({611755}) is caused by mutation in the CEP290 gene ({610142}) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 ({613837}) is caused by mutation in the IMPDH1 gene ({146690}) on chromosome 7q32. LCA12 ({610612}) is caused by mutation in the RD3 gene ({180040}) on chromosome 1q32. LCA13 ({612712}) is caused by mutation in the RDH12 gene ({608830}) on chromosome 14q24. LCA14 ({613341}) is caused by mutation in the LRAT gene ({604863}) on chromosome 4q32. LCA15 ({613843}) is caused by mutation in the TULP1 gene ({602280}) on chromosome 6p21. LCA16 ({614186}) is caused by mutation in the KCNJ13 gene ({603208}) on chromosome 2q37. LCA17 ({615360}) is caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22. LCA18 (see {608133}) is caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21. LCA19 ({618513}) is caused by mutation in the USP45 gene ({618439}) on chromosome 6q16.\n\n{23:Perrault et al. (1999)} provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.\n\n{34:Wiszniewski et al. (2011)} analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. {34:Wiszniewski et al. (2011)} stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.\n\nBecause LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, {609254}).",[204000],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 1,TRUE,FALSE,Active +GARD:6351,Active,Orphanet,ORPHA:3165,Disorder,[Disease],Eosinophilic fasciitis,"[Diffuse fasciitis with eosinophilia, Shulman syndrome]","A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.",[226350],,,,,Eosinophilic fasciitis,TRUE,FALSE,Active +GARD:6352,Legacy,GARD,,,,,,,,,,,,Embryonal tumor with multilayered rosettes,TRUE,FALSE,Active +GARD:6353,Active,Orphanet,ORPHA:251636,Disorder,[Disease],Ependymoma,[Classic ependymoma],"Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.",,,,,,Ependymoma,TRUE,FALSE,Active +GARD:6355,Legacy,GARD,,,,,,,,,,,,Venezuelan equine encephalitis,TRUE,FALSE,Active +GARD:6357,Active,Orphanet,ORPHA:302,Disorder,[Disease],Epidermodysplasia verruciformis,"[Lewandowsky-Lutz syndrome, Lutz-Lewandowsky epidermodysplasia verruciformis]",Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.,"[618231, 618267, 226400, 618309, 305350]",,,,,Epidermodysplasia verruciformis,TRUE,FALSE,Active +GARD:6359,Legacy,GARD,,,,,,,,,,,,Epidermolysis bullosa,TRUE,FALSE,Active +GARD:636,Active,Orphanet+OMIM,OMIM:204100,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 2,[Amaurosis congenita of leber ii],"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[204100],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 2,TRUE,FALSE,Active +GARD:6360,Active,Orphanet,ORPHA:46487,Disorder,[Disease],Epidermolysis bullosa acquisita,[Acquired epidermolysis bullosa],"A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.",,,,,,Epidermolysis bullosa acquisita,TRUE,FALSE,Active +GARD:6364,Legacy,GARD,,,,,,,,,,,,Epithelial-myoepithelial carcinoma,TRUE,FALSE,Active +GARD:6369,Active,Orphanet,ORPHA:35687,Disorder,[Disease],Erdheim-Chester disease,,"Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.",,,,,,Erdheim-Chester disease,TRUE,FALSE,Active +GARD:637,Active,Orphanet,ORPHA:1021,Disorder,[Disease],Amaurosis-hypertrichosis syndrome,,"A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.",[204110],,,,,Amaurosis congenita cone-rod type with congenital hypertrichosis,TRUE,FALSE,Active +GARD:6370,Legacy,GARD,,,,,,,,,,,,Erysipelas,TRUE,FALSE,Active +GARD:6372,Legacy,GARD,,,,,,,,,,,,Erythema multiforme,TRUE,FALSE,Active +GARD:6377,Active,Orphanet,ORPHA:90026,Disorder,[Disease],Primary erythromelalgia,[Primary erythermalgia],"Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.",[133020],,,,,Erythromelalgia,TRUE,FALSE,Active +GARD:6378,Legacy,GARD,,,,,,,,,,,,Erythroplakia,TRUE,FALSE,Active +GARD:6381,Active,Orphanet,ORPHA:1199,Disorder,[Morphological anomaly],Esophageal atresia,,"A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.",[189960],,,,,Esophageal atresia,TRUE,FALSE,Active +GARD:6383,Active,Orphanet,ORPHA:70482,Group of disorders,[Clinical group],Carcinoma of esophagus,[Esophageal carcinoma],Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).,,,,,,Esophageal cancer,TRUE,FALSE,Active +GARD:6384,Legacy,GARD,,,,,,,,,,,,Esophageal varices,TRUE,FALSE,Active +GARD:6386,Active,Orphanet,ORPHA:91138,Disorder,[Disease],Cryoglobulinemic vasculitis,"[Essential cryoglobulinemia, Essential mixed cryoglobulinemia, Mixed cryoglobulinemia, Primary cryoglobulinemia]","A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.",[123550],,,,,Cryoglobulinemic vasculitis,TRUE,FALSE,Active +GARD:6389,Active,Orphanet,ORPHA:1959,Disorder,[Disease],Evans syndrome,"[Autoimmune hemolytic anemia and autoimmune thrombocytopenia, Immune pancytopenia]","A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.",,,,,,Evans syndrome,TRUE,FALSE,Active +GARD:6390,Active,Orphanet,ORPHA:319,Disorder,[Disease],Skeletal Ewing sarcoma,[Osseous Ewing sarcoma],Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.,[612219],,,,,Ewing sarcoma,TRUE,FALSE,Active +GARD:6392,Legacy,GARD,,,,,,,,,,,,Exercise-induced anaphylaxis,TRUE,FALSE,Active +GARD:6393,Legacy,GARD,,,,,,,,,,,,Exfoliative dermatitis,TRUE,FALSE,Active +GARD:6394,Legacy,GARD,,,,,,,,,,,,Exogenous lipoid pneumonia,TRUE,FALSE,Active +GARD:6398,Active,Orphanet,ORPHA:93930,Subtype of disorder,[Clinical subtype],Bladder exstrophy,[Classic exstrophy of the bladder],"A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.",[600057],,,,,Exstrophy of the bladder,TRUE,FALSE,Active +GARD:64,Active,Orphanet,ORPHA:3219,Disorder,[Malformation syndrome],Fountain syndrome,"[Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome, Hearing loss-skeletal dysplasia-coarse face with full lips syndrome, Hearing loss-skeletal dysplasia-lip granuloma syndrome]","Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.",[229120],,,,,Fountain syndrome,TRUE,FALSE,Active +GARD:640,Active,Orphanet,ORPHA:3319,Disorder,[Disease],Congenital amegakaryocytic thrombocytopenia,[CAMT],An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.,[604498],,,,,Congenital amegakaryocytic thrombocytopenia,TRUE,FALSE,Active +GARD:6400,Active,Orphanet,ORPHA:324,Disorder,[Disease],Fabry disease,"[Alpha-galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Diffuse angiokeratoma, FD]","A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.",[301500],,,,,Fabry disease,TRUE,FALSE,Active +GARD:6403,Legacy,GARD,,,,,,,,,,,,Factor V Leiden thrombophilia,FALSE,FALSE,Active +GARD:6404,Active,Orphanet,ORPHA:328,Disorder,[Disease],Congenital factor X deficiency,"[Congenital Stuart factor deficiency, Stuart-Prower factor deficiency]",A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.,[227600],,,,,Factor X deficiency,TRUE,FALSE,Active +GARD:6405,Active,Orphanet,ORPHA:599480,Disorder,[Disease],Acquired hemophilia A,"[AHA, Acquired F8 deficiency, Acquired factor VIII deficiency]",,,,,,,Acquired hemophilia A,TRUE,FALSE,Active +GARD:6406,Active,Orphanet,ORPHA:1980,Disorder,[Disease],Bilateral striopallidodentate calcinosis,"[BSPDC, Cerebrovascular ferrocalcinosis, Idiopathic basal ganglia calcification, PFBC, Primary familial brain calcification]","Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.","[615483, 616413, 618824, 615007, 213600]",,,,,Primary Familial Brain Calcification,TRUE,FALSE,Active +GARD:6407,Legacy,GARD,,,,,,,,,,,,Fairbank disease,TRUE,FALSE,Retired +GARD:6408,Active,Orphanet,ORPHA:733,Disorder,[Disease],Familial adenomatous polyposis,"[Colorectal adenomatous polyposis, FAP, Familial polyposis coli]",Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.,[175100],,,,,Familial adenomatous polyposis,TRUE,FALSE,Active +GARD:641,Legacy,GARD,,,,,,,,,,,,"Brachial amelia, cleft lip, and holoprosencephaly",TRUE,FALSE,Active +GARD:6410,Legacy,GARD,,,,,,,,,,,,Familial deafness,TRUE,FALSE,Active +GARD:6414,Active,Orphanet,ORPHA:444490,Disorder,[Disease],Familial chylomicronemia syndrome,,"A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas, and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.","[207750, 238600, 615947, 118830]",,,,,Familial chylomicronemia syndrome,TRUE,FALSE,Active +GARD:6416,Legacy,GARD,,,,,,,,,,,,Familial hyperlipo-proteinemia type 1,TRUE,FALSE,Retired +GARD:6418,Legacy,GARD,,,,,,,,,,,,Hyperlipoproteinemia type 4,TRUE,FALSE,Active +GARD:6420,Legacy,GARD,,,,,,,,,,,,Familial hypothyroidism,FALSE,FALSE,Draft +GARD:6421,Active,Orphanet,ORPHA:342,Disorder,[Disease],Familial Mediterranean fever,"[Benign paroxysmal peritonitis, Benign recurrent polyserositis, FMF, Familial paroxysmal polyserositis, Periodic disease]","Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.","[134610, 249100]",,,,,Familial Mediterranean fever,TRUE,FALSE,Active +GARD:6422,Legacy,GARD,,,,,,,,,,,,Familial periodic paralysis,TRUE,FALSE,Active +GARD:6424,Legacy,GARD,,,,,,,,,,,,Familial Treacher Collins syndrome,TRUE,FALSE,Retired +GARD:6425,Active,Orphanet,ORPHA:84,Disorder,[Malformation syndrome],Fanconi anemia,[Fanconi pancytopenia],"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.","[614083, 600901, 616435, 227645, 300514, 609053, 610832, 227646, 609054, 617243, 617883, 617244, 603467, 613390, 615272, 227650, 614082, 613951, 617247]",,,,,Fanconi anemia,TRUE,FALSE,Active +GARD:6426,Active,Orphanet,ORPHA:333,Disorder,[Disease],Farber disease,"[Acid ceramidase deficiency, Farber lipogranulomatosis]","A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.",[228000],,,,,Farber disease,TRUE,FALSE,Active +GARD:6427,Active,Orphanet,ORPHA:99906,Disorder,[Disease],Farmer's lung disease,,"Farmer's lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly saccharopolyspora rectivirgula, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course",,,,,,Farmer's lung,TRUE,FALSE,Active +GARD:6428,Legacy,GARD,,,,,,,,,,,,Fascioliasis,TRUE,FALSE,Active +GARD:6429,Active,Orphanet,ORPHA:466,Disorder,[Disease],Fatal familial insomnia,,"A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.",[600072],,,,,Fatal familial insomnia,TRUE,FALSE,Active +GARD:6430,Legacy,GARD,,,,,,,,,,,,Nonalcoholic steatohepatitis,FALSE,FALSE,Active +GARD:6431,Legacy,GARD,,,,,,,,,,,,Fazio-Londe syndrome,TRUE,FALSE,Retired +GARD:6435,Active,Orphanet,ORPHA:1912,Disorder,[Malformation syndrome],Fetal hydantoin syndrome,"[Fetal dihydantoin syndrome, Phenytoin embryofetopathy]","A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.",,,,,,Fetal hydantoin syndrome,TRUE,FALSE,Active +GARD:6439,Legacy,GARD,,,,,,,,,,,,Fibromatosis,FALSE,FALSE,Active +GARD:6444,Active,Orphanet,ORPHA:249,Disorder,[Malformation syndrome],Fibrous dysplasia of bone,,"A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.",,,,,,Fibrous dysplasia,TRUE,FALSE,Active +GARD:6445,Active,Orphanet,ORPHA:337,Disorder,[Disease],Fibrodysplasia ossificans progressiva,"[FOP, Myositis ossificans progressiva, Stone man syndrome]",Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.,[135100],,,,,Fibrodysplasia ossificans progressiva,TRUE,FALSE,Active +GARD:6447,Active,Orphanet,ORPHA:468726,Disorder,[Disease],Severe primary trimethylaminuria,[TMAU],"A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.",[602079],,,,,Trimethylaminuria,TRUE,FALSE,Active +GARD:645,Active,Orphanet,ORPHA:100031,Subtype of disorder,[Clinical subtype],Hypoplastic amelogenesis imperfecta,[Amelogenesis imperfecta type 1],,"[616221, 617297, 616270, 301201, 104500, 104530, 204650]",,,,,Amelogenesis imperfecta local hypoplastic,TRUE,FALSE,Active +GARD:6450,Active,Orphanet,ORPHA:79292,Subtype of disorder,[Clinical subtype],Fish-eye disease,"[FED, Partial LCAT deficiency]","Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.",[136120],,,,,Fish-eye disease,TRUE,FALSE,Active +GARD:6452,Legacy,GARD,,,,,,,,,,,,Fitz-Hugh-Curtis syndrome,TRUE,FALSE,Active +GARD:6453,Legacy,GARD,,,,,,,,,,,,Flavimonas oryzihabitans infection,TRUE,FALSE,Active +GARD:6454,Legacy,GARD,,,,,,,,,,,,Necrotizing fasciitis,TRUE,FALSE,Active +GARD:6455,Active,Orphanet,ORPHA:2044,Disorder,[Malformation syndrome],Floating-Harbor syndrome,,"A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.",[136140],,,,,Floating-Harbor syndrome,TRUE,FALSE,Active +GARD:6457,Active,Orphanet,ORPHA:2092,Disorder,[Malformation syndrome],Focal dermal hypoplasia,"[Goltz syndrome, Goltz-Gorlin syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.",[305600],,,,,Focal dermal hypoplasia,TRUE,FALSE,Active +GARD:6458,Legacy,GARD,,,,,,,,,,,,Focal task-specific dystonia,TRUE,FALSE,Active +GARD:646,Active,Orphanet,ORPHA:1031,Disorder,[Malformation syndrome],Enamel-renal syndrome,[Amelogenesis imperfecta-nephrocalcinosis syndrome],"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.",[204690],,,,,Amelogenesis imperfecta nephrocalcinosis,TRUE,FALSE,Active +GARD:6460,Legacy,GARD,,,,,,,,,,,,Diffuse idiopathic skeletal hyperostosis,FALSE,FALSE,Active +GARD:6462,Legacy,GARD,,,,,,,,,,,,Fox-Fordyce disease,TRUE,FALSE,Active +GARD:6463,Legacy,GARD,,,,,,,,,,,,Hypothalamic obesity,TRUE,FALSE,Active +GARD:6464,Active,Orphanet,ORPHA:908,Disorder,[Malformation syndrome],Fragile X syndrome,"[FRAXA syndrome, FXS, FraX syndrome, Martin-Bell syndrome]","A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.","[311360, 300624]",,,,,Fragile X syndrome,TRUE,FALSE,Active +GARD:6465,Active,Orphanet,ORPHA:2052,Disorder,[Malformation syndrome],Fraser syndrome,[Cryptophthalmos-syndactyly syndrome],"A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.","[617666, 219000, 617667]",,,,,Fraser syndrome,TRUE,FALSE,Active +GARD:6466,Active,Orphanet,ORPHA:2053,Disorder,[Malformation syndrome],Freeman-Sheldon syndrome,"[Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Distal arthrogryposis type 2A, Freeman-Burian syndrome, Whistling face syndrome]","A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.","[193700, 618436, 616266, 277720]",,,,,Freeman-Sheldon syndrome,TRUE,FALSE,Active +GARD:6467,Legacy,GARD,,,,,,,,,,,,Frey's syndrome,TRUE,FALSE,Active +GARD:6468,Active,Orphanet,ORPHA:95,Disorder,[Disease],Friedreich ataxia,"[FA, FRDA]","Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.","[601992, 229300]",,,,,Friedreich ataxia,TRUE,FALSE,Active +GARD:647,Active,Orphanet,ORPHA:1028,Disorder,[Malformation syndrome],Amelo-onycho-hypohidrotic syndrome,"[Ameloonychohypohidrotic ectodermal dysplasia, Ameloonychohypohidrotic syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.",[104570],,,,,Ameloonychohypohidrotic syndrome,TRUE,FALSE,Active +GARD:6471,Active,Orphanet,ORPHA:2056,Disorder,[Disease],Essential fructosuria,"[Fructokinase deficiency, Ketohexokinase deficiency]","Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.",[229800],,,,,Essential fructosuria,FALSE,FALSE,Active +GARD:6473,Active,Orphanet,ORPHA:349,Disorder,[Disease],Fucosidosis,[Alpha-L-fucosidase deficiency],"Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.",[230000],,,,,Fucosidosis,TRUE,FALSE,Active +GARD:6474,Legacy,GARD,,,,,,,,,,,,Fucosidosis type 1,TRUE,FALSE,Retired +GARD:6475,Active,Orphanet,ORPHA:272,Disorder,[Malformation syndrome],"Congenital muscular dystrophy, Fukuyama type","[FCMD, FKTN-related congenital muscular dystrophy, Fukuyama congenital muscular dystrophy]","Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.",[253800],,,,,Fukuyama type muscular dystrophy,TRUE,FALSE,Active +GARD:6476,Active,Orphanet,ORPHA:24,Disorder,[Disease],Fumaric aciduria,[Fumarase deficiency],"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.",[606812],,,,,Fumarase deficiency,TRUE,FALSE,Active +GARD:6479,Active,Orphanet,ORPHA:79255,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 1,"[Infantile GM1 gangliosidosis, Norman-Landing disease]",GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.,[230500],,,,,GM1 gangliosidosis type 1,TRUE,FALSE,Active +GARD:6481,Active,Orphanet,ORPHA:324636,Disorder,[Disease],Autoerythrocyte sensitization syndrome,"[GDS, Gardner-Diamond syndrome, Painful bruising syndrome, Psychogenic purpura]","A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.",,,,,,Gardner-Diamond syndrome,TRUE,FALSE,Active +GARD:6482,Active,Orphanet,ORPHA:79665,Subtype of disorder,[Clinical subtype],Gardner syndrome,,Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.,[175100],,,,,Gardner syndrome,TRUE,FALSE,Active +GARD:6484,Legacy,GARD,,,,,,,,,,,,Gas bloat syndrome,TRUE,FALSE,Active +GARD:6485,Active,Orphanet,ORPHA:52417,Disorder,[Disease],MALT lymphoma,"[Extranodal marginal zone B-cell lymphoma, MALToma, Mucosa-associated lymphatic tissue lymphoma, Mucosa-associated lymphoid tissue lymphoma]","MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.",[137245],,,,,Gastric lymphoma,TRUE,FALSE,Active +GARD:6491,Legacy,GARD,,,,,,,,,,,,Generalized torsion dystonia,TRUE,FALSE,Retired +GARD:6493,Legacy,GARD,,,,,,,,,,,,Geographic tongue,FALSE,FALSE,Active +GARD:6497,Active,Orphanet,ORPHA:63275,Disorder,[Disease],Pemphigoid gestationis,[Gestational pemphigoid],"A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruption, affecting pregnant women typically during the second and third trimester.",,,,,,Pemphigoid gestationis,TRUE,FALSE,Active +GARD:6498,Active,Orphanet,ORPHA:59305,Group of disorders,[Clinical group],Gestational trophoblastic neoplasm,[GTN],"A rare, malignant group of gestational trophoblastic diseases always following pregnancy, most often molar pregnancy (hydatidiform mole). Four histological forms are described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT).",,,,,,Gestational trophoblastic tumor,TRUE,FALSE,Active +GARD:6499,Legacy,GARD,,,,,,,,,,,,Gianotti Crosti syndrome,TRUE,FALSE,Active +GARD:65,Active,Orphanet,ORPHA:2065,Disorder,[Malformation syndrome],Galloway-Mowat syndrome,"[Galloway syndrome, Microcephaly-hiatus hernia-nephrotic syndrome, Nephrosis-neuronal dysmigration syndrome]","A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.","[618348, 301006, 618349, 617731, 251300, 617729, 617730, 618347]",,,,,Galloway-Mowat syndrome,TRUE,FALSE,Active +GARD:6500,Active,Orphanet,ORPHA:643,Disorder,[Disease],Giant axonal neuropathy,[GAN],"Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.",[256850],,,,,Giant axonal neuropathy,TRUE,FALSE,Active +GARD:6502,Legacy,GARD,,,,,,,,,,,,Giant cell myocarditis,TRUE,FALSE,Active +GARD:6506,Active,Orphanet,ORPHA:99725,Disorder,[Disease],Pituitary gigantism,"[Hypophyseal gigantism, Infantile and juvenile forms of acromegaly]","A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.",[102200],,,,,Gigantism,TRUE,FALSE,Active +GARD:6507,Legacy,GARD,,,,,,,,,,,,Gilbert syndrome,FALSE,FALSE,Active +GARD:6509,Active,Orphanet+OMIM,OMIM:135300,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 1","[fibromatosis, gingival, hereditary, ggf1, Gingf]","Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by {7:Hart et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Gingival Fibromatosis\n\nOther loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; {605544}), chromosome 2p23.3-p22.3 (GINGF3; {609955}), and chromosome 11p15 (GINGF4; {611010}). GINGF5 ({617626}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).",[135300],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 1",TRUE,FALSE,Active +GARD:6513,Active,Orphanet,ORPHA:182067,Group of disorders,[Clinical group],Glial tumor,[Glioma],,"[613031, 137800, 613028, 613032, 613029, 607248, 613033, 613030]",,,,,Glioma,TRUE,FALSE,Active +GARD:6514,Active,Orphanet,ORPHA:251582,Disorder,[Disease],Gliomatosis cerebri,,"A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.",,,,,,Gliomatosis cerebri,TRUE,FALSE,Active +GARD:6516,Legacy,GARD,,,,,,,,,,,,Glomerulonephritis,TRUE,FALSE,Active +GARD:6517,Legacy,GARD,,,,,,,,,,,,Focal segmental glomerulosclerosis,TRUE,FALSE,Active +GARD:6518,Legacy,GARD,,,,,,,,,,,,Glossodynia,TRUE,FALSE,Active +GARD:6519,Active,Orphanet,ORPHA:221098,Disorder,[Disease],Glossopharyngeal neuralgia,,"A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.",,,,,,Glossopharyngeal neuralgia,TRUE,FALSE,Active +GARD:652,Legacy,GARD,,,,,,,,,,,,Amebiasis,TRUE,FALSE,Active +GARD:6520,Active,Orphanet,ORPHA:466026,Disorder,[Disease],Class I glucose-6-phosphate dehydrogenase deficiency,"[Class I G6PD deficiency, Severe hemolytic anemia due to G6PD deficiency]","A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.",[300908],,,,,Glucose-6-phosphate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:6521,Active,Orphanet,ORPHA:35710,Disorder,[Disease],Glucose-galactose malabsorption,[SGLT1 deficiency],"Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.",[606824],,,,,Glucose-galactose malabsorption,TRUE,FALSE,Active +GARD:6522,Active,Orphanet,ORPHA:25,Disorder,[Disease],Glutaryl-CoA dehydrogenase deficiency,"[GA1, GCDHD, Glutaric acidemia type 1, Glutaric aciduria type 1, Glutaryl-coenzyme A dehydrogenase deficiency]",Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.,[231670],,,,,Glutaric acidemia type I,TRUE,FALSE,Active +GARD:6523,Active,Orphanet,ORPHA:26791,Disorder,[Disease],Multiple acyl-CoA dehydrogenase deficiency,"[Glutaric acidemia type 2, Glutaric aciduria type 2, MAD deficiency, MADD]","Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.",[231680],,,,,Glutaric acidemia type II,TRUE,FALSE,Active +GARD:6528,Active,Orphanet,ORPHA:368,Disorder,[Disease],Glycogen storage disease due to muscle glycogen phosphorylase deficiency,"[GSD due to muscle glycogen phosphorylase deficiency, GSD type 5, GSD type V, Glycogen storage disease type 5, Glycogen storage disease type V, Glycogenosis due to muscle glycogen phosphorylase deficiency, Glycogenosis type 5, Glycogenosis type V, McArdle disease, Myophosphorylase deficiency]","Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.",[232600],,,,,Glycogen storage disease type 5,TRUE,FALSE,Active +GARD:6529,Active,Orphanet,ORPHA:369,Disorder,[Disease],Glycogen storage disease due to liver glycogen phosphorylase deficiency,"[GSD due to liver glycogen phosphorylase deficiency, GSD type 6, GSD type VI, Glycogen storage disease type 6, Glycogen storage disease type VI, Glycogenosis due to liver glycogen phosphorylase deficiency, Glycogenosis type 6, Glycogenosis type VI, Hepatic glycogen phosphorylase deficiency, Hepatic phosphorylase deficiency, Hers disease, Liver glycogen phosphorylase deficiency]","Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.",[232700],,,,,Glycogen storage disease type 6,TRUE,FALSE,Active +GARD:6538,Legacy,GARD,,,,,,,,,,,,Glycogen storage disease 8,TRUE,FALSE,Active +GARD:654,Active,Orphanet,ORPHA:1035,Disorder,[Biological anomaly],Beta-mercaptolactate cysteine disulfiduria,"[3-mercaptopyruvate sulfurtransferase deficiency, Ampola syndrome, MCDU]","An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.",[249650],,,,,Ampola syndrome,TRUE,FALSE,Active +GARD:6540,Legacy,GARD,,,,,,,,,,,,Goldenhar disease,TRUE,FALSE,Active +GARD:6542,Active,Orphanet,ORPHA:73,Disorder,[Malformation syndrome],Gorham-Stout disease,"[Gorham disease, Gorham syndrome, Idiopathic massive osteolysis, Progressive massive osteolysis, Vanishing bone disease]",Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.,[123880],,,,,Gorham's disease,TRUE,FALSE,Active +GARD:6543,Active,Orphanet,ORPHA:2500,Disorder,[Malformation syndrome],Acrogeria,"[Acrogeria, Gottron type, Acrometageria, Gottron syndrome]","A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.",[201200],,,,,"Acrogeria, Gottron type",TRUE,FALSE,Active +GARD:6544,Active,Orphanet,ORPHA:99920,Subtype of disorder,[Clinical subtype],Acute graft versus host disease,,,,,,,,Acute graft versus host disease,TRUE,FALSE,Active +GARD:6545,Legacy,GARD,,,,,,,,,,,,Granulocytopenia,TRUE,FALSE,Active +GARD:6546,Legacy,GARD,,,,,,,,,,,,Granuloma annulare,TRUE,FALSE,Active +GARD:6547,Legacy,GARD,,,,,,,,,,,,Granulomatous hypophysitis,TRUE,FALSE,Active +GARD:6548,Legacy,GARD,,,,,,,,,,,,Granulomatous rosacea,TRUE,FALSE,Active +GARD:6549,Legacy,GARD,,,,,,,,,,,,Graves disease,FALSE,FALSE,Active +GARD:6550,Active,Orphanet,ORPHA:380,Disorder,[Malformation syndrome],Greig cephalopolysyndactyly syndrome,[GCPS],"A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.",[175700],,,,,Greig cephalopolysyndactyly syndrome,TRUE,FALSE,Active +GARD:6551,Legacy,GARD,,,,,,,,,,,,Grover's disease,FALSE,FALSE,Active +GARD:6552,Legacy,GARD,,,,,,,,,,,,Growth hormone deficiency,TRUE,FALSE,Active +GARD:6554,Active,Orphanet,ORPHA:2103,Group of disorders,[Clinical group],Guillain-Barré syndrome,"[GBS, Guillain-Barré-Strohl syndrome]","A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.",,,,,,Guillain-Barre syndrome,TRUE,FALSE,Active +GARD:6556,Active,Orphanet,ORPHA:414,Disorder,[Disease],Gyrate atrophy of choroid and retina,"[HOGA, Hyperornithinemia, Hyperornithinemia-gyrate atrophy of choroid and retina syndrome, Ornithine aminotransferase deficiency]","Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.",[258870],,,,,Gyrate atrophy of choroid and retina,TRUE,FALSE,Active +GARD:6557,Legacy,GARD,,,,,,,,,,,,Hemangioendothelioma,TRUE,FALSE,Active +GARD:6558,Active,Orphanet,ORPHA:330,Disorder,[Disease],Congenital factor XII deficiency,[Congenital Hageman factor deficiency],"A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.",[234000],,,,,Factor XII deficiency,TRUE,FALSE,Active +GARD:6559,Active,Orphanet,ORPHA:2841,Disorder,[Disease],Familial benign chronic pemphigus,"[Benign chronic familial pemphigus of Hailey-Hailey, Hailey-Hailey disease]","Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).",[169600],,,,,Hailey-Hailey disease,TRUE,FALSE,Active +GARD:656,Legacy,GARD,,,,,,,,,,,,Familial transthyretin amyloidosis,TRUE,FALSE,Active +GARD:6560,Active,Orphanet,ORPHA:58017,Disorder,[Disease],Classic hairy cell leukemia,"[HCL-C, Leukemic reticuloendotheliosis]","A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.",,,,,,Hairy cell leukemia,TRUE,FALSE,Active +GARD:6561,Legacy,GARD,,,,,,,,,,,,Black hairy tongue,FALSE,FALSE,Active +GARD:6562,Legacy,GARD,,,,,,,,,,,,Hajdu-Cheney syndrome,TRUE,FALSE,Retired +GARD:6564,Active,Orphanet,ORPHA:157850,Disorder,[Disease],Pantothenate kinase-associated neurodegeneration,"[Hallervorden-Spatz syndrome, NBIA1, Neurodegeneration with brain iron accumulation type 1, PKAN]","Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.",[234200],,,,,Pantothenate kinase-associated neurodegeneration,TRUE,FALSE,Active +GARD:6567,Legacy,GARD,,,,,,,,,,,,Hand-Schuller-Christian disease,TRUE,FALSE,Retired +GARD:6568,Active,Orphanet,ORPHA:457,Disorder,[Disease],Harlequin ichthyosis,"[HI, Ichthyosis congenita, Harlequin type, Ichthyosis fetalis, Harlequin type]","Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.",[242500],,,,,Harlequin ichthyosis,TRUE,FALSE,Active +GARD:6569,Active,Orphanet,ORPHA:2116,Disorder,[Disease],Hartnup disease,"[Aminoaciduria, Hartnup type, Hartnup disorder]","A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).",[234500],,,,,Hartnup disease,TRUE,FALSE,Active +GARD:657,Legacy,GARD,,,,,,,,,,,,Amyloidosis of gingiva and conjunctiva with intellectual disability,TRUE,FALSE,Active +GARD:6570,Legacy,GARD,,,,,,,,,,,,Hashimoto's syndrome,FALSE,FALSE,Active +GARD:6571,Active,Orphanet,ORPHA:1071,Disorder,[Malformation syndrome],Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,"[AEC syndrome, Hay-Wells syndrome]","An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.",[106260],,,,,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,TRUE,FALSE,Active +GARD:6577,Legacy,GARD,,,,,,,,,,,,Heavy metal poisoning,TRUE,FALSE,Active +GARD:6578,Legacy,GARD,,,,,,,,,,,,Helminthiasis,TRUE,FALSE,Active +GARD:6582,Legacy,GARD,,,,,,,,,,,,Hemifacial microsomia,TRUE,FALSE,Active +GARD:6583,Legacy,GARD,,,,,,,,,,,,Hemiplegia,FALSE,FALSE,Draft +GARD:6584,Active,Orphanet,ORPHA:251365,Disorder,[Disease],Sickle cell-hemoglobin C disease syndrome,[HbSC disease],"A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.",,,,,,Hemoglobin SC disease,TRUE,FALSE,Active +GARD:6588,Active,Orphanet,ORPHA:90038,Subtype of disorder,[Clinical subtype],Shiga toxin-associated hemolytic uremic syndrome,"[D+ HUS, EHEC-HUS, Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli, Hemolytic uremic syndrome with diarrhea, STEC-HUS, Shiga-like toxin-associated HUS, Stx-HUS, Typical HUS, Typical hemolytic uremic syndrome]","A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.",[235400],,,,,Hemolytic uremic syndrome,TRUE,FALSE,Active +GARD:6589,Active,Orphanet,ORPHA:540,Disorder,[Disease],Familial hemophagocytic lymphohistiocytosis,[Familial HLH],Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.,"[603553, 618998, 613101, 608898, 267700, 603552]",,,,,Familial hemophagocytic lymphohistiocytosis,TRUE,FALSE,Active +GARD:6590,Legacy,GARD,,,,,,,,,,,,Hemophagocytic reticulosis,TRUE,FALSE,Active +GARD:6591,Active,Orphanet,ORPHA:98878,Disorder,[Disease],Hemophilia A,"[Congenital F8 deficiency, Congenital FVIII deficiency, Congenital Factor VIII deficiency]",A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.,[306700],,,,,Hemophilia A,TRUE,FALSE,Active +GARD:6592,Legacy,GARD,,,,,,,,,,,,Hemophilic arthropathy,TRUE,FALSE,Active +GARD:6593,Legacy,GARD,,,,,,,,,,,,Hemorrhagic fever,TRUE,FALSE,Retired +GARD:6594,Active,Orphanet,ORPHA:3318,Disorder,[Disease],Essential thrombocythemia,"[ET, Essential thrombocytosis]","Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.","[614521, 187950, 601977]",,,,,Essential thrombocythemia,TRUE,FALSE,Active +GARD:6595,Legacy,GARD,,,,,,,,,,,,Hemosiderosis,TRUE,FALSE,Active +GARD:6597,Legacy,GARD,,,,,,,,,,,,Hepadnavirus infection,TRUE,FALSE,Retired +GARD:66,Active,Orphanet,ORPHA:2095,Disorder,[Malformation syndrome],Gorlin-Chaudhry-Moss syndrome,"[Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome, Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome, Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome, GCM syndrome]","Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.",[612289],,,,,Gorlin Chaudhry Moss syndrome,TRUE,FALSE,Active +GARD:660,Legacy,GARD,,,,,,,,,,,,Amyoplasia mandibulofacial dysostosis,TRUE,FALSE,Retired +GARD:6608,Active,Orphanet,ORPHA:210159,Disorder,[Disease],Adult hepatocellular carcinoma,[Adult HCC],"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.",[114550],,,,,Primary liver cancer,TRUE,FALSE,Active +GARD:6610,Legacy,GARD,,,,,,,,,,,,Hepatorenal syndrome,TRUE,FALSE,Active +GARD:6611,Active,Orphanet,ORPHA:444116,Group of disorders,[Category],Hereditary amyloidosis,,,,,,,,Hereditary amyloidosis,TRUE,FALSE,Active +GARD:6614,Legacy,GARD,,,,,,,,,,,,Hereditary ataxia,TRUE,FALSE,Active +GARD:6616,Legacy,GARD,,,,,,,,,,,,Myopathic carnitine deficiency,TRUE,FALSE,Active +GARD:6618,Active,Orphanet,ORPHA:228357,Subtype of disorder,[Etiological subtype],CLN9 disease,,,[609055],,,,,Neuronal ceroid lipofuscinosis 9,TRUE,FALSE,Active +GARD:6619,Active,Orphanet,ORPHA:79273,Disorder,[Disease],Hereditary coproporphyria,,"Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.",[121300],,,,,Hereditary coproporphyria,TRUE,FALSE,Active +GARD:6621,Active,Orphanet,ORPHA:288,Disorder,[Disease],Hereditary elliptocytosis,[HE],Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.,"[611804, 617948, 130600, 235370]",,,,,Hereditary elliptocytosis,TRUE,FALSE,Active +GARD:6622,Active,Orphanet,ORPHA:469,Disorder,[Disease],Hereditary fructose intolerance,"[Hereditary fructose-1-phosphate aldolase deficiency, Hereditary fructosemia]","Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.",[229600],,,,,Hereditary fructose intolerance,TRUE,FALSE,Active +GARD:6626,Active,Orphanet,ORPHA:774,Disorder,[Disease],Hereditary hemorrhagic telangiectasia,"[HHT, Rendu-Osler disease, Rendu-Osler-Weber disease]",An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.,"[601101, 187300, 600376, 610655, 615506]",,,,,Hereditary hemorrhagic telangiectasia,TRUE,FALSE,Active +GARD:6627,Legacy,GARD,,,,,,,,,,,,Hereditary hyperuricemia,TRUE,FALSE,Retired +GARD:6632,Active,Orphanet,ORPHA:676,Disorder,[Disease],Hereditary chronic pancreatitis,,"A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.",[167800],,,,,Hereditary pancreatitis,TRUE,FALSE,Active +GARD:6633,Legacy,GARD,,,,,,,,,,,,Hereditary paroxysmal cerebral ataxia,TRUE,FALSE,Retired +GARD:6634,Legacy,GARD,,,,,,,,,,,,Hereditary peripheral nervous disorder,TRUE,FALSE,Retired +GARD:6635,Active,Orphanet,ORPHA:36386,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 1,"[HSAN1, Hereditary sensory and autonomic neuropathy type I]","Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.","[615632, 162400, 613708, 613640]",,,,,Hereditary sensory neuropathy type 1,TRUE,FALSE,Active +GARD:6637,Active,Orphanet,ORPHA:685,Group of disorders,[Clinical group],Hereditary spastic paraplegia,"[Familial spastic paraplegia, HSP, Hereditary spastic paraparesis, SPG, Strümpell-Lorrain disease]","A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.",,,,,,Hereditary spastic paraplegia,TRUE,FALSE,Active +GARD:6639,Active,Orphanet,ORPHA:822,Disorder,[Disease],Hereditary spherocytosis,[Minkowski-Chauffard disease],"Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.","[612653, 616649, 612690, 182900, 270970]",,,,,Hereditary spherocytosis,TRUE,FALSE,Active +GARD:664,Active,Orphanet,ORPHA:142,Disorder,[Disease],Anaplastic thyroid carcinoma,,A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.,,,,,,Anaplastic thyroid cancer,TRUE,FALSE,Active +GARD:6640,Legacy,GARD,,,,,,,,,,,,Hereditary type 1 neuropathy,TRUE,FALSE,Retired +GARD:6641,Legacy,GARD,,,,,,,,,,,,Hereditary type 2 neuropathy,TRUE,FALSE,Retired +GARD:6643,Active,Orphanet,ORPHA:79430,Disorder,[Disease],Hermansky-Pudlak syndrome,[HPS],"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.","[614072, 203300, 614171, 619172, 614073, 614076, 608233, 614077, 614074, 617050, 614075]",,,,,Hermansky-Pudlak syndrome,TRUE,FALSE,Active +GARD:6649,Active,Orphanet,ORPHA:1930,Disorder,[Disease],Herpes simplex virus encephalitis,"[HSE, HSV encephalitis, HSVE, Herpes simplex meningo-encephalitis, Herpes simplex neuroinvasion, Herpetic encephalitis]","A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.","[610551, 614849, 613002, 614850, 617900, 616532]",,,,,Herpes simplex encephalitis,TRUE,FALSE,Active +GARD:6654,Legacy,GARD,,,,,,,,,,,,Herpesvirus simiae B virus infection,TRUE,FALSE,Active +GARD:6657,Active,Orphanet,ORPHA:396,Disorder,[Disease],Chronic hiccup,,Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.,,,,,,Chronic hiccups,TRUE,FALSE,Active +GARD:6658,Legacy,GARD,,,,,,,,,,,,Hidradenitis suppurativa,FALSE,FALSE,Active +GARD:6659,Legacy,GARD,,,,,,,,,,,,Developmental dysplasia of hip,FALSE,FALSE,Active +GARD:6660,Active,Orphanet,ORPHA:388,Disorder,[Disease],Hirschsprung disease,"[Aganglionic megacolon, Colonic aganglionosis, Congenital intestinal aganglionosis, HSCR]",A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.,"[600156, 142623, 611644, 608462, 606875, 606874, 613711, 600155, 613712]",,,,,Hirschsprung disease,TRUE,FALSE,Active +GARD:6661,Active,Orphanet,ORPHA:2157,Disorder,[Disease],Histidinemia,"[HAL deficiency, HIS deficiency, Histidase deficiency, Histidine ammonia-lyase deficiency, Histidinuria, Hyperhistidinemia]","Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.",[235800],,,,,Histidinemia,TRUE,FALSE,Active +GARD:6665,Active,Orphanet,ORPHA:2162,Disorder,[Malformation syndrome],Holoprosencephaly,[HPE],"A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.","[605934, 609637, 610828, 612530, 614226, 610829, 142945, 236100, 142946, 147250, 157170, 609408]",,,,,Holoprosencephaly,TRUE,FALSE,Active +GARD:6666,Active,Orphanet,ORPHA:392,Disorder,[Malformation syndrome],Holt-Oram syndrome,"[Atriodigital dysplasia type 1, HOS, Heart-hand syndrome type 1]",A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.,[142900],,,,,Holt-Oram syndrome,TRUE,FALSE,Active +GARD:6667,Active,Orphanet,ORPHA:394,Disorder,[Disease],Classic homocystinuria,"[Cystathionine beta-synthase deficiency, Homocystinuria due to cystathionine beta-synthase deficiency]","Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.",[236200],,,,,Homocystinuria due to CBS deficiency,TRUE,FALSE,Active +GARD:6668,Legacy,GARD,,,,,,,,,,,,Homologous wasting disease,TRUE,FALSE,Active +GARD:667,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia,FALSE,FALSE,Active +GARD:6670,Active,Orphanet,ORPHA:91413,Disorder,[Disease],Congenital Horner syndrome,[Congenital Claude-Bernard-Horner syndrome],"Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.",[143000],,,,,Horner's syndrome,TRUE,FALSE,Active +GARD:6675,Active,Orphanet,ORPHA:580,Disorder,[Disease],Mucopolysaccharidosis type 2,"[Hunter syndrome, Iduronate 2-sulfatase deficiency, MPS2, MPSII, Mucopolysaccharidosis type II]","A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.",[309900],,,,,Mucopolysaccharidosis type II,TRUE,FALSE,Active +GARD:6677,Active,Orphanet,ORPHA:399,Disorder,[Disease],Huntington disease,[Huntington chorea],"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.",[143100],,,,,Huntington disease,TRUE,FALSE,Active +GARD:668,Active,Orphanet,ORPHA:2802,Disorder,[Disease],X-linked sideroblastic anemia and spinocerebellar ataxia,"[Pagon-Bird-Detter syndrome, X-linked sideroblastic anemia with ataxia, XLSA-A]","A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.",[301310],,,,,Anemia sideroblastic and spinocerebellar ataxia,TRUE,FALSE,Active +GARD:6681,Active,Orphanet,ORPHA:2177,Disorder,[Malformation syndrome],Hydranencephaly,,"A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.",,,,,,Hydranencephaly,TRUE,FALSE,Active +GARD:6682,Active,Orphanet,ORPHA:2185,Disorder,[Malformation syndrome],Congenital hydrocephalus,,A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.,"[236600, 615219]",,,,,Congenital hydrocephalus,TRUE,FALSE,Active +GARD:6683,Active,Orphanet,ORPHA:2189,Disorder,[Malformation syndrome],Hydrolethalus,,"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.","[614120, 236680]",,,,,Hydrolethalus syndrome,TRUE,FALSE,Active +GARD:6684,Legacy,GARD,,,,,,,,,,,,Hyper-reninism,TRUE,FALSE,Retired +GARD:669,Legacy,GARD,,,,,,,,,,,,Anencephaly and spina bifida X-linked,TRUE,FALSE,Active +GARD:6692,Legacy,GARD,,,,,,,,,,,,Hypercementosis,TRUE,FALSE,Active +GARD:67,Legacy,GARD,,,,,,,,,,,,"Gouty nephropathy, familial",TRUE,FALSE,Retired +GARD:670,Active,Orphanet,ORPHA:1054,Disorder,[Morphological anomaly],Aneurysm of sinus of Valsalva,,"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.",,,,,,Aneurysm of sinus of Valsalva,TRUE,FALSE,Active +GARD:6702,Legacy,GARD,,,,,,,,,,,,Hyperlipoproteinemia type 2,FALSE,FALSE,Retired +GARD:6703,Active,Orphanet,ORPHA:412,Disorder,[Disease],Dysbetalipoproteinemia,"[Broad-beta disease, Familial dyslipidemia type 3, HLP type 3, Hyperlipidemia type 3, Hyperlipoproteinemia type 3, Remnant hyperlipoproteinemia]","A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.",[617347],,,,,Hyperlipidemia type 3,TRUE,FALSE,Active +GARD:6704,Active,Orphanet,ORPHA:530849,Subtype of disorder,[Etiological subtype],Familial apolipoprotein A5 deficiency,"[Familial APOA5 deficiency, Familial apolipoprotein A-V deficiency]",,[144650],,,,,Hyperlipoproteinemia type 5,TRUE,FALSE,Active +GARD:671,Active,Orphanet,ORPHA:63442,Disorder,[Malformation syndrome],Angel-shaped phalango-epiphyseal dysplasia,[ASPED],"A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.",[105835],,,,,Angel shaped phalangoepiphyseal dysplasia,TRUE,FALSE,Active +GARD:6710,Active,Orphanet,ORPHA:79101,Disorder,[Disease],Hyperprolinemia type 2,[Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency],"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.",[239510],,,,,Hyperprolinemia type 2,TRUE,FALSE,Active +GARD:6717,Legacy,GARD,,,,,,,,,,,,Hypertrophic branchial myopathy,TRUE,FALSE,Active +GARD:672,Legacy,GARD,,,,,,,,,,,,Angiofollicular ganglionic hyperplasia,TRUE,FALSE,Retired +GARD:6722,Legacy,GARD,,,,,,,,,,,,Hypoadrenalism,TRUE,FALSE,Retired +GARD:6724,Active,Orphanet,ORPHA:429,Disorder,[Disease],Hypochondroplasia,,"A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.",[146000],,,,,Hypochondroplasia,TRUE,FALSE,Active +GARD:6725,Active,Orphanet,ORPHA:36412,Disorder,[Disease],Hypocomplementemic urticarial vasculitis,"[Anti-C1q vasculitis, Mac Duffie hypocomplementemic urticarial vasculitis, Mac Duffie syndrome, McDuffie hypocomplementemic urticarial vasculitis, McDuffie syndrome]","A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.",,,,,,Hypocomplementemic urticarial vasculitis,TRUE,FALSE,Active +GARD:6729,Active,Orphanet,ORPHA:681,Disorder,[Disease],Hypokalemic periodic paralysis,[Westphall disease],"A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.","[613345, 170400]",,,,,Hypokalemic periodic paralysis,TRUE,FALSE,Active +GARD:673,Legacy,GARD,,,,,,,,,,,,Angiofollicular lymph hyperplasia,TRUE,FALSE,Retired +GARD:6730,Legacy,GARD,,,,,,,,,,,,Hypoketonemic hypoglycemia,TRUE,FALSE,Retired +GARD:6731,Legacy,GARD,,,,,,,,,,,,Hypomelanotic disorder,TRUE,FALSE,Active +GARD:6733,Legacy,GARD,,,,,,,,,,,,Hypoparathyroidism,TRUE,FALSE,Active +GARD:6734,Active,Orphanet,ORPHA:436,Disorder,[Disease],Hypophosphatasia,"[HPP, Phosphoethanolaminuria, Rathbun disease]","A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.","[241500, 241510, 146300]",,,,,Hypophosphatasia,TRUE,FALSE,Active +GARD:6735,Active,Orphanet,ORPHA:437,Group of disorders,[Clinical group],Hypophosphatemic rickets,,"A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.",,,,,,Hypophosphatemic rickets,TRUE,FALSE,Active +GARD:6737,Active,Orphanet+OMIM,OMIM:312000,Subtype of disorder,[Disease subtype],"Panhypopituitarism, x-linked","[Pituitary dwarfism iv, formerly]",,[312000],[90695],[Non-acquired panhypopituitarism],[15020],,Panhypopituitarism X-linked,TRUE,FALSE,Active +GARD:6738,Legacy,GARD,,,,,,,,,,,,Hypoplasia of the tibia with polydactyly,TRUE,FALSE,Active +GARD:6739,Active,Orphanet,ORPHA:2248,Disorder,[Morphological anomaly],Hypoplastic left heart syndrome,[HLHS],"A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.","[241550, 614435]",,,,,Hypoplastic left heart syndrome,TRUE,FALSE,Active +GARD:674,Legacy,GARD,,,,,,,,,,,,Angiokeratoma mental retardation coarse face,TRUE,FALSE,Retired +GARD:6740,Legacy,GARD,,,,,,,,,,,,Hyporeninemic hypoaldosteronism,TRUE,FALSE,Retired +GARD:6749,Active,Orphanet,ORPHA:576,Disorder,[Disease],Mucolipidosis type II,"[I-cell disease, Mucolipidosis type II alpha/beta, N-acetylglucosamine 1-phosphotransferase deficiency]","A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.",[252500],,,,,I cell disease,TRUE,FALSE,Active +GARD:6752,Legacy,GARD,,,,,,,,,,,,Ichthyosis vulgaris,TRUE,FALSE,Active +GARD:6755,Legacy,GARD,,,,,,,,,,,,Idiopathic alveolar hypoventilation syndrome,TRUE,FALSE,Active +GARD:6757,Active,Orphanet,ORPHA:1676,Disorder,[Disease],Idiopathic pulmonary artery dilatation,,"Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.",,,,,,Idiopathic dilatation of the pulmonary artery,TRUE,FALSE,Active +GARD:6759,Legacy,GARD,,,,,,,,,,,,Idiopathic edema,FALSE,FALSE,Active +GARD:676,Active,Orphanet,ORPHA:1062,Disorder,[Disease],Hereditary neurocutaneous malformation,,"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.",[106070],,,,,Angioma hereditary neurocutaneous,TRUE,FALSE,Active +GARD:6760,Active,Orphanet,ORPHA:85193,Disorder,[Malformation syndrome],Idiopathic juvenile osteoporosis,"[IJO, Juvenile osteoporosis]","Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.","[259750, 615221]",,,,,Juvenile osteoporosis,TRUE,FALSE,Active +GARD:6763,Active,Orphanet,ORPHA:99931,Disorder,[Disease],Idiopathic pulmonary hemosiderosis,,"Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.","[178550, 235500]",,,,,Idiopathic pulmonary hemosiderosis,TRUE,FALSE,Active +GARD:6768,Legacy,GARD,,,,,,,,,,,,Immune thrombocytopenia,TRUE,FALSE,Active +GARD:6769,Legacy,GARD,,,,,,,,,,,,Imperforate anus,TRUE,FALSE,Active +GARD:6770,Legacy,GARD,,,,,,,,,,,,Inborn amino acid metabolism disorder,TRUE,FALSE,Active +GARD:6774,Legacy,GARD,,,,,,,,,,,,Inborn renal aminoaciduria,TRUE,FALSE,Active +GARD:6777,Legacy,GARD,,,,,,,,,,,,Inclusion conjunctivitis,TRUE,FALSE,Active +GARD:6778,Active,Orphanet,ORPHA:464,Disorder,[Malformation syndrome],Incontinentia pigmenti,"[Bloch-Siemens syndrome, Bloch-Sulzberger syndrome]","An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.",[308300],,,,,Incontinentia pigmenti,TRUE,FALSE,Active +GARD:6779,Active,Orphanet,ORPHA:70590,Disorder,[Disease],Infantile apnea,"[Apnea in full-term infants, Apnea of infancy]","Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.",,,,,,Infantile apnea,TRUE,FALSE,Active +GARD:6781,Legacy,GARD,,,,,,,,,,,,Infectious arthritis,TRUE,FALSE,Active +GARD:6782,Legacy,GARD,,,,,,,,,,,,Infectious myocarditis,TRUE,FALSE,Active +GARD:6784,Legacy,GARD,,,,,,,,,,,,Inflammatory breast cancer,TRUE,FALSE,Active +GARD:6786,Legacy,GARD,,,,,,,,,,,,Intercellular cholesterol esterification disease,TRUE,FALSE,Retired +GARD:6787,Legacy,GARD,,,,,,,,,,,,Interstitial cystitis,FALSE,FALSE,Active +GARD:6789,Legacy,GARD,,,,,,,,,,,,Intestinal pseudo-obstruction,TRUE,FALSE,Active +GARD:679,Legacy,GARD,,,,,,,,,,,,"Angiomatosis, leptomeningeal capillary venous",TRUE,FALSE,Retired +GARD:6791,Active,Orphanet,ORPHA:263479,Disorder,[Disease],Fuchs heterochromic iridocyclitis,[FHI],"Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.",,,,,,Fuchs heterochromic iridocyclitis,TRUE,FALSE,Active +GARD:6793,Active,Orphanet,ORPHA:84142,Disorder,[Disease],Isaacs syndrome,"[Continuous muscle fiber activity syndrome, Isaacs-Mertens syndrome, Quantal squander syndrome]","Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.",,,,,,Isaacs' syndrome,TRUE,FALSE,Active +GARD:6795,Active,Orphanet,ORPHA:97548,Disorder,[Malformation syndrome],Right sided atrial isomerism,"[Isomerism of right atrial appendage, Ivemark syndrome, RAI]","A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.",[208530],,,,,Ivemark syndrome,TRUE,FALSE,Active +GARD:6796,Active,Orphanet,ORPHA:1540,Disorder,[Malformation syndrome],Jackson-Weiss syndrome,"[Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, JWS]","Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.",[123150],,,,,Jackson-Weiss syndrome,TRUE,FALSE,Active +GARD:6797,Active,Orphanet,ORPHA:79139,Disorder,[Disease],Japanese encephalitis,,Japanese encephalitis is an arboviral disease (i.e. a disease due to a virus transmitted by an arthropod).,,,,,,Japanese encephalitis,TRUE,FALSE,Active +GARD:6798,Active,Orphanet,ORPHA:2311,Disorder,[Malformation syndrome],Autosomal recessive spondylocostal dysostosis,[Jarcho-Levin syndrome],"A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.","[616566, 609813, 613686, 277300, 608681]",,,,,Spondylothoracic dysostosis,TRUE,FALSE,Active +GARD:6799,Legacy,GARD,,,,,,,,,,,,Jejunal atresia,TRUE,FALSE,Active +GARD:68,Active,Orphanet,ORPHA:989,Disorder,[Malformation syndrome],Hypoglossia-hypodactyly syndrome,"[Aglossia-adactylia syndrome, Hanhart syndrome, Jussieu syndrome]","A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.",[103300],,,,,Hanhart syndrome,TRUE,FALSE,Active +GARD:6800,Active,Orphanet,ORPHA:2314,Disorder,[Disease],Autosomal dominant hyper-IgE syndrome,"[AD-HIES, Autosomal dominant HIES, Autosomal dominant hyperimmunoglobulin E syndrome, Buckley syndrome, Hyperimmunoglobulin E syndrome type 1, Hyperimmunoglobulin E-recurrent infection syndrome, Job syndrome, STAT3 deficiency]","A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.",[147060],,,,,Autosomal dominant hyper IgE syndrome,TRUE,FALSE,Active +GARD:6801,Active,Orphanet,ORPHA:98757,Disorder,[Disease],Spinocerebellar ataxia type 3,"[Azorean disease of the nervous system, MJD, Machado disease, Machado-Joseph disease, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, SCA3]","Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.",[109150],,,,,Spinocerebellar ataxia 3,TRUE,FALSE,Active +GARD:6802,Active,Orphanet,ORPHA:475,Disorder,[Malformation syndrome],Joubert syndrome,"[CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, Pure Joubert syndrome]","A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.","[614424, 615636, 213300, 616784, 614970, 616654, 612291, 614615, 617120, 610688, 617121, 614173, 614464, 617622, 616490, 617761, 616781, 618161, 619185]",,,,,Joubert syndrome,TRUE,FALSE,Active +GARD:6803,Legacy,GARD,,,,,,,,,,,,Jumping Frenchmen of Maine,TRUE,FALSE,Active +GARD:6805,Active,Orphanet,ORPHA:93672,Disorder,[Disease],Juvenile dermatomyositis,[Juvenile DM],"An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue.",,,,,,Juvenile dermatomyositis,TRUE,FALSE,Active +GARD:6806,Legacy,GARD,,,,,,,,,,,,Familial juvenile hyperuricaemic nephropathy,TRUE,FALSE,Retired +GARD:6807,Active,Orphanet,ORPHA:2176,Subtype of disorder,[Clinical subtype],Infantile systemic hyalinosis,,"Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.",[228600],,,,,Hyaline fibromatosis syndrome,TRUE,FALSE,Active +GARD:6808,Active,Orphanet,ORPHA:307,Disorder,[Disease],Juvenile myoclonic epilepsy,"[JME, Juvenile myoclonus epilepsy]","Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).","[604827, 617924, 611136, 607682, 613060, 614280, 254770, 607628, 608816, 611364]",,,,,Juvenile myoclonic epilepsy,TRUE,FALSE,Active +GARD:6810,Active,Orphanet,ORPHA:2322,Disorder,[Malformation syndrome],Kabuki syndrome,"[Kabuki make-up syndrome, Niikawa-Kuroki syndrome]","A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.","[147920, 300867]",,,,,Kabuki syndrome,TRUE,FALSE,Active +GARD:6811,Legacy,GARD,,,,,,,,,,,,Kallikrein hypertension,TRUE,FALSE,Active +GARD:6814,Active,Orphanet,ORPHA:33276,Disorder,[Disease],Kaposi sarcoma,,"A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.",[148000],,,,,Kaposi sarcoma,TRUE,FALSE,Active +GARD:6815,Legacy,GARD,,,,,,,,,,,,Kartagener syndrome,TRUE,FALSE,Active +GARD:6816,Active,Orphanet,ORPHA:2331,Disorder,[Disease],Kawasaki disease,[Mucocutaneous lymph node syndrome],"A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.",[611775],,,,,Kawasaki disease,TRUE,FALSE,Active +GARD:6817,Active,Orphanet,ORPHA:480,Disorder,[Disease],Kearns-Sayre syndrome,,"A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.",[530000],,,,,Kearns-Sayre syndrome,TRUE,FALSE,Active +GARD:6818,Active,Orphanet,ORPHA:481,Disorder,[Disease],Kennedy disease,"[SBMA, SMAX1, X-linked BSMA, X-linked bulbospinal amyotrophy, X-linked bulbospinal muscular atrophy, X-linked spinal and bulbar muscular atrophy]","Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.",[313200],,,,,Kennedy disease,TRUE,FALSE,Active +GARD:6819,Legacy,GARD,,,,,,,,,,,,Herpetic keratitis,FALSE,FALSE,Retired +GARD:6821,Active,Orphanet,ORPHA:587,Disorder,[Disease],Muir-Torre syndrome,"[Multiple keratoacanthoma, Muir-Torre type]","A form of hereditary nonpolyposis colon cancer characterized by the development of cutaneous sebaceous neoplasia and at least one visceral malignancy, most frequently gastrointestinal carcinoma. The malignancies are usually multiple, occur at an early age, but tend to be of low-grade and have a relatively low incidence of metastases. Sebaceous tumors are usually multiple, with sebaceous adenomas being the commonest. Multiple keratoacanthomas, usually located on the face or the trunk, have been reported as a feature. Cutaneous tumors may precede or follow the first presentation of internal malignancy, which usually involves the gastrointestinal tract, the breast or the genitourinary tract.",[158320],,,,,Muir-Torre syndrome,TRUE,FALSE,Active +GARD:6824,Legacy,GARD,,,,,,,,,,,,Keratoconus,TRUE,FALSE,Active +GARD:6825,Legacy,GARD,,,,,,,,,,,,Keratomalacia,TRUE,FALSE,Active +GARD:6829,Active,Orphanet,ORPHA:2340,Disorder,[Disease],Keratosis follicularis spinulosa decalvans,,"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.","[308800, 612843, 604093]",,,,,Keratosis follicularis spinulosa decalvans,TRUE,FALSE,Active +GARD:683,Active,Orphanet,ORPHA:74,Disorder,[Disease],Angiostrongyliasis,,"A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.",,,,,,Angiostrongyliasis,TRUE,FALSE,Active +GARD:6830,Active,Orphanet,ORPHA:415286,Group of disorders,[Clinical group],Bilirubin encephalopathy,[Kernicterus],,,,,,,Kernicterus,TRUE,FALSE,Active +GARD:6834,Active,Orphanet,ORPHA:50918,Disorder,[Disease],Kikuchi-Fujimoto disease,"[Histiocytic necrotizing lymphadenitis, Kikuchi disease]","Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.",,,,,,Kikuchi disease,TRUE,FALSE,Active +GARD:6835,Active,Orphanet,ORPHA:482,Disorder,[Disease],Kimura disease,[Eosinophilic lymphogranuloma],"Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.",,,,,,Kimura disease,TRUE,FALSE,Active +GARD:6838,Legacy,GARD,,,,,,,,,,,,Segmentation syndrome 1,TRUE,FALSE,Active +GARD:6840,Active,Orphanet,ORPHA:157823,Disorder,[Clinical syndrome],Klüver-Bucy syndrome,,"A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.",,,,,,Kluver Bucy syndrome,TRUE,FALSE,Active +GARD:6841,Active,Orphanet,ORPHA:485,Disorder,[Disease],Kniest dysplasia,,"Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).",[156550],,,,,Kniest dysplasia,TRUE,FALSE,Active +GARD:6842,Active,Orphanet,ORPHA:563991,Disorder,[Disease],Osteochondrosis of the tarsal bone,"[Aseptic necrosis of the tarsal bone, Avascular necrosis of the tarsal bone, Kohler disease]","A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.",,,,,,Kohler disease,TRUE,FALSE,Active +GARD:6843,Legacy,GARD,,,,,,,,,,,,Wernicke-Korsakoff syndrome,TRUE,FALSE,Active +GARD:6844,Active,Orphanet,ORPHA:487,Disorder,[Disease],Krabbe disease,"[GALC deficiency, Galactocerebrosidase deficiency, Galactosylceramidase deficiency, Globoid cell leukodystrophy]","A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).","[245200, 611722]",,,,,Krabbe disease,TRUE,FALSE,Active +GARD:6845,Active,Orphanet,ORPHA:228340,Subtype of disorder,[Etiological subtype],CLN4A disease,,,[204300],,,,,Autosomal recessive neuronal ceroid lipofuscinosis 4A,TRUE,FALSE,Active +GARD:6848,Active,Orphanet,ORPHA:2363,Disorder,[Malformation syndrome],Lacrimoauriculodentodigital syndrome,"[LADD syndrome, LARD syndrome, Lacrimoauriculoradiodental syndrome, Levy-Hollister syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.",[149730],,,,,Lacrimo-auriculo-dento-digital syndrome,TRUE,FALSE,Active +GARD:685,Active,Orphanet,ORPHA:1069,Disorder,[Malformation syndrome],Aniridia-absent patella syndrome,,"A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.",[106220],,,,,Aniridia absent patella,TRUE,FALSE,Active +GARD:6851,Active,Orphanet,ORPHA:43393,Disorder,[Disease],Lambert-Eaton myasthenic syndrome,,"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).",,,,,,Lambert Eaton myasthenic syndrome,TRUE,FALSE,Active +GARD:6855,Active,Orphanet,ORPHA:98818,Disorder,[Disease],Landau-Kleffner syndrome,"[Acquired epileptic aphasia, LKS]",Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.,[245570],,,,,Landau-Kleffner syndrome,TRUE,FALSE,Active +GARD:6858,Active,Orphanet,ORPHA:389,Disorder,[Disease],Langerhans cell histiocytosis,"[Histiocytosis X, Langerhans cell granulomatosis]",Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.,[604856],,,,,Langerhans cell histiocytosis,TRUE,FALSE,Active +GARD:6859,Active,Orphanet,ORPHA:633,Disorder,[Disease],Laron syndrome,"[Complete growth hormone insensitivity, GH receptor deficiency, Growth hormone receptor deficiency, Laron-type dwarfism, Primary GH insensitivity, Primary GH resistance, Primary growth hormone insensitivity, Primary growth hormone resistance, Short stature due to growth hormone resistance]",Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.,[262500],,,,,Laron syndrome,TRUE,FALSE,Active +GARD:686,Legacy,GARD,,,,,,,,,,,,Aniridia ataxia renal agenesis psychomotor retardation,TRUE,FALSE,Retired +GARD:6860,Active,Orphanet,ORPHA:503,Disorder,[Malformation syndrome],Larsen syndrome,,"An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.",[150250],,,,,Larsen syndrome,TRUE,FALSE,Active +GARD:6862,Legacy,GARD,,,,,,,,,,,,Laryngeal cancer,TRUE,FALSE,Active +GARD:6864,Legacy,GARD,,,,,,,,,,,,Laryngeal papillomatosis,TRUE,FALSE,Active +GARD:6865,Active,Orphanet,ORPHA:2373,Disorder,[Malformation syndrome],Congenital laryngomalacia,,"A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.",[150280],,,,,Laryngomalacia,TRUE,FALSE,Active +GARD:6866,Active,Orphanet,ORPHA:110,Disorder,[Disease],Bardet-Biedl syndrome,[BBS],"A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.","[615985, 615992, 615986, 615993, 615994, 617119, 615995, 615987, 615981, 615988, 605231, 615989, 209900, 615996, 615990, 615982, 617406, 615983, 600151, 615984, 615991]",,,,,Bardet-Biedl syndrome,TRUE,FALSE,Active +GARD:6867,Active,Orphanet,ORPHA:5,Disorder,[Disease],Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,"[LCHAD deficiency, LCHADD, Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]","A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.",[609016],,,,,LCHAD deficiency,TRUE,FALSE,Active +GARD:6870,Active,Orphanet,ORPHA:104,Disorder,[Disease],Leber hereditary optic neuropathy,"[LHON, Leber optic atrophy]","A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.","[535000, 308905]",,,,,Leber hereditary optic neuropathy,TRUE,FALSE,Active +GARD:6873,Active,Orphanet,ORPHA:199251,Disorder,[Disease],Ledderhose disease,[Plantar fibromatosis],"A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, fixed, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.",,,,,,Ledderhose disease,TRUE,FALSE,Active +GARD:6874,Active,Orphanet,ORPHA:2380,Disorder,[Disease],Legg-Calvé-Perthes disease,"[Aseptic necrosis of the capital femoral epiphysis, Osteochondrosis of the capital femoral epiphysis, Perthes disease]",A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.,[150600],,,,,Legg-Calve-Perthes disease,TRUE,FALSE,Active +GARD:6876,Active,Orphanet,ORPHA:549,Disorder,[Disease],Legionnaires disease,,Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.,,,,,,Legionnaires’ disease,TRUE,FALSE,Active +GARD:6877,Active,Orphanet,ORPHA:506,Group of disorders,[Clinical group],Leigh syndrome,"[Infantile subacute necrotizing encephalopathy, Leigh disease]",A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.,[256000],,,,,Leigh syndrome,TRUE,FALSE,Active +GARD:6878,Active,Orphanet,ORPHA:314,Disorder,[Disease],Erythroderma desquamativum,[Leiner disease],"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.",[609536],,,,,Leiner disease,TRUE,FALSE,Active +GARD:688,Legacy,GARD,,,,,,,,,,,,Aniridia mental retardation syndrome,TRUE,FALSE,Retired +GARD:6880,Active,Orphanet,ORPHA:64720,Disorder,[Disease],Leiomyosarcoma,,"A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.",,,,,,Leiomyosarcoma,TRUE,FALSE,Active +GARD:6881,Active,Orphanet,ORPHA:507,Disorder,[Disease],Leishmaniasis,,"A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).",[608207],,,,,Leishmaniasis,TRUE,FALSE,Active +GARD:6882,Active,Orphanet,ORPHA:137839,Disorder,[Disease],Lemierre syndrome,"[Lemierre postanginal sepsis, Postanginal sepsis secondary to orophyngeal infection, Septic phlebitis of the internal jugular vein]","Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.",,,,,,Lemierre syndrome,TRUE,FALSE,Active +GARD:6885,Active,Orphanet,ORPHA:508,Disorder,[Malformation syndrome],Leprechaunism,[Donohue syndrome],"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.",[246200],,,,,Leprechaunism,TRUE,FALSE,Active +GARD:6886,Active,Orphanet,ORPHA:548,Disorder,[Disease],Leprosy,,A chronic infectious disease affecting primarily the skin and peripheral nervous system.,"[609888, 613223, 607572, 610988, 246300, 613407]",,,,,Hansen's disease,TRUE,FALSE,Active +GARD:689,Active,Orphanet,ORPHA:1067,Disorder,[Malformation syndrome],Aniridia-ptosis-intellectual disability-familial obesity syndrome,,"An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.",,,,,,Aniridia - ptosis - intellectual disability - familial obesity,TRUE,FALSE,Active +GARD:6892,Legacy,GARD,,,,,,,,,,,,Leukemia subleukemic,TRUE,FALSE,Active +GARD:6893,Active,Orphanet,ORPHA:99842,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type I,[LAD-I],"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.",[116920],,,,,Leukocyte adhesion deficiency type 1,TRUE,FALSE,Active +GARD:6895,Active,Orphanet,ORPHA:68356,Group of disorders,[Category],Leukodystrophy,,,,,,,,Leukodystrophy,TRUE,FALSE,Active +GARD:6896,Legacy,GARD,,,,,,,,,,,,Leukomalacia,TRUE,FALSE,Retired +GARD:6897,Legacy,GARD,,,,,,,,,,,,Leukoplakia,TRUE,FALSE,Active +GARD:6899,Legacy,GARD,,,,,,,,,,,,Levator syndrome,TRUE,FALSE,Active +GARD:69,Active,Orphanet,ORPHA:319247,Disorder,[Disease],Hantavirus pulmonary syndrome,,"A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.",,,,,,Hantavirus pulmonary syndrome,TRUE,FALSE,Active +GARD:690,Active,Orphanet,ORPHA:1064,Disorder,[Malformation syndrome],Aniridia-renal agenesis-psychomotor retardation syndrome,[Sommer-Rathbun-Battles syndrome],"An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.",[206750],,,,,Aniridia renal agenesis psychomotor retardation,TRUE,FALSE,Active +GARD:6901,Active,Orphanet,ORPHA:65285,Disorder,[Disease],Lhermitte-Duclos disease,"[Dysplastic gangliocytoma of the cerebellum, LDD]","A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.",[158350],,,,,Lhermitte-Duclos disease,TRUE,FALSE,Active +GARD:6902,Active,Orphanet,ORPHA:524,Disorder,[Disease],Li-Fraumeni syndrome,,"A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.","[151623, 609265]",,,,,Li-Fraumeni syndrome,TRUE,FALSE,Active +GARD:6905,Legacy,GARD,,,,,,,,,,,,Lichen sclerosus,TRUE,FALSE,Active +GARD:6906,Active,Orphanet,ORPHA:93558,Subtype of disorder,[Clinical subtype],Light chain deposition disease,[LCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported. The condition frequently occurs in association with multiple myeloma or in patients with M protein and marrow plasma cells at monoclonal gammopathy of undetermined significance levels.",,,,,,Light chain deposition disease,TRUE,FALSE,Active +GARD:6907,Active,Orphanet,ORPHA:263,Group of disorders,[Clinical group],Limb-girdle muscular dystrophy,[LGMD],Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.,,,,,,Limb-girdle muscular dystrophy,TRUE,FALSE,Active +GARD:6909,Legacy,GARD,,,,,,,,,,,,Lipodystrophy,TRUE,FALSE,Retired +GARD:6910,Legacy,GARD,,,,,,,,,,,,Lipogranulomatosis,TRUE,FALSE,Active +GARD:6913,Active,Orphanet,ORPHA:69078,Disorder,[Disease],Liposarcoma,,"Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.",[613488],,,,,Liposarcoma,TRUE,FALSE,Active +GARD:6914,Active,Orphanet,ORPHA:2148,Disorder,[Disease],Lissencephaly type 1 due to doublecortin gene mutation,[X-linked lissencephaly type 1],Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.,[300067],,,,,Lissencephaly X-linked,TRUE,FALSE,Active +GARD:6915,Active,Orphanet,ORPHA:533,Disorder,[Disease],Listeriosis,[Listeria infection],"A rare bacterial infectious disease caused by the foodborne pathogen Listeria monocytogenes, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.",,,,,,Listeria infection,TRUE,FALSE,Active +GARD:6919,Active,Orphanet,ORPHA:2406,Disorder,[Disease],Locked-in syndrome,[Cerebromedullospinal disconnection],"Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.",,,,,,Locked-in syndrome,TRUE,FALSE,Active +GARD:6920,Legacy,GARD,,,,,,,,,,,,Loin pain hematuria syndrome,TRUE,FALSE,Active +GARD:6922,Legacy,GARD,,,,,,,,,,,,Long QT syndrome,FALSE,FALSE,Active +GARD:693,Active,Orphanet,ORPHA:1070,Disorder,[Disease],Anisakiasis,,"A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).",,,,,,Anisakiasis,TRUE,FALSE,Active +GARD:6932,Legacy,GARD,,,,,,,,,,,,Lymph Node Neoplasm,TRUE,FALSE,Active +GARD:6933,Legacy,GARD,,,,,,,,,,,,Lymphangiectasis,TRUE,FALSE,Active +GARD:6936,Legacy,GARD,,,,,,,,,,,,Lymphatic neoplasm,TRUE,FALSE,Retired +GARD:6938,Legacy,GARD,,,,,,,,,,,,Lymphocytes absent,TRUE,FALSE,Retired +GARD:6939,Legacy,GARD,,,,,,,,,,,,Lymphocytic colitis,FALSE,FALSE,Active +GARD:694,Legacy,GARD,,,,,,,,,,,,Ankle defects short stature,TRUE,FALSE,Retired +GARD:6940,Active,Orphanet,ORPHA:33314,Disorder,[Disease],Jessner lymphocytic infiltration of the skin,[Jessner-Kanof lymphocytic infiltration of the skin],Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.,,,,,,Lymphocytic infiltrate of Jessner,TRUE,FALSE,Active +GARD:6941,Legacy,GARD,,,,,,,,,,,,Lymphocytic vasculitis,TRUE,FALSE,Active +GARD:6943,Active,Orphanet,ORPHA:86869,Disorder,[Disease],Lymphomatoid granulomatosis,[LYG],"Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.",,,,,,Lymphomatoid granulomatosis,TRUE,FALSE,Active +GARD:6944,Active,Orphanet,ORPHA:98842,Disorder,[Disease],Lymphomatoid papulosis,[LyP],"Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.",,,,,,Lymphomatoid papulosis,TRUE,FALSE,Active +GARD:6945,Legacy,GARD,,,,,,,,,,,,Lymphomatous thyroiditis,TRUE,FALSE,Active +GARD:6946,Legacy,GARD,,,,,,,,,,,,Lymphosarcoma,TRUE,FALSE,Active +GARD:6950,Active,Orphanet,ORPHA:60040,Disorder,[Malformation syndrome],Megalencephaly-capillary malformation-polymicrogyria syndrome,"[MCAP, MCM, MCMTC, Macrocephaly-capillary malformation syndrome, Macrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-capillary malformation syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome]","A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.",[602501],,,,,Megalencephaly-capillary malformation syndrome,TRUE,FALSE,Active +GARD:6951,Active,Orphanet,ORPHA:295047,Disorder,[Morphological anomaly],Macrodactyly of toes,[Macrodactyly of foot],"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.",,,,,,Macrodactyly of toes,TRUE,FALSE,Active +GARD:6953,Active,Orphanet,ORPHA:98969,Disorder,[Disease],Macular corneal dystrophy,"[Corneal dystrophy Groenouw type II, Fehr corneal dystrophy, MCD]","Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.",[217800],,,,,"Macular dystrophy, corneal type 1",TRUE,FALSE,Active +GARD:6956,Active,Orphanet,ORPHA:204,Disorder,[Disease],Sporadic Creutzfeldt-Jakob disease,[Sporadic CJD],"A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.",[123400],,,,,Creutzfeldt-Jakob disease,TRUE,FALSE,Active +GARD:6957,Active,Orphanet,ORPHA:2398,Disorder,[Disease],Multiple symmetric lipomatosis,"[Cephalothoracic lipodystrophy, Familial benign cervical lipomatosis, Launois-Bensaude lipomatosis, Madelung disease]","A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).",[151800],,,,,Multiple symmetric lipomatosis,TRUE,FALSE,Active +GARD:6958,Active,Orphanet,ORPHA:163634,Disorder,[Disease],Maffucci syndrome,,A rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas.,[614569],,,,,Maffucci syndrome,TRUE,FALSE,Active +GARD:6959,Active,Orphanet,ORPHA:210272,Disorder,[Clinical syndrome],Mal de débarquement,"[Disembarkment syndrome, MdD, MdDS, Sickness of disembarkment]","Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.",,,,,,Mal de debarquement syndrome,TRUE,FALSE,Active +GARD:696,Active,Orphanet,ORPHA:1072,Subtype of disorder,[Clinical subtype],Ankyloblepharon filiforme adnatum-cleft palate syndrome,,"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.",[106250],,,,,Ankyloblepharon filiforme adnatum cleft palate,TRUE,FALSE,Active +GARD:6960,Active,Orphanet,ORPHA:556,Disorder,[Disease],Malakoplakia,,Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.,,,,,,Malakoplakia,TRUE,FALSE,Active +GARD:6961,Active,Orphanet,ORPHA:673,Disorder,[Disease],Malaria,,"A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.",[611162],,,,,Malaria,TRUE,FALSE,Active +GARD:6963,Active,Orphanet,ORPHA:2023,Disorder,[Disease],Undifferentiated pleomorphic sarcoma,[UPS],"An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.",,,,,,Undifferentiated pleomorphic sarcoma,TRUE,FALSE,Active +GARD:6964,Active,Orphanet,ORPHA:423,Disorder,[Disease],Malignant hyperthermia of anesthesia,[Hyperthermia of anesthesia],"Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.","[601888, 154275, 154276, 600467, 145600, 601887]",,,,,Malignant hyperthermia,TRUE,FALSE,Active +GARD:6966,Legacy,GARD,,,,,,,,,,,,Malignant mixed Mullerian tumor,TRUE,FALSE,Active +GARD:6967,Legacy,GARD,,,,,,,,,,,,Mallory-Weiss syndrome,TRUE,FALSE,Active +GARD:6968,Active,Orphanet,ORPHA:61,Disorder,[Disease],Alpha-mannosidosis,[Lysosomal alpha-D-mannosidase deficiency],"An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.",[248500],,,,,Alpha-mannosidosis,TRUE,FALSE,Active +GARD:6969,Active,Orphanet,ORPHA:52416,Disorder,[Disease],Mantle cell lymphoma,"[LCM, MCL, Mantle zone lymphoma]",Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.,,,,,,Mantle cell lymphoma,TRUE,FALSE,Active +GARD:697,Active,Orphanet,ORPHA:1074,Subtype of disorder,[Clinical subtype],Ankyloblepharon filiforme adnatum-imperforate anus syndrome,[Aughton-Hufnagle syndrome],"An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.",,,,,,Ankyloblepharon filiforme imperforate anus,TRUE,FALSE,Active +GARD:6971,Active,Orphanet,ORPHA:221074,Disorder,[Disease],Marchiafava-Bignami disease,[MBD],"A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.",,,,,,Marchiafava Bignami disease,TRUE,FALSE,Active +GARD:6972,Active,Orphanet,ORPHA:91412,Disorder,[Disease],Marcus-Gunn syndrome,"[Jaw-winking syndrome, Mandibulo-palpebral synkinesis-ptosis syndrome, Marcus-Gunn phenomenon]",Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.,[154600],,,,,Marcus Gunn phenomenon,TRUE,FALSE,Active +GARD:6973,Active,Orphanet,ORPHA:2461,Disorder,[Malformation syndrome],Marden-Walker syndrome,,"A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.",[248700],,,,,Marden-Walker syndrome,TRUE,FALSE,Active +GARD:6974,Legacy,GARD,,,,,,,,,,,,Marek disease,TRUE,FALSE,Active +GARD:6975,Active,Orphanet,ORPHA:284963,Subtype of disorder,[Clinical subtype],Marfan syndrome type 1,[MFS1],,[154700],,,,,Marfan syndrome,TRUE,FALSE,Active +GARD:6981,Legacy,GARD,,,,,,,,,,,,Marie type ataxia,TRUE,FALSE,Retired +GARD:6984,Active,Orphanet,ORPHA:560,Disorder,[Malformation syndrome],Marshall syndrome,,"A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.",[154780],,,,,Marshall syndrome,TRUE,FALSE,Active +GARD:6985,Active,Orphanet,ORPHA:561,Disorder,[Malformation syndrome],Marshall-Smith syndrome,[Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome],"A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.",[602535],,,,,Marshall-Smith syndrome,TRUE,FALSE,Active +GARD:6986,Active,Orphanet,ORPHA:2466,Subtype of disorder,[Clinical subtype],MASA syndrome,[Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome],"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.",[303350],,,,,Spastic paraplegia 1,TRUE,FALSE,Active +GARD:6987,Active,Orphanet,ORPHA:98292,Group of disorders,[Category],Mastocytosis,,,[154800],,,,,Mastocytosis,TRUE,FALSE,Active +GARD:6991,Legacy,GARD,,,,,,,,,,,,Maxillofacial dysostosis,TRUE,FALSE,Active +GARD:6992,Active,Orphanet,ORPHA:1248,Disorder,[Malformation syndrome],Maxillonasal dysplasia,"[Binder syndrome, Maxillonasal dysostosis]","Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.",[155050],,,,,"Maxillonasal dysplasia, Binder type",TRUE,FALSE,Active +GARD:6995,Active,Orphanet,ORPHA:562,Disorder,[Disease],McCune-Albright syndrome,[Gonadotropin-independent female-limited sexual precocity],"McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).",[174800],,,,,McCune-Albright syndrome,TRUE,FALSE,Active +GARD:6996,Active,Orphanet,ORPHA:175,Disorder,[Disease],Cartilage-hair hypoplasia,"[Autosomal recessive metaphyseal chondrodysplasia, Metaphyseal chondrodysplasia, McKusick type]",Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.,"[250250, 250460]",,,,,Cartilage-hair hypoplasia,TRUE,FALSE,Active +GARD:7,Active,Orphanet,ORPHA:969,Disorder,[Malformation syndrome],Acromicric dysplasia,,"A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.",[102370],,,,,Acromicric dysplasia,TRUE,FALSE,Active +GARD:70,Active,Orphanet,ORPHA:2330,Disorder,[Disease],Kasabach-Merritt syndrome,[Hemangioma-thrombocytopenia syndrome],"Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.",[141000],,,,,Hemangioma thrombocytopenia syndrome,TRUE,FALSE,Active +GARD:7002,Active,Orphanet,ORPHA:88949,Subtype of disorder,[Clinical subtype],MUC1-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-MUC1, MCKD1, MUC1-related medullary cystic kidney disease, MUCI-related ADTKD, Medullary cystic kidney disease type 1]",,[174000],,,,,Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations,TRUE,FALSE,Active +GARD:7004,Active,Orphanet,ORPHA:1332,Disorder,[Disease],Medullary thyroid carcinoma,[MTC],Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).,,,,,,"Thyroid cancer, medullary",TRUE,FALSE,Active +GARD:7005,Active,Orphanet,ORPHA:616,Disorder,[Disease],Medulloblastoma,,"A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).",[155255],,,,,Medulloblastoma,TRUE,FALSE,Active +GARD:7006,Active,Orphanet,ORPHA:35858,Disorder,[Disease],Imerslund-Gräsbeck syndrome,"[Familial megaloblastic anemia, Selective cobalamin malabsorption with proteinuria]","Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.","[618882, 261100]",,,,,Imerslund-Grasbeck syndrome,TRUE,FALSE,Active +GARD:7008,Active,Orphanet,ORPHA:93964,Disorder,[Disease],Blepharospasm-oromandibular dystonia syndrome,"[Meige dystonia, Meige syndrome]",A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.,,,,,,Meige syndrome,TRUE,FALSE,Active +GARD:7009,Active,Orphanet,ORPHA:550,Disorder,[Disease],MELAS,"[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes]","A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.",[540000],,,,,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes,TRUE,FALSE,Active +GARD:701,Active,Orphanet,ORPHA:1077,Disorder,[Malformation syndrome],Dental ankylosis,[Ankylosis of teeth],A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.,,,,,,Ankylosis of teeth,TRUE,FALSE,Active +GARD:7010,Active,Orphanet,ORPHA:2483,Disorder,[Malformation syndrome],Melkersson-Rosenthal syndrome,,"A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.",[155900],,,,,Melkersson-Rosenthal syndrome,TRUE,FALSE,Active +GARD:7011,Active,Orphanet,ORPHA:2484,Disorder,[Malformation syndrome],Melnick-Needles syndrome,[Melnick-Needles osteodysplasty],"Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.",[309350],,,,,Melnick-Needles syndrome,TRUE,FALSE,Active +GARD:7015,Active,Orphanet,ORPHA:2495,Disorder,[Disease],Meningioma,,"A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.",[606190],,,,,Meningioma,TRUE,FALSE,Active +GARD:7021,Active,Orphanet,ORPHA:330021,Disorder,[Disease],Mercury poisoning,"[Hydrargyria, Mercurialism, Mercury intoxication]","Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.",,,,,,Mercury poisoning,TRUE,FALSE,Active +GARD:7026,Active,Orphanet,ORPHA:50251,Disorder,[Disease],Pleural mesothelioma,,"Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.",[156240],,,,,Malignant mesothelioma,TRUE,FALSE,Active +GARD:7029,Active,Orphanet,ORPHA:174,Disorder,[Disease],"Metaphyseal chondrodysplasia, Schmid type",,"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.",[156500],,,,,Metaphyseal chondrodysplasia Schmid type,TRUE,FALSE,Active +GARD:7030,Legacy,GARD,,,,,,,,,,,,Metastatic insulinoma,TRUE,FALSE,Active +GARD:7033,Legacy,GARD,,,,,,,,,,,,Methylmalonic acidemia,TRUE,FALSE,Active +GARD:7034,Legacy,GARD,,,,,,,,,,,,Monoclonal gammopathy of undetermined significance,TRUE,FALSE,Active +GARD:7035,Active,Orphanet,ORPHA:321,Disorder,[Disease],Multiple osteochondromas,"[Bessel-Hagen disease, Multiple cartilaginous exostoses]",A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.,"[133700, 600209, 133701]",,,,,Hereditary multiple osteochondromas,TRUE,FALSE,Active +GARD:7036,Legacy,GARD,,,,,,,,,,,,"Microcephaly with chorioretinopathy, autosomal dominant form",TRUE,FALSE,Active +GARD:7038,Legacy,GARD,,,,,,,,,,,,Microencephaly,TRUE,FALSE,Active +GARD:7039,Active,Orphanet,ORPHA:2290,Disorder,[Disease],Microvillus inclusion disease,"[Congenital microvillous atrophy, Congenital microvillus atrophy, MVID, Microvillous inclusion disease]",Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.,[251850],,,,,Microvillus inclusion disease,TRUE,FALSE,Active +GARD:704,Legacy,GARD,,,,,,,,,,,,Annular constricting bands,TRUE,FALSE,Active +GARD:7041,Active,Orphanet,ORPHA:86879,Disorder,[Disease],Extranodal nasal NK/T cell lymphoma,"[Angiocentric T-cell lymphoma, Lethal midline granuloma, NK/T-cell lymphoma, NKTCL, Nasal T/natural killer-cell lymphoma]","Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.",,,,,,Midline lethal granuloma,TRUE,FALSE,Active +GARD:7043,Active,Orphanet,ORPHA:79078,Subtype of disorder,[Clinical subtype],IgG4-related dacryoadenitis and sialadenitis,"[Chronic dacryoadenitis and sialadenitis, Mikulicz disease]","IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).",,,,,,IgG4-related dacryoadenitis and sialadenitis,TRUE,FALSE,Active +GARD:7048,Legacy,GARD,,,,,,,,,,,,Mitochondrial genetic disorders,TRUE,FALSE,Active +GARD:705,Active,Orphanet,ORPHA:675,Disorder,[Morphological anomaly],Annular pancreas,,A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.,[167750],,,,,Annular pancreas,TRUE,FALSE,Active +GARD:7051,Active,Orphanet,ORPHA:809,Disorder,[Disease],Mixed connective tissue disease,"[MCTD, Sharp syndrome]","Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).",,,,,,Mixed connective tissue disease,TRUE,FALSE,Active +GARD:7054,Legacy,GARD,,,,,,,,,,,,Mondor disease,TRUE,FALSE,Active +GARD:7056,Legacy,GARD,,,,,,,,,,,,Mononeuritis multiplex,TRUE,FALSE,Active +GARD:7058,Active,Orphanet,ORPHA:90289,Disorder,[Disease],Localized scleroderma,[Localized fibrosing scleroderma],Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.,,,,,,Localized scleroderma,TRUE,FALSE,Active +GARD:7059,Legacy,GARD,,,,,,,,,,,,Morquio syndrome C,TRUE,FALSE,Retired +GARD:7060,Legacy,GARD,,,,,,,,,,,,Chromosome 16 trisomy,TRUE,FALSE,Active +GARD:7061,Legacy,GARD,,,,,,,,,,,,Motor neuro-ophthalmic disorders,TRUE,FALSE,Retired +GARD:7064,Active,Orphanet,ORPHA:2573,Disorder,[Disease],Moyamoya disease,[Idiopathic Moyamoya disease],Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.,"[607151, 608796, 614042, 252350]",,,,,Moyamoya disease,TRUE,FALSE,Active +GARD:7065,Active,Orphanet,ORPHA:79213,Group of disorders,[Category],Mucopolysaccharidosis,,,,,,,,Mucopolysaccharidosis,TRUE,FALSE,Active +GARD:707,Legacy,GARD,,,,,,,,,,,,Anorectal atresia,TRUE,FALSE,Retired +GARD:7071,Active,Orphanet,ORPHA:79269,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type A,"[Heparan sulfamidase deficiency, MPS3A, MPSIIIA, Mucopolysaccharidosis type 3A, Mucopolysaccharidosis type IIIA]",,[252900],,,,,Mucopolysaccharidosis type IIIA,TRUE,FALSE,Active +GARD:7072,Active,Orphanet,ORPHA:79270,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type B,"[MPS3B, MPSIIIB, Mucopolysaccharidosis type 3B, Mucopolysaccharidosis type IIIB, N-acetyl-alpha-glucosaminidase deficiency]",,[252920],,,,,Mucopolysaccharidosis type IIIB,TRUE,FALSE,Active +GARD:7073,Active,Orphanet,ORPHA:79271,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type C,"[HGSNAT deficiency, Heparan-alpha-glucosaminide N-acetyltransferase deficiency, MPS3C, MPSIIIC, Mucopolysaccharidosis type 3C, Mucopolysaccharidosis type IIIC]",,[252930],,,,,Mucopolysaccharidosis type IIIC,TRUE,FALSE,Active +GARD:7074,Active,Orphanet,ORPHA:79272,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type D,"[GNS deficiency, Glucosamine N-acetyl-6-sulfatase deficiency, MPS3D, MPSIIID, Mucopolysaccharidosis type 3D, Mucopolysaccharidosis type IIID]",,[252940],,,,,Mucopolysaccharidosis type IIID,TRUE,FALSE,Active +GARD:7079,Active,Orphanet,ORPHA:102,Disorder,[Disease],Multiple system atrophy,"[MSA, Multisystem atrophy]","Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.",[146500],,,,,Multiple system atrophy,TRUE,FALSE,Active +GARD:708,Legacy,GARD,,,,,,,,,,,,Anonychia ectrodactyly,TRUE,FALSE,Active +GARD:709,Legacy,GARD,,,,,,,,,,,,Anonychia total with microcephaly,TRUE,FALSE,Retired +GARD:7095,Active,Orphanet,ORPHA:583,Disorder,[Disease],Mucopolysaccharidosis type 6,"[ARSB deficiency, ASB deficiency, Arylsulfatase B deficiency, MPS6, MPSVI, Maroteaux-Lamy disease, Mucopolysaccharidosis type VI, N-acetylgalactosamine 4-sulfatase deficiency]","Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.",[253200],,,,,Mucopolysaccharidosis type VI,TRUE,FALSE,Active +GARD:7096,Active,Orphanet,ORPHA:584,Disorder,[Disease],Mucopolysaccharidosis type 7,"[Beta-glucuronidase deficiency, MPS7, MPSVII, Mucopolysaccharidosis type VII, Sly disease]","A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.",[253220],,,,,Mucopolysaccharidosis type VII,TRUE,FALSE,Active +GARD:7097,Active,Orphanet,ORPHA:53271,Disorder,[Malformation syndrome],Muenke syndrome,,"Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.",[602849],,,,,Muenke Syndrome,TRUE,FALSE,Active +GARD:7099,Legacy,GARD,,,,,,,,,,,,Mullerian agenesis,TRUE,FALSE,Retired +GARD:71,Legacy,GARD,,,,,,,,,,,,Human granulocytic ehrlichiosis,TRUE,FALSE,Active +GARD:710,Active,Orphanet,ORPHA:90390,Subtype of disorder,[Clinical subtype],Anonychia-onychodystrophy syndrome,,,"[107000, 614149]",,,,,Onychodystrophy-anonychia,TRUE,FALSE,Active +GARD:7100,Active,Orphanet,ORPHA:73217,Group of disorders,[Clinical group],Müllerian aplasia,"[Aplasia of the Müllerian ducts, Müllerian duct failure]",,,,,,,Mullerian aplasia,TRUE,FALSE,Active +GARD:7103,Active,Orphanet,ORPHA:139436,Disorder,[Disease],Multicentric reticulohistiocytosis,"[Giant cell histiocytomatosis, Lipoid dermatoarthritis]",A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.,,,,,,Multicentric reticulohistiocytosis,TRUE,FALSE,Active +GARD:7104,Legacy,GARD,,,,,,,,,,,,"Multiple carboxylase deficiency, propionic acidemia",TRUE,FALSE,Retired +GARD:7108,Active,Orphanet,ORPHA:29073,Disorder,[Disease],Multiple myeloma,"[Kahler disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma]","Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).",[254500],,,,,Multiple myeloma,TRUE,FALSE,Active +GARD:711,Legacy,GARD,,,,,,,,,,,,Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly,TRUE,FALSE,Active +GARD:7111,Active,Orphanet,ORPHA:2990,Disorder,[Malformation syndrome],Autosomal recessive multiple pterygium syndrome,"[Autosomal recessive non-lethal multiple pterygium syndrome, EVMPS, Escobar syndrome, Escobar variant multiple pterygium syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.","[618469, 265000]",,,,,Multiple pterygium syndrome Escobar type,TRUE,FALSE,Active +GARD:7116,Legacy,GARD,,,,,,,,,,,,Mumps,TRUE,FALSE,Active +GARD:7117,Legacy,GARD,,,,,,,,,,,,Munchausen by proxy syndrome,TRUE,FALSE,Active +GARD:7121,Legacy,GARD,,,,,,,,,,,,Myalgic encephalomyelitis/chronic fatigue syndrome,FALSE,FALSE,Active +GARD:7122,Active,Orphanet,ORPHA:589,Disorder,[Disease],Myasthenia gravis,"[Acquired myasthenia, Autoimmune myasthenia gravis]","Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.","[607085, 159400, 254200]",,,,,Myasthenia gravis,TRUE,FALSE,Active +GARD:7123,Legacy,GARD,,,,,,,,,,,,Mycobacterium Avium Complex infections,TRUE,FALSE,Active +GARD:7125,Legacy,GARD,,,,,,,,,,,,Mycoplasmal pneumonia,TRUE,FALSE,Active +GARD:713,Active,Orphanet,ORPHA:2470,Disorder,[Malformation syndrome],Matthew-Wood syndrome,"[Anophthalmia-pulmonary hypoplasia syndrome, PDAC syndrome, Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome, Spear syndrome]","Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.","[601186, 615524]",,,,,Microphthalmia syndromic 9,TRUE,FALSE,Active +GARD:7130,Legacy,GARD,,,,,,,,,,,,Myelitis,TRUE,FALSE,Active +GARD:7132,Active,Orphanet,ORPHA:52688,Group of disorders,[Clinical group],Myelodysplastic syndrome,,,[614286],,,,,Myelodysplastic syndromes,TRUE,FALSE,Active +GARD:7137,Legacy,GARD,,,,,,,,,,,,Myocarditis,TRUE,FALSE,Active +GARD:7139,Active,Orphanet,ORPHA:36899,Disorder,[Disease],Myoclonus-dystonia syndrome,"[Alcohol-responsive dystonia, Hereditary essential myoclonus, Myoclonic dystonia]",Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.,"[616398, 159900]",,,,,Myoclonus-dystonia,TRUE,FALSE,Active +GARD:714,Legacy,GARD,,,,,,,,,,,,Anophthalmia cleft lip palate hypothalamic disorder,TRUE,FALSE,Retired +GARD:7140,Active,Orphanet,ORPHA:98261,Group of disorders,[Clinical group],Progressive myoclonic epilepsy,"[PME, Progressive myoclonus epilepsy]",,,,,,,Progressive myoclonic epilepsy,TRUE,FALSE,Active +GARD:7142,Legacy,GARD,,,,,,,,,,,,Myoclonus epilepsy,TRUE,FALSE,Active +GARD:7143,Legacy,GARD,,,,,,,,,,,,Myoclonus epilepsy partial seizure,TRUE,FALSE,Active +GARD:7144,Active,Orphanet,ORPHA:551,Disorder,[Disease],MERRF,"[Fukuhara syndrome, Myoclonus epilepsy associated with ragged-red fibres]",MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.,[545000],,,,,Myoclonic epilepsy with ragged red fibers,TRUE,FALSE,Active +GARD:7145,Legacy,GARD,,,,,,,,,,,,Myofibrillar lysis,TRUE,FALSE,Retired +GARD:7146,Active,Orphanet,ORPHA:178342,Disorder,[Disease],Inflammatory myofibroblastic tumor,,"Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.",,,,,,Inflammatory myofibroblastic tumor,TRUE,FALSE,Active +GARD:7148,Active,Orphanet,ORPHA:53698,Disorder,[Disease],Hyaline body myopathy,,,"[255160, 608358]",,,,,Myosin storage myopathy,TRUE,FALSE,Active +GARD:715,Legacy,GARD,,,,,,,,,,,,Anophthalmia cleft palate micrognathia,TRUE,FALSE,Active +GARD:7153,Legacy,GARD,,,,,,,,,,,,Myotonia atrophica,TRUE,FALSE,Retired +GARD:7157,Active,Orphanet,ORPHA:99967,Subtype of disorder,[Histopathological subtype],Myxoid/round cell liposarcoma,[MRCLS],"Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.",[613488],,,,,Myxoid liposarcoma,TRUE,FALSE,Active +GARD:7158,Active,Orphanet,ORPHA:927,Disorder,[Disease],Hyperammonemia due to N-acetylglutamate synthase deficiency,[NAGS deficiency],"A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.",[237310],,,,,N-acetylglutamate synthase deficiency,TRUE,FALSE,Active +GARD:716,Legacy,GARD,,,,,,,,,,,,Anophthalmia esophageal atresia cryptorchidism,TRUE,FALSE,Active +GARD:7160,Active,Orphanet,ORPHA:2614,Disorder,[Malformation syndrome],Nail-patella syndrome,"[Onychoosteodysplasia, Turner-Kieser syndrome]","A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.",[161200],,,,,Nail-patella syndrome,TRUE,FALSE,Active +GARD:7161,Active,Orphanet,ORPHA:627,Disorder,[Malformation syndrome],Nance-Horan syndrome,,"Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.",[302350],,,,,Nance-Horan syndrome,TRUE,FALSE,Active +GARD:7162,Active,Orphanet,ORPHA:2073,Disorder,[Disease],Narcolepsy type 1,"[Gélineau disease, Narcolepsy-cataplexy]","A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).","[612417, 161400, 609039, 605841, 612851, 614223, 614250]",,,,,Narcolepsy,TRUE,FALSE,Active +GARD:7163,Active,Orphanet,ORPHA:150,Disorder,[Disease],Nasopharyngeal carcinoma,[Squamous cell carcinoma of the nasopharynx],Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.,"[607107, 617075, 161550]",,,,,Nasopharyngeal carcinoma,TRUE,FALSE,Active +GARD:7166,Active,Orphanet,ORPHA:377,Disorder,[Malformation syndrome],Gorlin syndrome,"[Basal cell nevus syndrome, Gorlin-Goltz syndrome, NBCCS, Nevoid basal cell carcinoma syndrome]","A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.",[109400],,,,,Nevoid basal cell carcinoma syndrome,TRUE,FALSE,Active +GARD:7169,Legacy,GARD,,,,,,,,,,,,Neisseria meningitidis infection,TRUE,FALSE,Active +GARD:717,Active,Orphanet,ORPHA:1101,Disorder,[Malformation syndrome],Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,[Cassia Stocco dos Santos syndrome],"A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.",,,,,,Anophthalmia megalocornea cardiopathy skeletal anomalies,TRUE,FALSE,Active +GARD:7170,Active,Orphanet,ORPHA:199244,Disorder,[Clinical syndrome],Nelson syndrome,,"A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.",,,,,,Nelson syndrome,TRUE,FALSE,Active +GARD:7171,Active,Orphanet,ORPHA:171439,Disorder,[Disease],Childhood-onset nemaline myopathy,[Mild nemaline myopathy],"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.","[615731, 609284, 609285, 161800, 617336, 256030, 609273]",,,,,Childhood-onset nemaline myopathy,TRUE,FALSE,Active +GARD:7172,Active,Orphanet,ORPHA:446,Disorder,[Disease],Neonatal hemochromatosis,,Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.,[231100],,,,,Neonatal hemochromatosis,TRUE,FALSE,Active +GARD:7173,Legacy,GARD,,,,,,,,,,,,Neonatal herpes,TRUE,FALSE,Active +GARD:7177,Legacy,GARD,,,,,,,,,,,,Nephrocalcinosis,TRUE,FALSE,Active +GARD:7178,Active,Orphanet,ORPHA:223,Disorder,[Disease],Nephrogenic diabetes insipidus,,"A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.","[125800, 304800]",,,,,Nephrogenic diabetes insipidus,TRUE,FALSE,Active +GARD:7179,Legacy,GARD,,,,,,,,,,,,Nephrosclerosis,TRUE,FALSE,Active +GARD:718,Legacy,GARD,,,,,,,,,,,,Anophthalmia microcephaly hypogonadism,TRUE,FALSE,Retired +GARD:7180,Active,Orphanet,ORPHA:252131,Group of disorders,[Category],Benign peripheral nerve sheath tumor,[BPNST],,,,,,,Benign peripheral nerve sheath tumor,FALSE,FALSE,Draft +GARD:7182,Active,Orphanet,ORPHA:634,Disorder,[Disease],Netherton syndrome,"[Bamboo hair syndrome, Comèl-Netherton syndrome, NS]","Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.",[256500],,,,,Netherton syndrome,TRUE,FALSE,Active +GARD:7183,Active,Orphanet,ORPHA:87876,Disorder,[Disease],Sialidosis type 2,[Infantile dysmorphic sialidosis],"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.","[256550, 256150]",,,,,"Sialidosis, type II",TRUE,FALSE,Active +GARD:7185,Active,Orphanet,ORPHA:635,Disorder,[Disease],Neuroblastoma,,"Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.","[613016, 613013, 256700, 613017, 616792, 613014, 613015]",,,,,Neuroblastoma,TRUE,FALSE,Active +GARD:7186,Active,Orphanet,ORPHA:2481,Disorder,[Disease],Neurocutaneous melanocytosis,"[NCM, Neurocutaneous melanosis]","Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.",[249400],,,,,Neurocutaneous melanosis,TRUE,FALSE,Active +GARD:7189,Legacy,GARD,,,,,,,,,,,,Neuroendocrine carcinoma of the cervix,TRUE,FALSE,Active +GARD:719,Active,Orphanet,ORPHA:1104,Disorder,[Malformation syndrome],Anophthalmia plus syndrome,"[Fryns microphthalmia syndrome, Microphthalmia with facial clefting]","A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.",[600776],,,,,Anophthalmia plus syndrome,TRUE,FALSE,Active +GARD:7190,Active,Orphanet+OMIM,OMIM:604154,Subtype of disorder,[Disease subtype],Alzheimer disease 15,[Alzheimer disease without neurofibrillary tangles],"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[604154],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Alzheimer's disease without neurofibrillary tangles,TRUE,FALSE,Active +GARD:7191,Active,Orphanet,ORPHA:252183,Disorder,[Disease],Neurofibroma,,"A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.",,,,,,Neurofibroma,TRUE,FALSE,Active +GARD:7193,Active,Orphanet,ORPHA:637,Disorder,[Disease],Neurofibromatosis type 2,[NF2],Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.,[101000],,,,,Neurofibromatosis type 2,TRUE,FALSE,Active +GARD:7194,Legacy,GARD,,,,,,,,,,,,Neurogenic hypertension,TRUE,FALSE,Retired +GARD:7195,Active,Orphanet,ORPHA:94093,Disorder,[Disease],Neuroleptic malignant syndrome,,"A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.",,,,,,Neuroleptic malignant syndrome,TRUE,FALSE,Active +GARD:7196,Legacy,GARD,,,,,,,,,,,,Neuroma biliary tract,TRUE,FALSE,Active +GARD:7198,Legacy,GARD,,,,,,,,,,,,Neuronal interstitial dysplasia,TRUE,FALSE,Active +GARD:7199,Legacy,GARD,,,,,,,,,,,,Neurotoxicity syndromes,TRUE,FALSE,Active +GARD:72,Legacy,GARD,,,,,,,,,,,,Human monocytic ehrlichiosis,TRUE,FALSE,Active +GARD:7201,Active,Orphanet,ORPHA:83471,Disorder,[Disease],Thymic aplasia,[Nezelof syndrome],"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.",[242700],,,,,Immune defect due to absence of thymus,TRUE,FALSE,Active +GARD:7206,Active,Orphanet,ORPHA:77292,Disorder,[Disease],Infantile neurovisceral acid sphingomyelinase deficiency,"[Infantile neurovisceral ASMD, NPD-A, Niemann-Pick disease type A]","A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders.",[257200],,,,,Niemann-Pick disease type A,TRUE,FALSE,Active +GARD:7207,Active,Orphanet,ORPHA:646,Disorder,[Disease],Niemann-Pick disease type C,,"A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.","[257220, 607625]",,,,,Niemann-Pick disease type C1,TRUE,FALSE,Active +GARD:7208,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type D,TRUE,FALSE,Retired +GARD:7210,Active,Orphanet,ORPHA:31204,Disorder,[Disease],Nocardiosis,,"Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.",,,,,,Nocardiosis,TRUE,FALSE,Active +GARD:7216,Legacy,GARD,,,,,,,,,,,,Non-lissencephalic cortical dysplasia,TRUE,FALSE,Active +GARD:7219,Active,Orphanet,ORPHA:407,Disorder,[Disease],Glycine encephalopathy,"[NKA, Non-ketotic hyperglycinemia]","Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.",[605899],,,,,Glycine encephalopathy,TRUE,FALSE,Active +GARD:722,Active,Orphanet,ORPHA:1106,Disorder,[Malformation syndrome],Microphthalmia with limb anomalies,"[Anophthalmia-syndactyly syndrome, OAS, Ophthalmoacromelic syndrome, Waardenburg anophthalmia syndrome]","A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.",[206920],,,,,Anophthalmos with limb anomalies,TRUE,FALSE,Active +GARD:7220,Active,Orphanet,ORPHA:79452,Disorder,[Disease],Milroy disease,"[Hereditary lymphedema type I, Nonne-Milroy lymphedema]","Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.","[613480, 153100, 615907, 611944]",,,,,Milroy disease,TRUE,FALSE,Active +GARD:7222,Legacy,GARD,,,,,,,,,,,,Nonsyndromic hereditary sensorineural hearing loss,TRUE,FALSE,Active +GARD:7223,Active,Orphanet+OMIM,OMIM:163950,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 1,"[female pseudo-turner syndrome, Noonan syndrome, turner phenotype with normal karyotype, male turner syndrome]","Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by {102:Tartaglia et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Noonan Syndrome\n\nSee also NS3 ({609942}), caused by mutation in the KRAS gene ({190070}); NS4 ({610733}), caused by mutation in the SOS1 gene ({182530}); NS5 ({611553}), caused by mutation in the RAF1 gene ({164760}); NS6 ({613224}), caused by mutation in the NRAS gene ({164790}); NS7 ({613706}), caused by mutation in the BRAF gene ({164757}); NS8 ({615355}), caused by mutation in the RIT1 gene ({609591}); NS9 ({616559}), caused by mutation in the SOS2 gene ({601247}); NS10 ({616564}), caused by mutation in the LZTR1 gene ({600574}); NS11 ({618499}), caused by mutation in the MRAS gene ({608435}); NS12 ({618624}), caused by mutation in the RRAS2 gene ({600098}); and NS13 ({619087}), caused by mutation in the MAPK1 gene ({176948}).\n\nAutosomal recessive forms of Noonan syndrome include NS2 ({605275}), caused by mutation in the LZTR1 gene ({600574}), and NS14 ({619745}), caused by mutation in the SPRED2 gene ({609292}).\n\nSee also Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1; {607721}), caused by mutation in the SHOC2 gene ({602775}); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; {617506}), caused by mutation in the PPP1CB gene ({600590}); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; {613563}), caused by mutation in the CBL gene ({165360}).\n\nMutations in the neurofibromin gene (NF1; {613113}), which is the site of mutations causing classic neurofibromatosis type I (NF1; {162200}), have been found in neurofibromatosis-Noonan syndrome (NFNS; {601321}).",[163950],[648],[Noonan syndrome],[10955],,Noonan syndrome 1,TRUE,FALSE,Active +GARD:7224,Active,Orphanet,ORPHA:649,Disorder,[Malformation syndrome],Norrie disease,"[Atrophia bulborum hereditaria, Episkopi blindness, Norrie-Warburg disease]","A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.",[310600],,,,,Norrie disease,TRUE,FALSE,Active +GARD:7225,Legacy,GARD,,,,,,,,,,,,Notalgia paresthetica,FALSE,FALSE,Active +GARD:7226,Active,Orphanet,ORPHA:510,Disorder,[Disease],Lesch-Nyhan syndrome,"[HPRT complete deficiency, HPRT deficiency grade IV, Hypoxanthine guanine phosphoribosyltransferase complete deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV]","Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.","[300322, 308950]",,,,,Lesch Nyhan syndrome,TRUE,FALSE,Active +GARD:7229,Legacy,GARD,,,,,,,,,,,,Familial hypertrophic cardiomyopathy,TRUE,FALSE,Active +GARD:7231,Legacy,GARD,,,,,,,,,,,,Ochronosis,TRUE,FALSE,Active +GARD:7236,Legacy,GARD,,,,,,,,,,,,Ocular melanoma,TRUE,FALSE,Active +GARD:7237,Legacy,GARD,,,,,,,,,,,,Ocular motility disorders,TRUE,FALSE,Retired +GARD:7238,Legacy,GARD,,,,,,,,,,,,Ocular toxoplasmosis,TRUE,FALSE,Active +GARD:7239,Active,Orphanet,ORPHA:2710,Disorder,[Malformation syndrome],Oculodentodigital dysplasia,"[Meyer-Schwickerath syndrome, ODDD syndrome, Oculodentoosseous dysplasia]","A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.","[257850, 164200]",,,,,Oculodentodigital dysplasia,TRUE,FALSE,Active +GARD:7245,Active,Orphanet,ORPHA:270,Disorder,[Disease],Oculopharyngeal muscular dystrophy,[OPMD],"A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.",[164300],,,,,Oculopharyngeal muscular dystrophy,TRUE,FALSE,Active +GARD:7247,Legacy,GARD,,,,,,,,,,,,Odontoma,TRUE,FALSE,Active +GARD:7248,Legacy,GARD,,,,,,,,,,,,Ogilvie syndrome,TRUE,FALSE,Active +GARD:725,Legacy,GARD,,,,,,,,,,,,Anotia facial palsy cardiac defect,TRUE,FALSE,Active +GARD:7250,Legacy,GARD,,,,,,,,,,,,Olivopontocerebellar atrophy,TRUE,FALSE,Active +GARD:7251,Active,Orphanet,ORPHA:296,Disorder,[Disease],Ollier disease,[Dyschondroplasia],A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.,[166000],,,,,Ollier disease,TRUE,FALSE,Active +GARD:7252,Active,Orphanet,ORPHA:2737,Disorder,[Disease],Onchocerciasis,,"A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.",,,,,,Onchocerciasis,TRUE,FALSE,Active +GARD:7260,Legacy,GARD,,,,,,,,,,,,Oral leukoplakia,TRUE,FALSE,Active +GARD:7261,Legacy,GARD,,,,,,,,,,,,Oral lichen planus,FALSE,FALSE,Active +GARD:7263,Legacy,GARD,,,,,,,,,,,,Oral squamous cell carcinoma,TRUE,FALSE,Active +GARD:7264,Active,Orphanet,ORPHA:357154,Disorder,[Disease],Oral submucous fibrosis,[OSMF],"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.",,,,,,Oral submucous fibrosis,TRUE,FALSE,Active +GARD:7266,Legacy,GARD,,,,,,,,,,,,Oral pharyngeal disorders,TRUE,FALSE,Retired +GARD:7269,Active,Orphanet,ORPHA:147,Disorder,[Disease],Carbamoyl-phosphate synthetase 1 deficiency,"[CPS1 deficiency, CPS1D, Carbamoyl-phosphate synthetase I deficiency, Carbamoyl-phosphate synthetase deficiency]","A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.",[237300],,,,,Carbamoyl phosphate synthetase 1 deficiency,TRUE,FALSE,Active +GARD:7272,Legacy,GARD,,,,,,,,,,,,Ornithinemia,TRUE,FALSE,Active +GARD:728,Legacy,GARD,,,,,,,,,,,,"Anterior pituitary insufficiency, familial",TRUE,FALSE,Retired +GARD:7281,Legacy,GARD,,,,,,,,,,,,Osteochondroma,TRUE,FALSE,Active +GARD:7284,Active,Orphanet,ORPHA:668,Disorder,[Disease],Osteosarcoma,[Osteogenic sarcoma],Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.,[259500],,,,,Osteosarcoma,TRUE,FALSE,Active +GARD:7285,Legacy,GARD,,,,,,,,,,,,Osteomalacia,TRUE,FALSE,Active +GARD:7286,Legacy,GARD,,,,,,,,,,,,Osteomyelitis,TRUE,FALSE,Active +GARD:7293,Legacy,GARD,,,,,,,,,,,,Oto-Palatal-digital syndrome,TRUE,FALSE,Active +GARD:7295,Active,Orphanet,ORPHA:213500,Group of disorders,[Category],Ovarian cancer,[Ovarian malignant tumor],,,,,,,Ovarian cancer,TRUE,FALSE,Active +GARD:7296,Active,Orphanet,ORPHA:213512,Disorder,[Disease],Malignant mixed Müllerian tumor of the ovary,"[MMMT of the ovary, Ovarian carcinosarcoma, Ovarian malignant mixed Müllerian tumor, Ovarian malignant mixed epithelial mesenchymal tumor]","Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.",,,,,,Ovarian carcinosarcoma,TRUE,FALSE,Active +GARD:7297,Legacy,GARD,,,,,,,,,,,,Ovarian remnant syndrome,TRUE,FALSE,Active +GARD:7299,Active,Orphanet,ORPHA:2796,Disorder,[Malformation syndrome],Pachydermoperiostosis,"[PDP, Touraine-Solente-Gole syndrome]","Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.","[259100, 167100, 614441]",,,,,Pachydermoperiostosis,TRUE,FALSE,Active +GARD:73,Active,Orphanet,ORPHA:101088,Subtype of disorder,[Clinical subtype],X-linked hyper-IgM syndrome,"[HIGM1, Hyper-IgM syndrome due to CD40 ligand deficiency, Hyper-IgM syndrome due to CD40L deficiency, Hyper-IgM syndrome type 1, XHIGM]",,[308230],,,,,Immunodeficiency with hyper IgM type 1,TRUE,FALSE,Active +GARD:730,Active,Orphanet,ORPHA:2194,Disorder,[Disease],Anti-HLA hyperimmunization,,An increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.,,,,,,Anti-HLA hyperimmunization,TRUE,FALSE,Active +GARD:7300,Legacy,GARD,,,,,,,,,,,,Pachygyria,TRUE,FALSE,Active +GARD:7303,Active,Orphanet,ORPHA:180275,Disorder,[Disease],Paget disease of the nipple,"[Mammary Paget disease, Paget disease of the breast, Paget's disease of the nipple]","Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.",,,,,,Paget disease of the breast,TRUE,FALSE,Active +GARD:7304,Legacy,GARD,,,,,,,,,,,,Palindromic rheumatism,TRUE,FALSE,Active +GARD:7305,Active,Orphanet,ORPHA:672,Disorder,[Malformation syndrome],Pallister-Hall syndrome,[Hypothalamic hamartoblastoma syndrome],"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.",[146510],,,,,Pallister-Hall syndrome,TRUE,FALSE,Active +GARD:7308,Legacy,GARD,,,,,,,,,,,,"Pancreatic cancer, childhood",TRUE,FALSE,Retired +GARD:731,Active,Orphanet,ORPHA:79,Disorder,[Disease],Congenital alpha2-antiplasmin deficiency,,"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).",[262850],,,,,"Anti-plasmin deficiency, congenital",TRUE,FALSE,Active +GARD:7311,Legacy,GARD,,,,,,,,,,,,Pancreatic islet cell tumors,TRUE,FALSE,Draft +GARD:7312,Active,Orphanet,ORPHA:66624,Disorder,[Disease],PANDAS,"[Pediatric autoimmune disorders associated with Streptococcus infections, Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections]",PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.,,,,,,Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections,TRUE,FALSE,Active +GARD:7313,Legacy,GARD,,,,,,,,,,,,Mesomelic dwarfism of hypoplastic tibia and radius type,TRUE,FALSE,Active +GARD:7318,Legacy,GARD,,,,,,,,,,,,Papilledema,TRUE,FALSE,Active +GARD:732,Legacy,GARD,,,,,,,,,,,,Antigen-peptide-transporter 2 deficiency,TRUE,FALSE,Active +GARD:7320,Legacy,GARD,,,,,,,,,,,,Optic neuritis,TRUE,FALSE,Active +GARD:7321,Active,Orphanet,ORPHA:86795,Group of disorders,[Clinical group],Localized lichen myxedematosus,[Papular mucinosis],"A group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.",,,,,,Papular mucinosis,TRUE,FALSE,Active +GARD:7322,Legacy,GARD,,,,,,,,,,,,Papular urticaria,TRUE,FALSE,Active +GARD:7323,Active,Orphanet,ORPHA:73260,Disorder,[Disease],Paracoccidioidomycosis,,"A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison's disease. The infectious agent, Paracoccidioides brasiliensis, is a fungus limited to Latin America.",,,,,,Paracoccidioidomycosis,TRUE,FALSE,Active +GARD:7324,Active,Orphanet+OMIM,OMIM:168000,Subtype of disorder,[Disease subtype],Paragangliomas 1,"[glomus jugulare tumors, paraganglioma, carotid body, chemodectomas, paragangliomata, paragangliomas, familial nonchromaffin, 1, Paragangliomas, familial, 1, glomus tumors, familial, 1, carotid body tumors]","Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors ({8:Baysal, 2002}; {42:Neumann et al., 2004}).\n\nThe triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad ({604287}). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy ({160980}).\n\n{9:Baysal (2008)} provided a review of the molecular pathogenesis of hereditary paraganglioma.\n\n<Subhead> Genetic Heterogeneity of Paragangliomas\n\nSee also PGL4 ({115310}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36; PGL3 ({605373}), caused by mutation in the SDHC gene ({602413}) on chromosome 1q21; PGL2 ({601650}), caused by mutation in the SDHAF2 gene ({613019}) on chromosome 11q13; PGL5 ({614165}), caused by mutation in the SDHA gene ({600857}) on chromosome 5p15; PGL6 ({618464}), caused by mutation in the SLC25A11 gene ({604165}) on chromosome 17p13; and PGL7 ({618475}), caused by mutation in the DLST gene ({126063}) on chromosome 14q24.",[168000],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 1,TRUE,FALSE,Active +GARD:7325,Active,Orphanet,ORPHA:684,Disorder,[Disease],Paramyotonia congenita of Von Eulenburg,[Paramyotonia congenita],Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness.,[168300],,,,,Paramyotonia congenita,TRUE,FALSE,Active +GARD:7326,Active,Orphanet,ORPHA:36388,Group of disorders,[Category],Paraneoplastic neurologic syndrome,[PNS],"Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.",,,,,,Paraneoplastic cerebellar degeneration,TRUE,FALSE,Active +GARD:7327,Legacy,GARD,,,,,,,,,,,,Paraplegia,TRUE,FALSE,Active +GARD:7328,Legacy,GARD,,,,,,,,,,,,Parapsoriasis,TRUE,FALSE,Active +GARD:7329,Active,Orphanet,ORPHA:143,Disorder,[Disease],Parathyroid carcinoma,,"A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.",[608266],,,,,Parathyroid carcinoma,TRUE,FALSE,Active +GARD:733,Legacy,GARD,,,,,,,,,,,,Antihypertensive drugs antenatal exposure,TRUE,FALSE,Retired +GARD:7331,Legacy,GARD,,,,,,,,,,,,Parenchymatous cortical degeneration of cerebellum,FALSE,FALSE,Draft +GARD:7335,Active,Orphanet,ORPHA:90035,Disorder,[Disease],Paroxysmal cold hemoglobinuria,"[Donath-Landsteiner hemolytic anemia, Donath-Landsteiner syndrome, PCH]","Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.",,,,,,Paroxysmal cold hemoglobinuria,TRUE,FALSE,Active +GARD:7337,Active,Orphanet,ORPHA:447,Disorder,[Disease],Paroxysmal nocturnal hemoglobinuria,"[Marchiafava-Micheli disease, PNH]","Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.","[300818, 615399]",,,,,Paroxysmal nocturnal hemoglobinuria,TRUE,FALSE,Active +GARD:7338,Active,Orphanet,ORPHA:1214,Disorder,[Disease],Progressive hemifacial atrophy,"[Hemifacial atrophy, PHA, Parry-Romberg syndrome, Progressive facial hemiatrophy, Romberg syndrome]","Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.",[141300],,,,,Progressive hemifacial atrophy,TRUE,FALSE,Active +GARD:7339,Legacy,GARD,,,,,,,,,,,,Pars planitis,TRUE,FALSE,Active +GARD:7341,Active,Orphanet,ORPHA:3378,Disorder,[Malformation syndrome],Trisomy 13,[Patau syndrome],"Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.",,,,,,Trisomy 13,TRUE,FALSE,Active +GARD:7342,Active,Orphanet+OMIM,OMIM:607411,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 1,,"Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. ({4:Mitchell et al., 1971}). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis ({7:Ramsay et al., 1987}). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases ({6:Polani and Campbell, 1960}; {2:Lamy et al., 1957}), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor ({5:Nguyen et al., 1997}) and by rare syndromic forms of PDA such as Char syndrome ({169100}), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B ({601601}) ({3:Mani et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Patent Ductus Arteriosus\n\nAutosomal dominant forms of patent ductus arteriosus include PDA2 ({617035}), caused by mutation in the TFAP2B gene ({601601}) on chromosome 6p12, and PDA3 ({617039}), caused by mutation in the PRDM6 gene ({616982}) on chromosome 5q23.\n\n{1:Hajj and Dagle (2012)} reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.",[607411],[466729],[Familial patent arterial duct],[17828],,Patent ductus arteriosus,TRUE,FALSE,Active +GARD:7343,Active,Orphanet,ORPHA:699,Disorder,[Disease],Pearson syndrome,,"Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.",[557000],,,,,Pearson syndrome,TRUE,FALSE,Active +GARD:7346,Legacy,GARD,,,,,,,,,,,,Pediatric T-cell leukemia,TRUE,FALSE,Active +GARD:7347,Active,Orphanet,ORPHA:817,Group of disorders,[Clinical group],Peeling skin syndrome,"[Deciduous skin, Familial continuous skin peeling syndrome, Idiopathic deciduous skin, Keratosis exfoliativa congenita, PSS, Peeling skin disease]","Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.",,,,,,Peeling skin syndrome,TRUE,FALSE,Active +GARD:7348,Legacy,GARD,,,,,,,,,,,,Cerebral sclerosis similar to Pelizaeus-Merzbacher disease,TRUE,FALSE,Active +GARD:735,Active,Orphanet,ORPHA:81,Disorder,[Disease],Antisynthetase syndrome,"[AS syndrome, Anti-Jo1 syndrome]","A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.",,,,,,Antisynthetase syndrome,TRUE,FALSE,Active +GARD:7350,Legacy,GARD,,,,,,,,,,,,Pelvic lipomatosis,TRUE,FALSE,Active +GARD:7352,Legacy,GARD,,,,,,,,,,,,Pemphigus,TRUE,FALSE,Active +GARD:7353,Legacy,GARD,,,,,,,,,,,,Pemphigus and fogo selvagem,TRUE,FALSE,Active +GARD:7354,Active,Orphanet,ORPHA:79481,Disorder,[Disease],Pemphigus foliaceus,,"A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.",,,,,,Pemphigus foliaceus,TRUE,FALSE,Active +GARD:7355,Active,Orphanet,ORPHA:704,Disorder,[Disease],Pemphigus vulgaris,,"A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.",[169610],,,,,Pemphigus vulgaris,TRUE,FALSE,Active +GARD:7359,Active,Orphanet,ORPHA:1335,Disorder,[Malformation syndrome],Pentalogy of Cantrell,"[Cantrell deformity, Cantrell syndrome, Thoraco-abdominal syndrome]","Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.",[313850],,,,,Pentalogy of Cantrell,TRUE,FALSE,Active +GARD:736,Legacy,GARD,,,,,,,,,,,,Hereditary antithrombin deficiency type I,TRUE,FALSE,Active +GARD:7360,Active,Orphanet,ORPHA:767,Disorder,[Disease],Polyarteritis nodosa,"[Küssmaul-Maier disease, PAN, Periarteritis nodosa]","A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.",,,,,,Polyarteritis nodosa,TRUE,FALSE,Active +GARD:7361,Legacy,GARD,,,,,,,,,,,,Perilymphatic fistula,TRUE,FALSE,Active +GARD:7362,Legacy,GARD,,,,,,,,,,,,Perimyositis,TRUE,FALSE,Retired +GARD:7366,Legacy,GARD,,,,,,,,,,,,Supratentorial primitive neuroectodermal tumor,TRUE,FALSE,Active +GARD:7368,Legacy,GARD,,,,,,,,,,,,Peripheral T-cell lymphoma,TRUE,FALSE,Active +GARD:7371,Active,Orphanet+OMIM,OMIM:300049,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 1,"[periventricular nodular heterotopia 4, formerly, heterotopia, familial nodular, nodular heterotopia, bilateral periventricular, heterotopia, periventricular, ehlers-danlos variant, Heterotopia, periventricular, x-linked dominant]","Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by {5:Fox et al., 1998}). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by {22:Reinstein et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Periventricular Nodular Heterotopia\n\nPeriventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 ({608097}), caused by mutation in the ARFGEF2 gene ({605371}) on chromosome 20q13; PVNH3 ({608098}), associated with anomalies of 5p; PVNH5 ({612881}), associated with deletions of chromosome 5q; PVNH6 ({615544}), caused by mutation in the ERMARD gene ({615532}) on chromosome 6q27; PVNH7 ({617201}), caused by mutation in the NEDD4L gene ({606384}) on chromosome 18q21; PVNH8 ({618185}), caused by mutation in the ARF1 gene ({103180}) on chromosome 1q42; and PVNH9 ({618918}), caused by mutation in the MAP1B gene ({157129}) on chromosome 5q13.\n\nThe form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1.",[300049],[98892],[Periventricular nodular heterotopia],[12724],,X-linked periventricular heterotopia,TRUE,FALSE,Active +GARD:7373,Legacy,GARD,,,,,,,,,,,,Perniosis,TRUE,FALSE,Active +GARD:7375,Legacy,GARD,,,,,,,,,,,,Persistent truncus arteriosus,TRUE,FALSE,Active +GARD:7377,Active,Orphanet,ORPHA:708,Disorder,[Morphological anomaly],Peters anomaly,[Peters congenital glaucoma],Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.,"[604229, 612968]",,,,,Peters anomaly,TRUE,FALSE,Active +GARD:7378,Active,Orphanet,ORPHA:2869,Disorder,[Disease],Peutz-Jeghers syndrome,"[Hamartomatous intestinal polyposis, PJS]","A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.",[175200],,,,,Peutz-Jeghers syndrome,TRUE,FALSE,Active +GARD:7379,Legacy,GARD,,,,,,,,,,,,Peyronie disease,FALSE,FALSE,Retired +GARD:738,Active,Orphanet,ORPHA:2037,Disorder,[Morphological anomaly],Congenital aortopulmonary window,"[Congenital aortopulmonary artery fistula, Congenital aortopulmonary septal defect]","A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.",,,,,,Aorta-pulmonary artery fistula,TRUE,FALSE,Active +GARD:7380,Active,Orphanet,ORPHA:710,Disorder,[Malformation syndrome],Pfeiffer syndrome,"[ACS5, Acrocephalosyndactyly type 5]","An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.",[101600],,,,,Pfeiffer syndrome,TRUE,FALSE,Active +GARD:7381,Active,Orphanet,ORPHA:526,Disorder,[Disease],Liddle syndrome,"[Pseudoaldosteronism, Pseudohyperaldosteronism type 1]",A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.,"[177200, 618114, 618126]",,,,,Liddle syndrome,TRUE,FALSE,Active +GARD:7383,Active,Orphanet,ORPHA:716,Disorder,[Disease],Phenylketonuria,"[PAH deficiency, PKU, Phenylalanine hydroxylase deficiency]","A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.",[261600],,,,,Phenylketonuria,TRUE,FALSE,Active +GARD:7385,Active,Orphanet,ORPHA:276621,Disorder,[Disease],Sporadic pheochromocytoma/secreting paraganglioma,,"A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.",,,,,,Pheochromocytoma,TRUE,FALSE,Active +GARD:7386,Legacy,GARD,,,,,,,,,,,,Philadelphia-negative chronic myeloid leukemia,TRUE,FALSE,Active +GARD:7387,Active,Orphanet,ORPHA:3103,Disorder,[Malformation syndrome],Roberts syndrome,"[Pseudothalidomide syndrome, Roberts-SC phocomelia syndrome, SC phocomelia, SC pseudothalidomide syndrome]","Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.",[268300],,,,,Roberts syndrome,TRUE,FALSE,Active +GARD:7389,Active,Orphanet,ORPHA:713,Disorder,[Disease],Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,"[GSD due to phosphoglycerate kinase 1 deficiency, Glycogenosis due to phosphoglycerate kinase 1 deficiency]","A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.",[300653],,,,,Phosphoglycerate kinase deficiency,TRUE,FALSE,Active +GARD:739,Active,Orphanet,ORPHA:1110,Disorder,[Malformation syndrome],Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,,"A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.",[107500],,,,,Aortic arch anomaly - peculiar facies - intellectual disability,TRUE,FALSE,Active +GARD:7392,Active,Orphanet,ORPHA:275864,Disorder,[Disease],Behavioral variant of frontotemporal dementia,[bv-FTD],"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.","[619132, 172700, 616437, 600274, 600795]",,,,,Behavioral variant of frontotemporal dementia,TRUE,FALSE,Active +GARD:7396,Active,Orphanet,ORPHA:66627,Disorder,[Disease],Tenosynovial giant cell tumor,"[Diffuse-type GCT, Diffuse-type giant cell tumor, Pigmented villonodular synovitis, TGCT, TSGCT]","A rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.",,,,,,Pigmented villonodular synovitis,TRUE,FALSE,Active +GARD:7397,Legacy,GARD,,,,,,,,,,,,Pinta,TRUE,FALSE,Active +GARD:7399,Active,Orphanet,ORPHA:231662,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type IA,"[Congenital IGHD type IA, Congenital isolated GH deficiency type IA, Congenital isolated growth hormone deficiency type IA]",,"[618160, 262400]",,,,,Isolated growth hormone deficiency type 1A,TRUE,FALSE,Active +GARD:740,Active,Orphanet,ORPHA:2299,Disorder,[Morphological anomaly],Aortic arch interruption,,A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.,,,,,,Aortic arch interruption,TRUE,FALSE,Active +GARD:7400,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides chronica,TRUE,FALSE,Active +GARD:7401,Active,Orphanet,ORPHA:2897,Disorder,[Disease],Pityriasis rubra pilaris,,"Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.",[173200],,,,,Pityriasis rubra pilaris,TRUE,FALSE,Active +GARD:7402,Legacy,GARD,,,,,,,,,,,,Placenta disorder,TRUE,FALSE,Active +GARD:7403,Active,Orphanet,ORPHA:99928,Disorder,[Disease],Placental site trophoblastic tumor,[PSST],"A rare gestational trophoblastic neoplasm characterized histologically by invasion of myometrium by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is usually absent and hemorrhage is mild. The tumor develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy.",,,,,,Trophoblastic tumor placental site,TRUE,FALSE,Active +GARD:7404,Legacy,GARD,,,,,,,,,,,,Anaplastic plasmacytoma,TRUE,FALSE,Active +GARD:7406,Legacy,GARD,,,,,,,,,,,,Plexosarcoma,TRUE,FALSE,Active +GARD:7409,Legacy,GARD,,,,,,,,,,,,Pneumocystis jirovecii pneumonia,TRUE,FALSE,Active +GARD:741,Active,Orphanet,ORPHA:1132,Group of disorders,[Category],Aortic arch defects,,,,,,,,Aortic arches defect,TRUE,FALSE,Active +GARD:7411,Active,Orphanet,ORPHA:2905,Disorder,[Disease],POEMS syndrome,"[Crow-Fukase syndrome, Osteosclerotic myeloma, PEP syndrome, Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome, Takatsuki syndrome]","POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.",,,,,,POEMS syndrome,TRUE,FALSE,Active +GARD:7412,Active,Orphanet,ORPHA:2911,Disorder,[Malformation syndrome],Poland syndrome,"[Poland anomaly, Poland sequence]","A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.",[173800],,,,,Poland syndrome,TRUE,FALSE,Active +GARD:7413,Active,Orphanet,ORPHA:2912,Disorder,[Disease],Poliomyelitis,,"Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.",,,,,,Poliomyelitis,TRUE,FALSE,Active +GARD:7414,Legacy,GARD,,,,,,,,,,,,Periarteritis nodosa,TRUE,FALSE,Retired +GARD:7415,Active,Orphanet,ORPHA:439729,Subtype of disorder,[Clinical subtype],Cutaneous polyarteritis nodosa,"[Cutaneous PAN, Cutaneous periarteritis nodosa]","Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.",,,,,,Cutaneous polyarteritis nodosa,TRUE,FALSE,Active +GARD:7417,Active,Orphanet,ORPHA:728,Disorder,[Disease],Relapsing polychondritis,[Polychondropathia],"A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.",,,,,,Relapsing polychondritis,TRUE,FALSE,Active +GARD:7419,Legacy,GARD,,,,,,,,,,,,Polycystic kidney disease,FALSE,FALSE,Active +GARD:742,Legacy,GARD,,,,,,,,,,,,Aortic dissection lentiginosis,TRUE,FALSE,Active +GARD:7421,Legacy,GARD,,,,,,,,,,,,Polycystic ovarian syndrome,FALSE,FALSE,Active +GARD:7422,Active,Orphanet,ORPHA:729,Disorder,[Disease],Polycythemia vera,"[Acquired primary erythrocytosis, Osler-Vaquez disease, PV, Polycythemia rubra vera, Vaquez disease]","Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.",[263300],,,,,Polycythemia vera,TRUE,FALSE,Active +GARD:7425,Active,Orphanet,ORPHA:732,Disorder,[Disease],Polymyositis,,"A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.",,,,,,Polymyositis,TRUE,FALSE,Active +GARD:743,Active,Orphanet,ORPHA:3193,Disorder,[Morphological anomaly],Supravalvular aortic stenosis,[SVAS],"A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).",[185500],,,,,Supravalvular aortic stenosis,TRUE,FALSE,Active +GARD:7430,Active,Orphanet,ORPHA:2940,Disorder,[Disease],Porencephaly,,"A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.","[175780, 614483]",,,,,Porencephaly,TRUE,FALSE,Active +GARD:7431,Legacy,GARD,,,,,,,,,,,,Eccrine porocarcinoma,TRUE,FALSE,Active +GARD:7433,Active,Orphanet,ORPHA:101330,Disorder,[Disease],Porphyria cutanea tarda,[PCT],Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.,"[176100, 176090]",,,,,Porphyria cutanea tarda,TRUE,FALSE,Active +GARD:7434,Legacy,GARD,,,,,,,,,,,,Post-infectious myocarditis,TRUE,FALSE,Retired +GARD:7437,Legacy,GARD,,,,,,,,,,,,Post-traumatic epilepsy,TRUE,FALSE,Active +GARD:7439,Active,Orphanet,ORPHA:93110,Disorder,[Morphological anomaly],Posterior urethral valve,[PUV],"A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.",[618612],,,,,Posterior urethral valves,TRUE,FALSE,Active +GARD:744,Legacy,GARD,,,,,,,,,,,,Aortic valves stenosis of the child,TRUE,FALSE,Active +GARD:7444,Legacy,GARD,,,,,,,,,,,,Smallpox,TRUE,FALSE,Active +GARD:7446,Active,Orphanet,ORPHA:95708,Group of disorders,[Category],Rare precocious puberty,,,,,,,,Precocious puberty,TRUE,FALSE,Active +GARD:745,Legacy,GARD,,,,,,,,,,,,Aortopulmonary window,TRUE,FALSE,Active +GARD:7455,Legacy,GARD,,,,,,,,,,,,Primary agammaglobulinemia,TRUE,FALSE,Active +GARD:7456,Legacy,GARD,,,,,,,,,,,,Primary hyperaldosteronism,FALSE,FALSE,Active +GARD:7459,Active,Orphanet,ORPHA:186,Disorder,[Disease],Primary biliary cholangitis,"[Hanot syndrome, PBC, Primary biliary cirrhosis]","A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.","[614221, 613007, 109720, 613008, 614220]",,,,,Primary biliary cholangitis,TRUE,FALSE,Active +GARD:746,Legacy,GARD,,,,,,,,,,,,Apert like polydactyly syndrome,TRUE,FALSE,Retired +GARD:7465,Legacy,GARD,,,,,,,,,,,,Prinzmetal's variant angina,TRUE,FALSE,Active +GARD:7467,Active,Orphanet,ORPHA:740,Disorder,[Disease],Hutchinson-Gilford progeria syndrome,"[HGPS, Progeria]","Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).",[176670],,,,,Progeria,TRUE,FALSE,Active +GARD:7468,Active,Orphanet,ORPHA:217260,Disorder,[Disease],Progressive multifocal leukoencephalopathy,"[PML, Progressive multifocal leukoencephalitis]",,,,,,,Progressive multifocal leukoencephalopathy,TRUE,FALSE,Active +GARD:7471,Active,Orphanet,ORPHA:683,Disorder,[Disease],Progressive supranuclear palsy,[PSP syndrome],"A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.","[601104, 260540, 610898, 609454]",,,,,Progressive supranuclear palsy,TRUE,FALSE,Active +GARD:7473,Active,Orphanet,ORPHA:742,Disorder,[Disease],Prolidase deficiency,[Hyperimidodipeptiduria],"Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.",[170100],,,,,Prolidase deficiency,TRUE,FALSE,Active +GARD:7475,Active,Orphanet,ORPHA:744,Disorder,[Malformation syndrome],Proteus syndrome,[Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome],"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.",[176920],,,,,Proteus syndrome,TRUE,FALSE,Active +GARD:7476,Legacy,GARD,,,,,,,,,,,,Protoporphyria,TRUE,FALSE,Active +GARD:7479,Active,Orphanet,ORPHA:2970,Disorder,[Malformation syndrome],Prune belly syndrome,"[Abdominal muscle deficiency syndrome, Eagle-Barret syndrome, Obrinsky syndrome, Triad syndrome]","A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.",[100100],,,,,Prune belly syndrome,TRUE,FALSE,Active +GARD:748,Active,Orphanet,ORPHA:1113,Disorder,[Malformation syndrome],Aphalangy-syndactyly-microcephaly syndrome,,"An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.",[600384],,,,,Aphalangia partial with syndactyly and duplication of metatarsal IV,TRUE,FALSE,Active +GARD:7480,Legacy,GARD,,,,,,,,,,,,Prurigo nodularis,TRUE,FALSE,Active +GARD:7482,Active,Orphanet,ORPHA:132,Disorder,[Disease],Butyrylcholinesterase deficiency,[Pseudocholinesterase deficiency],"Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.",[617936],,,,,Pseudocholinesterase deficiency,TRUE,FALSE,Active +GARD:7486,Active,Orphanet,ORPHA:79443,Disorder,[Disease],Pseudohypoparathyroidism type 1A,"[AHO-PHP syndrome Ia, Albright hereditary osteodystrophy-PHP syndrome Ia]","Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).",[103580],,,,,Pseudohypoparathyroidism type 1A,TRUE,FALSE,Active +GARD:7487,Legacy,GARD,,,,,,,,,,,,Pseudomonas stutzeri infections,TRUE,FALSE,Active +GARD:7488,Active,Orphanet,ORPHA:26790,Disorder,[Disease],Pseudomyxoma peritonei,"[Adenomucinosis, Gelatinous ascites, PMP]",Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.,,,,,,Pseudomyxoma peritonei,TRUE,FALSE,Active +GARD:749,Legacy,GARD,,,,,,,,,,,,Aplasia cutis autosomal recessive,TRUE,FALSE,Retired +GARD:7492,Legacy,GARD,,,,,,,,,,,,Psittacosis,TRUE,FALSE,Active +GARD:7499,Active,Orphanet,ORPHA:747,Disorder,[Disease],Autoimmune pulmonary alveolar proteinosis,"[Autoimmune PAP, aPAP]",A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency.,[610910],,,,,Autoimmune pulmonary alveolar proteinosis,TRUE,FALSE,Active +GARD:7501,Active,Orphanet,ORPHA:182090,Group of disorders,[Category],Pulmonary arterial hypertension,[PAH],"Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).",,,,,,Pulmonary arterial hypertension,TRUE,FALSE,Active +GARD:7503,Active,Orphanet,ORPHA:580951,Disorder,[Disease],Punctate inner choroidopathy,,"A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.",,,,,,Punctate inner choroidopathy,TRUE,FALSE,Active +GARD:7504,Legacy,GARD,,,,,,,,,,,,Pure red cell aplasia,TRUE,FALSE,Active +GARD:7507,Legacy,GARD,,,,,,,,,,,,Hereditary orotic aciduria without megaloblastic anaemia,TRUE,FALSE,Retired +GARD:7508,Legacy,GARD,,,,,,,,,,,,Purpura simplex,FALSE,FALSE,Active +GARD:751,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita dominant,TRUE,FALSE,Retired +GARD:7510,Active,Orphanet,ORPHA:48104,Disorder,[Disease],Pyoderma gangrenosum,,Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.,,,,,,Pyoderma gangrenosum,TRUE,FALSE,Active +GARD:7512,Active,Orphanet,ORPHA:3008,Disorder,[Disease],Pyruvate carboxylase deficiency,"[Ataxia with lactic acidosis type 2, Ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency]","Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.",[266150],,,,,Pyruvate carboxylase deficiency,TRUE,FALSE,Active +GARD:7513,Active,Orphanet,ORPHA:765,Disorder,[Disease],Pyruvate dehydrogenase deficiency,"[PDH, PDHC, Pyruvate dehydrogenase complex deficiency]","Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).","[246900, 608782, 245348, 312170, 614111, 245349]",,,,,Pyruvate dehydrogenase complex deficiency,TRUE,FALSE,Active +GARD:7514,Active,Orphanet,ORPHA:766,Disorder,[Disease],Hemolytic anemia due to red cell pyruvate kinase deficiency,[Pyruvate kinase deficiency of erythrocytes],"A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.",[266200],,,,,Pyruvate kinase deficiency,TRUE,FALSE,Active +GARD:7515,Active,Orphanet,ORPHA:781,Disorder,[Disease],Q fever,"[Coxiellosis, Infection due to Coxiella burnetii, Nine Mile fever, Quadrilateral fever, Query fever]","Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.",,,,,,Q fever,TRUE,FALSE,Active +GARD:7516,Active,Orphanet,ORPHA:770,Disorder,[Disease],Rabies,,Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.,,,,,,Rabies,TRUE,FALSE,Active +GARD:7517,Legacy,GARD,,,,,,,,,,,,Radiation induced angiosarcoma of the breast,TRUE,FALSE,Active +GARD:7519,Legacy,GARD,,,,,,,,,,,,Radiation induced cancer,TRUE,FALSE,Active +GARD:7523,Active,Orphanet,ORPHA:3019,Disorder,[Malformation syndrome],Ramon syndrome,[Cherubism-gingival fibromatosis-intellectual disability syndrome],"A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.",[266270],,,,,Ramon Syndrome,TRUE,FALSE,Active +GARD:7525,Active,Orphanet,ORPHA:3020,Disorder,[Disease],Ramsay Hunt syndrome,"[Facial nerve palsy due to VZV, Facial nerve palsy due to herpes zoster infection, Facial nerve paralysis due to VZV]","A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.",,,,,,Herpes zoster oticus,TRUE,FALSE,Active +GARD:7527,Legacy,GARD,,,,,,,,,,,,Rasmussen encephalitis,TRUE,FALSE,Active +GARD:753,Active,Orphanet,ORPHA:1116,Disorder,[Disease],Aplasia cutis congenita-intestinal lymphangiectasia syndrome,[Bronspiegel-Zelnick syndrome],"An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.",[207731],,,,,Aplasia cutis congenita intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:7533,Legacy,GARD,,,,,,,,,,,,Rectal neoplasm,TRUE,FALSE,Retired +GARD:7534,Legacy,GARD,,,,,,,,,,,,Rectosigmoid neoplasm,TRUE,FALSE,Retired +GARD:754,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita of limbs recessive,TRUE,FALSE,Active +GARD:7545,Legacy,GARD,,,,,,,,,,,,Renal cancer,TRUE,FALSE,Retired +GARD:7548,Active,Orphanet,ORPHA:69076,Disorder,[Disease],Familial renal glucosuria,"[Familial renal glycosuria, SGLT2 deficiency]","A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.",[233100],,,,,Renal glycosuria,TRUE,FALSE,Active +GARD:755,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita recessive,TRUE,FALSE,Retired +GARD:7551,Legacy,GARD,,,,,,,,,,,,Renal rickets,TRUE,FALSE,Active +GARD:7552,Active,Orphanet,ORPHA:314822,Group of disorders,[Clinical group],Primary renal tubular acidosis,,"A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.",,,,,,Renal tubular acidosis,TRUE,FALSE,Active +GARD:7555,Legacy,GARD,,,,,,,,,,,,Renoprival hypertension,TRUE,FALSE,Active +GARD:7559,Legacy,GARD,,,,,,,,,,,,Reticuloendotheliosis,TRUE,FALSE,Active +GARD:756,Active,Orphanet,ORPHA:1117,Disorder,[Disease],Aplasia cutis-myopia syndrome,[Gershoni-Baruch-Leibo syndrome],"A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.",[601075],,,,,Aplasia cutis myopia,TRUE,FALSE,Active +GARD:7563,Active,Orphanet,ORPHA:790,Disorder,[Disease],Retinoblastoma,,"A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.",[180200],,,,,Retinoblastoma,TRUE,FALSE,Active +GARD:7570,Active,Orphanet,ORPHA:3096,Disorder,[Disease],Reye syndrome,,"A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.",,,,,,Reye syndrome,TRUE,FALSE,Active +GARD:7572,Active,Orphanet,ORPHA:69077,Disorder,[Disease],Rhabdoid tumor,[Malignant rhabdoid tumor],"Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).","[613325, 609322]",,,,,Rhabdoid tumor,TRUE,FALSE,Active +GARD:7577,Legacy,GARD,,,,,,,,,,,,Rheumatoid vasculitis,TRUE,FALSE,Active +GARD:7578,Legacy,GARD,,,,,,,,,,,,Richter syndrome,TRUE,FALSE,Active +GARD:758,Legacy,GARD,,,,,,,,,,,,Apo A-I deficiency,TRUE,FALSE,Active +GARD:7581,Active,Orphanet,ORPHA:1764,Disorder,[Disease],Familial dysautonomia,"[HSAN3, Hereditary sensory and autonomic neuropathy type 3, Hereditary sensory and autonomic neuropathy type III, Riley-Day syndrome]","A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.",[223900],,,,,Familial dysautonomia,TRUE,FALSE,Active +GARD:7585,Active,Orphanet,ORPHA:83311,Disorder,[Disease],Rocky Mountain spotted fever,,"A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria Rickettsia rickettsii characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion.",,,,,,Rocky mountain spotted fever,TRUE,FALSE,Active +GARD:7588,Active,Orphanet,ORPHA:158014,Disorder,[Disease],Rosaï-Dorfman disease,"[Destombes-Rosaï-Dorfman disease, Rosaï-Dorfman-Destombes disease, SHML, Sinus histiocytosis with massive lymphadenopathy]","A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.",,,,,,Rosai-Dorfman disease,TRUE,FALSE,Active +GARD:759,Active,Orphanet,ORPHA:309020,Subtype of disorder,[Etiological subtype],Familial apolipoprotein C-II deficiency,"[Familial APOC2 deficiency, Familial apoC-II deficiency]",,[207750],,,,,Apolipoprotein C-II deficiency,TRUE,FALSE,Active +GARD:7593,Active,Orphanet,ORPHA:783,Disorder,[Malformation syndrome],Rubinstein-Taybi syndrome,"[Broad thumb-hallux syndrome, Broad thumbs-halluces syndrome]","A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.","[613684, 180849, 610543]",,,,,Rubinstein-Taybi syndrome,TRUE,FALSE,Active +GARD:7594,Legacy,GARD,,,,,,,,,,,,Rumination disorder,TRUE,FALSE,Active +GARD:7597,Legacy,GARD,,,,,,,,,,,,Sacral plexopathy,TRUE,FALSE,Active +GARD:7598,Active,Orphanet,ORPHA:794,Disorder,[Malformation syndrome],Saethre-Chotzen syndrome,"[ACS3, Acrocephalosyndactyly type 3, SCS]","A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.","[180750, 101400]",,,,,Saethre-Chotzen syndrome,TRUE,FALSE,Active +GARD:76,Active,Orphanet,ORPHA:238468,Disorder,[Disease],Hypohidrotic ectodermal dysplasia,"[Anhidrotic ectodermal dysplasia, HED]","A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.","[224900, 300291, 305100, 614940, 614941, 129490, 612132]",,,,,Hypohidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:7604,Active,Orphanet,ORPHA:309155,Subtype of disorder,[Clinical subtype],"Sandhoff disease, infantile form","[Hexosaminidases A and B deficiency, infantile form, Infantile GM2 gangliosidosis 0 variant]",,[268800],,,,,Sandhoff disease,TRUE,FALSE,Active +GARD:7606,Active,Orphanet,ORPHA:793,Disorder,[Disease],SAPHO syndrome,[Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome],"A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.",,,,,,SAPHO syndrome,TRUE,FALSE,Active +GARD:7607,Active,Orphanet,ORPHA:797,Disorder,[Disease],Sarcoidosis,"[Besnier-Boeck-Schaumann disease, Boeck sarcoid]","A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.","[612388, 181000, 612387]",,,,,Sarcoidosis,FALSE,FALSE,Active +GARD:7608,Active,Orphanet,ORPHA:431272,Disorder,[Disease],X-linked scapuloperoneal muscular dystrophy,"[X-linked SPMD, X-linked scapuloperoneal syndrome]","A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.",[300695],,,,,X-linked dominant scapuloperoneal myopathy,TRUE,FALSE,Active +GARD:7609,Legacy,GARD,,,,,,,,,,,,Pigmented purpuric dermatosis,TRUE,FALSE,Active +GARD:7610,Active,Orphanet,ORPHA:3135,Disorder,[Malformation syndrome],Familial Scheuermann disease,"[Familial Scheuermann juvenile kyphosis, Familial spinal osteochondrosis]","Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.",[181440],,,,,Scheuermann disease,TRUE,FALSE,Active +GARD:7611,Active,Orphanet,ORPHA:3143,Disorder,[Disease],Autoimmune polyendocrinopathy type 2,"[APS type 2, APS2, Autoimmune polyendocrine syndrome type 2, Autoimmune polyglandular syndrome type 2, Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome, Schmidt syndrome]","A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.",[269200],,,,,Autoimmune polyglandular syndrome type 2,TRUE,FALSE,Active +GARD:7615,Active,Orphanet,ORPHA:167635,Disorder,[Disease],Scleromyxedema,"[Arndt-Gottron disease, Generalized lichenoid papular eruption, Generalized papular and sclerodermoid lichen myxedematosus]","A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.",,,,,,Scleromyxedema,TRUE,FALSE,Active +GARD:7617,Active,Orphanet,ORPHA:454745,Disorder,[Disease],Kuru,,"A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades.",[245300],,,,,Kuru,TRUE,FALSE,Active +GARD:762,Legacy,GARD,,,,,,,,,,,,APUDoma,TRUE,FALSE,Retired +GARD:7624,Legacy,GARD,,,,,,,,,,,,Selenium poisoning,TRUE,FALSE,Active +GARD:7627,Active,Orphanet,ORPHA:3157,Disorder,[Malformation syndrome],Septo-optic dysplasia spectrum,"[De Morsier syndrome, SOD, Septo-optic dysplasia]","Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.",[182230],,,,,Septo-optic dysplasia spectrum,TRUE,FALSE,Active +GARD:7628,Active,Orphanet,ORPHA:183660,Group of disorders,[Clinical group],Severe combined immunodeficiency,[SCID],"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.",,,,,,Severe combined immunodeficiency,TRUE,FALSE,Active +GARD:7629,Active,Orphanet,ORPHA:3162,Disorder,[Disease],Sézary syndrome,[Sézary lymphoma],"Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).",,,,,,Sezary syndrome,TRUE,FALSE,Active +GARD:763,Legacy,GARD,,,,,,,,,,,,"Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis",TRUE,FALSE,Active +GARD:7630,Active,Orphanet,ORPHA:91355,Disorder,[Malformation syndrome],Sheehan syndrome,,"Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.",,,,,,Sheehan syndrome,TRUE,FALSE,Active +GARD:7633,Active,Orphanet,ORPHA:3163,Disorder,[Malformation syndrome],SHORT syndrome,"[Lipodystrophy-Rieger anomaly-diabetes syndrome, Rieger anomaly-partial lipodystrophy syndrome]","A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.",[269880],,,,,SHORT syndrome,TRUE,FALSE,Active +GARD:7636,Legacy,GARD,,,,,,,,,,,,Shwartzman phenomenon,TRUE,FALSE,Active +GARD:7637,Legacy,GARD,,,,,,,,,,,,Multiple system atrophy (MSA) with orthostatic hypotension,TRUE,FALSE,Retired +GARD:7638,Legacy,GARD,,,,,,,,,,,,Sialadenitis,TRUE,FALSE,Active +GARD:7639,Active,Orphanet,ORPHA:812,Disorder,[Disease],Sialidosis type 1,"[Cherry-red spot-myoclonus syndrome, Lipomucopolysaccharidosis, Normomorphic sialidosis]","Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.",[256550],,,,,Sialidosis type I,TRUE,FALSE,Active +GARD:764,Active,Orphanet,ORPHA:1130,Disorder,[Malformation syndrome],Arachnodactyly-intellectual disability-dysmorphism syndrome,[De Die-Smulders-Vles-Fryns syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.",,,,,,Arachnodactyly - intellectual disability - dysmorphism,TRUE,FALSE,Active +GARD:7644,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia acquired,TRUE,FALSE,Retired +GARD:7645,Legacy,GARD,,,,,,,,,,,,Siderosis,TRUE,FALSE,Active +GARD:7647,Legacy,GARD,,,,,,,,,,,,Silicosis,TRUE,FALSE,Active +GARD:7648,Legacy,GARD,,,,,,,,,,,,Simian B virus infection,TRUE,FALSE,Active +GARD:7649,Active,Orphanet,ORPHA:373,Disorder,[Malformation syndrome],Simpson-Golabi-Behmel syndrome,"[DGSX, Golabi-Rosen syndrome, SDYS, SGBS, SGBS1, Simpson dysmorphia syndrome, Simpson-Golabi-Behmel syndrome type 1, X-linked dysplasia gigantism syndrome]","A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.",[312870],,,,,Simpson-Golabi-Behmel syndrome,TRUE,FALSE,Active +GARD:7650,Legacy,GARD,,,,,,,,,,,,Sinus cancer,TRUE,FALSE,Active +GARD:7652,Active,Orphanet,ORPHA:3169,Disorder,[Malformation syndrome],Sirenomelia,,"A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.",[600145],,,,,Sirenomelia,TRUE,FALSE,Active +GARD:7653,Active,Orphanet,ORPHA:2882,Disorder,[Disease],Sitosterolemia,[Phytosterolemia],"Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.","[210250, 618666]",,,,,Sitosterolemia,TRUE,FALSE,Active +GARD:7654,Active,Orphanet,ORPHA:816,Disorder,[Disease],Sjögren-Larsson syndrome,[Fatty acid alcohol oxidoreductase deficiency],"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.",[270200],,,,,Sjogren-Larsson syndrome,TRUE,FALSE,Active +GARD:7656,Legacy,GARD,,,,,,,,,,,,Skeletal dysplasias,FALSE,FALSE,Active +GARD:7664,Active,Orphanet,ORPHA:820,Disorder,[Disease],Sneddon syndrome,"[Ehrmann-Sneddon syndrome, Livedo racemosa-cerebrovascular accident syndrome, Livedo reticularis-cerebrovascular accident syndrome]",Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.,[182410],,,,,Sneddon syndrome,TRUE,FALSE,Active +GARD:7668,Legacy,GARD,,,,,,,,,,,,Spasmodic dysphonia,TRUE,FALSE,Active +GARD:7672,Active,Orphanet,ORPHA:79225,Group of disorders,[Category],Sphingolipidosis,,,,,,,,Sphingolipidosis,TRUE,FALSE,Active +GARD:7673,Active,Orphanet,ORPHA:823,Group of disorders,[Clinical group],Isolated spina bifida,,"A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.","[601634, 301410, 182940]",,,,,Spina bifida,TRUE,FALSE,Active +GARD:7674,Legacy,GARD,,,,,,,,,,,,Spinal muscular atrophy,TRUE,FALSE,Active +GARD:7675,Legacy,GARD,,,,,,,,,,,,Spinal bulbar motor neuropathy,TRUE,FALSE,Retired +GARD:7679,Legacy,GARD,,,,,,,,,,,,Spinal cord neoplasm,TRUE,FALSE,Retired +GARD:7680,Legacy,GARD,,,,,,,,,,,,Spinal shock,TRUE,FALSE,Active +GARD:7682,Legacy,GARD,,,,,,,,,,,,Spirochetes disease,TRUE,FALSE,Active +GARD:7683,Legacy,GARD,,,,,,,,,,,,Splenic neoplasm,TRUE,FALSE,Active +GARD:7684,Legacy,GARD,,,,,,,,,,,,Splenomegaly,TRUE,FALSE,Active +GARD:7685,Legacy,GARD,,,,,,,,,,,,Split hand foot malformation 1,TRUE,FALSE,Retired +GARD:7687,Active,Orphanet,ORPHA:253,Group of disorders,[Clinical group],Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,[SED and SEMD],,,,,,,Spondyloepiphyseal dysplasia,TRUE,FALSE,Active +GARD:7690,Active,Orphanet,ORPHA:356,Disorder,[Disease],Gerstmann-Straussler-Scheinker syndrome,"[Subacute spongiform encephalopathy, Gerstmann-Straussler type]","A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.",[137440],,,,,Gerstmann-Straussler-Scheinker disease,TRUE,FALSE,Active +GARD:7692,Active,Orphanet,ORPHA:826,Disorder,[Disease],Sporotrichosis,,"Sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.",,,,,,Sporotrichosis,TRUE,FALSE,Active +GARD:7693,Active,Orphanet,ORPHA:3181,Disorder,[Morphological anomaly],Sprengel deformity,[High scapula],"A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.",[184400],,,,,Sprengel deformity,TRUE,FALSE,Active +GARD:7695,Active,Orphanet,ORPHA:22,Disorder,[Disease],Succinic semialdehyde dehydrogenase deficiency,"[4-hydroxybutyric aciduria, Gamma-hydroxybutyric aciduria, SSADH deficiency]","A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.",[271980],,,,,Succinic semialdehyde dehydrogenase deficiency,TRUE,FALSE,Active +GARD:770,Active,Orphanet,ORPHA:35708,Disorder,[Disease],Aromatic L-amino acid decarboxylase deficiency,[AADC deficiency],"A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).",[608643],,,,,Aromatic L-amino acid decarboxylase deficiency,TRUE,FALSE,Active +GARD:7700,Active,Orphanet,ORPHA:36426,Subtype of disorder,[Clinical subtype],Stevens-Johnson syndrome,"[Dermatostomatitis, Stevens Johnson type]",A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.,[608579],,,,,Stevens-Johnson syndrome/toxic epidermal necrolysis,TRUE,FALSE,Active +GARD:7704,Legacy,GARD,,,,,,,,,,,,Stomach cancer,TRUE,FALSE,Active +GARD:7706,Active,Orphanet,ORPHA:3205,Disorder,[Malformation syndrome],Sturge-Weber syndrome,"[Encephalofacial angiomatosis, Encephalotrigeminal angiomatosis, SWS, Sturge-Weber-Dimitri syndrome, Sturge-Weber-Krabbe angiomatosis, Sturge-Weber-Krabbe syndrome]",A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.,[185300],,,,,Sturge-Weber syndrome,TRUE,FALSE,Active +GARD:7708,Active,Orphanet,ORPHA:2806,Disorder,[Disease],Subacute sclerosing leukoencephalitis,"[Dawson encephalitis, SSPE, Subacute inclusion body encephalitis, Subacute sclerosing panencephalitis, Van Bogaert disease, Van Bogaert encephalitis]",A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.,[260470],,,,,Subacute sclerosing panencephalitis,TRUE,FALSE,Active +GARD:771,Legacy,GARD,,,,,,,,,,,,Arroyo Garcia Cimadevilla syndrome,TRUE,FALSE,Active +GARD:7710,Active,Orphanet,ORPHA:35122,Disorder,[Disease],Congenital sucrase-isomaltase deficiency,"[CSID, Congenital sucrose intolerance, Disaccharide intolerance]","A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.",[222900],,,,,Congenital sucrase-isomaltase deficiency,TRUE,FALSE,Active +GARD:7711,Legacy,GARD,,,,,,,,,,,,Sudden infant death syndrome,TRUE,FALSE,Active +GARD:7712,Active,Orphanet,ORPHA:622099,Disorder,[Disease],Superior mesenteric artery syndrome,"[SMAS, Wilkie syndrome]",,,,,,,Superior mesenteric artery syndrome,TRUE,FALSE,Active +GARD:7713,Active,Orphanet,ORPHA:838,Disorder,[Disease],Susac syndrome,[Retinocochleocerebral vasculopathy],"A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.",,,,,,Susac syndrome,TRUE,FALSE,Active +GARD:7714,Legacy,GARD,,,,,,,,,,,,Sutton disease 2,TRUE,FALSE,Active +GARD:7716,Active,Orphanet,ORPHA:306731,Disorder,[Particular clinical situation in a disease or syndrome],Sydenham chorea,,,,,,,,Sydenham's chorea,TRUE,FALSE,Active +GARD:7719,Legacy,GARD,,,,,,,,,,,,Synovial cancer,TRUE,FALSE,Retired +GARD:7720,Legacy,GARD,,,,,,,,,,,,"Synovial chondromatosis, familial with dwarfism",TRUE,FALSE,Active +GARD:7721,Active,Orphanet,ORPHA:3273,Disorder,[Disease],Synovial sarcoma,[Synovialosarcoma],"Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).",[300813],,,,,Synovial sarcoma,TRUE,FALSE,Active +GARD:7722,Legacy,GARD,,,,,,,,,,,,Synovitis,TRUE,FALSE,Active +GARD:7724,Legacy,GARD,,,,,,,,,,,,Syringobulbia,TRUE,FALSE,Active +GARD:7725,Active,Orphanet,ORPHA:3280,Group of disorders,[Clinical group],Syringomyelia,[Hydromyelia],"Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).",[186700],,,,,Syringomyelia,TRUE,FALSE,Active +GARD:7727,Legacy,GARD,,,,,,,,,,,,Diffuse scleroderma,TRUE,FALSE,Retired +GARD:7728,Legacy,GARD,,,,,,,,,,,,T-Lymphocytopenia,TRUE,FALSE,Retired +GARD:7730,Active,Orphanet,ORPHA:3287,Disorder,[Disease],Takayasu arteritis,,"A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.",[207600],,,,,Takayasu arteritis,TRUE,FALSE,Active +GARD:7731,Active,Orphanet,ORPHA:31150,Disorder,[Disease],Tangier disease,"[ATP-binding cassette transporter A1 deficiency, Analphalipoproteinemia]","A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.",[205400],,,,,Tangier disease,TRUE,FALSE,Active +GARD:7732,Legacy,GARD,,,,,,,,,,,,Tardive dyskinesia,FALSE,FALSE,Active +GARD:7733,Legacy,GARD,,,,,,,,,,,,Tarsal tunnel syndrome,TRUE,FALSE,Active +GARD:7737,Active,Orphanet,ORPHA:845,Disorder,[Disease],Tay-Sachs disease,"[GM2 gangliosidosis, B, B1 variant, Hexosaminidase A deficiency]",A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.,[272800],,,,,Tay-Sachs disease,TRUE,FALSE,Active +GARD:774,Active,Orphanet,ORPHA:3342,Disorder,[Malformation syndrome],Arterial tortuosity syndrome,[ATS],"A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.",[208050],,,,,Arterial tortuosity syndrome,TRUE,FALSE,Active +GARD:7741,Legacy,GARD,,,,,,,,,,,,Telencephalic leukoencephalopathy,FALSE,FALSE,Retired +GARD:7743,Active,Orphanet,ORPHA:95455,Disorder,[Disease],Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,"[SJS-TEN, Toxic epidermolysis]",Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.,[608579],,,,,Toxic epidermal necrolysise,TRUE,FALSE,Retired +GARD:7744,Legacy,GARD,,,,,,,,,,,,Malignant Teratocarcinosarcoma,TRUE,FALSE,Active +GARD:7746,Legacy,GARD,,,,,,,,,,,,Testicular cancer,TRUE,FALSE,Retired +GARD:775,Legacy,GARD,,,,,,,,,,,,Arthritis short stature deafness,TRUE,FALSE,Retired +GARD:7751,Active,Orphanet,ORPHA:238583,Disorder,[Disease],Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,"[Hyperphenylalaninemia due to BH4 deficiency, Non-phenylketonuric hyperphenylalaninemia]","An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.","[233910, 261630, 261640, 264070]",,,,,Tetrahydrobiopterin deficiency,TRUE,FALSE,Active +GARD:7754,Active,Orphanet,ORPHA:9,Disorder,[Malformation syndrome],Tetrasomy X,"[48,XXXX syndrome, Quadruple X, Tetra X]","Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).",,,,,,Tetrasomy X,TRUE,FALSE,Active +GARD:7756,Legacy,GARD,,,,,,,,,,,,Thalassemia,TRUE,FALSE,Active +GARD:7759,Active,Orphanet,ORPHA:97330,Disorder,[Disease],Thoracic outlet syndrome,"[TOS, Thoracic outlet compression syndrome]","Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).",,,,,,Thoracic outlet syndromes,FALSE,FALSE,Active +GARD:7760,Legacy,GARD,,,,,,,,,,,,Thrombasthenia,TRUE,FALSE,Active +GARD:7767,Legacy,GARD,,,,,,,,,,,,"Thymoma, childhood",TRUE,FALSE,Retired +GARD:777,Active,Orphanet,ORPHA:1037,Group of disorders,[Clinical group],Arthrogryposis multiplex congenita,"[AMC, Multiple congenital arthrogryposis]",A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.,,,,,,Arthrogryposis multiplex congenita,TRUE,FALSE,Active +GARD:7771,Legacy,GARD,,,,,,,,,,,,Tick paralysis,TRUE,FALSE,Active +GARD:7772,Active,Orphanet,ORPHA:42665,Disorder,[Malformation syndrome],Tietz syndrome,"[Hypopigmentation-deafness syndrome, Hypopigmentation-hearing loss syndrome]","Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.",[103500],,,,,Tietz syndrome,TRUE,FALSE,Active +GARD:7776,Legacy,GARD,,,,,,,,,,,,Togaviridae disease,TRUE,FALSE,Active +GARD:7777,Active,Orphanet,ORPHA:64686,Disorder,[Disease],Tolosa-Hunt syndrome,[Painful ophthalmoplegia],"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.",,,,,,Tolosa Hunt syndrome,TRUE,FALSE,Active +GARD:7779,Legacy,GARD,,,,,,,,,,,,Tongue cancer,TRUE,FALSE,Active +GARD:7781,Legacy,GARD,,,,,,,,,,,,TORCH syndrome,TRUE,FALSE,Active +GARD:7782,Legacy,GARD,,,,,,,,,,,,"Dystonia 7, torsion",TRUE,FALSE,Retired +GARD:7783,Legacy,GARD,,,,,,,,,,,,Tourette syndrome,FALSE,FALSE,Active +GARD:7784,Active,Orphanet,ORPHA:857,Disorder,[Malformation syndrome],Townes-Brocks syndrome,"[Imperforate anus-hand, foot and ear anomalies syndrome, REAR syndrome, Renal-ear-anal-radial syndrome, Sensorineural deafness with imperforate anus and hypoplastic thumbs, Sensorineural hearing loss with imperforate anus and hypoplastic thumbs, TBS, Townes syndrome]","A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.","[617466, 107480]",,,,,Townes-Brocks syndrome,TRUE,FALSE,Active +GARD:7788,Legacy,GARD,,,,,,,,,,,,Toxocariasis,FALSE,FALSE,Active +GARD:779,Legacy,GARD,,,,,,,,,,,,Arthrogryposis due to muscular dystrophy,TRUE,FALSE,Active +GARD:7791,Legacy,GARD,,,,,,,,,,,,Tracheobronchomalacia,TRUE,FALSE,Active +GARD:7792,Legacy,GARD,,,,,,,,,,,,Tracheoesophageal fistula,TRUE,FALSE,Active +GARD:7793,Active,Orphanet,ORPHA:98871,Disorder,[Disease],Transient erythroblastopenia of childhood,[Transient acquired pure red cell aplasia],"A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.",[227050],,,,,Transient erythroblastopenia of childhood,TRUE,FALSE,Active +GARD:7794,Legacy,GARD,,,,,,,,,,,,Transitional cell carcinoma,TRUE,FALSE,Active +GARD:7795,Active,Orphanet,ORPHA:216675,Group of disorders,[Category],Transposition of the great arteries,"[Complete transposition, TGA, TGV, Transposition of the great vessels]",,,,,,,Transposition of the great arteries,TRUE,FALSE,Active +GARD:7796,Legacy,GARD,,,,,,,,,,,,Transverse myelitis,TRUE,FALSE,Active +GARD:7798,Legacy,GARD,,,,,,,,,,,,Treponema infection,TRUE,FALSE,Active +GARD:7799,Active,Orphanet,ORPHA:3352,Disorder,[Malformation syndrome],Tricho-dento-osseous syndrome,[TDO syndrome],"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.",[190320],,,,,Tricho-dento-osseous syndrome,TRUE,FALSE,Active +GARD:7800,Active,Orphanet+OMIM,OMIM:190350,Subtype of disorder,[Malformation syndrome subtype],"Trichorhinophalangeal syndrome, type i",[Trps i],"Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by {25:Momeni et al., 2000}).",[190350],[77258],[Trichorhinophalangeal syndrome type 1 and 3],[15017],,Trichorhinophalangeal syndrome type 1,TRUE,FALSE,Active +GARD:7801,Active,Orphanet,ORPHA:502,Disorder,[Malformation syndrome],Trichorhinophalangeal syndrome type 2,"[Deletion 8q24.1, Langer-Giedion syndrome, Monosomy 8q24.1]","A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.",[150230],,,,,Trichorhinophalangeal syndrome type 2,TRUE,FALSE,Active +GARD:7802,Active,Orphanet+OMIM,OMIM:190351,Subtype of disorder,[Malformation syndrome subtype],"Trichorhinophalangeal syndrome, type iii",[Sugio-kajii syndrome],"Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by {2:Ludecke et al., 2001}).",[190351],[77258],[Trichorhinophalangeal syndrome type 1 and 3],[15017],,Trichorhinophalangeal syndrome type 3,TRUE,FALSE,Active +GARD:7803,Legacy,GARD,,,,,,,,,,,,Trichotillomania,FALSE,FALSE,Active +GARD:7805,Active,Orphanet,ORPHA:221091,Disorder,[Disease],Trigeminal neuralgia,,"A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.",[190400],,,,,Trigeminal neuralgia,TRUE,FALSE,Active +GARD:781,Legacy,GARD,,,,,,,,,,,,Arthrogryposis epileptic seizures migrational brain disorder,TRUE,FALSE,Active +GARD:7815,Legacy,GARD,,,,,,,,,,,,Mosaic trisomy 6,TRUE,FALSE,Active +GARD:782,Legacy,GARD,,,,,,,,,,,,Arthrogryposis IUGR thoracic dystrophy,TRUE,FALSE,Active +GARD:7821,Legacy,GARD,,,,,,,,,,,,Chromosome 9q duplication,TRUE,FALSE,Active +GARD:7824,Legacy,GARD,,,,,,,,,,,,Tropical sprue,TRUE,FALSE,Active +GARD:7826,Active,Orphanet,ORPHA:3385,Disorder,[Disease],African trypanosomiasis,[Sleeping sickness],"A rare vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.",,,,,,"Trypanosomiasis, Human East-African",TRUE,FALSE,Active +GARD:7827,Active,Orphanet,ORPHA:3389,Disorder,[Disease],Tuberculosis,,"Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.",[607948],,,,,Tuberculosis,TRUE,FALSE,Retired +GARD:7828,Active,Orphanet,ORPHA:499004,Disorder,[Disease],Tuberculous meningitis,"[TBM, Tubercular meningitis]","A rare bacterial infectious disease caused by Mycobacterium tuberculosis, characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.",,,,,,Tuberculous meningitis,TRUE,FALSE,Active +GARD:7829,Legacy,GARD,,,,,,,,,,,,Tuberculous uveitis,TRUE,FALSE,Active +GARD:783,Legacy,GARD,,,,,,,,,,,,Arthrogryposis like disorder,TRUE,FALSE,Retired +GARD:7830,Active,Orphanet,ORPHA:805,Disorder,[Disease],Tuberous sclerosis complex,"[Bourneville syndrome, Tuberous sclerosis]","A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.","[191100, 613254]",,,,,Tuberous sclerosis complex,TRUE,FALSE,Active +GARD:7831,Active,Orphanet,ORPHA:881,Disorder,[Malformation syndrome],Turner syndrome,"[45,X syndrome, 45,X/46,XX syndrome]","A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.",,,,,,Turner syndrome,TRUE,FALSE,Active +GARD:7833,Legacy,GARD,,,,,,,,,,,,Typhus,TRUE,FALSE,Active +GARD:7836,Legacy,GARD,,,,,,,,,,,,Urachal cancer,TRUE,FALSE,Active +GARD:7837,Active,Orphanet,ORPHA:79167,Group of disorders,[Category],Disorder of urea cycle metabolism and ammonia detoxification,,,,,,,,Urea cycle disorders,TRUE,FALSE,Active +GARD:784,Active,Orphanet,ORPHA:1144,Disorder,[Malformation syndrome],Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,"[Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome, Distal arthrogryposis type 6]",A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.,[108200],,,,,Arthrogryposis-like hand anomaly and sensorineural deafness,TRUE,FALSE,Active +GARD:7842,Active,Orphanet,ORPHA:66646,Group of disorders,[Clinical group],Cutaneous mastocytosis,,"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.",,,,,,Cutaneous mastocytosis,TRUE,FALSE,Active +GARD:7843,Active,Orphanet,ORPHA:886,Disorder,[Disease],Usher syndrome,"[Retinitis pigmentosa-deafness syndrome, Retinitis pigmentosa-hearing loss syndrome, USH]","A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.","[602097, 614990, 500004, 602083, 611383, 612632, 614869, 276900, 606943, 276901, 276902, 276904, 605472, 601067, 614504]",,,,,Usher syndrome,TRUE,FALSE,Active +GARD:7845,Legacy,GARD,,,,,,,,,,,,Valinemia,TRUE,FALSE,Active +GARD:7846,Active,Orphanet+OMIM,OMIM:606713,Subtype of disorder,[Malformation syndrome subtype],Van der woude syndrome 2,,"Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.\n\nFor a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 ({119300}).",[606713],[888],[Van der Woude syndrome],[8414],,Van der Woude syndrome 2,TRUE,FALSE,Active +GARD:7848,Active,Orphanet,ORPHA:79473,Disorder,[Disease],Porphyria variegata,"[Protoporphyrinogen oxidase deficiency, Variegate porphyria]",Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.,[176200],,,,,Variegate porphyria,TRUE,FALSE,Active +GARD:785,Legacy,GARD,,,,,,,,,,,,Arthrogryposis multiplex congenita CNS calcification,TRUE,FALSE,Active +GARD:7851,Active,Orphanet,ORPHA:889,Disorder,[Disease],Cutaneous small vessel vasculitis,[Cutaneous hypersensitivity vasculitis],A small vessel vasculitis characterized by neutrophilic inflammation predominantly limited to the superficial cutaneous postcapillary venules and without systemic vasculitis or glomerulonephritis. Typical presentation is of unifocal or multifocal palpable purpura on the lower extremities.,,,,,,Hypersensitivity vasculitis,TRUE,FALSE,Active +GARD:7853,Legacy,GARD,,,,,,,,,,,,Ventricular septal defects,TRUE,FALSE,Active +GARD:7854,Active,Orphanet,ORPHA:70476,Disorder,[Disease],Vernal keratoconjunctivitis,[Spring catarrh],"A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.",,,,,,Vernal keratoconjunctivitis,TRUE,FALSE,Active +GARD:7855,Active,Orphanet,ORPHA:892,Disorder,[Disease],Von Hippel-Lindau disease,"[Familial cerebelloretinal angiomatosis, Lindau disease, VHL, Von Hippel-Lindau syndrome]","Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.",[193300],,,,,Von Hippel-Lindau disease,TRUE,FALSE,Active +GARD:7857,Active,Orphanet,ORPHA:158048,Disorder,[Particular clinical situation in a disease or syndrome],Hemophagocytic syndrome associated with an infection,"[IAHS, VAHS, Virus-associated hemophagocytic syndrome]",,,,,,,Virus associated hemophagocytic syndrome,TRUE,FALSE,Active +GARD:786,Active,Orphanet,ORPHA:97120,Group of disorders,[Clinical group],Distal arthrogryposis,,"A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.",,,,,,Distal arthrogryposis,TRUE,FALSE,Active +GARD:7860,Active,Orphanet,ORPHA:79445,Disorder,[Disease],Pseudopseudohypoparathyroidism,"[AHO-PPHP syndrome, Albright hereditary osteodystrophy-PPHP syndrome]","Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).",[612463],,,,,Pseudopseudohypoparathyroidism,TRUE,FALSE,Active +GARD:7862,Active,Orphanet,ORPHA:3437,Disorder,[Disease],Vogt-Koyanagi-Harada disease,[Uveomenigitic syndrome],"Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.",,,,,,Vogt-Koyanagi-Harada disease,TRUE,FALSE,Active +GARD:7864,Active,Orphanet,ORPHA:79258,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,"[G6P deficiency type 1a, GSD due to G6P deficiency type 1a, GSD due to G6P deficiency type Ia, GSD type 1a, GSDIa, Glycogen storage disease due to G6P deficiency type Ia, Glycogen storage disease type 1a, Glycogenosis due to glucose-6-phosphatase deficiency type 1a, Glycogenosis due to glucose-6-phosphatase deficiency type Ia, Glycogenosis type Ia]","Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).",[232200],,,,,Glycogen storage disease type 1A,TRUE,FALSE,Active +GARD:7866,Active,Orphanet,ORPHA:636,Disorder,[Disease],Neurofibromatosis type 1,"[NF1, Von Recklinghausen disease]","Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.","[162210, 162200, 613675]",,,,,Neurofibromatosis type 1,TRUE,FALSE,Active +GARD:7867,Active,Orphanet,ORPHA:903,Disorder,[Disease],Von Willebrand disease,[Hereditary von Willebrand disease],"A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).","[314560, 277480, 613554, 193400]",,,,,Von Willebrand disease,FALSE,FALSE,Active +GARD:787,Active,Orphanet,ORPHA:1146,Disorder,[Malformation syndrome],Distal arthrogryposis type 1,"[DA1, Digitotalar dysmorphism]",A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.,"[619110, 108120, 618435, 614335, 126050]",,,,,Distal arthrogryposis type 1,TRUE,FALSE,Active +GARD:7871,Active,Orphanet,ORPHA:898,Disorder,[Disease],Wagner disease,"[Dominant hyaloideoretinal dystrophy of Wagner, VCAN-related vitreoretinopathy, Vitreoretinal degeneration, Wagner type, Wagner syndrome]","Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.",[143200],,,,,Wagner syndrome,TRUE,FALSE,Active +GARD:7872,Active,Orphanet,ORPHA:33226,Disorder,[Disease],Waldenström macroglobulinemia,,"Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.","[153600, 610430]",,,,,Waldenstrom macroglobulinemia,TRUE,FALSE,Active +GARD:7873,Active,Orphanet,ORPHA:90362,Disorder,[Disease],Primary intestinal lymphangiectasia,[Waldmann disease],"A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.",[152800],,,,,Primary intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:7875,Legacy,GARD,,,,,,,,,,,,Wallerian degeneration,TRUE,FALSE,Active +GARD:7876,Active,Orphanet,ORPHA:90033,Disorder,[Disease],"Autoimmune hemolytic anemia, warm type","[Warm AIHA, wAHA, wAIHA]",Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).,,,,,,Warm antibody hemolytic anemia,TRUE,FALSE,Active +GARD:7877,Legacy,GARD,,,,,,,,,,,,Watermelon stomach,TRUE,FALSE,Active +GARD:7878,Active,Orphanet,ORPHA:3447,Disorder,[Malformation syndrome],Weaver syndrome,[Camptodactyly-overgrowth-unusual facies syndrome],"Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.","[617561, 277590, 618786]",,,,,Weaver syndrome,TRUE,FALSE,Active +GARD:7879,Active,Orphanet,ORPHA:33577,Disorder,[Disease],Nodular non-suppurative panniculitis,"[Idiopathic lobular panniculitis, Idiopathic nodular panniculitis, Pfeiffer-Weber-Christian syndrome, Relapsing febrile nodular nonsuppurative panniculitis, Relapsing febrile nodular panniculitis, WCD, Weber-Christian disease, Weber-Christian panniculitis]",A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.,,,,,,Nodular nonsuppurative panniculitis,TRUE,FALSE,Active +GARD:788,Legacy,GARD,,,,,,,,,,,,Distal arthrogryposis type 2,TRUE,FALSE,Retired +GARD:7880,Active,Orphanet,ORPHA:900,Disorder,[Disease],Granulomatosis with polyangiitis,[GPA],"A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.",[608710],,,,,Granulomatosis with polyangiitis,TRUE,FALSE,Active +GARD:7881,Active,Orphanet,ORPHA:509,Disorder,[Disease],Leptospirosis,,Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.,,,,,,Leptospirosis,TRUE,FALSE,Active +GARD:7883,Active,Orphanet,ORPHA:83330,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 1,"[Infantile spinal muscular atrophy, Infantile-onset spinal muscular atrophy, SMA type 1, SMA type I, SMA-I, SMA1, Werdnig-Hoffmann disease]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support.",[253300],,,,,Spinal muscular atrophy 1,TRUE,FALSE,Active +GARD:7885,Active,Orphanet,ORPHA:902,Disorder,[Disease],Werner syndrome,"[Adult progeria, WS]","Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.",[277700],,,,,Werner syndrome,TRUE,FALSE,Active +GARD:7887,Active,Orphanet,ORPHA:3451,Disorder,[Clinical syndrome],Infantile spasms syndrome,[West syndrome],"A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.","[616341, 613477, 618298, 615006, 308350, 617929, 617065, 613722, 616139, 300672]",,,,,West syndrome,TRUE,FALSE,Active +GARD:7888,Active,Orphanet,ORPHA:83593,Disorder,[Disease],Western equine encephalitis,[Western equine encephalomyelitis],"An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.",,,,,,Western equine encephalitis,TRUE,FALSE,Active +GARD:7889,Active,Orphanet,ORPHA:3452,Disorder,[Disease],Whipple disease,[Intestinal lipodystrophy],A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).,,,,,,Whipple disease,TRUE,FALSE,Active +GARD:7890,Active,Orphanet,ORPHA:3454,Disorder,[Malformation syndrome],Intellectual disability-developmental delay-contractures syndrome,"[Foot contractures-muscle atrophy-oculomotor apraxia syndrome, Wieacker-Wolff syndrome]","Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.",[314580],,,,,Intellectual disability-developmental delay-contractures syndrome,TRUE,FALSE,Active +GARD:7891,Active,Orphanet,ORPHA:904,Disorder,[Malformation syndrome],Williams syndrome,"[Deletion 7q11.23, Monosomy 7q11.23, Williams-Beuren syndrome]","A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.",[194050],,,,,Williams syndrome,TRUE,FALSE,Active +GARD:7892,Active,Orphanet,ORPHA:654,Disorder,[Disease],Nephroblastoma,"[Renal embryonic tumor, Wilms tumor]","A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.","[194070, 601583, 194071, 616806, 194090, 601363]",,,,,Wilms' tumor,TRUE,FALSE,Active +GARD:7893,Active,Orphanet,ORPHA:905,Disorder,[Disease],Wilson disease,[Hepatolenticular degeneration],"A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.",[277900],,,,,Wilson disease,TRUE,FALSE,Active +GARD:7894,Active,Orphanet+OMIM,OMIM:277950,Subtype of disorder,[Disease subtype],Winchester syndrome,,"Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; {259600}), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by {12:Zankl et al., 2007}).",[277950],[371428],[Multicentric osteolysis-nodulosis-arthropathy spectrum],[17610],,Winchester syndrome,TRUE,FALSE,Active +GARD:7895,Active,Orphanet,ORPHA:906,Disorder,[Disease],Wiskott-Aldrich syndrome,"[Eczema-thrombocytopenia-immunodeficiency syndrome, WAS]","A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.","[614493, 301000, 600903]",,,,,Wiskott Aldrich syndrome,TRUE,FALSE,Active +GARD:7896,Active,Orphanet,ORPHA:280,Disorder,[Malformation syndrome],Wolf-Hirschhorn syndrome,"[4p- syndrome, Distal deletion 4p, Distal monosomy 4p, Telomeric deletion 4p]","A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.",[194190],,,,,Wolf-Hirschhorn syndrome,TRUE,FALSE,Active +GARD:7897,Legacy,GARD,,,,,,,,,,,,Wolff-Parkinson-White syndrome,FALSE,FALSE,Active +GARD:7898,Active,Orphanet,ORPHA:3463,Disorder,[Disease],Wolfram syndrome,"[DIDMOAD syndrome, Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome, Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome]","A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.","[598500, 222300, 604928]",,,,,Wolfram syndrome,TRUE,FALSE,Active +GARD:7899,Active,Orphanet,ORPHA:75233,Subtype of disorder,[Clinical subtype],Wolman disease,,"A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.",[278000],,,,,Wolman disease,TRUE,FALSE,Active +GARD:79,Active,Orphanet,ORPHA:33067,Disorder,[Disease],"Metaphyseal chondrodysplasia, Jansen type",,"A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.",[156400],,,,,Jansen type metaphyseal chondrodysplasia,TRUE,FALSE,Active +GARD:790,Active,Orphanet,ORPHA:1143,Disorder,[Disease],Neurogenic arthrogryposis multiplex congenita,,A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.,[208100],,,,,Arthrogryposis multiplex congenita neurogenic type,TRUE,FALSE,Active +GARD:7900,Active,Orphanet,ORPHA:53719,Disorder,[Malformation syndrome],Wyburn-Mason syndrome,"[Bonnet-Dechaume-Blanc syndrome, CAMS2, Cerebrofacial arteriovenous metameric syndrome type 2]","Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.",,,,,,Wyburn-Mason syndrome,TRUE,FALSE,Active +GARD:7904,Active,Orphanet,ORPHA:461,Disorder,[Disease],Recessive X-linked ichthyosis,"[RXLI, Steroid sulfatase deficiency, X-linked ichthyosis, XLI]",Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.,"[300001, 308100]",,,,,X-linked ichthyosis,TRUE,FALSE,Active +GARD:7906,Active,Orphanet,ORPHA:538931,Disorder,[Disease],X-linked lymphoproliferative disease due to SH2D1A deficiency,"[SAP deficiency, SH2D1A/SLAM-associated protein deficiency, X-linked lymphoproliferative syndrome type 1, XLP1]","A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.",[308240],,,,,X-linked lymphoproliferative disease due to SH2D1A deficiency,TRUE,FALSE,Active +GARD:791,Legacy,GARD,,,,,,,,,,,,Arthrogryposis multiplex congenita pulmonary hypoplasia,TRUE,FALSE,Active +GARD:7910,Active,Orphanet,ORPHA:910,Disorder,[Disease],Xeroderma pigmentosum,,"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).","[278720, 278700, 278740, 610651, 278780, 278730, 278760]",,,,,Xeroderma pigmentosum,TRUE,FALSE,Active +GARD:7913,Legacy,GARD,,,,,,,,,,,,Yaws,TRUE,FALSE,Active +GARD:7914,Active,Orphanet,ORPHA:99829,Disorder,[Disease],Yellow fever,"[Bronze John, YF, Yellow Jack]","Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.",,,,,,Yellow fever,TRUE,FALSE,Active +GARD:7917,Active,Orphanet,ORPHA:912,Disorder,[Disease],Zellweger syndrome,"[Cerebrohepatorenal syndrome, Severe PBD-ZSD, Severe peroxisome biogenesis disorder-Zellweger spectrum disorder, ZS]","A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.","[614870, 614882, 614886, 214100, 614872, 614887, 214110, 617370, 614876, 614883, 614862, 614859, 614866]",,,,,Zellweger syndrome,TRUE,FALSE,Active +GARD:7918,Active,Orphanet,ORPHA:913,Disorder,[Disease],Zollinger-Ellison syndrome,[Gastrinoma],Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.,,,,,,Zollinger-Ellison syndrome,TRUE,FALSE,Active +GARD:7919,Legacy,GARD,,,,,,,,,,,,Zuska's disease,TRUE,FALSE,Active +GARD:792,Active,Orphanet,ORPHA:1150,Disorder,[Malformation syndrome],Arthrogryposis multiplex congenita-whistling face syndrome,[Illum syndrome],"An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.",[208155],,,,,Arthrogryposis multiplex congenita whistling face,TRUE,FALSE,Active +GARD:7922,Active,Orphanet,ORPHA:98473,Group of disorders,[Category],Muscular dystrophy,,,,,,,,Muscular dystrophy,TRUE,FALSE,Active +GARD:794,Active,Orphanet,ORPHA:2697,Disorder,[Malformation syndrome],Arthrogryposis-renal dysfunction-cholestasis syndrome,[ARC syndrome],"A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.","[613404, 208085]",,,,,Arthrogryposis renal dysfunction cholestasis syndrome,TRUE,FALSE,Active +GARD:795,Legacy,GARD,,,,,,,,,,,,Arthrogryposis spinal muscular atrophy,TRUE,FALSE,Active +GARD:799,Legacy,GARD,,,,,,,,,,,,Ataxia telangiectasia variant V1,TRUE,FALSE,Retired +GARD:8,Legacy,GARD,,,,,,,,,,,,Agnosia,TRUE,FALSE,Active +GARD:80,Active,Orphanet,ORPHA:2315,Disorder,[Malformation syndrome],Johanson-Blizzard syndrome,[JBS],"Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.",[243800],,,,,Johanson-Blizzard syndrome,TRUE,FALSE,Active +GARD:801,Legacy,GARD,,,,,,,,,,,,Idiopathic double athetosis,TRUE,FALSE,Retired +GARD:802,Active,Orphanet,ORPHA:98722,Group of disorders,[Clinical group],Atrioventricular septal defect,"[AVSD, Atrioventricular canal defect]",,"[600309, 606215, 614430, 615779, 614474, 606217]",,,,,Atrioventricular septal defect,TRUE,FALSE,Active +GARD:804,Active,Orphanet,ORPHA:52,Disorder,[Malformation syndrome],Alagille syndrome,"[Alagille-Watson syndrome, Arteriohepatic dysplasia, Syndromic bile duct paucity]","A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.","[118450, 610205]",,,,,Alagille syndrome,TRUE,FALSE,Active +GARD:805,Legacy,GARD,,,,,,,,,,,,Brainstem auditory evoked responses,FALSE,FALSE,Retired +GARD:806,Active,Orphanet,ORPHA:2819,Disorder,[Malformation syndrome],Spastic paraplegia-facial-cutaneous lesions syndrome,[Bahemuka-Brown syndrome],A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.,,,,,,Spastic paraplegia facial cutaneous lesions,TRUE,FALSE,Active +GARD:807,Legacy,GARD,,,,,,,,,,,,BANF acoustic neurinoma,TRUE,FALSE,Retired +GARD:808,Legacy,GARD,,,,,,,,,,,,Baker Vinters syndrome,TRUE,FALSE,Active +GARD:809,Active,Orphanet,ORPHA:1223,Disorder,[Disease],Balantidiasis,"[Balantidiosis, Ciliary dysentery]","Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.",,,,,,Balantidiasis,TRUE,FALSE,Active +GARD:81,Active,Orphanet+OMIM,OMIM:309590,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, x-linked, syndromic, turner type","[mental retardation and macrocephaly syndrome, mental retardation, x-linked, with growth retardation, deafness, and microgenitalism, juberg-marsidi syndrome, mental retardation, x-linked, syndromic, brooks-wisniewski-brown type, Mental retardation, x-linked, syndromic, turner type, brooks-wisniewski-brown syndrome]","Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by {8:Moortgat et al., 2018}).",[309590],[528084],[Non-specific syndromic intellectual disability],[17965],,Juberg Marsidi syndrome,TRUE,FALSE,Active +GARD:811,Legacy,GARD,,,,,,,,,,,,Balo disease,FALSE,FALSE,Retired +GARD:812,Active,Orphanet,ORPHA:1227,Disorder,[Malformation syndrome],Bangstad syndrome,[Ataxia-diabetes-goiter-gonadal insufficiency syndrome],"Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.",[210740],,,,,Bangstad syndrome,TRUE,FALSE,Active +GARD:813,Active,Orphanet,ORPHA:1228,Disorder,[Malformation syndrome],Banki syndrome,,"Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.",[109300],,,,,Banki syndrome,TRUE,FALSE,Active +GARD:815,Legacy,GARD,,,,,,,,,,,,Baraitser Brett Piesowicz syndrome,TRUE,FALSE,Retired +GARD:8155,Legacy,GARD,,,,,,,,,,,,4-hydroxyphenylacetic aciduria,TRUE,FALSE,Active +GARD:8156,Legacy,GARD,,,,,,,,,,,,Adenomyosis,FALSE,FALSE,Active +GARD:8157,Legacy,GARD,,,,,,,,,,,,Anthrax,TRUE,FALSE,Active +GARD:8158,Legacy,GARD,,,,,,,,,,,,Cutaneous anthrax,TRUE,FALSE,Active +GARD:816,Active,Orphanet,ORPHA:2753,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 4,"[Baraitser-Burn syndrome, Mohr-Majewski syndrome, OFD4, Oral-facial-digital syndrome type 4]","Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.",[258860],,,,,Orofaciodigital syndrome 4,TRUE,FALSE,Active +GARD:8160,Legacy,GARD,,,,,,,,,,,,Hutchinson incisors,TRUE,FALSE,Active +GARD:8162,Legacy,GARD,,,,,,,,,,,,Myxozoa,TRUE,FALSE,Active +GARD:8165,Legacy,GARD,,,,,,,,,,,,Megalocytic interstitial nephritis,TRUE,FALSE,Active +GARD:8167,Legacy,GARD,,,,,,,,,,,,Palmoplantar keratoderma,TRUE,FALSE,Active +GARD:8168,Legacy,GARD,,,,,,,,,,,,Pontoneocerebellar Hypoplasia,TRUE,FALSE,Retired +GARD:8169,Active,Orphanet,ORPHA:238593,Subtype of disorder,[Clinical subtype],IgG4-related mesenteritis,"[Isolated mesenteric lipodystrophy, Lipomatous mesenteritis, Liposclerotic mesenteritis, Mesenteric lipogranuloma, Mesenteric panniculitis, Sclerosing mesenteritis]","Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).",,,,,,Sclerosing mesenteritis,TRUE,FALSE,Active +GARD:817,Legacy,GARD,,,,,,,,,,,,Baraitser Rodeck Garner syndrome,TRUE,FALSE,Retired +GARD:8170,Legacy,GARD,,,,,,,,,,,,Severe infantile axonal neuropathy,TRUE,FALSE,Active +GARD:8171,Legacy,GARD,,,,,,,,,,,,Candida glabrata,TRUE,FALSE,Active +GARD:8172,Legacy,GARD,,,,,,,,,,,,Transient global amnesia,TRUE,FALSE,Active +GARD:8173,Active,Orphanet,ORPHA:15,Disorder,[Disease],Achondroplasia,,"A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.",[100800],,,,,Achondroplasia,TRUE,FALSE,Active +GARD:8174,Active,Orphanet,ORPHA:1547,Disorder,[Malformation syndrome],Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,"[Cryptomicrotia-brachydactyly syndrome, Tonoki-Ohura-Niikawa syndrome]","A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.",[123560],,,,,Cryptomicrotia brachydactyly syndrome,TRUE,FALSE,Active +GARD:8176,Legacy,GARD,,,,,,,,,,,,Achard syndrome,TRUE,FALSE,Active +GARD:8177,Legacy,GARD,,,,,,,,,,,,Basedow's coma,TRUE,FALSE,Active +GARD:8178,Active,Orphanet+OMIM,OMIM:604379,Subtype of disorder,[Disease subtype],Hypotrichosis 7,"[hypotrichosis, autosomal recessive, hypotrichosis, total, mari type, Hypotrichosis, localized, autosomal recessive 2]",,[604379],"[170, 55654]","[Hypotrichosis simplex, Woolly hair]","[9170, 5597]",,"Total Hypotrichosis, Mari type",TRUE,FALSE,Active +GARD:8180,Legacy,GARD,,,,,,,,,,,,Punctate porokeratosis,TRUE,FALSE,Active +GARD:8182,Active,Orphanet,ORPHA:3250,Disorder,[Malformation syndrome],Proximal symphalangism,"[Symphalangism, Cushing type]","Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.","[185800, 615298]",,,,,Proximal symphalangism,TRUE,FALSE,Active +GARD:8184,Legacy,GARD,,,,,,,,,,,,"Ossicular Malformations, familial",TRUE,FALSE,Active +GARD:8189,Active,Orphanet,ORPHA:2445,Group of disorders,[Category],Conotruncal heart malformations,,"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).",[217095],,,,,Conotruncal heart malformations,TRUE,FALSE,Active +GARD:819,Active,Orphanet,ORPHA:1231,Disorder,[Malformation syndrome],Barber-Say syndrome,[Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome],"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.",[209885],,,,,Barber Say syndrome,TRUE,FALSE,Active +GARD:8192,Legacy,GARD,,,,,,,,,,,,Uveal diseases,TRUE,FALSE,Active +GARD:8194,Active,Orphanet,ORPHA:1560,Disorder,[Disease],Cysticercosis,,"Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.",,,,,,Cysticercosis,TRUE,FALSE,Active +GARD:8195,Active,Orphanet,ORPHA:76,Disorder,[Disease],Strongyloidiasis,"[Anguilluliasis, Anguillulosis]",A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).,,,,,,Strongyloidiasis,TRUE,FALSE,Active +GARD:8196,Legacy,GARD,,,,,,,,,,,,Spirurida Infections,TRUE,FALSE,Active +GARD:8197,Active,Orphanet,ORPHA:819,Disorder,[Malformation syndrome],Smith-Magenis syndrome,[17p11.2 microdeletion syndrome],"A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).",[182290],,,,,Smith-Magenis syndrome,TRUE,FALSE,Active +GARD:8198,Active,Orphanet,ORPHA:39041,Disorder,[Disease],Omenn syndrome,[Combined immunodeficiency with hypereosinophilia],"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).",[603554],,,,,Omenn syndrome,TRUE,FALSE,Active +GARD:8199,Legacy,GARD,,,,,,,,,,,,"Acute myeloid leukemia, childhood",TRUE,FALSE,Retired +GARD:82,Active,Orphanet,ORPHA:2332,Disorder,[Malformation syndrome],KBG syndrome,[Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome],"A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.",[148050],,,,,KBG syndrome,TRUE,FALSE,Active +GARD:820,Active,Orphanet+OMIM,OMIM:209900,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 1,,"Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by {5:Beales et al., 1999}). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by {52:Scheidecker et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Bardet-Biedl Syndrome\n\nBBS1 is caused by mutation in a gene on chromosome 11q13 ({209901}); BBS2 ({615981}), by mutation in a gene on 16q13 ({606151}); BBS3 ({600151}), by mutation in the ARL6 gene on 3q11 ({608845}); BBS4 ({615982}), by mutation in a gene on 15q22 ({600374}); BBS5 ({615983}), by mutation in a gene on 2q31 ({603650}); BBS6 ({605231}), by mutation in the MKKS gene on 20p12 ({604896}); BBS7 ({615984}), by mutation in a gene on 4q27 ({607590}); BBS8 ({615985}), by mutation in the TTC8 gene on 14q32 ({608132}); BBS9 ({615986}), by mutation in a gene on 7p14 ({607968}); BBS10 ({615987}), by mutation in a gene on 12q21 ({610148}); BBS11 ({615988}), by mutation in the TRIM32 gene on 9q33 ({602290}); BBS12 ({615989}), by mutation in a gene on 4q27 ({610683}); BBS13 ({615990}), by mutation in the MKS1 gene ({609883}) on 17q23; BBS14 ({615991}), by mutation in the CEP290 gene ({610142}) on 12q21, BBS15 ({615992}), by mutation in the WDPCP gene ({613580}) on 2p15; BBS16 ({615993}), by mutation in the SDCCAG8 gene ({613524}) on 1q43; BBS17 ({615994}), by mutation in the LZTFL1 gene ({606568}) on 3p21; BBS18 ({615995}), by mutation in the BBIP1 gene ({613605}) on 10q25; BBS19 ({615996}), by mutation in the IFT27 gene ({615870}) on 22q12; BBS20 ({619471}), by mutation in the IFT172 gene ({607386}) on 9p21; BBS21 ({617406}), by mutation in the CFAP418 gene ({614477}) on 8q22; and BBS22 ({617119}), by mutation in the IFT74 gene ({608040}) on 9p21.\n\nThe CCDC28B gene ({610162}) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; {609884}), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.\n\nAlthough BBS had originally been thought to be a recessive disorder, {33:Katsanis et al. (2001)} demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While {33:Katsanis et al. (2001)} called this 'triallelic inheritance,' {10:Burghes et al. (2001)} suggested the term 'recessive inheritance with a modifier of penetrance.' {47:Mykytyn et al. (2002)} found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, {21:Fan et al. (2004)} found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).\n\nAllelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 ({613464}), caused by TTC8 mutation, and RP55 ({613575}), caused by ARL6 mutation.",[209900],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 1,TRUE,FALSE,Active +GARD:8200,Legacy,GARD,,,,,,,,,,,,Secernentea Infections,TRUE,FALSE,Active +GARD:8203,Legacy,GARD,,,,,,,,,,,,Rhabditida Infections,TRUE,FALSE,Active +GARD:8204,Active,Orphanet,ORPHA:761,Disorder,[Disease],Immunoglobulin A vasculitis,"[Anaphylactoid purpura, Henoch-Schönlein purpura, IgA vasculitis, Purpura rheumatica, Rheumatoid purpura]","A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes.",,,,,,Henoch-Schonlein purpura,TRUE,FALSE,Active +GARD:8206,Active,Orphanet,ORPHA:1023,Subtype of disorder,[Clinical subtype],"Congenital generalized hypertrichosis, Ambras type",[Ambras syndrome],"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.",[145701],,,,,Ambras syndrome,TRUE,FALSE,Active +GARD:8207,Active,Orphanet,ORPHA:251912,Disorder,[Disease],Pineocytoma,,"Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.",,,,,,Pineocytoma,TRUE,FALSE,Active +GARD:8208,Active,Orphanet,ORPHA:289326,Disorder,[Disease],Tropical spastic paraparesis,"[HAM/TSP, HTLV-1-associated myelopathy/tropical spastic paraparesis, Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis, Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis, TSP]","Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.",[159580],,,,,HTLV-1 associated myelopathy/tropical spastic paraparesis,TRUE,FALSE,Active +GARD:821,Active,Orphanet+OMIM,OMIM:615981,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 2,,"BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment ({4:Innes et al., 2010}). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases ({11:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615981],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 2,TRUE,FALSE,Active +GARD:8211,Legacy,GARD,,,,,,,,,,,,Neurofibrosarcoma,TRUE,FALSE,Active +GARD:8214,Active,Orphanet,ORPHA:501,Disorder,[Disease],Lafora disease,"[EPM2, PME type 2, Progressive myoclonic epilepsy type 2, Progressive myoclonus epilepsy type 2]","A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.",[254780],,,,,Lafora disease,TRUE,FALSE,Active +GARD:8215,Legacy,GARD,,,,,,,,,,,,Mondini dysplasia,TRUE,FALSE,Active +GARD:8216,Active,Orphanet,ORPHA:2459,Disorder,[Disease],Mansonelliasis,[Mansonellosis],"A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.",,,,,,Mansonelliasis,TRUE,FALSE,Active +GARD:8217,Legacy,GARD,,,,,,,,,,,,"Lymphoma, small cleaved-cell, follicular",TRUE,FALSE,Retired +GARD:8218,Legacy,GARD,,,,,,,,,,,,"Lymphoma, small cleaved-cell, diffuse",TRUE,FALSE,Retired +GARD:8219,Legacy,GARD,,,,,,,,,,,,"Lymphoma, large-cell, immunoblastic",TRUE,FALSE,Active +GARD:822,Active,Orphanet+OMIM,OMIM:600151,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 3,,"BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise ({8:Young et al., 1998}; {5:Ghadami et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[600151],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 3,TRUE,FALSE,Active +GARD:8220,Legacy,GARD,,,,,,,,,,,,"Lymphoma, large-cell",TRUE,FALSE,Retired +GARD:8221,Legacy,GARD,,,,,,,,,,,,Lymphoma AIDS related,TRUE,FALSE,Active +GARD:8223,Active,Orphanet,ORPHA:86852,Disorder,[Disease],B-cell prolymphocytic leukemia,[B-PLL],"A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.",,,,,,B cell prolymphocytic leukemia,TRUE,FALSE,Active +GARD:8224,Legacy,GARD,,,,,,,,,,,,"Leukemia, T-cell, chronic",TRUE,FALSE,Active +GARD:8225,Active,Orphanet,ORPHA:98823,Disorder,[Disease],Chronic myelomonocytic leukemia,[CMML],"A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature. Infiltration of the liver, spleen, lymph nodes, and other organs is common. Persistent peripheral blood monocytosis with monocytes accounting for more than 10% of leukocytes is the hallmark of the condition. Blasts constitute less than 20% of the cells in the peripheral blood and bone marrow. Other abnormalities are variable. Patients may present with constitutional symptoms, signs and symptoms of hematopoietic insufficiency, and hepatosplenomegaly. The disease is associated with a risk of transformation to acute myeloid leukemia.",,,,,,Chronic myelomonocytic leukemia,TRUE,FALSE,Active +GARD:8226,Legacy,GARD,,,,,,,,,,,,Myeloid leukemia,TRUE,FALSE,Active +GARD:8227,Legacy,GARD,,,,,,,,,,,,"Leukemia, B-cell, chronic",TRUE,FALSE,Retired +GARD:8229,Legacy,GARD,,,,,,,,,,,,Portal hypertension,FALSE,FALSE,Active +GARD:823,Active,Orphanet+OMIM,OMIM:615982,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 4,,"BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS ({4:Katsanis et al., 2002}). Anosmia has been described in patients with BBS4 ({3:Iannaccone et al., 2005}), as well as polydactyly confined to the hands ({1:Carmi et al., 1995}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615982],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 4,TRUE,FALSE,Active +GARD:8230,Legacy,GARD,,,,,,,,,,,,Homocysteinemia,TRUE,FALSE,Active +GARD:8231,Active,Orphanet,ORPHA:157987,Group of disorders,[Clinical group],Non-Langerhans cell histiocytosis,,,,,,,,Non-Langerhans-Cell Histiocytosis,TRUE,FALSE,Active +GARD:8232,Active,Orphanet,ORPHA:252054,Disorder,[Disease],Hemangioblastoma,,"Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.",,,,,,Hemangioblastoma,TRUE,FALSE,Active +GARD:8233,Active,Orphanet,ORPHA:355,Disorder,[Disease],Gaucher disease,"[Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency]","Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).","[230900, 231005, 230800, 610539, 608013, 231000]",,,,,Gaucher disease,TRUE,FALSE,Active +GARD:8234,Active,Orphanet,ORPHA:47612,Disorder,[Disease],Felty syndrome,[Splenomegaly-neutropenia-rheumatoid arthritis syndrome],"Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.",[134750],,,,,Felty's syndrome,TRUE,FALSE,Active +GARD:8235,Legacy,GARD,,,,,,,,,,,,Esotropia,TRUE,FALSE,Active +GARD:8236,Legacy,GARD,,,,,,,,,,,,Drug induced dyskinesia,FALSE,FALSE,Active +GARD:8238,Active,Orphanet,ORPHA:251899,Disorder,[Disease],Choroid plexus carcinoma,,"Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.",[260500],,,,,Choroid plexus carcinoma,TRUE,FALSE,Active +GARD:824,Active,Orphanet,ORPHA:572,Disorder,[Disease],Immunodeficiency by defective expression of MHC class II,"[Bare lymphocyte syndrome type 2, MHC class II deficiency]","A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.",[209920],,,,,Bare lymphocyte syndrome 2,TRUE,FALSE,Active +GARD:8240,Active,Orphanet+OMIM,OMIM:145300,Subtype of disorder,[Disease subtype],"Hypersensitivity pneumonitis, familial",,"From Australia, {1:Allen et al. (1975)} described 2 families in each of which the father had hypersensitivity pneumonitis due to exposure to avian antigens. Two sons in 1 family and 2 sons and a daughter in a second family were similarly affected. Both families kept pigeons and budgerigars. HLA typing to detect possible linkage to immune response gene(s) ({146880}) seemed inconclusive. The possibility that hexachlorobenzene, used by both families for eradication of mites, might have damaged the bronchial mucosa or acted as an immunologic adjuvant was considered.",[145300],[99908],[Pigeon-breeder lung disease],[16924],,Familial hypersensitivity pneumonitis,TRUE,FALSE,Retired +GARD:8241,Active,Orphanet,ORPHA:158029,Disorder,[Disease],Sea-blue histiocytosis,,,[269600],,,,,Sea-Blue histiocytosis,TRUE,FALSE,Active +GARD:8242,Legacy,GARD,,,,,,,,,,,,5-Nucleotidase syndrome,TRUE,FALSE,Active +GARD:8244,Legacy,GARD,,,,,,,,,,,,Brain stem cancer,TRUE,FALSE,Active +GARD:8246,Legacy,GARD,,,,,,,,,,,,Auditory processing disorder,FALSE,FALSE,Draft +GARD:8249,Active,Orphanet,ORPHA:75564,Disorder,[Disease],Acquired idiopathic sideroblastic anemia,"[AISA, Primary acquired sideroblastic anemia, RARS, Refractory anemia with ringed sideroblasts]","A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.",,,,,,Sideroblastic anemia pyridoxine-refractory autosomal recessive,TRUE,FALSE,Active +GARD:825,Legacy,GARD,,,,,,,,,,,,Barnicoat Baraitser syndrome,TRUE,FALSE,Active +GARD:8250,Legacy,GARD,,,,,,,,,,,,AIDS Dementia Complex,TRUE,FALSE,Active +GARD:8252,Legacy,GARD,,,,,,,,,,,,Hyperadrenalism,TRUE,FALSE,Active +GARD:8254,Active,Orphanet,ORPHA:319266,Disorder,[Disease],Omsk hemorrhagic fever,,"Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.",,,,,,Omsk hemorrhagic fever,TRUE,FALSE,Active +GARD:8257,Active,Orphanet,ORPHA:319254,Disorder,[Disease],Kyasanur forest disease,"[Kyasanur hemorrhagic fever, Monkey disease, Monkey fever]","A rare infectious disease caused by the kyasanura forest disease virus and clinically characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.",,,,,,Kyasanur Forest disease,TRUE,FALSE,Active +GARD:8258,Legacy,GARD,,,,,,,,,,,,Mediastinal endodermal sinus tumors,TRUE,FALSE,Active +GARD:8259,Active,Orphanet,ORPHA:54028,Disorder,[Disease],Plummer-Vinson syndrome,"[Kelly-Paterson syndrome, Sideropenic dysphagia]","Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.",,,,,,Plummer Vinson syndrome,TRUE,FALSE,Active +GARD:826,Active,Orphanet,ORPHA:1826,Disorder,[Disease],Frontometaphyseal dysplasia,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.","[305620, 617137]",,,,,Frontometaphyseal dysplasia,TRUE,FALSE,Active +GARD:8265,Legacy,GARD,,,,,,,,,,,,Arakawa's syndrome 2,TRUE,FALSE,Retired +GARD:8267,Legacy,GARD,,,,,,,,,,,,Morel's ear,TRUE,FALSE,Retired +GARD:8270,Active,Orphanet,ORPHA:2349,Disorder,[Disease],Muscular pseudohypertrophy-hypothyroidism syndrome,"[Hoffmann syndrome, Kocher-Debré-Semelaigne syndrome]","Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).",,,,,,Kocher-Debre-Semelaigne syndrome,TRUE,FALSE,Active +GARD:8273,Legacy,GARD,,,,,,,,,,,,Mutagen sensitivity,TRUE,FALSE,Active +GARD:8275,Active,Orphanet,ORPHA:50943,Disorder,[Disease],Keratolytic winter erythema,"[Erythrokeratolysis hiemalis, Oudtshoorn disease]","Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.",[148370],,,,,Keratolytic winter erythema,TRUE,FALSE,Active +GARD:8276,Legacy,GARD,,,,,,,,,,,,De Sanctis-Cacchione syndrome,TRUE,FALSE,Active +GARD:8278,Legacy,GARD,,,,,,,,,,,,"Cataract, congenital, with microcornea or slight microphthalmia",TRUE,FALSE,Active +GARD:8280,Legacy,GARD,,,,,,,,,,,,Dupuytren subungual exostosis,TRUE,FALSE,Active +GARD:8282,Active,Orphanet,ORPHA:85450,Disorder,[Disease],Hereditary amyloidosis with primary renal involvement,"[Amyloidosis, Ostertag type, Familial amyloid nephropathy, Familial renal amyloidosis, Hereditary amyloid nephropathy, Hereditary renal amyloidosis]","A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.",[105200],,,,,Amyloidosis familial visceral,TRUE,FALSE,Active +GARD:8283,Active,Orphanet+OMIM,OMIM:606129,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 2,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[606129],[124],[Blackfan-Diamond anemia],[6274],,Diamond-Blackfan anemia 2,TRUE,FALSE,Active +GARD:8291,Legacy,GARD,,,,,,,,,,,,Egg shaped pupils,TRUE,FALSE,Active +GARD:8295,Active,Orphanet,ORPHA:1460,Disorder,[Disease],Isolated complex III deficiency,"[Isolated CoQ-cytochrome C reductase deficiency, Isolated coenzyme Q-cytochrome C reductase deficiency, Isolated mitochondrial respiratory chain complex III deficiency, Isolated ubiquinone-cytochrome C reductase deficiency]","Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).","[615160, 615157, 124000, 616111, 615158, 615159, 615838, 615453, 615824, 618775]",,,,,Mitochondrial complex III deficiency,TRUE,FALSE,Active +GARD:83,Active,Orphanet,ORPHA:93325,Subtype of disorder,[Etiological subtype],Autosomal dominant Kenny-Caffey syndrome,,"A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.",[127000],,,,,Kenny-Caffey syndrome type 2,TRUE,FALSE,Active +GARD:830,Legacy,GARD,,,,,,,,,,,,Bartter syndrome antenatal type 1,TRUE,FALSE,Active +GARD:8309,Active,Orphanet,ORPHA:988,Disorder,[Malformation syndrome],Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,"[Absent tibia-polydactyly syndrome, Werner mesomelic spectrum]","Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.",[188740],,,,,Absence of tibia with polydactyly,TRUE,FALSE,Active +GARD:831,Legacy,GARD,,,,,,,,,,,,Basal cell nevus anodontia abnormal bone mineralization,TRUE,FALSE,Retired +GARD:8310,Active,Orphanet,ORPHA:273,Disorder,[Disease],Steinert myotonic dystrophy,"[Myotonic dystrophy type 1, Steinert disease]","A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.",[160900],,,,,Myotonic dystrophy type 1,TRUE,FALSE,Active +GARD:8311,Legacy,GARD,,,,,,,,,,,,"Cardiomyopathy, fatal fetal, due to myocardial calcification",TRUE,FALSE,Active +GARD:8312,Active,Orphanet,ORPHA:52530,Disorder,[Disease],Pseudo-von Willebrand disease,"[PT-VWD, Platelet type-von Willebrand disease, Pseudo-von Willebrand disease type 2B]","A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.",[177820],,,,,Pseudo-Von Willebrand disease,TRUE,FALSE,Active +GARD:8313,Legacy,GARD,,,,,,,,,,,,Angiomyomatous Hamartoma,TRUE,FALSE,Active +GARD:8317,Active,Orphanet,ORPHA:98289,Group of disorders,[Category],Dendritic cell tumor,,,,,,,,Dendritic cell tumor,TRUE,FALSE,Active +GARD:8320,Legacy,GARD,,,,,,,,,,,,Mosaic monosomy 22,TRUE,FALSE,Active +GARD:8322,Legacy,GARD,,,,,,,,,,,,Diabetic mastopathy,TRUE,FALSE,Active +GARD:8324,Legacy,GARD,,,,,,,,,,,,Swyer-James syndrome,TRUE,FALSE,Active +GARD:8325,Legacy,GARD,,,,,,,,,,,,Trisomy 11 mosaicism,TRUE,FALSE,Active +GARD:8326,Legacy,GARD,,,,,,,,,,,,Yusho Disease,TRUE,FALSE,Active +GARD:8329,Active,Orphanet,ORPHA:56304,Disorder,[Malformation syndrome],Atelosteogenesis type II,"[AO2, AOII, Atelosteogenesis type 2, De la Chapelle dysplasia, Neonatal osseous dysplasia type 1]","A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.",[256050],,,,,Atelosteogenesis type 2,TRUE,FALSE,Active +GARD:833,Legacy,GARD,,,,,,,,,,,,Basaran Yilmaz syndrome,TRUE,FALSE,Active +GARD:8331,Active,Orphanet,ORPHA:52368,Disorder,[Disease],Mohr-Tranebjaerg syndrome,"[DDON syndrome, Deafness-dystonia-optic neuronopathy syndrome, Hearing loss-dystonia-optic neuronopathy syndrome]","An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.",[304700],,,,,Mohr-Tranebjaerg syndrome,TRUE,FALSE,Active +GARD:8333,Active,Orphanet,ORPHA:69739,Disorder,[Disease],Athabaskan brainstem dysgenesis syndrome,"[ABSD, Athabascan brainstem dysgenesis syndrome, Navajo brainstem syndrome]","A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.",[601536],,,,,Human HOXA1 Syndromes,TRUE,FALSE,Active +GARD:8334,Active,Orphanet,ORPHA:98902,Disorder,[Disease],Amish nemaline myopathy,,A type of nemaline myopathy (NM) only observed in several families of the Amish community.,[605355],,,,,Amish Nemaline Myopathy,TRUE,FALSE,Active +GARD:8335,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 2,TRUE,FALSE,Retired +GARD:8336,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 4,TRUE,FALSE,Retired +GARD:8337,Active,Orphanet,ORPHA:63999,Subtype of disorder,[Clinical subtype],IgG4-related mediastinitis,"[Fibrosing mediastinitis, Mediastinal fibrosis, Sclerosing mediastinitis]","A rare systemic autoimmune disease characterized by an aggressive fibroinflammatory process with infiltration of IgG4-positive plasma cells in the mediastinum, potentially resulting in compression and functional impairment of vital mediastinal structures, and associated with elevated serum IgG4. Clinical symptoms are unspecific and include pain or symptoms due to mass effect. The condition may occur together with IgG4-related disease in other parts of the body.",,,,,,Fibrosing mediastinitis,TRUE,FALSE,Active +GARD:8338,Active,Orphanet,ORPHA:42775,Disorder,[Malformation syndrome],PHACE syndrome,"[PHACES syndrome, Pascual-Castroviejo syndrome type 2]","PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.","[140850, 606519]",,,,,PHACE syndrome,TRUE,FALSE,Active +GARD:8341,Active,Orphanet,ORPHA:559,Disorder,[Disease],Marinesco-Sjögren syndrome,,"Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.",[248800],,,,,Marinesco-Sjogren syndrome,TRUE,FALSE,Active +GARD:8343,Active,Orphanet,ORPHA:168544,Disorder,[Disease],"Spondylometaphyseal dysplasia, Golden type",[X-linked spondylometaphyseal dysplasia],"Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.",[313420],,,,,Spondylometaphyseal dysplasia X-linked,TRUE,FALSE,Active +GARD:8344,Active,Orphanet,ORPHA:97345,Subtype of disorder,[Clinical subtype],ABri amyloidosis,"[Familial dementia, British type]","A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.",[176500],,,,,ABri amyloidosis,TRUE,FALSE,Active +GARD:8345,Active,Orphanet,ORPHA:220436,Disorder,[Disease],Quebec platelet disorder,[Factor V Quebec],"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.",[601709],,,,,Quebec platelet disorder,TRUE,FALSE,Active +GARD:8346,Legacy,GARD,,,,,,,,,,,,"Albinism, minimal pigment type",TRUE,FALSE,Retired +GARD:8348,Legacy,GARD,,,,,,,,,,,,Pulmonary edema of mountaineers,TRUE,FALSE,Active +GARD:8349,Active,Orphanet,ORPHA:100033,Subtype of disorder,[Clinical subtype],Hypomaturation amelogenesis imperfecta,[Amelogenesis imperfecta type 2],,"[615887, 612529, 614832, 617217, 301200, 613211, 204700]",,,,,Amelogenesis imperfecta hypomaturation type,TRUE,FALSE,Active +GARD:835,Active,Orphanet,ORPHA:1875,Disorder,[Disease],Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,[Bassoe syndrome],"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.",[254000],,,,,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,TRUE,FALSE,Active +GARD:8355,Legacy,GARD,,,,,,,,,,,,Kaolin pneumoconiosis,TRUE,FALSE,Active +GARD:8356,Legacy,GARD,,,,,,,,,,,,Coal worker's pneumoconiosis,TRUE,FALSE,Active +GARD:8357,Legacy,GARD,,,,,,,,,,,,Aluminosis,TRUE,FALSE,Active +GARD:8358,Legacy,GARD,,,,,,,,,,,,Shaver disease,TRUE,FALSE,Retired +GARD:8359,Legacy,GARD,,,,,,,,,,,,Graphite Pneumoconiosis,TRUE,FALSE,Active +GARD:836,Active,Orphanet,ORPHA:1948,Disorder,[Malformation syndrome],Epilepsy-microcephaly-skeletal dysplasia syndrome,[Battaglia-Neri syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.",[601352],,,,,Battaglia-Neri syndrome,TRUE,FALSE,Active +GARD:8360,Active,Orphanet,ORPHA:85332,Disorder,[Disease],X-linked intellectual disability-retinitis pigmentosa syndrome,"[Aldred syndrome, Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion, Retinitis pigmentosa and intellectual disability due to del(X)(p11.3), Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3]","X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.",[300578],,,,,Aldred syndrome,TRUE,FALSE,Active +GARD:8367,Active,Orphanet,ORPHA:93324,Subtype of disorder,[Etiological subtype],Autosomal recessive Kenny-Caffey syndrome,,"A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.",[244460],,,,,Kenny-Caffey syndrome type 1,TRUE,FALSE,Active +GARD:8368,Legacy,GARD,,,,,,,,,,,,"Granulomas, congenital cerebral",TRUE,FALSE,Active +GARD:8370,Active,Orphanet,ORPHA:70472,Disorder,[Disease],"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","[COX deficiency, French-Canadian type, Cytochrome C oxidase deficiency, French-Canadian type, Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency]","Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.","[220111, 619065]",,,,,"Leigh syndrome, French Canadian type",TRUE,FALSE,Active +GARD:8371,Legacy,GARD,,,,,,,,,,,,Baritosis,TRUE,FALSE,Active +GARD:8372,Legacy,GARD,,,,,,,,,,,,Silicosiderosis,TRUE,FALSE,Active +GARD:8374,Legacy,GARD,,,,,,,,,,,,Labrador lung,TRUE,FALSE,Active +GARD:8378,Active,Orphanet,ORPHA:731,Disorder,[Disease],Autosomal recessive polycystic kidney disease,[AR-PKD],"A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.","[617610, 263200]",,,,,Autosomal recessive polycystic kidney disease,TRUE,FALSE,Active +GARD:8379,Legacy,GARD,,,,,,,,,,,,"Arachidonic acid, absence of",TRUE,FALSE,Retired +GARD:838,Active,Orphanet,ORPHA:113,Disorder,[Disease],Bazex-Dupré-Christol syndrome,"[BDCS, Follicular atrophoderma and basal cell carcinomas]",Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.,[301845],,,,,Bazex-Dupre-Christol syndrome,TRUE,FALSE,Active +GARD:8380,Active,Orphanet,ORPHA:51608,Disorder,[Disease],Generalized arterial calcification of infancy,"[Idiopathic infantile arterial calcification, Idiopathic obliterative arteriopathy, Infantile arteriosclerosis, Occlusive infantile arteriopathy]","A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","[208000, 614473]",,,,,Arterial calcification of infancy,TRUE,FALSE,Active +GARD:8382,Legacy,GARD,,,,,,,,,,,,2-Methylacetoacetyl CoA thiolase deficiency,TRUE,FALSE,Active +GARD:8383,Legacy,GARD,,,,,,,,,,,,Biliary hypoplasia,TRUE,FALSE,Active +GARD:8386,Legacy,GARD,,,,,,,,,,,,Global disaccharide intolerance,TRUE,FALSE,Active +GARD:8387,Active,Orphanet,ORPHA:20,Disorder,[Disease],3-hydroxy-3-methylglutaric aciduria,"[3-hydroxy-3-methylglutaryl-CoA lyase deficiency, HMG-CoA lyase deficiency, Hydroxymethylglutaric aciduria]","A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.",[246450],,,,,HMG CoA lyase deficiency,TRUE,FALSE,Active +GARD:8388,Legacy,GARD,,,,,,,,,,,,Hydroxycarboxylic aciduria,TRUE,FALSE,Retired +GARD:839,Legacy,GARD,,,,,,,,,,,,Bazopoulou-Kyrkanidou syndrome,TRUE,FALSE,Retired +GARD:8391,Active,Orphanet,ORPHA:664,Disorder,[Disease],Ornithine transcarbamylase deficiency,"[OCT deficiency, OTC deficiency, Ornithine carbamoyltransferase deficiency]","A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.",[311250],,,,,Ornithine transcarbamylase deficiency,TRUE,FALSE,Active +GARD:8394,Legacy,GARD,,,,,,,,,,,,Hypolipoproteinemia,TRUE,FALSE,Active +GARD:8395,Legacy,GARD,,,,,,,,,,,,"Leukodystrophy, pseudometachromatic",TRUE,FALSE,Retired +GARD:8397,Active,Orphanet,ORPHA:168598,Disorder,[Disease],Brain demyelination due to methionine adenosyltransferase deficiency,"[MAT I/III deficiency, MAT deficiency, Methionine adenosyltransferase deficiency]",Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.,[250850],,,,,Methionine adenosyltransferase deficiency,TRUE,FALSE,Active +GARD:8398,Legacy,GARD,,,,,,,,,,,,Peroxisome disorders,FALSE,FALSE,Active +GARD:84,Active,Orphanet+OMIM,OMIM:608594,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 1","[lipodystrophy, berardinelli-seip congenital, type 1, Berardinelli-seip congenital lipodystrophy, type 1, brunzell syndrome, agpat2-related]","Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia ({12:Garg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Congenital Generalized Lipodystrophy\n\nAlso see CGL2 ({269700}), caused by mutation in the BSCL2 gene ({606158}); CGL3 ({612526}), caused by mutation in the CAV1 gene ({601047}); and CGL4 ({613327}), caused by mutation in the PTRF gene ({603198}).",[608594],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 1,TRUE,FALSE,Active +GARD:8400,Legacy,GARD,,,,,,,,,,,,Galactorrhoea-Hyperprolactinaemia,TRUE,FALSE,Active +GARD:8401,Legacy,GARD,,,,,,,,,,,,Galactocele,TRUE,FALSE,Active +GARD:8402,Legacy,GARD,,,,,,,,,,,,Pseudopolycythaemia,TRUE,FALSE,Active +GARD:8403,Legacy,GARD,,,,,,,,,,,,Supranuclear ocular palsy,TRUE,FALSE,Active +GARD:8406,Active,Orphanet+OMIM,OMIM:305700,Subtype of disorder,[Disease subtype],"Spermatogenic failure, x-linked, 1","[Sertoli cell-only syndrome, del castillo syndrome, germinal cell aplasia]","In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({4:Sargent et al., 1999}).\n\nThere is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; {400042}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[305700],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,Sertoli cell-only syndrome,TRUE,FALSE,Active +GARD:8407,Active,Orphanet,ORPHA:1305,Disorder,[Malformation syndrome],Feingold syndrome,"[Brunner-Winter syndrome, Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum, FGLDS, FS, MMT, MODED syndrome, Microcephaly-digital anomalies-normal intelligence syndrome, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome, Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome, ODED syndrome, Oculo-digito-esophageal-duodenal syndrome]","A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.","[614326, 164280]",,,,,Feingold syndrome,TRUE,FALSE,Active +GARD:841,Legacy,GARD,,,,,,,,,,,,Bd syndrome,TRUE,FALSE,Active +GARD:8410,Active,Orphanet,ORPHA:246,Disorder,[Malformation syndrome],Postaxial acrofacial dysostosis,"[Acrofacial dysostosis, Genee-Wiedemann type, Mandibulofacial dysostosis with postaxial limb anomalies, Miller syndrome, POADS, Postaxial acrodysostosis]","A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.",[263750],,,,,Miller syndrome,TRUE,FALSE,Active +GARD:8413,Legacy,GARD,,,,,,,,,,,,Camera Marugo Cohen syndrome,TRUE,FALSE,Active +GARD:8414,Active,Orphanet,ORPHA:888,Disorder,[Malformation syndrome],Van der Woude syndrome,"[Cleft lip/palate with mucous cysts of lower lip, Lip-pit syndrome, VWS]","Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.","[119300, 604547, 606713]",,,,,Van der Woude syndrome,TRUE,FALSE,Active +GARD:8415,Legacy,GARD,,,,,,,,,,,,Van Bogaert-Hozay syndrome,TRUE,FALSE,Active +GARD:8416,Active,Orphanet,ORPHA:398166,Disorder,[Malformation syndrome],Focal facial dermal dysplasia,[FFDD],"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","[227260, 614973, 614974, 136500]",,,,,Focal facial dermal dysplasia,TRUE,FALSE,Active +GARD:8417,Draft,GARD,,Disorder,[Clinical syndrome],Renal cell carcinoma 4,[RCC4],,,[217071],[Renal cell carcinoma],[13215],,Renal cell carcinoma 4,TRUE,FALSE,Active +GARD:8419,Active,Orphanet,ORPHA:137902,Disorder,[Morphological anomaly],Isolated optic nerve hypoplasia/aplasia,,"A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.",[165550],,,,,"Optic nerve hypoplasia, familial bilateral",TRUE,FALSE,Active +GARD:842,Active,Orphanet,ORPHA:2206,Disorder,[Malformation syndrome],Ankylosing vertebral hyperostosis with tylosis,,"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.",[106400],,,,,Ankylosing vertebral hyperostosis with tylosis,TRUE,FALSE,Active +GARD:8420,Legacy,GARD,,,,,,,,,,,,Kifafa seizure disorder,TRUE,FALSE,Active +GARD:8421,Active,Orphanet,ORPHA:884,Disorder,[Malformation syndrome],Tetrasomy 12p,"[Isochromosome 12p mosaicism, Isochromosome 12p syndrome, Pallister-Killian syndrome]",Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.,[601803],,,,,Pallister-Killian mosaic syndrome,TRUE,FALSE,Active +GARD:8422,Active,Orphanet,ORPHA:709,Disorder,[Malformation syndrome],Peters plus syndrome,"[Krause-Kivlin syndrome, Krause-van Schooneveld-Kivlin syndrome, Peters anomaly with short limb dwarfism]","Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.",[261540],,,,,Peters plus syndrome,TRUE,FALSE,Active +GARD:8423,Active,Orphanet,ORPHA:1399,Disorder,[Malformation syndrome],Richards-Rundle syndrome,"[Ketoaciduria-intellectual disability-ataxia-deafness syndrome, Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome]","Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.",[245100],,,,,Richards-Rundle syndrome,TRUE,FALSE,Active +GARD:8424,Active,Orphanet,ORPHA:42062,Disorder,[Disease],Iminoglycinuria,,"A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.",[242600],,,,,Iminoglycinuria,TRUE,FALSE,Active +GARD:8426,Active,Orphanet,ORPHA:95720,Disorder,[Morphological anomaly],Thyroid hypoplasia,,"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,Thyroid dysgenesis,TRUE,FALSE,Active +GARD:8427,Active,Orphanet,ORPHA:34592,Disorder,[Disease],Immunodeficiency by defective expression of MHC class I,"[Bare lymphocyte syndrome type 1, MHC class I deficiency]","A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.","[241600, 604571]",,,,,Bare lymphocyte syndrome,TRUE,FALSE,Active +GARD:8428,Active,Orphanet,ORPHA:1512,Disorder,[Malformation syndrome],Crane-Heise syndrome,,"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.",[218090],,,,,Crane-Heise syndrome,TRUE,FALSE,Active +GARD:8429,Legacy,GARD,,,,,,,,,,,,"Genu valgum, st Helena familial",TRUE,FALSE,Active +GARD:8431,Legacy,GARD,,,,,,,,,,,,Axial osteomalacia,TRUE,FALSE,Active +GARD:8432,Active,Orphanet,ORPHA:168572,Disorder,[Malformation syndrome],Native American myopathy,[Congenital myopathy-cleft palate-malignant hyperthermia syndrome],"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.",[255995],,,,,STAC3 Disorder,TRUE,FALSE,Active +GARD:8433,Active,Orphanet,ORPHA:99741,Disorder,[Malformation syndrome],King-Denborough syndrome,[Koussef-Nichols syndrome],"King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.",[145600],,,,,King Denborough syndrome,TRUE,FALSE,Active +GARD:8435,Active,Orphanet,ORPHA:2856,Disorder,[Malformation syndrome],Persistent Müllerian duct syndrome,"[PMDS, Persistent Müllerian derivatives]","Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.",[261550],,,,,Persistent Müllerian duct syndrome,TRUE,FALSE,Active +GARD:8436,Active,Orphanet,ORPHA:282,Group of disorders,[Clinical group],Frontotemporal dementia,[FTD],"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).","[172700, 607485, 600274, 600795]",,,,,Frontotemporal dementia,TRUE,FALSE,Active +GARD:8437,Legacy,GARD,,,,,,,,,,,,Glassy cell carcinoma of the cervix,TRUE,FALSE,Active +GARD:8438,Active,Orphanet,ORPHA:3387,Disorder,[Disease],Isolated anterior cervical hypertrichosis,"[Hairy throat syndrome, Tsukahara-Kajii syndrome]",A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.,[600457],,,,,Isolated anterior cervical hypertrichosis,TRUE,FALSE,Active +GARD:844,Active,Orphanet+OMIM,OMIM:255700,Subtype of disorder,[Disease subtype],"Myotonia congenita, autosomal recessive","[Becker disease, myotonia, generalized]","Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness ({8:Koch et al., 1993}). Becker disease is more common and more severe than Thomsen disease.",[255700],[614],[Thomsen and Becker disease],[12301],,Myotonia congenita autosomal recessive,TRUE,FALSE,Draft +GARD:8442,Legacy,GARD,,,,,,,,,,,,Partial corpus callosum agenesis,TRUE,FALSE,Retired +GARD:8444,Legacy,GARD,,,,,,,,,,,,Keratoconjunctivitis sicca,FALSE,FALSE,Retired +GARD:8445,Legacy,GARD,,,,,,,,,,,,Giant papillary conjunctivitis,TRUE,FALSE,Active +GARD:8446,Legacy,GARD,,,,,,,,,,,,Conjunctivitis with Pseudomembrane,TRUE,FALSE,Active +GARD:8449,Active,Orphanet,ORPHA:85202,Disorder,[Malformation syndrome],Keutel syndrome,[Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome],"Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.",[245150],,,,,Keutel syndrome,TRUE,FALSE,Active +GARD:8451,Legacy,GARD,,,,,,,,,,,,Sener syndrome,TRUE,FALSE,Active +GARD:8452,Legacy,GARD,,,,,,,,,,,,Tièche-Jadassohn nevus,TRUE,FALSE,Active +GARD:8456,Legacy,GARD,,,,,,,,,,,,Stomatocytosis II,TRUE,FALSE,Retired +GARD:8457,Active,Orphanet,ORPHA:32960,Disorder,[Disease],Tumor necrosis factor receptor 1 associated periodic syndrome,"[Familial Hibernian fever, TNF receptor 1-associated periodic syndrome, TRAPS syndrome]","Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).",[142680],,,,,Tumor necrosis factor receptor-associated periodic syndrome,TRUE,FALSE,Active +GARD:846,Active,Orphanet,ORPHA:1237,Disorder,[Malformation syndrome],Beemer-Ertbruggen syndrome,[Lethal hydrocephalus-cardiac malformation-dense bones syndrome],"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.",[209970],,,,,Beemer Ertbruggen syndrome,TRUE,FALSE,Active +GARD:8460,Legacy,GARD,,,,,,,,,,,,Anton's syndrome,TRUE,FALSE,Active +GARD:8461,Legacy,GARD,,,,,,,,,,,,Hairy palms and soles,TRUE,FALSE,Active +GARD:8465,Legacy,GARD,,,,,,,,,,,,Hairy nose tip,TRUE,FALSE,Active +GARD:8466,Active,Orphanet,ORPHA:3453,Disorder,[Disease],Autoimmune polyendocrinopathy type 1,"[APECED syndrome, APS type 1, APS1, Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome, Autoimmune polyendocrine syndrome type 1, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, Autoimmune polyglandular syndrome type 1, HAM syndrome, Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome, MEDAC syndrome, Multiple endocrine deficiency-Addison disease-candidiasis syndrome]","A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.",[240300],,,,,Autoimmune polyglandular syndrome type 1,TRUE,FALSE,Active +GARD:8468,Active,Orphanet,ORPHA:252206,Disorder,[Disease],Melanoma and neural system tumor syndrome,[Melanoma-astrocytoma syndrome],Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).,[155755],,,,,Melanoma astrocytoma syndrome,TRUE,FALSE,Active +GARD:8470,Legacy,GARD,,,,,,,,,,,,"Microcephaly, holoprosencephaly, and intrauterine growth retardation",TRUE,FALSE,Active +GARD:8471,Active,Orphanet,ORPHA:54,Disorder,[Disease],X-linked recessive ocular albinism,"[OA1, Ocular albinism type 1, Ocular albinism, Nettleship-Falls type, XLOA]","X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.",[300500],,,,,Ocular albinism type 1,TRUE,FALSE,Active +GARD:8472,Active,Orphanet,ORPHA:575,Disorder,[Disease],Muckle-Wells syndrome,[Neutrophilic urticaria],"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).",[191900],,,,,Muckle-Wells syndrome,TRUE,FALSE,Active +GARD:8476,Active,Orphanet,ORPHA:99718,Disorder,[Disease],Leber plus disease,[LHON plus disease],"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.","[500001, 165200]",,,,,Leber hereditary optic neuropathy with dystonia,TRUE,FALSE,Active +GARD:8477,Legacy,GARD,,,,,,,,,,,,Renal oncocytoma,TRUE,FALSE,Active +GARD:8479,Active,Orphanet,ORPHA:538756,Disorder,[Disease],Familial multiple discoid fibromas,[Familial multiple trichodiscomas],"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.",[190340],,,,,Familial multiple trichodiscomas,TRUE,FALSE,Active +GARD:848,Active,Orphanet,ORPHA:117,Disorder,[Disease],Behçet disease,,"A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.",[109650],,,,,Behçet disease,TRUE,FALSE,Active +GARD:8480,Active,Orphanet,ORPHA:90349,Disorder,[Disease],Autosomal recessive cutis laxa type 1,"[ARCL1, Autosomal recessive cutis laxa with severe systemic involvement, Autosomal recessive cutis laxa, pulmonary emphysema type]","A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","[219100, 614437]",,,,,"Cutis laxa, autosomal recessive type 1",TRUE,FALSE,Active +GARD:8482,Legacy,GARD,,,,,,,,,,,,Thumb deformity,TRUE,FALSE,Active +GARD:8484,Legacy,GARD,,,,,,,,,,,,Trigger thumb,TRUE,FALSE,Active +GARD:8485,Active,Orphanet,ORPHA:85203,Disorder,[Malformation syndrome],Acropectoral syndrome,"[ACRP syndrome, Syndactyly-preaxial polydactyly-sternal deformity syndrome]","A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.",[605967],,,,,Acropectoral syndrome,TRUE,FALSE,Active +GARD:8486,Active,Orphanet,ORPHA:2953,Disorder,[Disease],Musculocontractural Ehlers-Danlos syndrome,"[Adducted thumb-clubfoot syndrome, Distal arthrogryposis with peculiar facies and hydronephrosis, Dündar syndrome, Ehlers-Danlos syndrome, Kosho type, Musculocontractural EDS, mcEDS]","A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.","[601776, 615539]",,,,,Musculocontractural Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:8487,Active,Orphanet,ORPHA:199267,Disorder,[Disease],Infantile digital fibromatosis,"[Inclusion body fibromatosis, Recurring digital fibrous tumor of childhood, Reye tumor]","Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.",,,,,,Infantile digital fibromatosis,TRUE,FALSE,Active +GARD:8488,Active,Orphanet,ORPHA:319487,Disorder,[Disease],Familial papillary or follicular thyroid carcinoma,"[FNMTC, Familial pure nonmedullary thyroid carcinoma]","Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.","[603386, 188550, 606240, 188470, 616534, 603744, 616535]",,,,,"Nonmedullary thyroid carcinoma, with or without cell oxyphilia",TRUE,FALSE,Active +GARD:8489,Legacy,GARD,,,,,,,,,,,,MASS phenotype,TRUE,FALSE,Active +GARD:849,Legacy,GARD,,,,,,,,,,,,Behr syndrome,TRUE,FALSE,Active +GARD:8490,Legacy,GARD,,,,,,,,,,,,Ectopia pupillae,TRUE,FALSE,Active +GARD:8491,Active,Orphanet+OMIM,OMIM:606190,Subtype of disorder,[Disease subtype],"Meningioma, radiation-induced",,"Following radiotherapy, secondary cancer may occur after a long latent period. {1:Zattara-Cannoni et al. (2001)} reported cytogenetic studies of 6 cases of radiation-induced meningiomas. Two of the cases occurred after radiation for tinea capitis, after an interval of 17 and 54 years, respectively; in the first of these cases, local recurrence occurred after an additional period of 29 years. Using spectral karyotyping (SKY) and comparative genomic hybridization (CGH), {1:Zattara-Cannoni et al. (2001)} found that all 6 cases had the same chromosome abnormality, t(1;22)(p11;q12). They suggested that a gene on chromosome 1p11 is involved in radiation-induced meningiomas. A locus in the 22q12.3-qter region is a well-established site of mutation causing meningioma (see {156100}).",[606190],[2495],[Meningioma],[7015],,Radiation induced meningioma,TRUE,FALSE,Active +GARD:8494,Legacy,GARD,,,,,,,,,,,,Ribbing disease,TRUE,FALSE,Active +GARD:8495,Active,Orphanet,ORPHA:139507,Disorder,[Disease],African iron overload,[Bantu siderosis],"A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.",[601195],,,,,Bantu siderosis,TRUE,FALSE,Active +GARD:8497,Active,Orphanet+OMIM,OMIM:605472,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iic",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({5:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901}).",[605472],[231178],[Usher syndrome type 2],[5440],,"Usher syndrome, type 2C",TRUE,FALSE,Active +GARD:8498,Legacy,GARD,,,,,,,,,,,,"VACTERL association with hydrocephaly, X-linked",TRUE,FALSE,Active +GARD:8499,Legacy,GARD,,,,,,,,,,,,Thyroid hormone plasma membrane transport defect,TRUE,FALSE,Active +GARD:85,Active,Orphanet,ORPHA:2655,Disorder,[Disease],Thanatophoric dysplasia,[TD],"A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.","[187601, 187600, 156830]",,,,,Thanatophoric dysplasia,TRUE,FALSE,Active +GARD:8500,Legacy,GARD,,,,,,,,,,,,Cholesterol pneumonia,TRUE,FALSE,Active +GARD:8501,Active,Orphanet,ORPHA:171723,Disorder,[Disease],White sponge nevus,"[Hereditary mucosal leukokeratosis, White sponge nevus of Cannon]","White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.","[615785, 193900]",,,,,White sponge nevus of cannon,TRUE,FALSE,Active +GARD:8502,Legacy,GARD,,,,,,,,,,,,Coloboma of optic nerve,TRUE,FALSE,Active +GARD:8503,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma of the head and neck,FALSE,FALSE,Active +GARD:8505,Active,Orphanet,ORPHA:75497,Disorder,[Disease],X-linked Ehlers-Danlos syndrome,"[EDS V, Ehlers-Danlos syndrome type 5, X-linked EDS]","A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.",,,,,,Ehlers-Danlos syndrome type 5,TRUE,FALSE,Retired +GARD:8507,Active,Orphanet,ORPHA:230839,Disorder,[Disease],Classical-like Ehlers-Danlos syndrome type 1,"[Classical-like EDS type 1, Ehlers-Danlos syndrome due to tenascin-X deficiency, clEDS type 1]","A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogeric skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.",[606408],,,,,Classical-like Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:8508,Legacy,GARD,,,,,,,,,,,,"Ehlers-Danlos syndrome, dysfibronectinemic type",TRUE,FALSE,Active +GARD:8509,Active,Orphanet,ORPHA:1133,Disorder,[Malformation syndrome],AREDYLD syndrome,[Acrorenal defect-ectodermal dysplasia-diabetes syndrome],"A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.",[207780],,,,,AREDYLD,TRUE,FALSE,Active +GARD:8510,Legacy,GARD,,,,,,,,,,,,Microcephaly with spastic quadriplegia,TRUE,FALSE,Active +GARD:8513,Legacy,GARD,,,,,,,,,,,,Retroperitoneal liposarcoma,TRUE,FALSE,Active +GARD:8514,Legacy,GARD,,,,,,,,,,,,Visceral steatosis,TRUE,FALSE,Active +GARD:8516,Legacy,GARD,,,,,,,,,,,,Familial myelofibrosis,TRUE,FALSE,Retired +GARD:8517,Active,Orphanet,ORPHA:384,Disorder,[Disease],Huriez syndrome,"[Palmoplantar hyperkeratosis-sclerodactyly syndrome, Palmoplantar keratoderma-sclerodactyly syndrome, Scleroatrophic syndrome, Sclerotylosis]","A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.",[181600],,,,,Palmoplantar keratoderma-sclerodactyly syndrome,TRUE,FALSE,Active +GARD:8518,Legacy,GARD,,,,,,,,,,,,Absence of gluteal muscle,TRUE,FALSE,Active +GARD:8519,Legacy,GARD,,,,,,,,,,,,Cardioauditory syndrome of Sanchez Cascos,TRUE,FALSE,Active +GARD:852,Legacy,GARD,,,,,,,,,,,,Ben Ari Shuper Mimouni syndrome,TRUE,FALSE,Active +GARD:8520,Active,Orphanet,ORPHA:1568,Disorder,[Malformation syndrome],X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,,"A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.",[304340],,,,,"Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures",TRUE,FALSE,Active +GARD:8521,Active,Orphanet,ORPHA:1145,Disorder,[Disease],Infantile-onset X-linked spinal muscular atrophy,"[SMAX2, Spinal muscular atrophy with arthrogryposis, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2]","A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.",[301830],,,,,"Arthrogryposis multiplex congenita, distal, X-linked",TRUE,FALSE,Active +GARD:8522,Legacy,GARD,,,,,,,,,,,,Capillary hemangioblastoma,TRUE,FALSE,Retired +GARD:8524,Legacy,GARD,,,,,,,,,,,,Supraumbilical midabdominal raphe and facial cavernous hemangiomas,TRUE,FALSE,Active +GARD:8526,Active,Orphanet,ORPHA:171700,Disorder,[Disease],Diffuse panbronchiolitis,,"Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis",[604809],,,,,Diffuse panbronchiolitis,TRUE,FALSE,Active +GARD:8527,Active,Orphanet+OMIM,OMIM:234810,Subtype of disorder,[Disease subtype],"Pulmonary venoocclusive disease 2, autosomal recessive","[Hemangiomatosis, familial pulmonary capillary]","Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see {178600}). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by {2:Eyries et al., 2014}).\n\nFor a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 ({265450}).",[234810],[199241],[Pulmonary capillary hemangiomatosis],[15027],,"Hemangiomatosis, familial pulmonary capillary",TRUE,FALSE,Active +GARD:8528,Active,Orphanet,ORPHA:244242,Disorder,[Disease],HELLP syndrome,"[Hemolysis, elevated liver enzymes, low platelets in pregnancy, Hemolysis-elevated liver enzymes-low platelets syndrome]","A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.",,,,,,HELLP syndrome,TRUE,FALSE,Active +GARD:8529,Active,Orphanet,ORPHA:295044,Disorder,[Morphological anomaly],Macrodactyly of fingers,[Macrodactyly of hand],"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.",,,,,,Macrodactyly of fingers,TRUE,FALSE,Active +GARD:853,Active,Orphanet,ORPHA:100978,Disorder,[Malformation syndrome],Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,[Benallegue-Lacete syndrome],"A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.",,,,,,Benallegue Lacete syndrome,TRUE,FALSE,Active +GARD:8530,Active,Orphanet,ORPHA:399805,Disorder,[Disease],Male infertility with azoospermia or oligozoospermia due to single gene mutation,,"A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.","[617960, 617706, 270960, 619202, 615413, 617707, 615841, 619108, 258150, 615842, 108420, 618086, 615081, 618115, 613957, 305700, 618110, 309120, 616950]",,,,,Spermatogenesis arrest,TRUE,FALSE,Active +GARD:8531,Active,Orphanet+OMIM,OMIM:248340,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 3,"[Facial clefting syndrome, gypsy type, malpuech facial clefting syndrome, formerly]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).",[248340],[293843],[3MC syndrome],[1118],,Malpuech facial clefting syndrome,TRUE,FALSE,Retired +GARD:8532,Active,Orphanet,ORPHA:220460,Disorder,[Disease],Attenuated familial adenomatous polyposis,"[AFAP, Attenuated FAP, Attenuated familial polyposis coli]","A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.","[612591, 616415, 175100, 615083, 608456]",,,,,Attenuated familial adenomatous polyposis,TRUE,FALSE,Active +GARD:8533,Active,Orphanet,ORPHA:443909,Group of disorders,[Clinical group],Hereditary nonpolyposis colon cancer,"[Familial nonpolyposis colon cancer, Familial nonpolyposis colorectal cancer, HNPCC, Hereditary nonpolyposis colorectal cancer]","A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.",,,,,,Familial colorectal cancer,TRUE,FALSE,Active +GARD:8534,Legacy,GARD,,,,,,,,,,,,Eosinophilic pustular folliculitis,TRUE,FALSE,Active +GARD:8535,Active,Orphanet,ORPHA:661,Disorder,[Disease],Congenital central hypoventilation syndrome,"[CCHS, Congenital central alveolar hypoventilation syndrome, Ondine curse, Ondine syndrome]",Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.,[209880],,,,,Congenital central hypoventilation syndrome,TRUE,FALSE,Active +GARD:8538,Active,Orphanet,ORPHA:98085,Group of disorders,[Category],"46,XY disorder of sex development","[46,XY DSD]",,,,,,,"46, XY disorders of sexual development",TRUE,FALSE,Active +GARD:8539,Active,Orphanet,ORPHA:210128,Disorder,[Disease],Urocanic aciduria,[Encephalopathy due to urocanase deficiency],Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.,[276880],,,,,Urocanase deficiency,TRUE,FALSE,Active +GARD:8540,Legacy,GARD,,,,,,,,,,,,"Trypanosomiasis, Human West-African",TRUE,FALSE,Active +GARD:8541,Active,Orphanet,ORPHA:95432,Group of disorders,[Clinical group],Primary progressive aphasia,"[Mesulam syndrome, PPA]","Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).",,,,,,Primary progressive aphasia,TRUE,FALSE,Active +GARD:8542,Active,Orphanet,ORPHA:93442,Group of disorders,[Clinical group],Chondrodysplasia punctata,[CDP],,,,,,,Chondrodysplasia punctata syndrome,TRUE,FALSE,Active +GARD:8543,Legacy,GARD,,,,,,,,,,,,Accessory navicular bone,FALSE,FALSE,Active +GARD:8546,Legacy,GARD,,,,,,,,,,,,Accessory deep peroneal nerve,TRUE,FALSE,Active +GARD:8547,Active,Orphanet,ORPHA:358,Disorder,[Disease],Gitelman syndrome,,A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.,[263800],,,,,Gitelman syndrome,TRUE,FALSE,Active +GARD:8548,Active,Orphanet,ORPHA:98856,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B1,"[AR-CMT2B1, Autosomal recessive Charcot-Marie-Tooth disease type 2B1, Autosomal recessive axonal CMT4C1]","Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.",[605588],,,,,Charcot-Marie-Tooth disease type 2B1,TRUE,FALSE,Active +GARD:8549,Active,Orphanet,ORPHA:570,Disorder,[Disease],Moebius syndrome,[Möbius syndrome],"A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.",[157900],,,,,Moebius syndrome,TRUE,FALSE,Active +GARD:855,Legacy,GARD,,,,,,,,,,,,Benign autosomal dominant myopathy,TRUE,FALSE,Active +GARD:8550,Active,Orphanet,ORPHA:86920,Disorder,[Disease],Dermatopathia pigmentosa reticularis,,"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.",[125595],,,,,Dermatopathia pigmentosa reticularis,TRUE,FALSE,Active +GARD:8552,Legacy,GARD,,,,,,,,,,,,"Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification",TRUE,FALSE,Active +GARD:8553,Active,Orphanet,ORPHA:31709,Disorder,[Disease],Infantile convulsions and choreoathetosis,"[ICCA syndrome, Paroxysmal kinesigenic dyskinesia and infantile convulsions]",Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.,[602066],,,,,Familial infantile convulsions and paroxysmal choreoathetosis,TRUE,FALSE,Active +GARD:8554,Legacy,GARD,,,,,,,,,,,,"Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch",TRUE,FALSE,Active +GARD:8555,Active,Orphanet,ORPHA:93571,Subtype of disorder,[Histopathological subtype],Dense deposit disease,[Membranoproliferative glomerulonephritis type 2],"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.",[609814],,,,,Dense deposit disease,TRUE,FALSE,Active +GARD:8556,Legacy,GARD,,,,,,,,,,,,Rowley-Rosenberg syndrome,TRUE,FALSE,Active +GARD:8557,Active,Orphanet+OMIM,OMIM:300062,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 14",,,[300062],[777],[X-linked non-syndromic intellectual disability],[18640],,"Mental retardation, X-linked 14",TRUE,FALSE,Retired +GARD:8558,Legacy,GARD,,,,,,,,,,,,Burning mouth syndrome type 3,TRUE,FALSE,Retired +GARD:8559,Active,Orphanet+OMIM,OMIM:194071,Subtype of disorder,[Disease subtype],Wilms tumor 2,,,[194071],[654],[Nephroblastoma],[7892],,Familial Wilms tumor 2,TRUE,FALSE,Active +GARD:856,Active,Orphanet+OMIM,OMIM:601764,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 1",,"Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal ({3:Franzoni et al., 2005}).\n\nSee also benign familial neonatal seizures (BFNS1; {121200}).\n\n{1:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Benign Familial Infantile Seizures\n\nThe BFIS1 locus has been mapped to chromosome 19q. BFIS2 ({605751}) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 ({607745}), which is caused by the mutations in the SCN2A gene ({182390}) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 ({612627}) has been mapped to chromosome 1p. BFIS5 ({617080}) is caused by mutation in the SCN8A gene ({600702}) on chromosome 12q13. BFIS6 (see {610353}) is caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21.",[601764],[306],[Benign familial infantile epilepsy],[857],,"Convulsions, benign familial infantile, 1",TRUE,FALSE,Active +GARD:8561,Legacy,GARD,,,,,,,,,,,,Kousseff Nichols syndrome,TRUE,FALSE,Active +GARD:8562,Active,Orphanet,ORPHA:808,Disorder,[Malformation syndrome],Seckel syndrome,,"A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.","[606744, 615807, 210600, 616777, 616051, 613823, 616171, 600546, 613676]",,,,,Seckel syndrome,TRUE,FALSE,Active +GARD:8563,Active,Orphanet,ORPHA:238606,Disorder,[Disease],Primary orthostatic tremor,[POT],"Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.",,,,,,Primary orthostatic tremor,TRUE,FALSE,Active +GARD:8564,Legacy,GARD,,,,,,,,,,,,Fetal cystic hygroma,TRUE,FALSE,Active +GARD:8565,Legacy,GARD,,,,,,,,,,,,Radiation induced brachial plexopathy,TRUE,FALSE,Active +GARD:8566,Legacy,GARD,,,,,,,,,,,,Radio-ulnar synostosis type 2,TRUE,FALSE,Active +GARD:8567,Legacy,GARD,,,,,,,,,,,,Situs inversus totalis with cystic dysplasia of kidneys and pancreas,TRUE,FALSE,Active +GARD:8568,Legacy,GARD,,,,,,,,,,,,Acinic cell carcinoma,TRUE,FALSE,Active +GARD:8569,Legacy,GARD,,,,,,,,,,,,Warthin tumor,TRUE,FALSE,Active +GARD:857,Active,Orphanet,ORPHA:306,Disorder,[Disease],Benign familial infantile epilepsy,"[BFIE, BFIS, Benign familial infantile convulsions, Benign familial infantile seizures]","Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.","[612627, 605751, 617080, 607745, 601764]",,,,,Benign familial infantile epilepsy,TRUE,FALSE,Active +GARD:8570,Active,Orphanet,ORPHA:83601,Disorder,[Disease],Steroid-responsive encephalopathy associated with autoimmune thyroiditis,"[Hashimoto encephalitis, SREAT]","Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.",,,,,,Hashimoto encephalopathy,TRUE,FALSE,Active +GARD:8571,Legacy,GARD,,,,,,,,,,,,Polycystic bone disease,TRUE,FALSE,Active +GARD:8572,Legacy,GARD,,,,,,,,,,,,Intervertebral disc disease,FALSE,FALSE,Active +GARD:8573,Active,Orphanet,ORPHA:219,Disorder,[Disease],Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,"[Autosomal recessive limb-girdle muscular dystrophy type 2F, Delta-sarcoglycan-related LGMD R6, Delta-sarcoglycanopathy, LGMD due to delta-sarcoglycan deficiency, LGMD type 2F, LGMD2F, Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2F]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.",[601287],,,,,Limb-girdle muscular dystrophy type 2F,TRUE,FALSE,Active +GARD:8574,Active,Orphanet,ORPHA:268,Disorder,[Disease],Dysferlin-related limb-girdle muscular dystrophy R2,"[Autosomal recessive limb-girdle muscular dystrophy type 2B, Dysferlin-related LGMD R2, LGMD due to dysferlin deficiency, LGMD type 2B, LGMD2B, Limb-girdle muscular dystrophy due to dysferlin deficiency, Limb-girdle muscular dystrophy type 2B]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.",[253601],,,,,Limb-girdle muscular dystrophy type 2B,TRUE,FALSE,Active +GARD:8575,Legacy,GARD,,,,,,,,,,,,"Myasthenia gravis, limb-girdle",TRUE,FALSE,Active +GARD:8576,Legacy,GARD,,,,,,,,,,,,Balkan endemic nephropathy,TRUE,FALSE,Active +GARD:8577,Active,Orphanet,ORPHA:280898,Group of disorders,[Category],Panuveitis,[Total uveitis],,,,,,,Panuveitis,TRUE,FALSE,Active +GARD:8578,Active,Orphanet+OMIM,OMIM:602404,Subtype of disorder,[Disease subtype],"Parkinson disease 3, autosomal dominant",,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[602404],[2828],[Young-onset Parkinson disease],[16610],,Parkinson disease type 3,TRUE,FALSE,Active +GARD:8580,Active,Orphanet,ORPHA:1914,Disorder,[Malformation syndrome],Vitamin K antagonist embryofetopathy,"[Vitamin K antagonist embryopathy, Warfarin embryofetopathy, Warfarin embryopathy, di Sala syndrome]","Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.",,,,,,Warfarin syndrome,TRUE,FALSE,Active +GARD:8582,Legacy,GARD,,,,,,,,,,,,Autoimmune Inner Ear disease,TRUE,FALSE,Active +GARD:8583,Active,Orphanet,ORPHA:306527,Disorder,[Morphological anomaly],Isolated hereditary congenital facial paralysis,,"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.",[601471],,,,,Hereditary congenital facial paresis,TRUE,FALSE,Active +GARD:8584,Legacy,GARD,,,,,,,,,,,,Calabro syndrome,TRUE,FALSE,Active +GARD:8585,Active,Orphanet,ORPHA:1517,Disorder,[Malformation syndrome],Cantú syndrome,"[Congenital hypertrichosis-acromegaloid facial features spectrum, Congenital hypertrichosis-coarse facial features spectrum, Hypertrichotic osteochondrodysplasia]","Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.",[239850],,,,,Cantu syndrome,TRUE,FALSE,Active +GARD:8586,Active,Orphanet,ORPHA:2872,Disorder,[Malformation syndrome],"Cardiocranial syndrome, Pfeiffer type","[Craniosynostosis-congenital heart disease-intellectual disability syndrome, Pfeiffer-Singer-Zschiesche syndrome]","A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.",[218450],,,,,Pfeiffer-type cardiocranial syndrome,TRUE,FALSE,Active +GARD:8587,Legacy,GARD,,,,,,,,,,,,"Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert",TRUE,FALSE,Active +GARD:8588,Active,Orphanet+OMIM,OMIM:144010,Subtype of disorder,[Disease subtype],"Hypercholesterolemia, familial, 2","[hypercholesterolemia, familial, due to ligand-defective apolipoprotein b, Hypercholesterolemia, autosomal dominant, type b, apolipoprotein b-100, familial ligand-defective, apolipoprotein b-100, familial defective]",,[144010],[391665],[Homozygous familial hypercholesterolemia],[10416],,Autosomal dominant type B hypercholesterolemia,FALSE,FALSE,Active +GARD:8589,Legacy,GARD,,,,,,,,,,,,Coffin syndrome 1,TRUE,FALSE,Active +GARD:8590,Legacy,GARD,,,,,,,,,,,,Heterochromia iridis,FALSE,FALSE,Active +GARD:8591,Draft,GARD,,Disorder,[Disease],X-linked visceral heterotaxy 1,"[HTX1, Laterality, X-linked, Situs inversus, complex cardiac defects, and splenic defects, X-linked, Heterotaxy, visceral, 1, X-linked, Heterotaxy, visceral, X-linked]","X-linked visceral heterotaxy type 1 is a rare form of heterotaxy. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by genetic changes in the ZIC3 gene, is inherited in an X-linked recessive fashion. It is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus.",[306955],[450],[Heterotaxia],[10875],,X-linked visceral heterotaxy 1,TRUE,FALSE,Active +GARD:8592,Active,Orphanet,ORPHA:98920,Disorder,[Disease],Spinal muscular atrophy with respiratory distress type 1,"[Autosomal recessive distal spinal muscular atrophy type 1, Autosomal recessive spinal muscular atrophy with respiratory distress, Diaphragmatic spinal muscular atrophy, Distal hereditary motor neuropathy type 6, Distal-HMN type 6, SIANRF, SMARD1, Severe infantile axonal neuropathy with respiratory failure type 1, dHMN6, dSMA1]","Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.",[604320],,,,,Spinal muscular atrophy with respiratory distress 1,TRUE,FALSE,Active +GARD:8593,Active,Orphanet,ORPHA:77296,Disorder,[Malformation syndrome],Morgagni-Stewart-Morel syndrome,[Hyperostosis frontalis interna],"A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.",[144800],,,,,Morgagni-Stewart-Morel syndrome,TRUE,FALSE,Active +GARD:8594,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 1A,TRUE,FALSE,Retired +GARD:8595,Active,Orphanet,ORPHA:96,Disorder,[Disease],Ataxia with vitamin E deficiency,"[AVED, Ataxia with isolated vitamin E deficiency, Familial isolated vitamin E deficiency, Friedreich-like ataxia, Isolated vitamin E deficiency]","A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.",[277460],,,,,Ataxia with vitamin E deficiency,TRUE,FALSE,Active +GARD:8596,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 2,TRUE,FALSE,Retired +GARD:8597,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 1B,TRUE,FALSE,Retired +GARD:8598,Active,Orphanet,ORPHA:44890,Disorder,[Disease],Gastrointestinal stromal tumor,"[GIST, Gastrointestinal stromal sarcoma]","Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.","[175510, 606764]",,,,,Gastrointestinal Stromal Tumors,TRUE,FALSE,Active +GARD:86,Active,Orphanet,ORPHA:314597,Disorder,[Malformation syndrome],Chudley-McCullough syndrome,,"Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.",[604213],,,,,Chudley-Mccullough syndrome,TRUE,FALSE,Active +GARD:860,Active,Orphanet,ORPHA:1548,Disorder,[Malformation syndrome],Cryptorchidism-arachnodactyly-intellectual disability syndrome,[Van Benthem-Driessen-Hanveld syndrome],"Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.",,,,,,Van Benthem-Driessen-Hanveld syndrome,TRUE,FALSE,Active +GARD:8600,Active,Orphanet,ORPHA:140969,Disorder,[Disease],Saldino-Mainzer syndrome,"[Conorenal syndrome, Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome]","Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.","[615630, 266920]",,,,,"Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia",TRUE,FALSE,Active +GARD:8602,Legacy,GARD,,,,,,,,,,,,Acetyl-carnitine deficiency,TRUE,FALSE,Active +GARD:8603,Legacy,GARD,,,,,,,,,,,,Acanthosis nigricans,FALSE,FALSE,Active +GARD:8604,Legacy,GARD,,,,,,,,,,,,Acanthoma,TRUE,FALSE,Active +GARD:8605,Active,Orphanet,ORPHA:91385,Group of disorders,[Clinical group],Acquired angioedema,"[AAE, Acquired C1 inhibitor deficiency, Acquired angioneurotic edema, Acquired bradykinine-induced angioedema, Acquired non histamine-induced angioedema]",A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.,[300909],,,,,Acquired angioedema,TRUE,FALSE,Active +GARD:8606,Active,Orphanet,ORPHA:99742,Disorder,[Malformation syndrome],Amish lethal microcephaly,,"A very rare syndrome characterized by extreme microcephaly and early death, within the first year.",[607196],,,,,Amish lethal microcephaly,TRUE,FALSE,Active +GARD:8607,Legacy,GARD,,,,,,,,,,,,Familial partial paralysis,TRUE,FALSE,Active +GARD:8609,Active,Orphanet,ORPHA:2032,Disorder,[Disease],Idiopathic pulmonary fibrosis,[IPF],"An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.","[178500, 616371, 616373]",,,,,Idiopathic pulmonary fibrosis,TRUE,FALSE,Active +GARD:8610,Active,Orphanet,ORPHA:199282,Disorder,[Disease],Harlequin syndrome,[Progressive isolated segmental anhidrosis],"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.",,,,,,Harlequin syndrome,TRUE,FALSE,Active +GARD:8612,Legacy,GARD,,,,,,,,,,,,Primary hyperparathyroidism,TRUE,FALSE,Active +GARD:8614,Active,Orphanet,ORPHA:232,Disorder,[Disease],Sickle cell anemia,,"A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.",[603903],,,,,Sickle cell anemia,TRUE,FALSE,Active +GARD:8615,Legacy,GARD,,,,,,,,,,,,Paget disease of bone,FALSE,FALSE,Active +GARD:8616,Active,Orphanet,ORPHA:2467,Group of disorders,[Clinical group],Systemic mastocytosis,,"A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.",,,,,,Systemic mastocytosis,TRUE,FALSE,Active +GARD:8618,Active,Orphanet,ORPHA:824,Disorder,[Disease],Primary myelofibrosis,"[Agnogenic myeloid metaplasia, Idiopathic myelofibrosis, Myelofibrosis with myeloid metaplasia, Osteomyelofibrosis]","A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.",[254450],,,,,Primary myelofibrosis,TRUE,FALSE,Active +GARD:8620,Legacy,GARD,,,,,,,,,,,,Glomus vagale tumor,TRUE,FALSE,Active +GARD:8621,Active,Orphanet,ORPHA:39044,Disorder,[Disease],Uveal melanoma,"[Choroidal melanoma, Iris melanoma]","Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.","[606661, 155720, 606660]",,,,,Intraocular melanoma,TRUE,FALSE,Active +GARD:8622,Active,Orphanet,ORPHA:169105,Disorder,[Disease],Good syndrome,[Thymoma-immunodeficiency syndrome],"Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.",,,,,,Immunodeficiency with thymoma,TRUE,FALSE,Active +GARD:8623,Active,Orphanet,ORPHA:2521,Disorder,[Malformation syndrome],Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,,"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.",,,,,,Halal syndrome,TRUE,FALSE,Active +GARD:8625,Active,Orphanet,ORPHA:33355,Disorder,[Disease],Reticular dysgenesis,"[AK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia, Severe combined immunodeficiency with leukopenia]",Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.,[267500],,,,,Reticular dysgenesis,TRUE,FALSE,Active +GARD:8627,Legacy,GARD,,,,,,,,,,,,Krukenberg carcinoma,TRUE,FALSE,Active +GARD:8629,Legacy,GARD,,,,,,,,,,,,Acute hemorrhagic leukoencephalitis,TRUE,FALSE,Active +GARD:863,Legacy,GARD,,,,,,,,,,,,IgA nephropathy,TRUE,FALSE,Active +GARD:8630,Legacy,GARD,,,,,,,,,,,,Chromosome 10q duplication,TRUE,FALSE,Active +GARD:8631,Active,Orphanet,ORPHA:1598,Disorder,[Disease],Monosomy 18p,"[18p- syndrome, De Grouchy syndrome]",Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.,[146390],,,,,Chromosome 18p deletion,TRUE,FALSE,Active +GARD:8635,Legacy,GARD,,,,,,,,,,,,2-hydroxyethyl methacrylate sensitization,TRUE,FALSE,Active +GARD:8638,Active,Orphanet,ORPHA:86851,Group of disorders,[Category],Acute leukemia of ambiguous lineage,"[Acute leukemia of indeterminate lineage, Hybrid acute leukemia, Mixed lineage acute leukemia]",,[601626],,,,,Acute leukemia of ambiguous lineage,TRUE,FALSE,Active +GARD:8639,Active,Orphanet,ORPHA:83597,Disorder,[Disease],Acute disseminated encephalomyelitis,"[ADEM, Acute disseminated encephalitis]",A demyelinating disorder of the central nervous system.,,,,,,Acute disseminated encephalomyelitis,TRUE,FALSE,Active +GARD:8640,Active,Orphanet,ORPHA:284454,Disorder,[Disease],Acute zonal occult outer retinopathy,[AZOOR],"A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.",,,,,,Acute zonal occult outer retinopathy,TRUE,FALSE,Active +GARD:8641,Legacy,GARD,,,,,,,,,,,,Adnexal spiradenoma/cylindroma of a sweat gland,TRUE,FALSE,Active +GARD:8642,Legacy,GARD,,,,,,,,,,,,Granulosa cell tumor of the ovary,TRUE,FALSE,Active +GARD:8644,Active,Orphanet,ORPHA:210122,Disorder,[Disease],Congenital alveolar capillary dysplasia,"[ACDMPV, Alveolar capillary dysplasia with misalignment of pulmonary veins, Alveolar capillary dysplasia with misalignment of pulmonary vessels]",Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.,[265380],,,,,Alveolar capillary dysplasia,TRUE,FALSE,Active +GARD:8646,Legacy,GARD,,,,,,,,,,,,Aneurysmal bone cysts,TRUE,FALSE,Active +GARD:8648,Legacy,GARD,,,,,,,,,,,,Desmoplastic infantile ganglioglioma,TRUE,FALSE,Active +GARD:8649,Legacy,GARD,,,,,,,,,,,,Benign eccrine spiradenoma,TRUE,FALSE,Active +GARD:8650,Legacy,GARD,,,,,,,,,,,,Embryonal sarcoma,TRUE,FALSE,Active +GARD:8651,Legacy,GARD,,,,,,,,,,,,Enlarged vestibular aqueduct syndrome,TRUE,FALSE,Active +GARD:8653,Active,Orphanet,ORPHA:90000,Disorder,[Disease],Erythema elevatum diutinum,,"Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.",,,,,,Erythema elevatum diutinum,TRUE,FALSE,Active +GARD:8655,Legacy,GARD,,,,,,,,,,,,Familial interstitial fibrosis,TRUE,FALSE,Retired +GARD:8658,Legacy,GARD,,,,,,,,,,,,Glomus tympanicum tumor,TRUE,FALSE,Active +GARD:8659,Active,Orphanet,ORPHA:93323,Disorder,[Morphological anomaly],Fibular hemimelia,"[Congenital longitudinal deficiency of the fibula, Fibular longitudinal meromelia]","A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.",,,,,,Fibular hemimelia,TRUE,FALSE,Active +GARD:8660,Active,Orphanet,ORPHA:221117,Disorder,[Disease],Gerstmann syndrome,,"Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.",,,,,,Gerstmann syndrome,TRUE,FALSE,Active +GARD:8661,Active,Orphanet,ORPHA:2368,Disorder,[Morphological anomaly],Gastroschisis,[Laparoschisis],"A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.",[230750],,,,,Gastroschisis,TRUE,FALSE,Active +GARD:8662,Legacy,GARD,,,,,,,,,,,,Osteodysplasty precocious of Danks Mayne and Kozlowski,TRUE,FALSE,Active +GARD:8663,Active,Orphanet,ORPHA:114,Disorder,[Malformation syndrome],Auriculoosteodysplasia,,"A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.",[109000],,,,,Auriculoosteodysplasia,TRUE,FALSE,Active +GARD:8667,Legacy,GARD,,,,,,,,,,,, Chondrodysplasia,TRUE,FALSE,Retired +GARD:8668,Legacy,GARD,,,,,,,,,,,,Chromosome 22q deletion,TRUE,FALSE,Active +GARD:8669,Legacy,GARD,,,,,,,,,,,,Chromosome 1q deletion,TRUE,FALSE,Active +GARD:867,Active,Orphanet,ORPHA:133,Disorder,[Disease],Chronic beryllium disease,"[Berylliosis, Chronic berylliosis, Chronic beryllium lung disease]","A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.",,,,,,Beryllium disease,TRUE,FALSE,Active +GARD:8672,Active,Orphanet,ORPHA:261494,Disorder,[Malformation syndrome],Kleefstra syndrome,,"A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.",[610253],,,,,Kleefstra syndrome,TRUE,FALSE,Active +GARD:8676,Legacy,GARD,,,,,,,,,,,,Weber syndrome,TRUE,FALSE,Active +GARD:8677,Legacy,GARD,,,,,,,,,,,,Y chromosome pericentric inversion,TRUE,FALSE,Retired +GARD:8680,Legacy,GARD,,,,,,,,,,,,Benign mesonephroma,TRUE,FALSE,Active +GARD:8683,Active,Orphanet,ORPHA:79235,Subtype of disorder,[Clinical subtype],Crigler-Najjar syndrome type 2,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2, Bilirubin-UGT deficiency type 2]","A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.",[606785],,,,,Crigler-Najjar syndrome type 2,TRUE,FALSE,Active +GARD:8684,Legacy,GARD,,,,,,,,,,,,Symmastia,TRUE,FALSE,Active +GARD:8685,Legacy,GARD,,,,,,,,,,,,Stachybotrys chartarum,TRUE,FALSE,Active +GARD:8686,Active,Orphanet,ORPHA:3261,Disorder,[Disease],Autoimmune lymphoproliferative syndrome,"[ALPS, Canale-Smith syndrome]","A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.","[603909, 618534, 601859, 615559]",,,,,Autoimmune lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:8687,Legacy,GARD,,,,,,,,,,,,Non-A-E hepatitis,TRUE,FALSE,Active +GARD:8689,Active,Orphanet,ORPHA:94075,Group of disorders,[Category],Severe immune-mediated enteropathy,"[Autoimmune enteropathy, Immune-mediated protracted diarrhea of infancy]","Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.",,,,,,Autoimmune enteropathy,TRUE,FALSE,Active +GARD:869,Active,Orphanet,ORPHA:118,Disorder,[Disease],Beta-mannosidosis,[Beta-mannosidase deficiency],"Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.",[248510],,,,,"Mannosidosis, beta A, lysosomal",TRUE,FALSE,Active +GARD:8692,Active,Orphanet,ORPHA:1489,Disorder,[Disease],Whooping cough,[Pertussis],"A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.",,,,,,Whooping cough,TRUE,FALSE,Active +GARD:8694,Active,Orphanet,ORPHA:216796,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 1,"[Adair-Dighton syndrome, Mild osteogenesis imperfecta, Non-deforming osteogenesis imperfecta, OI type 1, Van der Hoeve syndrome]","A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta and mild long bone bowing bone deformities.","[166230, 166200]",,,,,Osteogenesis imperfecta type I,TRUE,FALSE,Active +GARD:8695,Active,Orphanet,ORPHA:216812,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 3,"[OI type 3, Progressive deforming osteogenesis imperfecta, Severe osteogenesis imperfecta]","A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.","[613982, 614856, 613848, 259440, 616229, 610915, 615220, 610968, 259420, 610682]",,,,,Osteogenesis imperfecta type III,TRUE,FALSE,Active +GARD:8696,Active,Orphanet,ORPHA:216820,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 4,[OI type 4],"A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.","[613982, 259440, 166220, 615220, 610968, 616507, 613849, 615066, 610682]",,,,,Osteogenesis imperfecta type IV,TRUE,FALSE,Active +GARD:8697,Legacy,GARD,,,,,,,,,,,,Osteogenesis imperfecta type 1A,TRUE,FALSE,Retired +GARD:8698,Active,Orphanet,ORPHA:53697,Disorder,[Malformation syndrome],Gnathodiaphyseal dysplasia,[GDD],"Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.",[166260],,,,,Gnathodiaphyseal dysplasia,TRUE,FALSE,Active +GARD:8699,Active,Orphanet,ORPHA:216828,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 5,[OI type 5],"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.",[610967],,,,,Osteogenesis imperfecta type V,TRUE,FALSE,Active +GARD:87,Active,Orphanet,ORPHA:568,Disorder,[Malformation syndrome],"Microphthalmia, Lenz type",[Lenz microphthalmia],"A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.","[300166, 309800]",,,,,Lenz microphthalmia syndrome,TRUE,FALSE,Active +GARD:870,Legacy,GARD,,,,,,,,,,,,Beta-sarcoglycanopathy,TRUE,FALSE,Active +GARD:8700,Active,Orphanet+OMIM,OMIM:613982,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type vi",,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder ({3:Glorieux et al., 2002}; {1:Becker et al., 2011}).",[613982],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,Osteogenesis imperfecta type VI,TRUE,FALSE,Active +GARD:8701,Active,Orphanet+OMIM,OMIM:610682,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type vii","[Oi, type vii, osteogenesis imperfecta, type iib, formerly]","Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by {2:Barnes et al., 2006}).",[610682],"[216820, 216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[10142, 8695, 8696]",,Osteogenesis imperfecta type VII,TRUE,FALSE,Active +GARD:8702,Active,Orphanet,ORPHA:2134,Disorder,[Disease],Atypical hemolytic uremic syndrome,"[Atypical HUS, aHUS]","A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.","[235400, 615008, 612922, 612926, 612923, 612924, 609814, 612925]",,,,,Atypical hemolytic uremic syndrome,TRUE,FALSE,Active +GARD:8703,Active,Orphanet,ORPHA:140989,Disorder,[Disease],Primary angiitis of the central nervous system,"[Isolated angiitis of the central nervous system, PACNS, PCNSV, Primary central nervous system vasculitis, Primary vasculitis of the central nervous system]","A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.",,,,,,Primary angiitis of the central nervous system,TRUE,FALSE,Active +GARD:8704,Legacy,GARD,,,,,,,,,,,,Benign angiitis of the central nervous system,TRUE,FALSE,Active +GARD:8705,Legacy,GARD,,,,,,,,,,,,Klinefelter syndrome,FALSE,FALSE,Active +GARD:8706,Legacy,GARD,,,,,,,,,,,,Stewart Treves syndrome,TRUE,FALSE,Active +GARD:8707,Active,Orphanet,ORPHA:93322,Disorder,[Morphological anomaly],Tibial hemimelia,"[Congenital absence of tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia, Tibial longitudinal meromelia]",A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.,[275220],,,,,Absence of Tibia,TRUE,FALSE,Active +GARD:8708,Legacy,GARD,,,,,,,,,,,,Amyloid neuropathy,TRUE,FALSE,Active +GARD:8709,Active,Orphanet,ORPHA:86789,Disorder,[Morphological anomaly],Patella aplasia/hypoplasia,[PTLAH],Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.,[168860],,,,,Absent patella,TRUE,FALSE,Active +GARD:871,Active,Orphanet,ORPHA:848,Disorder,[Disease],Beta-thalassemia,,Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).,"[613985, 603902]",,,,,Beta-thalassemia,TRUE,FALSE,Active +GARD:8710,Legacy,GARD,,,,,,,,,,,,Passos-Bueno syndrome,TRUE,FALSE,Retired +GARD:8711,Active,Orphanet,ORPHA:268129,Disorder,[Disease],Spheroid body myopathy,,"Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.",[182920],,,,,Spheroid body myopathy,TRUE,FALSE,Active +GARD:8712,Legacy,GARD,,,,,,,,,,,,Hemoglobinemia,TRUE,FALSE,Retired +GARD:8713,Active,Orphanet,ORPHA:93296,Subtype of disorder,[Clinical subtype],Achondrogenesis type 2,"[Achondrogenesis, Langer-Saldino type]","A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.",[200610],,,,,Achondrogenesis type 2,TRUE,FALSE,Active +GARD:8717,Active,Orphanet,ORPHA:166272,Disorder,[Malformation syndrome],Odontochondrodysplasia,"[Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome, Goldblatt chondrodysplasia, Goldblatt syndrome, ODCD]","A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.",[184260],,,,,Spondylometaphyseal dysplasia with dentinogenesis imperfecta,TRUE,FALSE,Active +GARD:8719,Active,Orphanet,ORPHA:168552,Disorder,[Disease],Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,,"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.",[607543],,,,,Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism,TRUE,FALSE,Active +GARD:872,Active,Orphanet,ORPHA:134,Disorder,[Disease],Beta-ketothiolase deficiency,"[3-ketothiolase deficiency, 3-oxothiolase deficiency, Alpha methylacetoacetic aciduria, Alpha-methyl-acetoacetyl-CoA thiolase deficiency, Mitochondrial acetoacetyl-coenzyme A thiolase deficiency, T2 deficiency]","A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.",[203750],,,,,Beta ketothiolase deficiency,TRUE,FALSE,Active +GARD:8720,Active,Orphanet,ORPHA:168549,Disorder,[Disease],Axial spondylometaphyseal dysplasia,,"Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.",[602271],,,,,Axial spondylometaphyseal dysplasia,TRUE,FALSE,Active +GARD:8721,Active,Orphanet,ORPHA:98809,Disorder,[Disease],Paroxysmal kinesigenic dyskinesia,"[Familial PKD, Familial paroxysmal kinesigenic dyskinesia, Paroxysmal kinesigenic choreathetosis]","Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.","[611031, 128200]",,,,,Paroxysmal kinesigenic choreoathetosis,TRUE,FALSE,Active +GARD:8722,Active,Orphanet,ORPHA:98810,Disorder,[Disease],Paroxysmal non-kinesigenic dyskinesia,[Paroxystic non-kinesigenic choreoathetosis],"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.","[611147, 118800]",,,,,Paroxysomal nonkinesigenic dyskinesia,TRUE,FALSE,Active +GARD:8723,Active,Orphanet,ORPHA:86841,Disorder,[Disease],Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,[5q- syndrome],"A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.",[153550],,,,,5q- syndrome,TRUE,FALSE,Active +GARD:8724,Legacy,GARD,,,,,,,,,,,,"Torticollis, familial",TRUE,FALSE,Retired +GARD:8729,Legacy,GARD,,,,,,,,,,,,Neurosyphilis,TRUE,FALSE,Active +GARD:873,Active,Orphanet,ORPHA:610,Disorder,[Disease],Bethlem myopathy,[Benign autosomal dominant myopathy],Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.,"[616471, 158810]",,,,,Bethlem myopathy,TRUE,FALSE,Active +GARD:8730,Legacy,GARD,,,,,,,,,,,,Syphilitic myelopathy,TRUE,FALSE,Active +GARD:8731,Legacy,GARD,,,,,,,,,,,,Syphilitic aseptic meningitis,TRUE,FALSE,Active +GARD:8732,Active,Orphanet,ORPHA:98879,Disorder,[Disease],Hemophilia B,"[Christmas disease, Congenital F9 deficiency, Congenital factor IX deficiency]",A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.,[306900],,,,,Hemophilia B,TRUE,FALSE,Active +GARD:8735,Active,Orphanet,ORPHA:247667,Subtype of disorder,[Clinical subtype],Childhood-onset hypophosphatasia,"[Childhood-onset Rathbun disease, Childhood-onset phosphoethanolaminuria]","A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.",[241510],,,,,Childhood hypophosphatasia,TRUE,FALSE,Active +GARD:8737,Active,Orphanet,ORPHA:33208,Disorder,[Disease],Idiopathic hypersomnia,[Idiopathic excessive sleepiness],"A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.",,,,,,Idiopathic hypersomnia,TRUE,FALSE,Active +GARD:8740,Legacy,GARD,,,,,,,,,,,,"Pulmonary artery, unilateral absence of (UAPA)",FALSE,FALSE,Retired +GARD:8741,Legacy,GARD,,,,,,,,,,,,Unilateral absence of a pulmonary artery,TRUE,FALSE,Active +GARD:8742,Legacy,GARD,,,,,,,,,,,,Limbic encephalitis,TRUE,FALSE,Active +GARD:8743,Active,Orphanet+OMIM,OMIM:603194,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 2","[Meckel-gruber syndrome, type 2]","Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 ({249000}).",[603194],[564],[Meckel syndrome],[3436],,Meckel syndrome type 2,TRUE,FALSE,Active +GARD:8744,Active,Orphanet+OMIM,OMIM:607361,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 3","[Meckel-gruber syndrome, type 3]","Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {7:Smith et al., 2006}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[607361],[564],[Meckel syndrome],[3436],,Meckel syndrome type 3,TRUE,FALSE,Active +GARD:8745,Legacy,GARD,,,,,,,,,,,,Marinesco-Sjogren-like syndrome (MSLS),TRUE,FALSE,Active +GARD:8746,Legacy,GARD,,,,,,,,,,,,"Sjogren's syndrome, juvenile, secondary to autoimmune disease",TRUE,FALSE,Active +GARD:8748,Legacy,GARD,,,,,,,,,,,,"Camurati Engelmann disease, type 2",TRUE,FALSE,Active +GARD:8749,Legacy,GARD,,,,,,,,,,,,Central pontine myelinolysis,FALSE,FALSE,Active +GARD:875,Legacy,GARD,,,,,,,,,,,,Bhaskar Jagannathan syndrome,TRUE,FALSE,Retired +GARD:8750,Legacy,GARD,,,,,,,,,,,,"Coxa vara, congenital",TRUE,FALSE,Active +GARD:8754,Active,Orphanet,ORPHA:1426,Disorder,[Disease],Greenberg dysplasia,"[HEM dysplasia, Hydrops-ectopic calcification-motheaten syndrome, Skeletal dysplasia, Greenberg type]","Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.",[215140],,,,,Greenberg dysplasia,TRUE,FALSE,Active +GARD:8755,Active,Orphanet,ORPHA:1135,Disorder,[Malformation syndrome],Arrhinia-choanal atresia-microphthalmia syndrome,,"A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.",[603457],,,,,Arhinia choanal atresia microphthalmia,TRUE,FALSE,Active +GARD:8756,Active,Orphanet,ORPHA:1187,Disorder,[Disease],Lethal ataxia with deafness and optic atrophy,"[Arts syndrome, Lethal ataxia with hearing loss and optic atrophy]","Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.",[301835],,,,,Arts syndrome,TRUE,FALSE,Active +GARD:8757,Active,Orphanet,ORPHA:64742,Disorder,[Disease],Pleuropulmonary blastoma,,"A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax.",[601200],,,,,Pleuropulmonary blastoma,TRUE,FALSE,Active +GARD:8759,Active,Orphanet,ORPHA:99922,Disorder,[Disease],Ocular cicatricial pemphigoid,,"A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.",,,,,,Ocular cicatricial pemphigoid,TRUE,FALSE,Active +GARD:8761,Legacy,GARD,,,,,,,,,,,,Keshan disease,TRUE,FALSE,Active +GARD:878,Legacy,GARD,,,,,,,,,,,,Bidirectional tachycardia,TRUE,FALSE,Active +GARD:88,Active,Orphanet,ORPHA:2900,Disorder,[Malformation syndrome],Leri pleonosteosis,,"Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.",[151200],,,,,Leri pleonosteosis,TRUE,FALSE,Active +GARD:881,Legacy,GARD,,,,,,,,,,,,Biemond syndrome type 1,TRUE,FALSE,Active +GARD:882,Active,Orphanet,ORPHA:141333,Disorder,[Disease],Biemond syndrome type 2,[Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome],"Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.",[210350],,,,,Biemond syndrome 2,TRUE,FALSE,Active +GARD:883,Legacy,GARD,,,,,,,,,,,,Biermer disease,TRUE,FALSE,Draft +GARD:884,Active,Orphanet,ORPHA:2695,Disorder,[Malformation syndrome],Bifid nose,,Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.,"[210400, 109740]",,,,,Bifid nose,TRUE,FALSE,Active +GARD:885,Legacy,GARD,,,,,,,,,,,,Bilateral renal agenesis dominant type,TRUE,FALSE,Active +GARD:886,Legacy,GARD,,,,,,,,,,,,Biliary atresia extrahepatic,TRUE,FALSE,Retired +GARD:887,Legacy,GARD,,,,,,,,,,,,Biliary atresia intrahepatic non syndromic form,TRUE,FALSE,Active +GARD:888,Legacy,GARD,,,,,,,,,,,,Biliary atresia intrahepatic syndromic form,TRUE,FALSE,Active +GARD:89,Legacy,GARD,,,,,,,,,,,,Gastric Non-Hodgkin Lymphoma,TRUE,FALSE,Active +GARD:892,Legacy,GARD,,,,,,,,,,,,Billet Bear syndrome,TRUE,FALSE,Active +GARD:893,Active,Orphanet,ORPHA:3304,Disorder,[Malformation syndrome],Fallot complex-intellectual disability-growth delay syndrome,[Bindewald-Ulmer-Müller syndrome],"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.",[601127],,,,,Fallot complex with severe mental and growth retardation,TRUE,FALSE,Active +GARD:894,Active,Orphanet,ORPHA:79241,Disorder,[Disease],Biotinidase deficiency,"[Juvenile-onset multiple carboxylase deficiency, Late-onset multiple carboxylase deficiency]","A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.",[253260],,,,,Biotinidase deficiency,TRUE,FALSE,Active +GARD:895,Active,Orphanet,ORPHA:2617,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Montreal type","[Bird-headed dwarfism, Montreal type]","A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.",[210700],,,,,"Microcephalic primordial dwarfism, Montreal type",TRUE,FALSE,Active +GARD:897,Active,Orphanet,ORPHA:2213,Disorder,[Malformation syndrome],Hypertelorism-microtia-facial clefting syndrome,"[Bixler-Christian-Gorlin syndrome, HMC syndrome]","Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.",[239800],,,,,Bixler Christian Gorlin syndrome,TRUE,FALSE,Active +GARD:898,Legacy,GARD,,,,,,,,,,,,Blaichman syndrome,TRUE,FALSE,Retired +GARD:901,Legacy,GARD,,,,,,,,,,,,Blepharofacioskeletal syndrome,TRUE,FALSE,Retired +GARD:902,Legacy,GARD,,,,,,,,,,,,Blepharo naso facial syndrome Van maldergem type,TRUE,FALSE,Active +GARD:905,Active,Orphanet,ORPHA:2057,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,[Frydman-Cohen-Karmon syndrome],"A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.",[210745],,,,,"Blepharophimosis with ptosis, syndactyly, and short stature",TRUE,FALSE,Active +GARD:91,Legacy,GARD,,,,,,,,,,,,"Malignant melanoma, childhood",TRUE,FALSE,Active +GARD:9118,Active,Orphanet,ORPHA:3337,Disorder,[Disease],Primary Fanconi renotubular syndrome,"[DeToni-Debré-Fanconi syndrome, Primary Fanconi renal syndrome]","A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.","[618913, 134600, 615605, 613388]",,,,,Fanconi syndrome,TRUE,FALSE,Active +GARD:9119,Active,Orphanet,ORPHA:984,Disorder,[Morphological anomaly],Pulmonary agenesis,,"A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.",,,,,,Lung agenesis,TRUE,FALSE,Active +GARD:912,Active,Orphanet,ORPHA:1259,Disorder,[Disease],Blepharoptosis-myopia-ectopia lentis syndrome,,"A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.",[110150],,,,,Blepharoptosis myopia ectopia lentis,TRUE,FALSE,Active +GARD:9120,Legacy,GARD,,,,,,,,,,,,Fanconis syndrome,TRUE,FALSE,Retired +GARD:9124,Active,Orphanet,ORPHA:861,Disorder,[Malformation syndrome],Treacher-Collins syndrome,"[Franceschetti-Klein syndrome, Mandibulofacial dysostosis without limb anomalies]","A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.","[613717, 154500, 248390, 618939]",,,,,Treacher Collins syndrome,TRUE,FALSE,Active +GARD:9125,Active,Orphanet+OMIM,OMIM:248390,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 3,"[Mandibulofacial dysostosis, treacher collins type, autosomal recessive]","Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500}).",[248390],[861],[Treacher-Collins syndrome],[9124],,Treacher Collins syndrome 3,TRUE,FALSE,Active +GARD:9126,Active,Orphanet,ORPHA:990,Disorder,[Malformation syndrome],Agnathia-holoprosencephaly-situs inversus syndrome,,"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.",[202650],,,,,Dysgnathia complex,TRUE,FALSE,Active +GARD:9128,Active,Orphanet,ORPHA:98482,Group of disorders,[Category],Idiopathic inflammatory myopathy,"[IMM, Idiopathic inflammatory myositis]",,,,,,,Idiopathic inflammatory myopathy,TRUE,FALSE,Active +GARD:9129,Legacy,GARD,,,,,,,,,,,,"Minicore myopathy, antenatal onset, with arthrogryposis",TRUE,FALSE,Active +GARD:9130,Legacy,GARD,,,,,,,,,,,,Multicore disease,TRUE,FALSE,Active +GARD:9131,Legacy,GARD,,,,,,,,,,,,Infective myositis,TRUE,FALSE,Active +GARD:9132,Legacy,GARD,,,,,,,,,,,,Adult progressive spinal muscular atrophy Aran Duchenne type,TRUE,FALSE,Active +GARD:9133,Legacy,GARD,,,,,,,,,,,,Pseudomyotonia,TRUE,FALSE,Retired +GARD:9134,Legacy,GARD,,,,,,,,,,,,Congenital myotonic dystrophy,TRUE,FALSE,Active +GARD:9135,Legacy,GARD,,,,,,,,,,,,Muscular Dystrophy - Late Onset,TRUE,FALSE,Draft +GARD:9136,Legacy,GARD,,,,,,,,,,,,Ocular Muscular Dystrophy,TRUE,FALSE,Active +GARD:9137,Legacy,GARD,,,,,,,,,,,,Ophthalmoplegic Muscular dystrophy,TRUE,FALSE,Retired +GARD:9138,Active,Orphanet,ORPHA:97242,Group of disorders,[Category],Congenital muscular dystrophy,"[CMD, MDC]","Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).",,,,,,Congenital muscular dystrophy,TRUE,FALSE,Active +GARD:9139,Legacy,GARD,,,,,,,,,,,,Progestogen hypersensitivity,TRUE,FALSE,Active +GARD:914,Active,Orphanet,ORPHA:50945,Disorder,[Malformation syndrome],Blomstrand lethal chondrodysplasia,"[BLC, BOCD, Blomstrand chondrodysplasia, Blomstrand osteochondrodysplasia, Chondrodysplasia, Blomstrand type]","Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.",[215045],,,,,Chondrodysplasia Blomstrand type,TRUE,FALSE,Active +GARD:9142,Active,Orphanet,ORPHA:2070,Disorder,[Disease],Eosinophilic gastroenteritis,"[EGE, Eosinophilic enteritis, Eosinophilic gastroenterocolitis]","A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.",,,,,,Eosinophilic gastroenteritis,TRUE,FALSE,Active +GARD:9143,Legacy,GARD,,,,,,,,,,,,Retinoschisis of Fovea,TRUE,FALSE,Active +GARD:9144,Legacy,GARD,,,,,,,,,,,,Retinoschisis autosomal dominant,TRUE,FALSE,Active +GARD:9145,Active,Orphanet,ORPHA:171871,Subtype of disorder,[Clinical subtype],Renal pseudohypoaldosteronism type 1,"[Autosomal dominant PHA1, Autosomal dominant pseudohypoaldosteronism type 1, Renal PHA1]","A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.",[177735],,,,,Autosomal dominant pseudohypoaldosteronism type 1,TRUE,FALSE,Active +GARD:9146,Active,Orphanet,ORPHA:1340,Disorder,[Malformation syndrome],Cardiofaciocutaneous syndrome,[CFC syndrome],"A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.","[615280, 615278, 615279, 115150]",,,,,Cardiofaciocutaneous syndrome,TRUE,FALSE,Active +GARD:9147,Legacy,GARD,,,,,,,,,,,,Minimal change disease,TRUE,FALSE,Active +GARD:9148,Legacy,GARD,,,,,,,,,,,,Pelger-Huet anomaly,TRUE,FALSE,Active +GARD:9149,Active,Orphanet+OMIM,OMIM:180100,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 1,,,[180100],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 1,TRUE,FALSE,Active +GARD:915,Active,Orphanet,ORPHA:125,Disorder,[Disease],Bloom syndrome,[BSyn],"Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.",[210900],,,,,Bloom syndrome,TRUE,FALSE,Active +GARD:9151,Active,Orphanet+OMIM,OMIM:210210,Subtype of disorder,[Disease subtype],3-methylcrotonyl-coa carboxylase 2 deficiency,"[3-methylcrotonylglycinuria ii, Mcc2 deficiency, methylcrotonylglycinuria, type ii]",,[210210],[6],[3-methylcrotonyl-CoA carboxylase deficiency],[10954],,3 alpha methylcrotonyl-CoA carboxylase 2 deficiency,TRUE,FALSE,Retired +GARD:9152,Active,Orphanet,ORPHA:90791,Disorder,[Disease],Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,[CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency],"A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.",[201810],,,,,3-beta-hydroxysteroid dehydrogenase deficiency,TRUE,FALSE,Active +GARD:9154,Legacy,GARD,,,,,,,,,,,,Acetyl CoA acetyltransferase 2 deficiency,TRUE,FALSE,Active +GARD:9155,Legacy,GARD,,,,,,,,,,,,"Mental retardation X-linked, South African type",TRUE,FALSE,Retired +GARD:9156,Active,Orphanet,ORPHA:85274,Disorder,[Malformation syndrome],Syndromic X-linked intellectual disability 7,"[MRXS7, X-linked intellectual disability, Ahmad type]","A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.",[300218],,,,,Syndromic X-linked intellectual disability 7,TRUE,FALSE,Active +GARD:9157,Active,Orphanet,ORPHA:85273,Disorder,[Malformation syndrome],"X-linked intellectual disability, Abidi type",,"X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.",[300262],,,,,"X-linked intellectual disability, Abidi type",TRUE,FALSE,Active +GARD:9158,Active,Orphanet,ORPHA:53347,Disorder,[Disease],Brody myopathy,,"A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.",[601003],,,,,Brody myopathy,TRUE,FALSE,Active +GARD:9159,Active,Orphanet+OMIM,OMIM:300018,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 2","[dosage-sensitive sex reversal, 46,xy sex reversal, dax1-related]",,[300018],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,Dosage-sensitive sex reversal,TRUE,FALSE,Active +GARD:916,Active,Orphanet,ORPHA:2768,Disorder,[Malformation syndrome],Blount disease,"[Infantile tibia vara, Osteochondrosis deformans tibiae, Tibia vara Blount]","Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.","[259200, 188700]",,,,,Blount disease,TRUE,FALSE,Active +GARD:9161,Active,Orphanet,ORPHA:79280,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 2,"[Adult-onset Alpha-N-acetylgalactosaminidase deficiency, Kanzaki disease, NAGA deficiency type 2, Schindler disease type 2]",A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.,[609242],,,,,Kanzaki disease,TRUE,FALSE,Active +GARD:9162,Legacy,GARD,,,,,,,,,,,,Fallopian tube cancer,TRUE,FALSE,Active +GARD:9163,Active,Orphanet,ORPHA:353298,Disorder,[Disease],Roifman syndrome,[Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome],"A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.",[616651],,,,,Roifman syndrome,TRUE,FALSE,Active +GARD:9164,Active,Orphanet,ORPHA:97238,Disorder,[Disease],Rippling muscle disease,,"Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.","[606072, 600332]",,,,,Rippling muscle disease,TRUE,FALSE,Active +GARD:9165,Active,Orphanet+OMIM,OMIM:600332,Subtype of disorder,[Disease subtype],Rippling muscle disease 1,,"For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 ({606072}).",[600332],[97238],[Rippling muscle disease],[9164],,"Rippling muscle disease, 1",TRUE,FALSE,Active +GARD:9166,Active,Orphanet+OMIM,OMIM:606282,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 24",,,[606282],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 24",TRUE,FALSE,Active +GARD:9167,Active,Orphanet+OMIM,OMIM:606346,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 22",,,[606346],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 22",TRUE,FALSE,Active +GARD:9168,Active,Orphanet,ORPHA:85195,Disorder,[Disease],Familial expansile osteolysis,"[Hereditary expansile polyostotic osteolytic dysplasia, McCabe disease]","A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.",[174810],,,,,"Polyostotic osteolytic dysplasia, hereditary expansile",TRUE,FALSE,Active +GARD:9169,Active,Orphanet,ORPHA:97346,Subtype of disorder,[Clinical subtype],ADan amyloidosis,"[Familial dementia, Danish type]","A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.",[117300],,,,,"Dementia, familial Danish",TRUE,FALSE,Active +GARD:917,Active,Orphanet,ORPHA:16,Disorder,[Disease],Blue cone monochromatism,"[Atypical X-linked achromatopsia, Blue cone monochromacy, Color blindness, blue monocone monochromatic type, S cone monochromacy, S cone monochromatism, X-linked incomplete achromatopsia]","Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).",[303700],,,,,Blue cone monochromatism,TRUE,FALSE,Active +GARD:9170,Active,Orphanet,ORPHA:55654,Disorder,[Disease],Hypotrichosis simplex,[Hereditary hypotrichosis simplex],"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.","[278150, 615059, 607903, 604379, 614237, 615885, 614238, 605389, 618275]",,,,,Hypotrichosis simplex,TRUE,FALSE,Active +GARD:9171,Legacy,GARD,,,,,,,,,,,,Iris hypoplasia and glaucoma,TRUE,FALSE,Active +GARD:9172,Active,Orphanet+OMIM,OMIM:148700,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma i, striate, focal, or diffuse","[Keratosis palmoplantaris striata i, striate palmoplantar keratoderma i, keratoderma, palmoplantar, striate form i]","Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by {6:Hunt et al., 2001}). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported ({7:Keren et al., 2005}; {8:Milingou et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Keratosis Palmoplantaris Striata\n\nType II PPKS (PPKS2; {612908}) is caused by mutation in the DSP gene ({125647}) on chromosome 6.\n\nType III PPKS (PPKS3; {607654}) is caused by mutation in the keratin-1 gene (KRT1; {139350}) on chromosome 12q.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).\n\n{9:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.",[148700],[50942],[Striate palmoplantar keratoderma],[15016],,Keratosis palmoplantaris striata 1,TRUE,FALSE,Active +GARD:9173,Active,Orphanet+OMIM,OMIM:607654,Subtype of disorder,[Disease subtype],Keratosis palmoplantaris striata iii,"[Striate palmoplantar keratoderma iii, keratoderma, palmoplantar, striate form iii]",,[607654],[50942],[Striate palmoplantar keratoderma],[15016],,Keratosis palmoplantaris striata 3,TRUE,FALSE,Active +GARD:9174,Active,Orphanet,ORPHA:306674,Disorder,[Disease],Kufor-Rakeb syndrome,[PARK9],"Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.",[606693],,,,,Parkinson disease type 9,TRUE,FALSE,Active +GARD:9175,Active,Orphanet,ORPHA:171695,Disorder,[Disease],Parkinsonian-pyramidal syndrome,[Pallidopyramidal syndrome],"Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).","[260300, 168100, 168601]",,,,,Pallidopyramidal syndrome,TRUE,FALSE,Active +GARD:9176,Active,Orphanet,ORPHA:69126,Disorder,[Disease],Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,"[FRA, Familial recurrent arthritis, PAPA syndrome]","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.",[604416],,,,,"Pyogenic arthritis, pyoderma gangrenosum and acne",TRUE,FALSE,Active +GARD:9177,Active,Orphanet,ORPHA:137776,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 2,"[LCCS2, Multiple contracture syndrome, Israeli-Bedouin type]","Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.",[607598],,,,,Lethal congenital contracture syndrome 2,TRUE,FALSE,Active +GARD:9178,Active,Orphanet,ORPHA:85282,Disorder,[Malformation syndrome],MEHMO syndrome,[X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome],"A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.",[300148],,,,,MEHMO syndrome,TRUE,FALSE,Active +GARD:9179,Active,Orphanet,ORPHA:75327,Disorder,[Disease],North Carolina macular dystrophy,"[CAPE dystrophy, CAPED, Central areolar pigment epithelial dystrophy, Central retinal pigment epithelial dystrophy, MCDR1, NCMD, North Carolina macular dystrophy, retinal 1, Progressive foveal dystrophy]","A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.",[136550],,,,,North Carolina macular dystrophy,TRUE,FALSE,Active +GARD:918,Active,Orphanet,ORPHA:1292,Disorder,[Malformation syndrome],Brachymorphism-onychodysplasia-dysphalangism syndrome,"[BOD syndrome, Senior syndrome]","A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.",[113477],,,,,BOD syndrome,TRUE,FALSE,Active +GARD:9180,Active,Orphanet,ORPHA:97560,Disorder,[Disease],Primary membranous glomerulonephritis,"[Idiopathic membranous glomerulonephritis, Primary membranous nephropathy]","A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome.",[614692],,,,,Membranous nephropathy,TRUE,FALSE,Active +GARD:9181,Active,Orphanet,ORPHA:86,Disorder,[Disease],Familial abdominal aortic aneurysm,,,"[611891, 100070, 614375, 609782]",,,,,Abdominal aortic aneurysm,TRUE,FALSE,Active +GARD:9182,Active,Orphanet,ORPHA:93293,Disorder,[Malformation syndrome],Okihiro syndrome,[Duane-radial ray syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.",[607323],,,,,Duane-radial ray syndrome,TRUE,FALSE,Active +GARD:9184,Active,Orphanet,ORPHA:1159,Disorder,[Disease],Progressive pseudorheumatoid arthropathy of childhood,[Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome],Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.,[208230],,,,,Progressive pseudorheumatoid dysplasia,TRUE,FALSE,Active +GARD:9185,Active,Orphanet,ORPHA:99898,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,"[MSMD due to complete IFNgammaR1 deficiency, MSMD due to complete interferon gamma receptor 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency]","Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[209950],,,,,"Atypical mycobacteriosis, familial",TRUE,FALSE,Active +GARD:9188,Legacy,GARD,,,,,,,,,,,,HAIR-AN syndrome,FALSE,FALSE,Active +GARD:9189,Active,Orphanet,ORPHA:101084,Disorder,[Disease],Charcot-Marie-Tooth disease type 1D,[CMT1D],"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.",[607678],,,,,Charcot-Marie-Tooth disease type 1D,TRUE,FALSE,Active +GARD:9190,Active,Orphanet,ORPHA:90658,Disorder,[Disease],Charcot-Marie-Tooth disease type 1E,"[CMT1E, Charcot-Marie-Tooth disease-deafness syndrome, Charcot-Marie-Tooth disease-hearing loss syndrome]","A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.",[118300],,,,,Charcot-Marie-Tooth disease type 1E,TRUE,FALSE,Active +GARD:9191,Active,Orphanet,ORPHA:101085,Disorder,[Disease],Charcot-Marie-Tooth disease type 1F,[CMT1F],"Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).",[607734],,,,,Charcot-Marie-Tooth disease type 1F,TRUE,FALSE,Active +GARD:9192,Active,Orphanet,ORPHA:99936,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2B,[CMT2B],"A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.",[600882],,,,,Charcot-Marie-Tooth disease type 2B,TRUE,FALSE,Active +GARD:9193,Active,Orphanet,ORPHA:99939,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2E,[CMT2E],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.",[607684],,,,,Charcot-Marie-Tooth disease type 2E,TRUE,FALSE,Active +GARD:9194,Active,Orphanet,ORPHA:99940,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2F,[CMT2F],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.",[606595],,,,,Charcot-Marie-Tooth disease type 2F,TRUE,FALSE,Active +GARD:9195,Active,Orphanet,ORPHA:99941,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2G,[CMT2G],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.",,,,,,Charcot-Marie-Tooth disease type 2G,TRUE,FALSE,Active +GARD:9196,Active,Orphanet,ORPHA:101102,Disorder,[Disease],Charcot-Marie-Tooth disease type 2H,"[AR-CMT2C, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, CMT2H]","Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.",[607731],,,,,Charcot-Marie-Tooth disease type 2H,TRUE,FALSE,Active +GARD:9197,Active,Orphanet,ORPHA:99942,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2I,[CMT2I],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.",[607677],,,,,Charcot-Marie-Tooth disease type 2I,TRUE,FALSE,Active +GARD:9198,Active,Orphanet,ORPHA:99943,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2J,[CMT2J],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.",[607736],,,,,Charcot-Marie-Tooth disease type 2J,TRUE,FALSE,Active +GARD:9199,Active,Orphanet,ORPHA:99944,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2K,[CMT2K],An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.,[607831],,,,,Charcot-Marie-Tooth disease type 2K,TRUE,FALSE,Active +GARD:92,Active,Orphanet,ORPHA:87503,Disorder,[Disease],Mal de Meleda,"[Keratosis palmoplantaris transgrediens of Siemens, Meleda disease, Transgrediens palmoplantar keratoderma of Siemens]","Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.",[248300],,,,,Meleda disease,TRUE,FALSE,Active +GARD:920,Legacy,GARD,,,,,,,,,,,,Bone dysplasia Azouz type,TRUE,FALSE,Active +GARD:9200,Active,Orphanet,ORPHA:99956,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B2,[CMT4B2],"Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.",[604563],,,,,Charcot-Marie-Tooth disease type 4B2,TRUE,FALSE,Active +GARD:9201,Active,Orphanet,ORPHA:99949,Disorder,[Disease],Charcot-Marie-Tooth disease type 4C,[CMT4C],"Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.",[601596],,,,,Charcot-Marie-Tooth disease type 4C,TRUE,FALSE,Active +GARD:9203,Active,Orphanet,ORPHA:99951,Disorder,[Disease],Charcot-Marie-Tooth disease type 4E,"[Autosomal recessive congenital hypomyelinating neuropathy, CMT4E]","Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.",[605253],,,,,Charcot-Marie-Tooth disease type 4E,TRUE,FALSE,Active +GARD:9204,Active,Orphanet,ORPHA:64748,Disorder,[Disease],Dejerine-Sottas syndrome,"[Charcot-Marie-Tooth disease type 3, HMSN 3, HMSN III, Hereditary motor and sensory neuropathy type 3, Hereditary motor and sensory neuropathy type III]","A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.","[618184, 145900]",,,,,Hypertrophic neuropathy of Dejerine-Sottas,TRUE,FALSE,Active +GARD:9205,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma,TRUE,FALSE,Retired +GARD:9206,Active,Orphanet,ORPHA:352670,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,[CMTDIF],"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.",[615185],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,TRUE,FALSE,Active +GARD:9207,Active,Orphanet,ORPHA:100046,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,[CMTDID],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.",[607791],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,TRUE,FALSE,Active +GARD:9208,Active,Orphanet,ORPHA:64751,Disorder,[Disease],Hereditary motor and sensory neuropathy type 5,"[Charcot-Marie-Tooth disease-pyramidal features syndrome, HMSN 5, HMSN V, Hereditary motor and sensory neuropathy type V]","Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.",[600361],,,,,Hereditary motor and sensory neuropathy type 5,TRUE,FALSE,Active +GARD:921,Legacy,GARD,,,,,,,,,,,,Bone dysplasia corpus callosum agenesis,TRUE,FALSE,Active +GARD:9210,Active,Orphanet,ORPHA:49827,Disorder,[Disease],Thiamine-responsive megaloblastic anemia syndrome,"[Rogers syndrome, TRMA, Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss]","Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.",[249270],,,,,Thiamine responsive megaloblastic anemia syndrome,TRUE,FALSE,Active +GARD:9211,Legacy,GARD,,,,,,,,,,,,Aglossia and Situs Inversus,TRUE,FALSE,Active +GARD:9212,Active,Orphanet,ORPHA:2879,Disorder,[Malformation syndrome],"Phocomelia, Schinzel type","[Al Awadi-Raas-Rothschild syndrome, Aplasia/hypoplasia of limbs and pelvis, Congenital absence of ulna and fibula, Severe limb deficit]","Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.",[276820],,,,,Schinzel type phocomelia,TRUE,FALSE,Active +GARD:9213,Legacy,GARD,,,,,,,,,,,,Alsing syndrome,TRUE,FALSE,Active +GARD:9216,Legacy,GARD,,,,,,,,,,,,Baetz-Greenwalt syndrome,TRUE,FALSE,Active +GARD:9217,Active,Orphanet,ORPHA:86914,Disorder,[Malformation syndrome],Lymphedema-cerebral arteriovenous anomaly syndrome,,"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.",[152900],,,,,Lymphedema and cerebral arteriovenous anomaly,TRUE,FALSE,Active +GARD:9218,Legacy,GARD,,,,,,,,,,,,Auralcephalosyndactyly,TRUE,FALSE,Active +GARD:9219,Legacy,GARD,,,,,,,,,,,,Atlanto-Axial Fusion,TRUE,FALSE,Active +GARD:922,Active,Orphanet,ORPHA:1842,Disorder,[Malformation syndrome],"Bone dysplasia, lethal Holmgren type","[Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type]","A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.",[211120],,,,,Bone dysplasia lethal Holmgren type,TRUE,FALSE,Active +GARD:9220,Legacy,GARD,,,,,,,,,,,,Astley-Kendall syndrome,TRUE,FALSE,Active +GARD:9221,Legacy,GARD,,,,,,,,,,,,Asternia,TRUE,FALSE,Active +GARD:9222,Legacy,GARD,,,,,,,,,,,,"Asternia with Cardiac, Diaphragmatic, and Abdominal defects",TRUE,FALSE,Retired +GARD:9223,Legacy,GARD,,,,,,,,,,,,Arena syndrome,TRUE,FALSE,Active +GARD:9225,Active,Orphanet,ORPHA:1412,Disorder,[Malformation syndrome],Tarsal-carpal coalition syndrome,,"Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.","[186570, 186400]",,,,,Tarsal carpal coalition syndrome,TRUE,FALSE,Active +GARD:9226,Legacy,GARD,,,,,,,,,,,,Abdominal obesity metabolic syndrome,TRUE,FALSE,Active +GARD:9227,Legacy,GARD,,,,,,,,,,,,"Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery",TRUE,FALSE,Active +GARD:9228,Active,Orphanet,ORPHA:411709,Disorder,[Morphological anomaly],Renal agenesis,,"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","[191830, 615721]",,,,,Renal agenesis,TRUE,FALSE,Active +GARD:9229,Legacy,GARD,,,,,,,,,,,,Bile duct cysts,TRUE,FALSE,Active +GARD:923,Legacy,GARD,,,,,,,,,,,,Bone dysplasia Moore type,TRUE,FALSE,Active +GARD:9230,Legacy,GARD,,,,,,,,,,,,Chiari malformation type 1,FALSE,FALSE,Active +GARD:9232,Active,Orphanet,ORPHA:1136,Disorder,[Morphological anomaly],Arnold-Chiari malformation type II,"[Arnold-Chiari malformation type 2, Chiari malformation type 2, Chiari malformation type II]","A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.",[207950],,,,,Chiari malformation type 2,TRUE,FALSE,Active +GARD:9233,Active,Orphanet,ORPHA:268882,Disorder,[Morphological anomaly],Arnold-Chiari malformation type I,"[Arnold-Chiari malformation type 1, Chiari malformation type 1, Chiari malformation type I]","A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.",[118420],,,,,Chiari malformation type 3,TRUE,FALSE,Active +GARD:9234,Legacy,GARD,,,,,,,,,,,,Chiari malformation type 4,TRUE,FALSE,Active +GARD:9236,Legacy,GARD,,,,,,,,,,,,Disseminated infection with mycobacterium avium complex,TRUE,FALSE,Active +GARD:9237,Active,Orphanet,ORPHA:140896,Disorder,[Disease],Severe acute respiratory syndrome,"[SARS, SARS-1]","A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).",,,,,,SARS,TRUE,FALSE,Active +GARD:9238,Legacy,GARD,,,,,,,,,,,,West Nile virus infection,TRUE,FALSE,Active +GARD:9239,Active,Orphanet,ORPHA:90020,Disorder,[Disease],Parkinson-dementia complex of Guam,"[G-PDC, Guam disease, Guam parkinsonism-dementia complex, Lytico-Bodig disease]","A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.",[105500],,,,,Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,TRUE,FALSE,Active +GARD:9240,Legacy,GARD,,,,,,,,,,,,Childhood acute lymphoblastic leukemia,TRUE,FALSE,Active +GARD:9242,Active,Orphanet,ORPHA:164736,Disorder,[Disease],Familial advanced sleep-phase syndrome,[FASPS],A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.,"[615224, 616882, 604348]",,,,,"Advanced sleep phase syndrome, familial",TRUE,FALSE,Active +GARD:9243,Legacy,GARD,,,,,,,,,,,,Bilirubin induced brain injury in the newborn,TRUE,FALSE,Retired +GARD:9244,Legacy,GARD,,,,,,,,,,,,Cervical intraepithelial neoplasia,TRUE,FALSE,Active +GARD:9246,Legacy,GARD,,,,,,,,,,,,Collagenopathy type 2 alpha 1,TRUE,FALSE,Active +GARD:9247,Active,Orphanet,ORPHA:48686,Disorder,[Disease],Primary effusion lymphoma,"[Body cavity-based lymphoma, PEL]","Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).",,,,,,Primary effusion lymphoma,TRUE,FALSE,Active +GARD:9249,Legacy,GARD,,,,,,,,,,,,Sinonasal undifferentiated carcinoma,TRUE,FALSE,Active +GARD:9252,Active,Orphanet,ORPHA:91500,Disorder,[Disease],Tubulointerstitial nephritis and uveitis syndrome,"[Acute tubulointerstitial nephritis and uveitis syndrome, Dobrin syndrome, TINU syndrome]",A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.,[607665],,,,,Tubulointerstitial nephritis and uveitis,TRUE,FALSE,Active +GARD:9253,Legacy,GARD,,,,,,,,,,,,Absence of septum pellucidum,TRUE,FALSE,Active +GARD:9255,Active,Orphanet,ORPHA:1934,Disorder,[Clinical syndrome],Early infantile epileptic encephalopathy,"[EIEE, Early infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome]","A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.","[616341, 617350, 619340, 618548, 613721, 613402, 617389, 617599, 615473, 612164, 609304, 308350, 617391, 617493, 617276, 300672]",,,,,Early Infantile Epileptic Encephalopathy,TRUE,FALSE,Active +GARD:9256,Legacy,GARD,,,,,,,,,,,,Dyssynergia cerebellaris myoclonica,TRUE,FALSE,Active +GARD:9257,Active,Orphanet,ORPHA:57145,Disorder,[Disease],SUNCT syndrome,[Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing],A rare primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).,,,,,,SUNCT headache,TRUE,FALSE,Active +GARD:9258,Active,Orphanet,ORPHA:65250,Disorder,[Disease],Perineural cyst,[Tarlov cyst],"A disorder that is characterized by the presence of cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.",,,,,,Tarlov cysts,TRUE,FALSE,Active +GARD:9259,Legacy,GARD,,,,,,,,,,,,Familial erythema nodosum,TRUE,FALSE,Active +GARD:9260,Legacy,GARD,,,,,,,,,,,,"Erythema nodosum, idiopathic",TRUE,FALSE,Active +GARD:9261,Legacy,GARD,,,,,,,,,,,,Boerhaave syndrome,TRUE,FALSE,Active +GARD:9262,Legacy,GARD,,,,,,,,,,,,Paraquat lung,TRUE,FALSE,Active +GARD:9263,Legacy,GARD,,,,,,,,,,,,Wallenberg syndrome,TRUE,FALSE,Active +GARD:9264,Legacy,GARD,,,,,,,,,,,,Superior vena cava syndrome,TRUE,FALSE,Retired +GARD:9265,Active,Orphanet,ORPHA:71277,Disorder,[Disease],Classic glucose transporter type 1 deficiency syndrome,"[Classic GLUT1 deficiency syndrome, Classic GLUT1-DS, De Vivo disease, Encephalopathy due to GLUT1 deficiency]","Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.",[606777],,,,,Glucose transporter type 1 deficiency syndrome,TRUE,FALSE,Active +GARD:9266,Active,Orphanet,ORPHA:79140,Disorder,[Disease],Cutaneous neuroendocrine carcinoma,"[MCC, Merkel cell carcinoma]","Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).",,,,,,Merkel cell carcinoma,TRUE,FALSE,Active +GARD:9267,Legacy,GARD,,,,,,,,,,,,Herrmann syndrome,TRUE,FALSE,Active +GARD:9268,Active,Orphanet+OMIM,OMIM:137950,Subtype of disorder,[Disease subtype],Glomerulopathy with fibronectin deposits 1,,"Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; {135600}) ({3:Castelletti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits\n\nThe GFND1 locus maps to chromosome 1q32. See also GFND2 ({601894}), which is caused by mutation in the FN1 gene ({135600}) on chromosome 2q35.",[137950],[84090],[Fibronectin glomerulopathy],[15019],,Glomerulopathy with fibronectin deposits 1,TRUE,FALSE,Active +GARD:9269,Legacy,GARD,,,,,,,,,,,,Androgenetic alopecia,FALSE,FALSE,Active +GARD:9270,Legacy,GARD,,,,,,,,,,,,Endolymphatic sac tumor,TRUE,FALSE,Active +GARD:9272,Legacy,GARD,,,,,,,,,,,,Cluttering,TRUE,FALSE,Active +GARD:9273,Legacy,GARD,,,,,,,,,,,,Hereditary cerebellar ataxia syndrome of early onset,TRUE,FALSE,Retired +GARD:9274,Legacy,GARD,,,,,,,,,,,,Auditory neuropathy spectrum disorder,TRUE,FALSE,Active +GARD:9275,Active,Orphanet,ORPHA:98960,Disorder,[Disease],Thiel-Behnke corneal dystrophy,"[Anterior limiting membrane dystrophy type 2, Anterior limiting membrane dystrophy type II, Corneal dystrophy of Bowman layer type 2, Corneal dystrophy of Bowman layer type II, Curly fiber corneal dystrophy, Honeycomb corneal dystrophy, TBCD, Waardenburg-Jonker corneal dystrophy]","Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.",[602082],,,,,Corneal dystrophy Thiel Behnke type,TRUE,FALSE,Active +GARD:9276,Active,Orphanet,ORPHA:98961,Disorder,[Disease],Reis-Bücklers corneal dystrophy,"[Anterior limiting membrane dystrophy type 1, Anterior limiting membrane dystrophy type I, Atypical granular corneal dystrophy, Corneal dystrophy of Bowman layer type 1, Corneal dystrophy of Bowman layer type I, Geographic corneal dystrophy, Granular corneal dystrophy type 3, Granular corneal dystrophy type III, RBCD, Superficial granular corneal dystrophy]","Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.",[608470],,,,,Corneal dystrophy of Bowman layer type 1,TRUE,FALSE,Active +GARD:9277,Active,Orphanet,ORPHA:98967,Disorder,[Disease],Schnyder corneal dystrophy,"[Crystalline stromal dystrophy, Hereditary crystalline stromal dystrophy of Schnyder, SCCD, SCD, Schnyder crystalline corneal dystrophy, Schnyder crystalline dystrophy sine crystals]","Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.",[121800],,,,,Corneal dystrophy crystalline of Schnyder,TRUE,FALSE,Active +GARD:9278,Active,Orphanet,ORPHA:98963,Disorder,[Disease],Granular corneal dystrophy type II,"[Avellino corneal dystrophy, GCD2, GCDII, Granular corneal dystrophy type 2, Granular-lattice corneal dystrophy]","Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.",[607541],,,,,Corneal dystrophy Avellino type,TRUE,FALSE,Active +GARD:9279,Active,Orphanet,ORPHA:51208,Disorder,[Disease],Formiminoglutamic aciduria,"[FTCD deficiency, Formiminotransferase cyclodeaminase deficiency, Glutamate formiminotransferase deficiency]","A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.",[229100],,,,,Glutamate formiminotransferase deficiency,TRUE,FALSE,Active +GARD:9280,Active,Orphanet,ORPHA:1415,Disorder,[Malformation syndrome],Cholestasis-pigmentary retinopathy-cleft palate syndrome,[Hardikar syndrome],"A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.",,,,,,Hardikar syndrome,TRUE,FALSE,Active +GARD:9281,Active,Orphanet,ORPHA:404560,Disorder,[Disease],Familial atypical multiple mole melanoma syndrome,"[B-K mole syndrome, FAMM-PC syndrome, FAMMM syndrome, Familial atypical mole syndrome, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, Familial dysplastic nevus syndrome, Melanoma-pancreatic cancer syndrome]","Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.","[155600, 606719]",,,,,Familial atypical multiple mole melanoma syndrome,FALSE,FALSE,Active +GARD:9282,Active,Orphanet,ORPHA:370131,Disorder,[Disease],White platelet syndrome,,"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.",,,,,,White platelet syndrome,TRUE,FALSE,Active +GARD:9283,Active,Orphanet,ORPHA:1168,Disorder,[Disease],Ataxia-oculomotor apraxia type 1,[AOA1],"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.",[208920],,,,,Ataxia with oculomotor apraxia type 1,TRUE,FALSE,Active +GARD:9285,Active,Orphanet,ORPHA:67043,Disorder,[Disease],Amoebic keratitis,,"A rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.",,,,,,Acanthamoeba keratitis,TRUE,FALSE,Active +GARD:9286,Legacy,GARD,,,,,,,,,,,,Gnathostoma Infection,TRUE,FALSE,Active +GARD:9287,Active,Orphanet,ORPHA:1190,Disorder,[Malformation syndrome],Atelosteogenesis type I,"[AO1, AOI, Atelosteogenesis type 1, Giant cell chondrodysplasia, Spondylo-humero-femoral dysplasia]","A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.",[108720],,,,,Atelosteogenesis type 1,TRUE,FALSE,Active +GARD:9288,Active,Orphanet,ORPHA:85285,Disorder,[Malformation syndrome],"X-linked intellectual disability, Schimke type",,"X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.",[312840],,,,,"X-linked intellectual disability, Schimke type",TRUE,FALSE,Active +GARD:9289,Legacy,GARD,,,,,,,,,,,,Baby rattle pelvic dysplasia,TRUE,FALSE,Active +GARD:9290,Legacy,GARD,,,,,,,,,,,,Schizotaxia,TRUE,FALSE,Retired +GARD:9292,Active,Orphanet,ORPHA:77299,Disorder,[Malformation syndrome],Microphthalmia-brain atrophy syndrome,"[MCOPS10, MOBA syndrome, Syndromic microphthalmia type 10]","A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.",[611222],,,,,Microphthalmia syndromic 10,TRUE,FALSE,Active +GARD:9294,Active,Orphanet,ORPHA:65283,Disorder,[Malformation syndrome],Timothy syndrome,"[LQT8, Long QT syndrome type 8, Long QT syndrome-syndactyly syndrome]","A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.","[601005, 618447]",,,,,Timothy syndrome,TRUE,FALSE,Active +GARD:9295,Active,Orphanet,ORPHA:1860,Subtype of disorder,[Clinical subtype],Thanatophoric dysplasia type 1,"[TD1, Thanatophoric dwarfism type 1]","A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.",[187600],,,,,Thanatophoric dysplasia type 1,TRUE,FALSE,Active +GARD:9296,Active,Orphanet,ORPHA:101004,Disorder,[Disease],Autosomal recessive spastic paraplegia type 24,[SPG24],"A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.",[607584],,,,,Spastic paraplegia 24,TRUE,FALSE,Active +GARD:9297,Active,Orphanet,ORPHA:51636,Disorder,[Disease],WHIM syndrome,"[WILM, Warts-hypogammaglobulinemia-infections-myelokathexis syndrome, Warts-infections-leukopenia-myelokatexis syndrome]","WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).",[193670],,,,,WHIM syndrome,TRUE,FALSE,Active +GARD:9298,Active,Orphanet,ORPHA:3006,Disorder,[Disease],Pyridoxine-dependent epilepsy,"[Antiquitin deficiency, Vitamin B6-dependent seizures]","A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).","[266100, 617290]",,,,,Pyridoxine-dependent epilepsy,TRUE,FALSE,Active +GARD:9299,Active,Orphanet,ORPHA:73423,Disorder,[Disease],Acute ackee fruit intoxication,"[Acute intoxication by Blighia sapida, Jamaican vomiting sickness, Jamaican vomiting syndrome]","A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.",,,,,,Acute ackee fruit intoxication,TRUE,FALSE,Active +GARD:93,Active,Orphanet,ORPHA:573,Disorder,[Disease],Monilethrix,[Moniliform hair syndrome],A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.,[158000],,,,,Monilethrix,TRUE,FALSE,Active +GARD:9300,Legacy,GARD,,,,,,,,,,,,Anal cancer,TRUE,FALSE,Active +GARD:9301,Legacy,GARD,,,,,,,,,,,,"Cerebellar astrocytoma, childhood",TRUE,FALSE,Active +GARD:9302,Legacy,GARD,,,,,,,,,,,,"Cerebral astrocytoma, childhood",TRUE,FALSE,Active +GARD:9303,Legacy,GARD,,,,,,,,,,,,"Basal cell carcinoma, multiple",TRUE,FALSE,Active +GARD:9304,Active,Orphanet,ORPHA:70567,Disorder,[Disease],Cholangiocarcinoma,"[Bile duct cancer, CCA]","Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.",[615619],,,,,Bile duct cancer,TRUE,FALSE,Active +GARD:9305,Legacy,GARD,,,,,,,,,,,,"Bladder cancer, childhood",TRUE,FALSE,Retired +GARD:9306,Legacy,GARD,,,,,,,,,,,,Childhood brain stem glioma,TRUE,FALSE,Active +GARD:9307,Legacy,GARD,,,,,,,,,,,,"Brain tumor, adult",TRUE,FALSE,Active +GARD:9308,Legacy,GARD,,,,,,,,,,,,"Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified",TRUE,FALSE,Active +GARD:9309,Legacy,GARD,,,,,,,,,,,,"Visual pathway and hypothalamic glioma, childhood",TRUE,FALSE,Active +GARD:9310,Legacy,GARD,,,,,,,,,,,,"Brain tumor, childhood",TRUE,FALSE,Active +GARD:9311,Legacy,GARD,,,,,,,,,,,,"Breast cancer, childhood",TRUE,FALSE,Retired +GARD:9312,Legacy,GARD,,,,,,,,,,,,"Breast cancer, male",TRUE,FALSE,Active +GARD:9313,Legacy,GARD,,,,,,,,,,,,Bronchial adenomas/carcinoids childhood,TRUE,FALSE,Active +GARD:9315,Legacy,GARD,,,,,,,,,,,,Carcinoid tumor childhood,TRUE,FALSE,Active +GARD:9316,Active,Orphanet,ORPHA:877,Group of disorders,[Category],Neuroendocrine neoplasm,,"A group of rare tumors characterized by predominantly neuroendocrine differentiation, potentially arising in most organs of the body, including the central nervous system, respiratory tract, larynx, gastrointestinal tract, thyroid, skin, breast, and urogenital system. The gastrointestinal tract and lungs are the most common primary tumor sites. Based on clinical behavior, histology, and proliferation rate, the tumors may be categorized as well differentiated (low grade to intermediate grade) neuroendocrine tumors and poorly differentiated (high grade) neuroendocrine carcinomas. They may or may not be associated with clinical hormone hypersecretion syndromes.",,,,,,Carcinoid tumor,TRUE,FALSE,Active +GARD:9318,Active,Orphanet,ORPHA:46135,Disorder,[Disease],Primary central nervous system lymphoma,"[PCNSL, Primary CNS lymphoma, Primary brain lymphoma]","Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.",,,,,,Primary central nervous system lymphoma,TRUE,FALSE,Active +GARD:9319,Active,Orphanet,ORPHA:98274,Group of disorders,[Clinical group],Myeloproliferative neoplasm,"[MPD, MPN, Myeloproliferative disorder]",,,,,,,Chronic myeloproliferative disorders,TRUE,FALSE,Active +GARD:932,Active,Orphanet,ORPHA:1262,Disorder,[Malformation syndrome],Böök syndrome,,"A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.",[112300],,,,,Book syndrome,TRUE,FALSE,Active +GARD:9320,Legacy,GARD,,,,,,,,,,,,"Colorectal cancer, childhood",TRUE,FALSE,Retired +GARD:9321,Legacy,GARD,,,,,,,,,,,,"Esophageal cancer, childhood",TRUE,FALSE,Retired +GARD:9323,Legacy,GARD,,,,,,,,,,,,Ewing's family of tumors,TRUE,FALSE,Retired +GARD:9324,Legacy,GARD,,,,,,,,,,,,"Extracranial germ cell tumor, childhood",TRUE,FALSE,Retired +GARD:9325,Active,Orphanet,ORPHA:363579,Group of disorders,[Category],Extragonadal germ cell tumor,,,,,,,,Extragonadal germ cell tumor,TRUE,FALSE,Active +GARD:9328,Legacy,GARD,,,,,,,,,,,,Gallbladder cancer,TRUE,FALSE,Active +GARD:9329,Legacy,GARD,,,,,,,,,,,,"Stomach cancer, childhood",TRUE,FALSE,Retired +GARD:933,Active,Orphanet,ORPHA:1263,Disorder,[Disease],Boomerang dysplasia,,"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.",[112310],,,,,Boomerang dysplasia,TRUE,FALSE,Active +GARD:9330,Active,Orphanet,ORPHA:35807,Group of disorders,[Category],Malignant germ cell tumor of ovary,"[MOGCT, Malignant ovarian germ cell tumor, Ovarian germ cell cancer]","Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.",[603737],,,,,Ovarian germ cell tumor,TRUE,FALSE,Active +GARD:9331,Active,Orphanet,ORPHA:33402,Disorder,[Disease],Pediatric hepatocellular carcinoma,"[Childhood-onset HCC, Childhood-onset hepatocellular carcinoma, Pediatric HCC]","A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).",[114550],,,,,Childhood hepatocellular carcinoma,TRUE,FALSE,Active +GARD:9332,Legacy,GARD,,,,,,,,,,,,"Hodgkin lymphoma, childhood",TRUE,FALSE,Retired +GARD:9333,Legacy,GARD,,,,,,,,,,,,"Hodgkin lymphoma, during pregnancy",TRUE,FALSE,Retired +GARD:9334,Legacy,GARD,,,,,,,,,,,,Hypopharyngeal cancer,TRUE,FALSE,Active +GARD:9339,Legacy,GARD,,,,,,,,,,,,Kidney Neoplasm,FALSE,FALSE,Draft +GARD:9340,Legacy,GARD,,,,,,,,,,,,"Kidney cancer, childhood",TRUE,FALSE,Retired +GARD:9341,Legacy,GARD,,,,,,,,,,,,"Laryngeal cancer, childhood",TRUE,FALSE,Retired +GARD:9342,Legacy,GARD,,,,,,,,,,,,Lip and oral cavity cancer,TRUE,FALSE,Active +GARD:9343,Legacy,GARD,,,,,,,,,,,,"Non-small cell lung cancer, childhood",TRUE,FALSE,Retired +GARD:9344,Active,Orphanet,ORPHA:70573,Disorder,[Disease],Small cell lung cancer,[SCLC],"Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.",[182280],,,,,Small cell lung cancer,TRUE,FALSE,Active +GARD:9345,Legacy,GARD,,,,,,,,,,,,Childhood Lung Small Cell Carcinoma,TRUE,FALSE,Retired +GARD:9346,Legacy,GARD,,,,,,,,,,,,Childhood Non-Hodgkin Lymphoma,TRUE,FALSE,Retired +GARD:9347,Legacy,GARD,,,,,,,,,,,,"Non-Hodgkin lymphoma, during pregnancy",TRUE,FALSE,Retired +GARD:9348,Active,Orphanet,ORPHA:180247,Disorder,[Disease],Vaginal carcinoma,[Vaginal malignant epithelial tumor],"A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina.",,,,,,Vaginal cancer,TRUE,FALSE,Active +GARD:9349,Active,Orphanet,ORPHA:494418,Disorder,[Disease],Vulvar carcinoma,[Carcinoma of vulva],"A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding.",,,,,,Vulvar cancer,TRUE,FALSE,Active +GARD:9350,Legacy,GARD,,,,,,,,,,,,"Medulloblastoma, childhood",TRUE,FALSE,Active +GARD:9351,Active,Orphanet,ORPHA:98275,Group of disorders,[Clinical group],Myelodysplastic/myeloproliferative disease,,,,,,,,Myelodysplastic/myeloproliferative disease,TRUE,FALSE,Active +GARD:9353,Legacy,GARD,,,,,,,,,,,,"Nasal cavity cancer, childhood",TRUE,FALSE,Retired +GARD:9354,Legacy,GARD,,,,,,,,,,,,"Paranasal sinus cancer, adult",TRUE,FALSE,Active +GARD:9355,Legacy,GARD,,,,,,,,,,,,"Paranasal sinus cancer, childhood",TRUE,FALSE,Retired +GARD:9357,Legacy,GARD,,,,,,,,,,,,"Nasopharyngeal cancer, childhood",TRUE,FALSE,Retired +GARD:9358,Legacy,GARD,,,,,,,,,,,,"Oropharyngeal cancer, adult",TRUE,FALSE,Active +GARD:9359,Legacy,GARD,,,,,,,,,,,,"Oropharyngeal cancer, childhood",TRUE,FALSE,Retired +GARD:936,Active,Orphanet,ORPHA:127,Disorder,[Malformation syndrome],Borjeson-Forssman-Lehmann syndrome,"[BFLS, Intellectual disability-epilepsy-endocrine disorders syndrome]","Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.",[301900],,,,,Borjeson-Forssman-Lehmann syndrome,TRUE,FALSE,Active +GARD:9360,Legacy,GARD,,,,,,,,,,,,Oral cancer,TRUE,FALSE,Active +GARD:9361,Legacy,GARD,,,,,,,,,,,,Childhood ovarian cancer,TRUE,FALSE,Retired +GARD:9362,Active,Orphanet,ORPHA:398934,Group of disorders,[Category],Malignant epithelial tumor of ovary,"[Epithelial cancer of ovary, Ovarian epithelial cancer, Ovarian malignant epithelial tumor]",,,,,,,Ovarian epithelial cancer,TRUE,FALSE,Active +GARD:9363,Active,Orphanet,ORPHA:206473,Disorder,[Disease],Borderline epithelial tumor of ovary,"[Borderline ovarian epithelial tumor, Ovarian tumor of low malignant potential]","A rare epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type.",,,,,,Ovarian low malignant potential tumor,TRUE,FALSE,Active +GARD:9364,Active,Orphanet,ORPHA:180824,Group of disorders,[Category],Rare tumor of pancreas,[Rare pancreatic tumor],,,,,,,Pancreatic cancer,TRUE,FALSE,Active +GARD:9365,Legacy,GARD,,,,,,,,,,,,"Parathyroid cancer, childhood",TRUE,FALSE,Retired +GARD:9366,Active,Orphanet,ORPHA:398043,Group of disorders,[Category],Malignant tumor of penis,"[Cancer of penis, Malignant penile tumor, Penile cancer]",,,,,,,Penile cancer,TRUE,FALSE,Active +GARD:9367,Legacy,GARD,,,,,,,,,,,,"Penile cancer, childhood",TRUE,FALSE,Retired +GARD:9368,Legacy,GARD,,,,,,,,,,,,"Pheochromocytoma, childhood",TRUE,FALSE,Retired +GARD:9369,Active,Orphanet,ORPHA:251909,Disorder,[Disease],Pineoblastoma,,"Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.",,,,,,Pineoblastoma,TRUE,FALSE,Active +GARD:9370,Legacy,GARD,,,,,,,,,,,,"Pineoblastoma, childhood",TRUE,FALSE,Retired +GARD:9371,Active,Orphanet,ORPHA:300385,Disorder,[Disease],Pituitary carcinoma,,"A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.",,,,,,Pituitary cancer,TRUE,FALSE,Active +GARD:9373,Active,Orphanet,ORPHA:454714,Disorder,[Disease],Plasma cell leukemia,[PCL],"A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.",,,,,,Plasma cell leukemia,TRUE,FALSE,Active +GARD:9375,Legacy,GARD,,,,,,,,,,,,"Rectal cancer, childhood",TRUE,FALSE,Retired +GARD:9376,Active,Orphanet,ORPHA:598216,Disorder,[Disease],Upper tract urothelial carcinoma,"[Transitional cell carcinoma of the pelvis and ureter, Transitional cell carcinoma of the upper urinary tract, UTUC]",,,,,,,Transitional cell cancer of the renal pelvis and ureter,TRUE,FALSE,Active +GARD:9377,Legacy,GARD,,,,,,,,,,,,"Salivary gland cancer, adult",TRUE,FALSE,Active +GARD:9378,Legacy,GARD,,,,,,,,,,,,"Salivary gland cancer, childhood",TRUE,FALSE,Retired +GARD:938,Active,Orphanet,ORPHA:1264,Disorder,[Malformation syndrome],Tricho-retino-dento-digital syndrome,"[Bork syndrome, Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome]","Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.",[191482],,,,,Bork Stender Schmidt syndrome,TRUE,FALSE,Active +GARD:9380,Legacy,GARD,,,,,,,,,,,,Soft tissue sarcoma childhood,TRUE,FALSE,Retired +GARD:9382,Legacy,GARD,,,,,,,,,,,,"Skin cancer, non melanoma, childhood",TRUE,FALSE,Retired +GARD:9383,Legacy,GARD,,,,,,,,,,,,Uterine sarcoma,TRUE,FALSE,Active +GARD:9384,Legacy,GARD,,,,,,,,,,,,Metastatic squamous neck cancer with occult primary,TRUE,FALSE,Active +GARD:9385,Legacy,GARD,,,,,,,,,,,,Small intestine cancer,TRUE,FALSE,Active +GARD:9386,Legacy,GARD,,,,,,,,,,,,"Small intestine cancer, childhood",TRUE,FALSE,Retired +GARD:9387,Legacy,GARD,,,,,,,,,,,,"Testicular cancer, childhood",TRUE,FALSE,Retired +GARD:9388,Legacy,GARD,,,,,,,,,,,,"Thyroid cancer, childhood",TRUE,FALSE,Retired +GARD:939,Legacy,GARD,,,,,,,,,,,,Borrone Di Rocco Crovato syndrome,TRUE,FALSE,Active +GARD:9390,Legacy,GARD,,,,,,,,,,,,Urethral cancer,TRUE,FALSE,Active +GARD:9392,Legacy,GARD,,,,,,,,,,,,"Carcinoma of unknown primary site, childhood",TRUE,FALSE,Retired +GARD:9394,Legacy,GARD,,,,,,,,,,,,Acute cholinergic dysautonomia,TRUE,FALSE,Active +GARD:9396,Legacy,GARD,,,,,,,,,,,,Fibrolamellar carcinoma,TRUE,FALSE,Active +GARD:9397,Legacy,GARD,,,,,,,,,,,,Brenner tumor of ovary,TRUE,FALSE,Active +GARD:9398,Legacy,GARD,,,,,,,,,,,,Sarcoma botryoides,TRUE,FALSE,Active +GARD:9399,Legacy,GARD,,,,,,,,,,,,Glucagonoma syndrome,TRUE,FALSE,Retired +GARD:94,Active,Orphanet,ORPHA:578,Disorder,[Disease],Mucolipidosis type IV,,"A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.",[252650],,,,,Mucolipidosis type 4,TRUE,FALSE,Active +GARD:9400,Active,Orphanet,ORPHA:66529,Disorder,[Disease],Tako-Tsubo cardiomyopathy,"[Ampulla cardiomyopathy, Apical ballooning syndrome, Ballooning cardiomyopathy, Broken heart syndrome, Stress cardiomyopathy, Tako-Tsubo syndrome, Takotsubo cardiomyopathy, Takotsubo syndrome, Transient left ventricular apical ballooning syndrome]","A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS).",,,,,,Broken heart syndrome,TRUE,FALSE,Active +GARD:9401,Legacy,GARD,,,,,,,,,,,,Eagle syndrome,TRUE,FALSE,Active +GARD:9404,Active,Orphanet,ORPHA:498228,Disorder,[Disease],Phyllodes tumor of the prostate,"[Cystic epithelial-stromal tumors of the prostate, Cystosarcoma phyllodes of the prostate, Phyllodes type of atypical prostatic hyperplasia]","A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy.",,,,,,Phyllodes tumor of the prostate,TRUE,FALSE,Active +GARD:9405,Legacy,GARD,,,,,,,,,,,,Prostatic stromal proliferation of uncertain malignant potential,TRUE,FALSE,Active +GARD:9408,Legacy,GARD,,,,,,,,,,,,Secretory breast carcinoma,TRUE,FALSE,Active +GARD:9410,Legacy,GARD,,,,,,,,,,,,Pseudoangiomatous stromal hyperplasia,FALSE,FALSE,Active +GARD:9411,Legacy,GARD,,,,,,,,,,,,Primary familial xanthomatosis with involvement and calcification of the adrenal galnds,TRUE,FALSE,Retired +GARD:9412,Active,Orphanet,ORPHA:139396,Subtype of disorder,[Clinical subtype],X-linked cerebral adrenoleukodystrophy,[X-CALD],"A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.",[300100],,,,,X-linked cerebral adrenoleukodystrophy,TRUE,FALSE,Active +GARD:9413,Legacy,GARD,,,,,,,,,,,,De Quervain's disease,FALSE,FALSE,Active +GARD:9414,Legacy,GARD,,,,,,,,,,,,Neuromyelitis optica spectrum disorders,TRUE,FALSE,Retired +GARD:9415,Legacy,GARD,,,,,,,,,,,,Paraneoplastic Neurologic Disorders,TRUE,FALSE,Active +GARD:9416,Legacy,GARD,,,,,,,,,,,,Post-Streptococcal Neurologic Disorders,TRUE,FALSE,Retired +GARD:9417,Legacy,GARD,,,,,,,,,,,,Meralgia paresthetica,TRUE,FALSE,Active +GARD:9418,Active,Orphanet,ORPHA:3233,Disorder,[Malformation syndrome],Cochleosaccular degeneration-cataract syndrome,,"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.",[120040],,,,,Cochleosaccular degeneration of the inner ear and progressive cataracts,TRUE,FALSE,Active +GARD:9419,Legacy,GARD,,,,,,,,,,,,Rokitansky-Aschoff sinuses of the gallbladder,TRUE,FALSE,Active +GARD:942,Active,Orphanet,ORPHA:128,Disorder,[Disease],Diphyllobothriasis,[Bothriocephalosis],"Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).",,,,,,Bothriocephalosis,TRUE,FALSE,Active +GARD:9420,Active,Orphanet,ORPHA:2670,Disorder,[Malformation syndrome],Pierson syndrome,[Microcoria-congenital nephrosis syndrome],"A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.",[609049],,,,,Pierson syndrome,TRUE,FALSE,Active +GARD:9421,Legacy,GARD,,,,,,,,,,,,Halo nevus,TRUE,FALSE,Active +GARD:9422,Legacy,GARD,,,,,,,,,,,,Melanocytic lesions of CNS,TRUE,FALSE,Active +GARD:9423,Legacy,GARD,,,,,,,,,,,,Familial capillaro-venous leptomeningeal angiomatosis,TRUE,FALSE,Active +GARD:9428,Active,Orphanet+OMIM,OMIM:607464,Subtype of disorder,[Disease subtype],"Thyroid carcinoma, hurthle cell",[Hurthle cell thyroid neoplasia],"Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms ({4:Sanders and Silverman, 1998}).\n\nHurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm ({2:Maximo et al., 2005}).",[607464],[146],[Differentiated thyroid carcinoma],[12027],,Hurthle cell thyroid cancer,TRUE,FALSE,Active +GARD:9429,Active,Orphanet,ORPHA:309796,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 2,,,[222765],,,,,Rhizomelic chondrodysplasia punctata type 2,TRUE,FALSE,Active +GARD:943,Active,Orphanet,ORPHA:1267,Disorder,[Disease],Botulism,,"Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.",,,,,,Botulism,TRUE,FALSE,Active +GARD:9430,Active,Orphanet,ORPHA:93583,Subtype of disorder,[Clinical subtype],Congenital thrombotic thrombocytopenic purpura,"[Congenital ADAMTS-13 deficiency, Congenital TTP, Familial TTP, Upshaw-Schulman syndrome]","A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.",[274150],,,,,Congenital thrombotic thrombocytopenic purpura,TRUE,FALSE,Active +GARD:9432,Legacy,GARD,,,,,,,,,,,,"Hemolytic uremic syndrome, atypical, childhood",TRUE,FALSE,Active +GARD:9433,Active,Orphanet,ORPHA:289899,Group of disorders,[Category],Organic aciduria,,,,,,,,Organic acidemias,TRUE,FALSE,Active +GARD:9434,Legacy,GARD,,,,,,,,,,,,Sudden Arrhythmia Death Syndrome,TRUE,FALSE,Active +GARD:9435,Active,Orphanet+OMIM,OMIM:608233,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 2,,"Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia ({6:Jung et al., 2006}).",[608233],[183678],[Hermansky-Pudlak syndrome due to AP-3 deficiency],[15026],,Hermansky Pudlak syndrome 2,TRUE,FALSE,Active +GARD:9437,Legacy,GARD,,,,,,,,,,,,Dysesthetic Vulvodynia,TRUE,FALSE,Retired +GARD:9439,Legacy,GARD,,,,,,,,,,,,Vulvar Vestibulitis Syndrome,TRUE,FALSE,Active +GARD:944,Active,Orphanet,ORPHA:1180,Disorder,[Disease],Ataxia-hypogonadism-choroidal dystrophy syndrome,[Boucher-Neuhäuser syndrome],"A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).",[215470],,,,,Ataxia - hypogonadism - choroidal dystrophy,TRUE,FALSE,Active +GARD:9440,Legacy,GARD,,,,,,,,,,,,Psychosocial short stature,TRUE,FALSE,Retired +GARD:9441,Active,Orphanet,ORPHA:420561,Disorder,[Disease],Temple-Baraitser syndrome,"[Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome, TMBTS]","A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.",[611816],,,,,Temple-Baraitser syndrome,TRUE,FALSE,Active +GARD:9442,Active,Orphanet,ORPHA:366,Disorder,[Disease],Glycogen storage disease due to glycogen debranching enzyme deficiency,"[Amylo-1,6-glucosidase deficiency, Cori disease, Cori-Forbes disease, Forbes disease, GDE deficiency, GSD due to glycogen debranching enzyme deficiency, GSD type 3, GSDIII, Glycogen storage disease type 3, Glycogen storage disease type III, Glycogenosis due to glycogen debranching enzyme deficiency, Glycogenosis type 3, Glycogenosis type III, Limit dextrinosis]","Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.",[232400],,,,,Glycogen storage disease type 3,TRUE,FALSE,Active +GARD:9443,Active,Orphanet,ORPHA:85165,Disorder,[Disease],Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,[SADDAN],"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).",[616482],,,,,Severe achondroplasia with developmental delay and acanthosis nigricans,TRUE,FALSE,Active +GARD:9444,Active,Orphanet,ORPHA:99826,Disorder,[Disease],Marburg hemorrhagic fever,"[Green monkey disease, MHF, Marburg virus disease]","Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.",,,,,,Marburg hemorrhagic fever,TRUE,FALSE,Active +GARD:9445,Legacy,GARD,,,,,,,,,,,,Reactive angioendotheliomatosis,TRUE,FALSE,Active +GARD:9447,Active,Orphanet,ORPHA:79263,Disorder,[Disease],Infantile neuronal ceroid lipofuscinosis,"[Hagberg-Santavuori disease, INCL, Infantile NCL, Santavuori disease, Santavuori-Haltia disease]",Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.,[256730],,,,,Infantile neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:9448,Active,Orphanet,ORPHA:295016,Disorder,[Morphological anomaly],Camptodactyly of fingers,,"Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.",[114200],,,,,Familial streblodactyly,TRUE,FALSE,Active +GARD:9449,Active,Orphanet,ORPHA:100067,Subtype of disorder,[Clinical subtype],Waterhouse-Friderichsen syndrome,,,,,,,,Waterhouse–Friderichsen syndrome,TRUE,FALSE,Active +GARD:945,Legacy,GARD,,,,,,,,,,,,Boudhina Yedes Khiari syndrome,TRUE,FALSE,Active +GARD:9450,Active,Orphanet,ORPHA:180176,Disorder,[Morphological anomaly],Familial juvenile hypertrophy of the breast,"[Familial juvenile gigantomastia, Virginal breast hypertrophy]","A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.",[113670],,,,,Gigantomastia,TRUE,FALSE,Active +GARD:9451,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous cholecystitis,TRUE,FALSE,Active +GARD:9452,Active,Orphanet,ORPHA:91414,Disorder,[Disease],Pilomatrixoma,"[Epithelioma calcificans of Malherbe, Pilomatricoma]","Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).",[132600],,,,,Pilomatrixoma,TRUE,FALSE,Active +GARD:9453,Active,Orphanet,ORPHA:37553,Disorder,[Disease],Andersen-Tawil syndrome,"[Andersen syndrome, LQT7, Long QT syndrome type 7]","A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.",[170390],,,,,Andersen-Tawil syndrome,TRUE,FALSE,Active +GARD:9455,Active,Orphanet,ORPHA:2318,Disorder,[Malformation syndrome],Joubert syndrome with oculorenal defect,"[Arima syndrome, CORS, Cerebellooculorenal syndrome, Dekaban-Arima syndrome, JS type B, JS-OR, Joubert syndrome with Senior-Loken syndrome]",A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.,"[614424, 608091, 243910, 614465, 614844, 610188, 612285]",,,,,Joubert syndrome with oculorenal anomalies,TRUE,FALSE,Active +GARD:9456,Active,Orphanet,ORPHA:75563,Disorder,[Disease],X-linked sideroblastic anemia,[XLSA],"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.",[300751],,,,,X-linked sideroblastic anemia,TRUE,FALSE,Active +GARD:9457,Active,Orphanet,ORPHA:2924,Disorder,[Malformation syndrome],Isolated polycystic liver disease,"[ADPCLD, Autosomal dominant polycystic liver disease, PCLD]",Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).,"[174050, 617004]",,,,,Polycystic liver disease,TRUE,FALSE,Active +GARD:9458,Active,Orphanet+OMIM,OMIM:609192,Subtype of disorder,[Malformation syndrome subtype],Loeys-dietz syndrome 1,"[Furlong syndrome, aortic aneurysm, familial thoracic 5, loeys-dietz aortic aneurysm syndrome]","The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by {9:Loeys et al. (2006)}, the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.\n\nLDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by {10:MacCarrick et al., 2014}).\n\n<Subhead> Nomenclature\n\nIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) ({10:MacCarrick et al., 2014}). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below).\n\n<Subhead> Genetic Heterogeneity of Loeys-Dietz Syndrome\n\nLDS1 is caused by mutation in the TGFBR1 gene. LDS2 ({610168}) is caused by mutation in the TGFBR2 gene ({190182}). LDS3 ({613795}), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene ({603109}). LDS4 ({614816}) is caused by mutation in the TGFB2 gene ({190220}). LDS5 ({615582}) is caused by mutation in the TGFB3 gene ({190230}). LDS6 ({619656}) is caused by mutation in the SMAD2 gene ({601366}).\n\n<Subhead> Reviews\n\n{10:MacCarrick et al. (2014)} provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.\n\n{15:Schepers et al. (2018)} reviewed the clinical manifestations of LDS associated with mutation in the TRFBR1/2, TGFB1/2, and SMAD2/3 genes, concluding that the LDS phenotype represents a broad spectrum that is emerging as more patients are reported. They suggested genetic testing of the LDS genes be performed in the following scenarios: patients with the typical clinical trial of hypertelorism, cleft palate/bifid uvula and arterial tortuosity/aneurysm; early-onset aortic aneurysm with variable combination of other features including arachnodactyly, camptodactyly, club feet, any type of craniosynostosis, blue sclerae, thin skin with atrophic scars, easy bruising, joint hypermobility, bicuspid aortic valve, patent ductus arteriosus, atrial and ventricular septal defects; sporadic young probands with aortic root dilatation/dissection; families with autosomal dominant thoracic aortic aneurysms, especially those families with early-onset aortic/arterial dissection or aortic disease beyond the aortic root, including cerebral arteries; patients with a Marfan syndrome (MFS; {154700})-like phenotype, especially those without ectopia lentis, but with aortic and skeletal features not fulfilling the MFS diagnostic criteria; and patients with clinical features reminiscent of vascular Ehlers-Danlos syndrome ({130050}), including thin skin with atrophic scars, easy bruising, and joint hypermobility, who have normal type III collagen biochemistry and/or normal COL3A1 ({120180}) genetic testing.\n\n<Subhead> Diagnosis\n\n{15:Schepers et al. (2018)} noted that no formal diagnostic criteria had been developed for LDS, but stated that the diagnosis is established in individuals with a heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 who exhibit either aortic root enlargement (defined as an aortic root z-score greater than or equal to 2.0) or type A dissection, or compatible systemic features including characteristic craniofacial, skeletal, cutaneous, and/or vascular manifestations found in combination. Special emphasis should be given to arterial tortuosity, particularly of the head and neck vessels, and to aneurysms or dissections involving medium-to-large muscular arteries throughout the arterial tree.",[609192],[60030],[Loeys-Dietz syndrome],[10788],,Loeys-Dietz syndrome type 1,TRUE,FALSE,Active +GARD:9459,Legacy,GARD,,,,,,,,,,,,Tracheal agenesis without tracheoesophageal fistula,TRUE,FALSE,Retired +GARD:946,Legacy,GARD,,,,,,,,,,,,Bourneville syndrome,TRUE,FALSE,Retired +GARD:9460,Legacy,GARD,,,,,,,,,,,,"Ovarian insufficiency, familial",TRUE,FALSE,Active +GARD:9461,Legacy,GARD,,,,,,,,,,,,Autoimmune oophoritis,TRUE,FALSE,Active +GARD:9462,Legacy,GARD,,,,,,,,,,,,Microspherophakia with hernia,TRUE,FALSE,Active +GARD:9463,Active,Orphanet,ORPHA:85174,Disorder,[Malformation syndrome],Pseudodiastrophic dysplasia,,"Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.",[264180],,,,,Pseudodiastrophic dysplasia,TRUE,FALSE,Active +GARD:9465,Active,Orphanet+OMIM,OMIM:104300,Subtype of disorder,[Disease subtype],"Alzheimer disease, familial, 1",[Presenile and senile dementia],"Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions ({180:Sennvik et al., 2000}). {199:Terry and Davies (1980)} pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).\n\n{72:Haines (1991)} reviewed the genetics of AD. {179:Selkoe (1996)} reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. {202:Theuns and Van Broeckhoven (2000)} reviewed the transcriptional regulation of the genes involved in Alzheimer disease.\n\n<Subhead> Genetic Heterogeneity of Alzheimer Disease\n\nAlzheimer disease is a genetically heterogeneous disorder. See also AD2 ({104310}), associated with the APOE*4 allele ({107741}) on chromosome 19; AD3 ({607822}), caused by mutation in the presenilin-1 gene (PSEN1; {104311}) on 14q; and AD4 ({606889}), caused by mutation in the PSEN2 gene ({600759}) on 1q31.\n\nThere is evidence for additional AD loci on other chromosomes; see AD5 ({602096}) on 12p11; AD6 ({605526}) on 10q24; AD7 ({606187}) on 10p13; AD8 ({607116}) on 20p; AD9 ({608907}), associated with variation in the ABCA7 gene ({605414}) on 19p13; AD10 ({609636}) on 7q36; AD11 ({609790}) on 9q22; AD12 ({611073}) on 8p12-q22; AD13 ({611152}) on 1q21; AD14 ({611154}) on 1q25; AD15 ({604154}) on 3q22-q24; AD16 ({300756}) on Xq21.3; AD17 ({615080}) on 6p21.2; and AD18 ({615590}), associated with variation in the ADAM10 gene ({602192}) on 15q21.\n\nEvidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease ({502500}).\n\nFinally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1; {107770}), the transferrin gene (TF; {190000}), the hemochromatosis gene (HFE; {613609}), the NOS3 gene ({163729}), the vascular endothelial growth factor gene (VEGF; {192240}), the ABCA2 gene ({600047}), and the TNF gene ({191160}) (see MOLECULAR GENETICS).",[104300],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Alzheimer disease type 1,TRUE,FALSE,Active +GARD:9467,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 2,TRUE,FALSE,Active +GARD:9468,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 3,TRUE,FALSE,Active +GARD:9469,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 4,TRUE,FALSE,Active +GARD:9470,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 2,TRUE,FALSE,Active +GARD:9472,Active,Orphanet,ORPHA:251630,Disorder,[Disease],Anaplastic oligodendroglioma,,"A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.","[137800, 616568]",,,,,Anaplastic oligodendroglioma,TRUE,FALSE,Active +GARD:9473,Legacy,GARD,,,,,,,,,,,,Peroxisomal biogenesis disorders ,TRUE,FALSE,Active +GARD:9474,Active,Orphanet,ORPHA:2485,Disorder,[Malformation syndrome],Melorheostosis,,"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.",[155950],,,,,Melorheostosis,TRUE,FALSE,Active +GARD:9475,Legacy,GARD,,,,,,,,,,,,Dysautonomia like disorder,TRUE,FALSE,Active +GARD:9476,Legacy,GARD,,,,,,,,,,,,Impairment of oral perception,TRUE,FALSE,Active +GARD:9477,Legacy,GARD,,,,,,,,,,,,Anaplastic small cell lymphoma,TRUE,FALSE,Active +GARD:9478,Legacy,GARD,,,,,,,,,,,,Supraglottic laryngeal cancer,TRUE,FALSE,Active +GARD:9479,Active,Orphanet,ORPHA:79311,Subtype of disorder,[Clinical subtype],Vitamin B12-responsive methylmalonic acidemia type cblB,"[Vitamin B12-responsive methylmalonic aciduria, type cblB]",,[251110],,,,,"Methylmalonic aciduria, cblB type",TRUE,FALSE,Active +GARD:9480,Legacy,GARD,,,,,,,,,,,,Familial dermographism,TRUE,FALSE,Active +GARD:9481,Active,Orphanet,ORPHA:88924,Disorder,[Disease],Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,"[PKDTS, TSC2/PKD1 contiguous gene syndrome, Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome]","A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).",[600273],,,,,"Polycystic kidneys, severe infantile with tuberous sclerosis",TRUE,FALSE,Active +GARD:9482,Legacy,GARD,,,,,,,,,,,,Sixth nerve palsy,TRUE,FALSE,Active +GARD:9484,Active,Orphanet,ORPHA:247245,Disorder,[Disease],Superficial siderosis,"[Hemosiderosis of the central nervous system, Superficial hemosiderosis of the CNS, Superficial hemosiderosis of the central nervous system, Superficial siderosis of the CNS, Superficial siderosis of the central nervous system]","Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.",,,,,,Superficial siderosis of the central nervous system,TRUE,FALSE,Active +GARD:9485,Active,Orphanet+OMIM,OMIM:137750,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, a","[Glaucoma, primary open angle, juvenile-onset, 1]",,[137750],[98977],[Juvenile glaucoma],[16883],,Primary open angle glaucoma juvenile onset 1,TRUE,FALSE,Active +GARD:9486,Active,Orphanet,ORPHA:88620,Disorder,[Disease],Isolated congenital anosmia,,"This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).",[107200],,,,,Congenital anosmia,TRUE,FALSE,Active +GARD:9487,Active,Orphanet,ORPHA:2674,Disorder,[Malformation syndrome],Cyprus facial-neuromusculoskeletal syndrome,,"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.",[123853],,,,,Cyprus facial neuromusculoskeletal syndrome,TRUE,FALSE,Active +GARD:9488,Legacy,GARD,,,,,,,,,,,,Van Buchem disease type 2,TRUE,FALSE,Active +GARD:9489,Active,Orphanet,ORPHA:180188,Disorder,[Morphological anomaly],Isolated congenital breast hypoplasia/aplasia,[Isolated congenital amastia],"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","[113700, 616001]",,,,,Absent breasts and nipples,TRUE,FALSE,Active +GARD:9490,Legacy,GARD,,,,,,,,,,,,Flat umbilicus familial,TRUE,FALSE,Active +GARD:9491,Active,Orphanet+OMIM,OMIM:608553,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 9,,"Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by {7:Koenekoop et al., 2012}). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve ({10:Perrault et al., 2012}). Some patients present with later onset and milder phenotype than typical LCA ({8:Kumaran et al., 2021}).\n\nFor a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 ({204000}).",[608553],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 9,TRUE,FALSE,Active +GARD:9492,Active,Orphanet+OMIM,OMIM:609376,Subtype of disorder,[Clinical subtype],Cataract 35,,,[609376],[98991],[Early-onset nuclear cataract],[16887],,Autosomal recessive nonsyndromic congenital nuclear cataract,TRUE,FALSE,Active +GARD:9493,Active,Orphanet,ORPHA:602,Disorder,[Disease],GNE myopathy,"[DMRV, Distal myopathy with rimmed vacuoles, Distal myopathy, Nonaka type, HIBM2, Hereditary inclusion body myopathy type 2, IBM2, Inclusion body myopathy type 2, Nonaka myopathy, Quadriceps-sparing myopathy]","GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.","[617158, 605820]",,,,,Inclusion body myopathy 2,TRUE,FALSE,Active +GARD:9494,Active,Orphanet,ORPHA:79091,Disorder,[Disease],Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,"[HIBM3, Hereditary inclusion body myopathy type 3, IBM3, Inclusion body myopathy type 3]","A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.",[605637],,,,,Inclusion body myopathy 3,TRUE,FALSE,Active +GARD:9495,Active,Orphanet+OMIM,OMIM:204700,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia1","[Amelogenesis imperfecta, pigmented hypomaturation type, 1]","Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({4:Witkop, 1989}).\n\n<Subhead> Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta\n\nSee also AI2A2 ({612529}), caused by mutation in the MMP20 gene ({604629}); AI2A3 ({613211}), caused by mutation in the WDR72 gene ({613214}); and AI2A4 ({614832}), caused by mutation in the C4ORF26 gene ({614829}).",[204700],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,Amelogenesis imperfecta pigmented hypomaturation type,TRUE,FALSE,Active +GARD:9496,Active,Orphanet,ORPHA:94088,Disorder,[Malformation syndrome],Hereditary renal hypouricemia,,A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).,"[612076, 307830, 242050, 220150]",,,,,Renal hypouricemia,TRUE,FALSE,Active +GARD:9497,Legacy,GARD,,,,,,,,,,,,Ichthyosis hystrix gravior,TRUE,FALSE,Retired +GARD:9498,Legacy,GARD,,,,,,,,,,,,"Escobar syndrome, type B",TRUE,FALSE,Retired +GARD:9499,Active,Orphanet,ORPHA:48818,Disorder,[Disease],Aceruloplasminemia,[Hereditary ceruloplasmin deficiency],"A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.",[604290],,,,,Aceruloplasminemia,TRUE,FALSE,Active +GARD:95,Active,Orphanet,ORPHA:2576,Disorder,[Malformation syndrome],Mulibrey nanism,"[MUL, Mulibrey growth disorder, Muscle-liver-brain-eye nanism]",A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.,[253250],,,,,Mulibrey Nanism,TRUE,FALSE,Active +GARD:9500,Legacy,GARD,,,,,,,,,,,,"Tremor hereditary essential, 2",TRUE,FALSE,Active +GARD:9501,Active,Orphanet,ORPHA:53372,Disorder,[Disease],Hereditary geniospasm,"[Familial trembling of the chin, Hereditary chin myoclonus, Hereditary chin-trembling]",Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.,[190100],,,,,Hereditary geniospasm,TRUE,FALSE,Active +GARD:9502,Legacy,GARD,,,,,,,,,,,,Familial neurocardiogenic syncope,TRUE,FALSE,Active +GARD:9503,Legacy,GARD,,,,,,,,,,,,Anterior polar cataract 2,TRUE,FALSE,Retired +GARD:9504,Active,Orphanet+OMIM,OMIM:607728,Subtype of disorder,[Disease subtype],"Porokeratosis 4, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {3:Wu et al., 2004} and {6:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[607728],[79152],[Disseminated superficial actinic porokeratosis],[10983],,"Porokeratosis, disseminated superficial actinic 2",TRUE,FALSE,Active +GARD:9505,Active,Orphanet+OMIM,OMIM:175900,Subtype of disorder,[Disease subtype],"Porokeratosis 3, multiple types","[Porokeratosis, disseminated superficial actinic, 1]","Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({12:Schamroth et al., 1997}). However, as noted by {13:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'\n\nDisseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {15:Wu et al., 2004} and {18:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[175900],"[735, 79152]","[Porokeratosis of Mibelli, Disseminated superficial actinic porokeratosis]","[4438, 10983]",,"Porokeratosis, disseminated superficial actinic 1",TRUE,FALSE,Active +GARD:9506,Active,Orphanet,ORPHA:85199,Disorder,[Malformation syndrome],Craniosynostosis-anal anomalies-porokeratosis syndrome,"[CAP syndrome, CDAGS syndrome]","Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).",[603116],,,,,"Craniosynostosis, anal anomalies, and porokeratosis",TRUE,FALSE,Active +GARD:9507,Legacy,GARD,,,,,,,,,,,,Cornea guttata with anterior polar cataract,TRUE,FALSE,Active +GARD:9508,Active,Orphanet,ORPHA:98989,Subtype of disorder,[Clinical subtype],Cerulean cataract,[Blue-dot cataract],"A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.","[115660, 614422]",,,,,Cerulean cataract,TRUE,FALSE,Active +GARD:9509,Active,Orphanet,ORPHA:3242,Disorder,[Malformation syndrome],Renpenning syndrome,"[X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability, Renpenning type]","Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.",[309500],,,,,Renpenning syndrome,TRUE,FALSE,Active +GARD:951,Legacy,GARD,,,,,,,,,,,,Bowen syndrome,TRUE,FALSE,Retired +GARD:9511,Active,Orphanet,ORPHA:137675,Disorder,[Disease],Histiocytoid cardiomyopathy,"[Foamy myocardial transformation of infancy, Infantile cardiomyopathy with histiocytoid change, Infantile xanthomatous cardiomyopathy, Oncocytic cardiomyopathy]","A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.","[500000, 212080]",,,,,Infantile histiocytoid cardiomyopathy,TRUE,FALSE,Active +GARD:9512,Legacy,GARD,,,,,,,,,,,,Ainhum,TRUE,FALSE,Active +GARD:9513,Legacy,GARD,,,,,,,,,,,,Linear scleroderma,TRUE,FALSE,Active +GARD:9514,Active,Orphanet,ORPHA:180261,Disorder,[Disease],Phyllodes tumor of the breast,,"A rare fibroepithelial neoplasm usually presenting in adult females with a well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin. The neoplasm can be benign or malignant.",,,,,,Phyllodes tumor of the breast,TRUE,FALSE,Active +GARD:9515,Legacy,GARD,,,,,,,,,,,,Linear porokeratosis,TRUE,FALSE,Active +GARD:9516,Legacy,GARD,,,,,,,,,,,,Febrile Ulceronecrotic Mucha-Habermann disease,TRUE,FALSE,Active +GARD:9517,Active,Orphanet,ORPHA:97364,Subtype of disorder,[Clinical subtype],Bilateral multicystic dysplastic kidney,"[Bilateral MCDK, Bilateral multicystic renal dysplasia]","A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.",,,,,,"Multicystic renal dysplasia, bilateral",TRUE,FALSE,Active +GARD:9518,Legacy,GARD,,,,,,,,,,,,Ankylosing spondylitis,FALSE,FALSE,Active +GARD:9519,Legacy,GARD,,,,,,,,,,,,Autoimmune myocarditis,TRUE,FALSE,Active +GARD:9520,Legacy,GARD,,,,,,,,,,,,Buruli ulcer,TRUE,FALSE,Active +GARD:9521,Legacy,GARD,,,,,,,,,,,,CD3 deficiency,TRUE,FALSE,Active +GARD:9522,Legacy,GARD,,,,,,,,,,,,Chancroid,TRUE,FALSE,Active +GARD:9523,Legacy,GARD,,,,,,,,,,,,CD4 deficiency,TRUE,FALSE,Active +GARD:9525,Active,Orphanet,ORPHA:228123,Disorder,[Disease],Coccidioidomycosis,"[California disease, Coccidioides infection, Desert fever, Desert rheumatism, San Joaquin valley fever, Valley fever]","Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.",,,,,,Coccidioidomycosis,TRUE,FALSE,Active +GARD:9526,Legacy,GARD,,,,,,,,,,,,Complement component deficiency,TRUE,FALSE,Active +GARD:9527,Legacy,GARD,,,,,,,,,,,,Complement receptor deficiency,TRUE,FALSE,Active +GARD:9528,Active,Orphanet,ORPHA:210,Disorder,[Disease],Cyclosporosis,,"Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.",,,,,,Cyclosporiasis,TRUE,FALSE,Active +GARD:9529,Legacy,GARD,,,,,,,,,,,,Cytokine deficiency,TRUE,FALSE,Active +GARD:953,Active,Orphanet,ORPHA:2292,Disorder,[Malformation syndrome],Congenital bowing of long bones,,"A rare primary bone dysplasia characterized by congenital symmetric or asymmetric shortness and bowing of long bones, resulting in shortness of limbs and limited extension at the knees and elbows. Additional reported features are ''beaten metal'' appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. There have been no further descriptions in the literature since 1993.","[211355, 264050]",,,,,Bowing of long bones congenital,TRUE,FALSE,Active +GARD:9530,Legacy,GARD,,,,,,,,,,,,Cytokine receptor deficiency,TRUE,FALSE,Active +GARD:9531,Legacy,GARD,,,,,,,,,,,,Cytomegalovirus retinitis,TRUE,FALSE,Active +GARD:9532,Legacy,GARD,,,,,,,,,,,,Granuloma Inguinale,TRUE,FALSE,Active +GARD:9534,Active,Orphanet,ORPHA:2566,Disorder,[Disease],Chronic Epstein-Barr virus infection syndrome,"[CAEBV syndrome, Chronic EBV infection syndrome]","Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.",[226990],,,,,Chronic active Epstein-Barr virus infection,TRUE,FALSE,Active +GARD:9535,Active,Orphanet,ORPHA:47045,Disorder,[Disease],Familial cold urticaria,"[FCAS, FCU, Familial cold autoinflammatory syndrome]","Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.","[120100, 616115]",,,,,Familial cold autoinflammatory syndrome,TRUE,FALSE,Active +GARD:9536,Legacy,GARD,,,,,,,,,,,,Glanders,TRUE,FALSE,Active +GARD:9537,Legacy,GARD,,,,,,,,,,,,Haemophilus influenzae,TRUE,FALSE,Active +GARD:954,Legacy,GARD,,,,,,,,,,,,Boylan Dew Greco syndrome,TRUE,FALSE,Active +GARD:9541,Legacy,GARD,,,,,,,,,,,,Hepatitis E,TRUE,FALSE,Active +GARD:9542,Legacy,GARD,,,,,,,,,,,,Herpes simiae (B virus),TRUE,FALSE,Active +GARD:9544,Legacy,GARD,,,,,,,,,,,,Leucocyte adhesion defect,TRUE,FALSE,Retired +GARD:9545,Legacy,GARD,,,,,,,,,,,,Lymphogranuloma venereum,TRUE,FALSE,Active +GARD:9546,Active,Orphanet,ORPHA:31202,Disorder,[Disease],Melioidosis,,"A rare infectious disease caused by the Gram-negative bacillus Burkholderia (pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.",[615557],,,,,Melioidosis,TRUE,FALSE,Active +GARD:9547,Legacy,GARD,,,,,,,,,,,,Meningococcal infection,TRUE,FALSE,Active +GARD:9548,Legacy,GARD,,,,,,,,,,,,MHC class 1 deficiency,TRUE,FALSE,Active +GARD:9549,Legacy,GARD,,,,,,,,,,,,"Nasal polyposis, familial",TRUE,FALSE,Retired +GARD:955,Active,Orphanet,ORPHA:1299,Disorder,[Malformation syndrome],Branchioskeletogenital syndrome,"[BSG syndrome, Elsahy-Waters syndrome]","Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.",[211380],,,,,Brachioskeletogenital syndrome,TRUE,FALSE,Active +GARD:9550,Active,Orphanet,ORPHA:576370,Disorder,[Disease],Variant Creutzfeldt-Jakob disease,"[Variant MCJ, vCJD]","A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.",,,,,,Variant Creutzfeldt-Jakob disease,TRUE,FALSE,Active +GARD:9551,Legacy,GARD,,,,,,,,,,,,Bronchiolitis obliterans,TRUE,FALSE,Active +GARD:9552,Legacy,GARD,,,,,,,,,,,,Polyomavirus allograft nephropathy,TRUE,FALSE,Active +GARD:9553,Active,Orphanet,ORPHA:70568,Disorder,[Disease],Post-transplant lymphoproliferative disease,[PTLD],"A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft.",,,,,,Post-transplant lymphoproliferative disease,TRUE,FALSE,Active +GARD:9554,Legacy,GARD,,,,,,,,,,,,Primary amebic meningoencephalitis,TRUE,FALSE,Active +GARD:9557,Active,Orphanet,ORPHA:31205,Disorder,[Disease],Rat-bite fever,,"Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.",,,,,,Rat bite fever,TRUE,FALSE,Active +GARD:9558,Active,Orphanet,ORPHA:486,Disorder,[Disease],Autosomal dominant severe congenital neutropenia,,"A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.","[613107, 257100, 618752, 202700]",,,,,Severe congenital neutropenia autosomal dominant,TRUE,FALSE,Active +GARD:9559,Legacy,GARD,,,,,,,,,,,,Staphylococcal food poisoning,TRUE,FALSE,Active +GARD:9560,Active,Orphanet,ORPHA:36234,Disorder,[Disease],Bacterial toxic-shock syndrome,[Bacterial TSS],"Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).",,,,,,Staphylococcal toxic shock syndrome,TRUE,FALSE,Active +GARD:9561,Legacy,GARD,,,,,,,,,,,,Streptococcal Group A invasive disease,TRUE,FALSE,Active +GARD:9563,Legacy,GARD,,,,,,,,,,,,Neonatal systemic lupus erythematosus,TRUE,FALSE,Active +GARD:9564,Active,Orphanet,ORPHA:99745,Disorder,[Disease],Typhoid,"[Typhoid fever, Typhoidal salmonellosis]","Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.",,,,,,Typhoid fever,TRUE,FALSE,Active +GARD:9565,Legacy,GARD,,,,,,,,,,,,Vasculitis,FALSE,FALSE,Active +GARD:9568,Active,Orphanet,ORPHA:49041,Subtype of disorder,[Clinical subtype],IgG4-related retroperitoneal fibrosis,"[Idiopathic retroperitoneal fibrosis, Ormond disease]","A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.",[228800],,,,,Retroperitoneal fibrosis,TRUE,FALSE,Active +GARD:9569,Active,Orphanet,ORPHA:31112,Disorder,[Disease],Dermatofibrosarcoma protuberans,[DFSP],"Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).",[607907],,,,,Dermatofibrosarcoma protuberans,TRUE,FALSE,Active +GARD:957,Active,Orphanet,ORPHA:1519,Disorder,[Malformation syndrome],SPECC1L-related hypertelorism syndrome,"[Brachycephalofrontonasal dysplasia, Teebi hypertelorism syndrome]","A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.",[145420],,,,,Brachycephalofrontonasal dysplasia,TRUE,FALSE,Active +GARD:9570,Legacy,GARD,,,,,,,,,,,,Acral lentiginous melanoma,TRUE,FALSE,Active +GARD:9571,Active,Orphanet,ORPHA:422526,Disorder,[Disease],Hereditary clear cell renal cell carcinoma,[Hereditary clear cell renal cell adenocarcinoma],"Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.",[144700],,,,,Hereditary renal cell carcinoma,TRUE,FALSE,Active +GARD:9572,Active,Orphanet,ORPHA:319298,Disorder,[Disease],Papillary renal cell carcinoma,[Papillary renal cell adenocarcinoma],"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.",,,,,,Papillary renal cell carcinoma,TRUE,FALSE,Active +GARD:9573,Active,Orphanet,ORPHA:247203,Disorder,[Disease],Collecting duct carcinoma,"[BDC, Bellini carcinoma, Bellini duct carcinoma, CDC]","Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.",,,,,,Collecting duct carcinoma,TRUE,FALSE,Active +GARD:9574,Active,Orphanet,ORPHA:319276,Disorder,[Disease],Clear cell renal carcinoma,"[CCRCC, Clear cell renal cell adenocarcinoma, Clear cell renal cell carcinoma]","A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.",,,,,,Clear cell renal cell carcinoma,TRUE,FALSE,Active +GARD:9575,Legacy,GARD,,,,,,,,,,,,Chromophil renal cell carcinoma,TRUE,FALSE,Active +GARD:9576,Legacy,GARD,,,,,,,,,,,,Wittwer Syndrome,TRUE,FALSE,Retired +GARD:9578,Active,Orphanet,ORPHA:243367,Disorder,[Disease],Acute fatty liver of pregnancy,[AFLP],"A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.",,,,,,Acute fatty liver of pregnancy,TRUE,FALSE,Active +GARD:9579,Legacy,GARD,,,,,,,,,,,,Human spumaretrovirus infection,TRUE,FALSE,Active +GARD:958,Active,Orphanet,ORPHA:1272,Disorder,[Malformation syndrome],Aymé-Gripp syndrome,"[Brachycephaly-deafness-cataract-intellectual disability syndrome, Brachycephaly-hearing loss-cataract-intellectual disability syndrome, Fine-Lubinsky syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.","[601353, 601088]",,,,,Fine-Lubinsky syndrome,TRUE,FALSE,Active +GARD:9580,Legacy,GARD,,,,,,,,,,,,Mesangial proliferative glomerulonephritis,TRUE,FALSE,Active +GARD:9581,Active,Orphanet,ORPHA:100996,Disorder,[Disease],Autosomal recessive spastic paraplegia type 15,"[Hereditary spastic paraparesis type 15, Kjellin syndrome, SPG15, Spastic paraplegia-retinal degeneration syndrome]","Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.",[270700],,,,,Spastic paraplegia 15,TRUE,FALSE,Active +GARD:9582,Active,Orphanet,ORPHA:101005,Disorder,[Disease],Autosomal recessive spastic paraplegia type 25,"[Autosomal recessive spastic paraplegia-disc herniation syndrome, SPG25]","Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.",[608220],,,,,Spastic paraplegia 25,TRUE,FALSE,Active +GARD:9583,Active,Orphanet,ORPHA:447753,Disorder,[Disease],Autosomal dominant spastic paraplegia type 9A,"[AD-SPG9A, Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome, Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome]","A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.",[601162],,,,,Spastic paraplegia 9,TRUE,FALSE,Active +GARD:9584,Legacy,GARD,,,,,,,,,,,,Vibrio vulnificus infection,TRUE,FALSE,Active +GARD:9585,Active,Orphanet,ORPHA:100997,Disorder,[Disease],X-linked spastic paraplegia type 16,[SPG16],"A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.",[300266],,,,,Spastic paraplegia 16,TRUE,FALSE,Active +GARD:9586,Active,Orphanet,ORPHA:100993,Disorder,[Disease],Autosomal dominant spastic paraplegia type 12,[SPG12],"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.",[604805],,,,,Spastic paraplegia 12,TRUE,FALSE,Active +GARD:9587,Active,Orphanet,ORPHA:101006,Disorder,[Disease],Autosomal recessive spastic paraplegia type 26,"[GM2 synthase deficiency, SPG26]","Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.",[609195],,,,,Spastic paraplegia 26,TRUE,FALSE,Active +GARD:9588,Active,Orphanet,ORPHA:100999,Disorder,[Disease],Autosomal dominant spastic paraplegia type 19,[SPG19],"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.",[607152],,,,,Spastic paraplegia 19,TRUE,FALSE,Active +GARD:9589,Active,Orphanet,ORPHA:100995,Disorder,[Disease],Autosomal recessive spastic paraplegia type 14,[SPG14],"Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.",[605229],,,,,Spastic paraplegia 14,TRUE,FALSE,Active +GARD:959,Legacy,GARD,,,,,,,,,,,,Brachydactyly types B and E combined,TRUE,FALSE,Active +GARD:9590,Active,Orphanet,ORPHA:100991,Disorder,[Disease],Autosomal dominant spastic paraplegia type 10,[SPG10],"A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.",[604187],,,,,Spastic paraplegia 10,TRUE,FALSE,Active +GARD:9591,Active,Orphanet,ORPHA:100989,Disorder,[Disease],Autosomal dominant spastic paraplegia type 8,[SPG8],"A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.",[603563],,,,,Spastic paraplegia 8,TRUE,FALSE,Active +GARD:9592,Legacy,GARD,,,,,,,,,,,,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,FALSE,FALSE,Active +GARD:9593,Legacy,GARD,,,,,,,,,,,,Familial hypersecretion of adrenal androgens,TRUE,FALSE,Active +GARD:9595,Active,Orphanet,ORPHA:1195,Disorder,[Disease],Congenital atransferrinemia,[Congenital hypotransferrinemia],"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.",[209300],,,,,Atransferrinemia,TRUE,FALSE,Active +GARD:9596,Legacy,GARD,,,,,,,,,,,,Acquired amegakaryocytic thrombocytopenia,TRUE,FALSE,Active +GARD:9597,Legacy,GARD,,,,,,,,,,,,Postural orthostatic tachycardia syndrome,FALSE,FALSE,Active +GARD:9598,Active,Orphanet+OMIM,OMIM:114100,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, childhood-onset","[cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset, striopallidodentate calcinosis, bilateral, childhood-onset, Ibgc, childhood-onset]","Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; {168450}) metabolic disorders, such as hypoparathyroidism (see {146200}) or pseudohypoparathyroidism (PHP; see {103580}).\n\nSee also the adult-onset form ({213600}), which is sometimes erroneously referred to as 'Fahr disease.'",[114100],[51],[Aicardi-Goutières syndrome],[575],,Idiopathic basal ganglia calcification childhood-onset,TRUE,FALSE,Active +GARD:9599,Legacy,GARD,,,,,,,,,,,,"Nystagmus 2, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:960,Active,Orphanet,ORPHA:2619,Disorder,[Disease],"Brachydactylous dwarfism, Mseleni type",[Mseleni joint disease],"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.",[613342],,,,,Brachydactylous dwarfism Mseleni type,TRUE,FALSE,Active +GARD:9600,Legacy,GARD,,,,,,,,,,,,"Nystagmus 3, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:9601,Legacy,GARD,,,,,,,,,,,,"Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response",TRUE,FALSE,Active +GARD:9602,Active,Orphanet,ORPHA:97,Disorder,[Disease],Familial paroxysmal ataxia,[Episodic ataxia type 2],"A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.",[108500],,,,,Episodic ataxia with nystagmus,TRUE,FALSE,Active +GARD:9603,Legacy,GARD,,,,,,,,,,,,"Nystagmus 4, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:9604,Legacy,GARD,,,,,,,,,,,,"Nystagmus, hereditary vertical",TRUE,FALSE,Active +GARD:9605,Legacy,GARD,,,,,,,,,,,,"Nystagmus, myoclonic",TRUE,FALSE,Active +GARD:9606,Legacy,GARD,,,,,,,,,,,,"Chorea, remitting with nystagmus and cataracts",TRUE,FALSE,Active +GARD:9607,Legacy,GARD,,,,,,,,,,,,"Tremors, nystagmus and duodenal ulcers",TRUE,FALSE,Retired +GARD:9609,Legacy,GARD,,,,,,,,,,,,"Nystagmus, congenital motor, autosomal recessive",TRUE,FALSE,Active +GARD:961,Legacy,GARD,,,,,,,,,,,,Brachydactyly absence of distal phalanges,TRUE,FALSE,Active +GARD:9610,Legacy,GARD,,,,,,,,,,,,Microphthalmia with cataract 1,TRUE,FALSE,Active +GARD:9611,Active,Orphanet,ORPHA:98768,Disorder,[Disease],Spinocerebellar ataxia type 13,[SCA13],Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.,[605259],,,,,Spinocerebellar ataxia 13,TRUE,FALSE,Active +GARD:9612,Legacy,GARD,,,,,,,,,,,,Rud Syndrome,TRUE,FALSE,Active +GARD:9615,Active,Orphanet,ORPHA:397,Disorder,[Disease],Giant cell arteritis,"[Horton disease, Temporal arteritis]","A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.",[187360],,,,,Giant cell arteritis,TRUE,FALSE,Active +GARD:9616,Active,Orphanet,ORPHA:100994,Disorder,[Disease],Autosomal dominant spastic paraplegia type 13,[SPG13],"A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.",[605280],,,,,Spastic paraplegia 13,TRUE,FALSE,Active +GARD:9617,Legacy,GARD,,,,,,,,,,,,Desmoplastic infantile astrocytoma,TRUE,FALSE,Active +GARD:9618,Legacy,GARD,,,,,,,,,,,,Granular cell tumor,TRUE,FALSE,Active +GARD:9619,Legacy,GARD,,,,,,,,,,,,Actinic cheilitis,TRUE,FALSE,Active +GARD:962,Legacy,GARD,,,,,,,,,,,,Brachydactyly anonychia,TRUE,FALSE,Active +GARD:9620,Active,Orphanet,ORPHA:318,Disorder,[Disease],Acute erythroid leukemia,"[AML M6, Acute myeloid leukemia M6, Erythroleukemia]","A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.",[133180],,,,,Acute erythroid leukemia,TRUE,FALSE,Active +GARD:9621,Active,Orphanet,ORPHA:180229,Disorder,[Disease],Polyembryoma,,"A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.",,,,,,Polyembryoma,TRUE,FALSE,Active +GARD:9622,Legacy,GARD,,,,,,,,,,,,Polymorphic reticulosis,TRUE,FALSE,Active +GARD:9623,Legacy,GARD,,,,,,,,,,,,Tylosis,TRUE,FALSE,Retired +GARD:9624,Legacy,GARD,,,,,,,,,,,,Bednar tumor,TRUE,FALSE,Active +GARD:9625,Legacy,GARD,,,,,,,,,,,,Rheumatoid nodulosis,TRUE,FALSE,Active +GARD:9626,Active,Orphanet+OMIM,OMIM:602482,Subtype of disorder,"[Morphological anomaly subtype, Malformation syndrome subtype]","Axenfeld-rieger syndrome, type 3","[rieger syndrome, type 3, anterior chamber cleavage syndrome, Axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss]",,[602482],"[91483, 98978, 782]","[Axenfeld-Rieger syndrome, Axenfeld anomaly, Rieger anomaly]","[16485, 16482, 5701]",,Axenfeld-Rieger syndrome type 3,TRUE,FALSE,Retired +GARD:9628,Active,Orphanet,ORPHA:71517,Disorder,[Disease],Rapid-onset dystonia-parkinsonism,"[DYT12, Dystonia 12]","Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.",[128235],,,,,Rapid-onset dystonia-parkinsonism,TRUE,FALSE,Active +GARD:9629,Legacy,GARD,,,,,,,,,,,,"Dystonia 15, myoclonic",TRUE,FALSE,Retired +GARD:963,Legacy,GARD,,,,,,,,,,,,Brachydactyly type A3,TRUE,FALSE,Active +GARD:9630,Active,Orphanet,ORPHA:98806,Disorder,[Disease],"Primary dystonia, DYT6 type","[DYT6, Generalized cervical and upper-limb-onset dystonia, Idiopathic torsion dystonia of mixed type]","A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.",[602629],,,,,DYT-THAP1,TRUE,FALSE,Active +GARD:9631,Active,Orphanet+OMIM,OMIM:602554,Subtype of disorder,[Disease subtype],Torsion dystonia with onset in infancy,,"{1:Mostofsky et al. (1996)} reported a father and his daughter with torsion dystonia that could not be attributed to exogenous factors or other neurologic disorders. The first signs of the disorder in both patients appeared during the first year of life. The main manifestations included generalized dystonia with severe involvement of the legs and mild involvement of the face and arms, no progression of symptoms after 10 years of age, no evidence of parkinsonism, and no intellectual, cerebellar, or sensory involvement. Among 850 cases of idiopathic torsion dystonia ({128100}) collected from the literature, the authors found only 2 reports with onset before 3 years of age; the inheritance pattern in these 2 cases was not reported. No response to dopaminergic agents excluded dopa-responsive dystonia ({128230}). {1:Mostofsky et al. (1996)} suggested that the disorder in this family may represent a distinct autosomal dominant dystonia syndrome.",[602554],[256],[Early-onset generalized limb-onset dystonia],[2027],,Torsion dystonia with onset in infancy,TRUE,FALSE,Retired +GARD:9632,Active,Orphanet,ORPHA:77295,Subtype of disorder,[Clinical subtype],Odontoleukodystrophy,"[Dentoleukoencephalopathy, Leukodystrophy with oligodontia]",,[607694],,,,,POLR3-Related Leukodystrophy,TRUE,FALSE,Active +GARD:9633,Active,Orphanet+OMIM,OMIM:264420,Subtype of disorder,[Disease subtype],"Fundus dystrophy, pseudoinflammatory, recessive form","[Pfd, lavia type, pfd, finnish type]","Pseudoinflammatory fundus dystrophy was described by {6:Sorsby et al. (1949)} as a dominant disorder (see {136900}). The existence of a recessive form was suggested by several reports. From Finland, {3:Forsius et al. (1982)} reported a family in which both parents (who were related) were affected and all of their 8 children were also affected. Among collateral relatives, 3 other cases were found. All affected individuals over age 30 years had an 'exudative' process in the central part of the retina, often complicated at some stage by hemorrhages. The age of onset varied from the second to the fourth decade. Myopia increased rapidly in the active stages. The recessive form may have somewhat earlier age of onset on the average. An apparently recessive form was reported in 1 family by {5:Sorsby (1940)}. {4:Francois (1961)} reported 2 brothers who were thought to have the recessive form. {1:Eriksson et al. (1990)} provided follow-up on the family reported by {3:Forsius et al. (1982)}. They presented a pedigree documenting that the grandparents and parents of all 8 affected children were related in many ways. One of the 8 children had an affected daughter and an unaffected son. {1:Eriksson et al. (1990)} gave a comparison of the autosomal dominant and autosomal recessive forms of pseudoinflammatory fundus dystrophy, called by them the Sorsby type and the Lavia (Finnish) type, respectively. The Finnish type, thought to be inherited as an autosomal recessive, had earlier onset than the Sorsby type, with relatively rapid loss of visual acuity and striking peripheral retinal degeneration and secondary dyschromatopsia. Dark adaptation was normal in the Sorsby type and disturbed in the Lavia type.\n\nHowever, after heterozygous mutations in the gene encoding tissue inhibitor of metalloproteinases-3 (TIMP3; {188826}) were found as the cause of Sorsby fundus dystrophy, {2:Felbor et al. (1997)} restudied the Lavia kindred and showed that all affected members were heterozygous for a gly166-to-cys mutation in the TIMP3 gene ({188826.0004}) and provided strong evidence for an autosomal dominant inheritance of the Sorsby fundus dystrophy phenotype in this kindred. They concluded from all available data that SFD is a genetically homogeneous, although clinically heterogeneous, autosomal dominant disorder.",[264420],[59181],[Sorsby pseudoinflammatory fundus dystrophy],[16480],,Pseudoinflammatory fundus dystrophy,TRUE,FALSE,Active +GARD:9634,Active,Orphanet,ORPHA:994,Disorder,[Malformation syndrome],Fetal akinesia deformation sequence,"[Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, FADS, Pena-Shokeir syndrome type 1]","The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.","[208150, 300073, 618388, 618389, 618393, 618975]",,,,,Fetal akinesia deformation sequence,TRUE,FALSE,Active +GARD:9635,Active,Orphanet,ORPHA:64745,Disorder,[Disease],Pruritic urticarial papules and plaques of pregnancy,"[PUPPP, Polymorphic eruption of pregnancy]","A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.",[178995],,,,,Pruritic urticarial papules plaques of pregnancy,TRUE,FALSE,Active +GARD:9636,Legacy,GARD,,,,,,,,,,,,Adenosarcoma of the uterus,TRUE,FALSE,Active +GARD:9637,Legacy,GARD,,,,,,,,,,,,Spastic diplegia cerebral palsy,TRUE,FALSE,Active +GARD:9640,Active,Orphanet,ORPHA:33110,Subtype of disorder,[Clinical subtype],Autosomal agammaglobulinemia,"[Agammaglobulinemia, non-Bruton type]","A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.","[613506, 616941, 613500, 615214, 613501, 613502, 601495, 612692]",,,,,"Agammaglobulinemia, non-Bruton type",TRUE,FALSE,Active +GARD:9641,Legacy,GARD,,,,,,,,,,,,Rufous oculocutaneous albinism,TRUE,FALSE,Active +GARD:9642,Active,Orphanet+OMIM,OMIM:600116,Subtype of disorder,[Disease subtype],"Parkinson disease 2, autosomal recessive juvenile","[parkinsonism, early-onset, with diurnal fluctuation, Parkinson disease, juvenile, autosomal recessive]",,[600116],[2828],[Young-onset Parkinson disease],[16610],,Autosomal recessive juvenile Parkinson disease,TRUE,FALSE,Active +GARD:9643,Active,Orphanet,ORPHA:758,Disorder,[Disease],Pseudoxanthoma elasticum,"[Gronblad-Strandberg-Touraine syndrome, PXE]","A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.","[177850, 264800]",,,,,Pseudoxanthoma elasticum,TRUE,FALSE,Active +GARD:9644,Legacy,GARD,,,,,,,,,,,,Multicentric Castleman Disease,TRUE,FALSE,Active +GARD:9645,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 1,TRUE,FALSE,Active +GARD:9646,Legacy,GARD,,,,,,,,,,,,Spinal muscular atrophy Ryukyuan type,TRUE,FALSE,Active +GARD:9647,Active,Orphanet,ORPHA:98957,Disorder,[Disease],Gelatinous drop-like corneal dystrophy,"[GDCD, Primary familial amyloidosis of the cornea, Subepithelial amyloidosis of the cornea]","Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.",[204870],,,,,Amyloidosis corneal,TRUE,FALSE,Active +GARD:9648,Legacy,GARD,,,,,,,,,,,,Medial Medullary Syndrome,TRUE,FALSE,Active +GARD:9649,Active,Orphanet+OMIM,OMIM:216900,Subtype of disorder,[Disease subtype],Achromatopsia 2,"[Colorblindness, total, rod monochromatism 2, rod monochromacy 2]","Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by {7:Kohl et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Total Achromatopsia\n\nA form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to be the same as achromatopsia-3 (ACHM3; {262300}), caused by mutation in the CNGB3 gene ({605080}). ACHM4 ({613856}) is caused by mutation in the GNAT2 gene ({139340}); ACHM5 ({613093}) is caused by mutation in the PDE6C gene ({600827}); ACHM6 (see {610024}) is caused by mutation in the PDE6H gene ({601190}); and ACHM7 ({616517}) is caused by mutation in the ATF6 gene ({605537}).",[216900],[49382],[Achromatopsia],[15015],,Achromatopsia 2,TRUE,FALSE,Active +GARD:965,Legacy,GARD,,,,,,,,,,,,Brachydactyly dwarfism mental retardation,TRUE,FALSE,Retired +GARD:9650,Active,Orphanet+OMIM,OMIM:262300,Subtype of disorder,[Disease subtype],Achromatopsia 3,"[achromatopsia with myopia, rod monochromacy 1, formerly, total colorblindness with myopia, Pingelapese blindness, achm1, formerly, rod monochromatism 1, formerly]",,[262300],[49382],[Achromatopsia],[15015],,Achromatopsia 3,TRUE,FALSE,Active +GARD:9651,Legacy,GARD,,,,,,,,,,,,Alpha mannosidosis type 2,TRUE,FALSE,Retired +GARD:9652,Active,Orphanet,ORPHA:352540,Disorder,[Disease],Oncogenic osteomalacia,"[Oncogenic hypophosphatemic osteomalacia, TIO, Tumor-induced osteomalacia]","A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.",,,,,,Oncogenic osteomalacia,TRUE,FALSE,Active +GARD:9653,Legacy,GARD,,,,,,,,,,,,Anterior spinal artery stroke,TRUE,FALSE,Active +GARD:9654,Active,Orphanet,ORPHA:330058,Disorder,[Disease],Hydroa vacciniforme,,"A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.",,,,,,Hydroa vacciniforme,TRUE,FALSE,Active +GARD:9655,Legacy,GARD,,,,,,,,,,,,Hyperacusis,TRUE,FALSE,Active +GARD:9656,Legacy,GARD,,,,,,,,,,,,Pectus carinatum,TRUE,FALSE,Active +GARD:9657,Active,Orphanet,ORPHA:93347,Disorder,[Disease],Anauxetic dysplasia,"[Spondyloepimetaphyseal dysplasia, Menger type, Spondyloepimetaphyseal dysplasia, anauxetic type]","A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.","[618853, 607095, 617396]",,,,,Anauxetic dysplasia,TRUE,FALSE,Active +GARD:9658,Legacy,GARD,,,,,,,,,,,,Bartter syndrome antenatal type 2,TRUE,FALSE,Active +GARD:9659,Active,Orphanet,ORPHA:93605,Subtype of disorder,[Clinical subtype],Bartter syndrome type 3,[Bartter syndrome type III],"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.",[607364],,,,,Bartter syndrome type 3,TRUE,FALSE,Active +GARD:966,Active,Orphanet,ORPHA:1275,Disorder,[Malformation syndrome],Brachydactyly-elbow wrist dysplasia syndrome,"[Brachydactyly-joint dysplasia syndrome, Liebenberg syndrome]","Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.",[186550],,,,,Brachydactyly elbow wrist dysplasia,TRUE,FALSE,Active +GARD:9660,Legacy,GARD,,,,,,,,,,,,Amaurosis fugax,TRUE,FALSE,Active +GARD:9661,Active,Orphanet+OMIM,OMIM:604232,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 3,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa ({5:Gu et al., 1997}). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences ({12:Wang et al., 2009}; {1:Avila-Fernandez et al., 2011}; {4:Feldhaus et al., 2018}; {10:Sengillo et al., 2018}).\n\n{8:Mackay et al. (2011)} concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.\n\n<Subhead> Reviews\n\n{6:Kannabiran (2020)} reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia.",[604232],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 3,TRUE,FALSE,Active +GARD:9662,Active,Orphanet+OMIM,OMIM:604393,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 4,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({3:Gu et al., 1997}). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' ({2:Booij et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}; for cone-rod dystrophy, see {120970}.",[604393],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 4,TRUE,FALSE,Active +GARD:9663,Legacy,GARD,,,,,,,,,,,,Buschke-Lowenstein tumor,TRUE,FALSE,Active +GARD:9664,Legacy,GARD,,,,,,,,,,,,Primary malignant melanoma of the cervix,TRUE,FALSE,Active +GARD:9665,Active,Orphanet,ORPHA:99914,Disorder,[Disease],Gynandroblastoma,,,,,,,,Gynandroblastoma,TRUE,FALSE,Active +GARD:9667,Legacy,GARD,,,,,,,,,,,,HHV-6 encephalitis,TRUE,FALSE,Active +GARD:9669,Legacy,GARD,,,,,,,,,,,,Laugier-Hunziker syndrome,TRUE,FALSE,Active +GARD:967,Active,Orphanet,ORPHA:1276,Disorder,[Malformation syndrome],Brachydactyly-arterial hypertension syndrome,"[Bilginturan brachydactyly, Bilginturan syndrome, Brachydactyly type E, with short stature and hypertension]","A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.",[112410],,,,,Brachydactyly with hypertension,TRUE,FALSE,Active +GARD:9670,Active,Orphanet,ORPHA:329,Disorder,[Disease],Congenital factor XI deficiency,"[Hemophilia C, PTA deficiency, Plasma thromboplastin antecedent deficiency, Rosenthal factor deficiency, Rosenthal syndrome]","A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.",[612416],,,,,Factor XI deficiency,TRUE,FALSE,Active +GARD:9671,Legacy,GARD,,,,,,,,,,,,Lipodermatosclerosis,TRUE,FALSE,Active +GARD:9672,Legacy,GARD,,,,,,,,,,,,Double nails on the fifth toe,TRUE,FALSE,Active +GARD:9673,Active,Orphanet,ORPHA:2152,Disorder,[Malformation syndrome],Mowat-Wilson syndrome,[Hirschsprung disease-intellectual disability syndrome],"A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.",[235730],,,,,Mowat-Wilson syndrome,TRUE,FALSE,Active +GARD:9674,Legacy,GARD,,,,,,,,,,,,Primary cortisol resistance,TRUE,FALSE,Retired +GARD:9675,Active,Orphanet,ORPHA:2306,Disorder,[Malformation syndrome],Isotretinoin-like syndrome,"[Kawashima syndrome, Microtia-aortic arch syndrome]",Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.,[243440],,,,,Isotretinoin embryopathy like syndrome,TRUE,FALSE,Active +GARD:9676,Active,Orphanet,ORPHA:45448,Disorder,[Disease],Miyoshi myopathy,,A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.,"[613318, 254130]",,,,,Miyoshi myopathy,TRUE,FALSE,Active +GARD:9677,Active,Orphanet,ORPHA:98962,Disorder,[Disease],Granular corneal dystrophy type I,"[Classic GCD, Classic granular corneal dystrophy, Corneal dystrophy Groenouw type I, GCD1, GCDI, Granular corneal dystrophy type 1]","Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.",[121900],,,,,Groenouw type I corneal dystrophy,TRUE,FALSE,Active +GARD:9678,Active,Orphanet,ORPHA:98964,Disorder,[Disease],Lattice corneal dystrophy type I,"[Biber-Haab-Dimmer dystrophy, Classic lattice corneal dystrophy, LCD1, LCDI, Lattice corneal dystrophy type 1]",Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.,"[122200, 608471]",,,,,Lattice corneal dystrophy type 1,TRUE,FALSE,Active +GARD:9679,Active,Orphanet,ORPHA:363417,Disorder,[Malformation syndrome],Temtamy preaxial brachydactyly syndrome,,"Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.",[605282],,,,,Temtamy preaxial brachydactyly syndrome,TRUE,FALSE,Active +GARD:968,Active,Orphanet,ORPHA:2946,Disorder,[Malformation syndrome],Brachydactyly-long thumb syndrome,"[Brachydactyly, long thumb type]","Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.",[112430],,,,,Brachydactyly long thumb type,TRUE,FALSE,Active +GARD:9681,Active,Orphanet,ORPHA:140976,Disorder,[Disease],RHYNS syndrome,[Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome],"A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.",[602152],,,,,RHYNS syndrome,TRUE,FALSE,Active +GARD:9682,Active,Orphanet,ORPHA:309803,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 3,,,[600121],,,,,Rhizomelic chondrodysplasia punctata type 3,TRUE,FALSE,Active +GARD:9683,Active,Orphanet,ORPHA:71,Disorder,[Disease],Chylomicron retention disease,"[Anderson disease, CMRD, CRD]","Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.",[246700],,,,,Chylomicron retention disease,TRUE,FALSE,Active +GARD:9684,Active,Orphanet,ORPHA:71272,Disorder,[Disease],Sandifer syndrome,,"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.",,,,,,Sandifer syndrome,TRUE,FALSE,Active +GARD:9687,Active,Orphanet,ORPHA:1247,Disorder,[Disease],Schistosomiasis,[Bilharziasis],"Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.",[181460],,,,,Schistosomiasis,TRUE,FALSE,Active +GARD:9688,Active,Orphanet,ORPHA:98954,Disorder,[Disease],Meesmann corneal dystrophy,"[Juvenile hereditary epithelial dystrophy of Meesmann, MECD]","Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.","[122100, 618767]",,,,,Meesmann corneal dystrophy,TRUE,FALSE,Active +GARD:9689,Active,Orphanet+OMIM,OMIM:254210,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 6, presynaptic","[Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, myasthenia gravis, familial infantile, 2, formerly, cms ia2, formerly, myasthenia, familial infantile, formerly, congenital myasthenic syndrome type ia2, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by {3:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[254210],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,Congenital myasthenic syndrome with episodic apnea,TRUE,FALSE,Active +GARD:969,Legacy,GARD,,,,,,,,,,,,Brachydactyly-mesomelia-mental retardation-heart defects syndrome,TRUE,FALSE,Retired +GARD:9690,Active,Orphanet,ORPHA:97332,Disorder,[Disease],Kienbock disease,"[Aseptic necrosis of the lunate bone, Lunatomalacia, Osteochondrosis of the lunate bone, Progressive avascular necrosis of the lunate bone]","Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.",,,,,,Kienbock's disease,TRUE,FALSE,Active +GARD:9691,Legacy,GARD,,,,,,,,,,,,Scaphotrapeziotrapezoid arthrodesis,FALSE,FALSE,Draft +GARD:9692,Active,Orphanet,ORPHA:295036,Disorder,[Morphological anomaly],Congenital patella dislocation,,"A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.",,,,,,Congenital dislocation of the patella,TRUE,FALSE,Active +GARD:9694,Active,Orphanet,ORPHA:79403,Disorder,[Disease],Junctional epidermolysis bullosa with pyloric atresia,"[Carmi syndrome, JEB with pyloric atresia, JEB-PA]",A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.,[226730],,,,,Junctional epidermolysis bullosa with pyloric atresia,TRUE,FALSE,Active +GARD:9695,Legacy,GARD,,,,,,,,,,,,Sakoda complex,TRUE,FALSE,Active +GARD:9696,Active,Orphanet,ORPHA:91481,Disorder,[Disease],Ring dermoid of cornea,[Ring dermoid syndrome],Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.,[180550],,,,,Ring dermoid of cornea,TRUE,FALSE,Active +GARD:9697,Active,Orphanet,ORPHA:65684,Disorder,[Disease],Monomelic amyotrophy,"[Benign focal amyotrophy, Hirayama disease, JMADUE, Juvenile muscular atrophy of distal upper extremity, Juvenile muscular atrophy of the distal upper limb]",Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.,[602440],,,,,Monomelic amyotrophy,TRUE,FALSE,Active +GARD:9698,Active,Orphanet,ORPHA:96167,Disorder,[Malformation syndrome],Recombinant 8 syndrome,"[Duplication 8q/deletion 8p, Rec(8) syndrome, Rec8 syndrome, Recombinant chromosome 8 syndrome, San Luis Valley syndrome]","Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.",[179613],,,,,Recombinant chromosome 8 syndrome,TRUE,FALSE,Active +GARD:9699,Legacy,GARD,,,,,,,,,,,,Ossification of the posterior longitudinal ligament of the spine,FALSE,FALSE,Active +GARD:9700,Legacy,GARD,,,,,,,,,,,,LCAD deficiency,TRUE,FALSE,Active +GARD:9701,Active,Orphanet+OMIM,OMIM:182990,Subtype of disorder,[Morphological anomaly subtype],Spinal intradural arachnoid cysts,,"{1:Aarabi et al. (1979)} reported father and daughter with surgically proven thoracic intradural arachnoid cysts. Two brothers of the father and another daughter were suspected by history to be affected also. One of these was deceased. The other two, with long-term, progressive, painless paraplegia, refused medical evaluation. The cysts were not associated with increased interpediculate distances or with distichiasis and lymphedema. The authors knew of no similar family.",[182990],[2356],[Arachnoid cyst],[17],,Spinal intradural arachnoid cysts,TRUE,FALSE,Active +GARD:9702,Legacy,GARD,,,,,,,,,,,,Hooft disease,TRUE,FALSE,Active +GARD:9703,Active,Orphanet+OMIM,OMIM:608681,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 2, autosomal recessive",,"Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 ({277300}).",[608681],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 2,TRUE,FALSE,Active +GARD:9704,Active,Orphanet,ORPHA:85287,Disorder,[Malformation syndrome],"X-linked intellectual disability, Siderius type",,"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.",[300263],,,,,"X-linked intellectual disability, Siderius type",TRUE,FALSE,Active +GARD:9705,Active,Orphanet,ORPHA:158668,Disorder,[Disease],Ectodermal dysplasia-skin fragility syndrome,[McGrath syndrome],"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.",[604536],,,,,Ectodermal dysplasia skin fragility syndrome,TRUE,FALSE,Active +GARD:9706,Active,Orphanet,ORPHA:91496,Disorder,[Disease],Snowflake vitreoretinal degeneration,,"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.",[193230],,,,,Snowflake vitreoretinal degeneration,TRUE,FALSE,Active +GARD:9707,Active,Orphanet,ORPHA:211,Subtype of disorder,[Clinical subtype],Familial cylindromatosis,[Turban tumor syndrome],,[132700],,,,,Familial cylindromatosis,TRUE,FALSE,Retired +GARD:9709,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 1",TRUE,FALSE,Active +GARD:971,Active,Orphanet,ORPHA:1246,Disorder,[Malformation syndrome],Brachydactyly-nystagmus-cerebellar ataxia syndrome,[Biemond syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.",[113400],,,,,Biemond syndrome,TRUE,FALSE,Active +GARD:9710,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 2",TRUE,FALSE,Active +GARD:9711,Active,Orphanet,ORPHA:46059,Disorder,[Disease],Lathosterolosis,[Sterol C5-desaturase deficiency],"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.",[607330],,,,,Lathosterolosis,TRUE,FALSE,Active +GARD:9712,Legacy,GARD,,,,,,,,,,,,Mycobacterium Marinum,TRUE,FALSE,Active +GARD:9713,Legacy,GARD,,,,,,,,,,,,Levotransposition of the great arteries,TRUE,FALSE,Active +GARD:9714,Legacy,GARD,,,,,,,,,,,,Littoral cell angioma of the spleen,TRUE,FALSE,Active +GARD:9715,Active,Orphanet,ORPHA:79478,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 3,[Griscelli-Pruniéras syndrome type 3],,[609227],,,,,Griscelli syndrome type 3,TRUE,FALSE,Active +GARD:9716,Legacy,GARD,,,,,,,,,,,,Aspergillus niger infection,TRUE,FALSE,Active +GARD:9717,Legacy,GARD,,,,,,,,,,,,Left-sided gallbladder,TRUE,FALSE,Active +GARD:9718,Legacy,GARD,,,,,,,,,,,,Fibrocartilaginous embolism,TRUE,FALSE,Active +GARD:9719,Legacy,GARD,,,,,,,,,,,,Orbital lymphoma,TRUE,FALSE,Active +GARD:972,Active,Orphanet,ORPHA:1278,Disorder,[Malformation syndrome],Brachydactyly-preaxial hallux varus syndrome,,"A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.",[112450],,,,,Brachydactyly preaxial with hallux varus and thumb abduction,TRUE,FALSE,Active +GARD:9720,Legacy,GARD,,,,,,,,,,,,Orbital lymphangioma,TRUE,FALSE,Active +GARD:9721,Legacy,GARD,,,,,,,,,,,,Herpes zoster ophthalmicus,TRUE,FALSE,Active +GARD:9722,Legacy,GARD,,,,,,,,,,,,Congenital pseudoarthrosis,TRUE,FALSE,Active +GARD:9723,Active,Orphanet,ORPHA:1883,Disorder,[Malformation syndrome],Ectodermal dysplasia-sensorineural deafness syndrome,[Ectodermal dysplasia-sensorineural hearing loss syndrome],"Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.",[224800],,,,,Congenital ectodermal dysplasia with hearing loss,TRUE,FALSE,Active +GARD:9724,Legacy,GARD,,,,,,,,,,,,Nipah virus encephalitis,TRUE,FALSE,Active +GARD:9725,Active,Orphanet,ORPHA:137617,Disorder,[Disease],Nephrogenic systemic fibrosis,[Nephrogenic fibrosing dermopathy],"Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.",,,,,,Nephrogenic Systemic Fibrosis,TRUE,FALSE,Active +GARD:9726,Active,Orphanet+OMIM,OMIM:603622,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 17",,,[603622],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 17",TRUE,FALSE,Active +GARD:9728,Active,Orphanet,ORPHA:606,Disorder,[Disease],Proximal myotonic myopathy,"[Myotonic dystrophy type 2, Proximal myotonic dystrophy, Ricker disease, Ricker syndrome]","A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.",[602668],,,,,Myotonic dystrophy type 2,TRUE,FALSE,Active +GARD:9729,Active,Orphanet,ORPHA:101009,Disorder,[Disease],Autosomal dominant spastic paraplegia type 29,[SPG29],"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.",[609727],,,,,Spastic paraplegia 29,TRUE,FALSE,Active +GARD:9730,Active,Orphanet,ORPHA:34587,Disorder,[Disease],Glycogen storage disease due to LAMP-2 deficiency,"[Danon disease, GSD due to LAMP-2 deficiency, Glycogenosis due to LAMP-2 deficiency, Lysosomal glycogen storage disease with normal acid maltase activity]","Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.",[300257],,,,,Danon disease,TRUE,FALSE,Active +GARD:9731,Legacy,GARD,,,,,,,,,,,,Bobble-head doll syndrome,TRUE,FALSE,Active +GARD:9732,Active,Orphanet,ORPHA:98956,Disorder,[Disease],Epithelial basement membrane dystrophy,"[Anterior basement membrane dystrophy, Cogan microcystic epithelial dystrophy, EBMD, Map-dot-fingerprint dystrophy]","A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.",[121820],,,,,Epithelial basement membrane corneal dystrophy,TRUE,FALSE,Active +GARD:9733,Active,Orphanet+OMIM,OMIM:601277,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 4a","[ichthyosis, lamellar, 2, formerly, Ichthyosis congenita iib]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {7:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[601277],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 2,TRUE,FALSE,Active +GARD:9734,Active,Orphanet+OMIM,OMIM:604777,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 5","[ichthyosis congenita iii, ichthyosis, lamellar, 3, formerly, Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {5:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[604777],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 3,TRUE,FALSE,Active +GARD:9735,Legacy,GARD,,,,,,,,,,,,"Ichthyosis lamellar, autosomal dominant",TRUE,FALSE,Active +GARD:9736,Active,Orphanet,ORPHA:79394,Disorder,[Disease],Congenital non-bullous ichthyosiform erythroderma,"[CIE, Erythrodermic ichthyosis, Non-bullous congenital ichthyosiform erythroderma]","Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.","[615023, 606545, 615024, 612281, 242100, 615022]",,,,,Nonbullous congenital ichthyosiform erythroderma,TRUE,FALSE,Active +GARD:9737,Active,Orphanet,ORPHA:79397,Disorder,[Disease],Epidermolysis bullosa simplex with mottled pigmentation,"[EBS with mottled pigmentation, EBS-MP]","A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.",[131960],,,,,Epidermolysis bullosa simplex with mottled pigmentation,TRUE,FALSE,Active +GARD:9738,Legacy,GARD,,,,,,,,,,,,Kyrle disease,TRUE,FALSE,Active +GARD:9739,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous sialadenitis,TRUE,FALSE,Active +GARD:974,Legacy,GARD,,,,,,,,,,,,Brachydactyly small stature face anomalies,TRUE,FALSE,Active +GARD:9740,Active,Orphanet,ORPHA:334,Disorder,[Disease],Familial atrial fibrillation,,"Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.","[608988, 612240, 611819, 611493, 611494, 613055, 614049, 615377, 608583, 613120, 614050, 615378, 615770, 617280, 614022, 607554, 612201, 613980]",,,,,Familial atrial fibrillation,TRUE,FALSE,Active +GARD:9741,Active,Orphanet,ORPHA:137754,Disorder,[Disease],Neurological conditions associated with aminoacylase 1 deficiency,"[ACY1D, N-acyl-L-amino acid amidohydrolase deficiency]",An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.,[609924],,,,,Aminoacylase 1 deficiency,TRUE,FALSE,Active +GARD:9742,Active,Orphanet,ORPHA:78,Disorder,[Disease],Ankylostomiasis,"[Ancylostomiasis, Hookworm infection]","A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.",,,,,,Ancylostomiasis,TRUE,FALSE,Active +GARD:9743,Legacy,GARD,,,,,,,,,,,,Duodenal ulcer due to antral G-cell hyperfunction,TRUE,FALSE,Active +GARD:9744,Active,Orphanet,ORPHA:79100,Disorder,[Disease],Atrophoderma vermiculata,[Folliculitis ulerythematosa reticulate],"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","[209700, 604093]",,,,,Atrophoderma vermiculata,TRUE,FALSE,Active +GARD:9745,Legacy,GARD,,,,,,,,,,,,Metagonimiasis,TRUE,FALSE,Active +GARD:9746,Legacy,GARD,,,,,,,,,,,,Opisthorchiasis,TRUE,FALSE,Active +GARD:9747,Legacy,GARD,,,,,,,,,,,,Cercarial Dermatitis,TRUE,FALSE,Active +GARD:9748,Active,Orphanet,ORPHA:90291,Disorder,[Disease],Systemic sclerosis,[Systemic scleroderma],"Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).",[181750],,,,,Systemic scleroderma,TRUE,FALSE,Active +GARD:9749,Active,Orphanet,ORPHA:220407,Subtype of disorder,[Clinical subtype],Limited systemic sclerosis,[Systemic sclerosis sine scleroderma],Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.,,,,,,Limited systemic sclerosis,TRUE,FALSE,Active +GARD:9750,Legacy,GARD,,,,,,,,,,,,Di Guglielmo's syndrome,TRUE,FALSE,Active +GARD:9751,Active,Orphanet,ORPHA:220393,Subtype of disorder,[Clinical subtype],Diffuse cutaneous systemic sclerosis,"[Diffuse cutaneous systemic scleroderma, Progressive cutaneous systemic scleroderma, Progressive cutaneous systemic sclerosis]","Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).",,,,,,Diffuse cutaneous systemic sclerosis,TRUE,FALSE,Active +GARD:9752,Legacy,GARD,,,,,,,,,,,,Cutaneous sclerosis,TRUE,FALSE,Active +GARD:9753,Legacy,GARD,,,,,,,,,,,,Juvenile Scleroderma,TRUE,FALSE,Retired +GARD:9754,Legacy,GARD,,,,,,,,,,,,Nguyen syndrome,TRUE,FALSE,Active +GARD:9755,Active,Orphanet,ORPHA:411629,Subtype of disorder,[Clinical subtype],Infantile nephropathic cystinosis,,"A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.",[219800],,,,,Nephropathic cystinosis,TRUE,FALSE,Retired +GARD:9756,Active,Orphanet,ORPHA:411641,Subtype of disorder,[Clinical subtype],Ocular cystinosis,"[Adult-onset cystinosis, Non-nephropathic cystinosis]","Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.",[219750],,,,,"Cystinosis, ocular nonnephropathic",TRUE,FALSE,Retired +GARD:9757,Legacy,GARD,,,,,,,,,,,,Red skin pigment anomaly of New Guinea,TRUE,FALSE,Active +GARD:9758,Active,Orphanet,ORPHA:101049,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 2,[FHH type 2],,[145981],,,,,Familial hypocalciuric hypercalcemia type 2,TRUE,FALSE,Active +GARD:9759,Active,Orphanet,ORPHA:2387,Disorder,[Disease],Leukonychia totalis,,"Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.",[151600],,,,,Leukonychia totalis,TRUE,FALSE,Active +GARD:9760,Legacy,GARD,,,,,,,,,,,,Hereditary koilonychia,TRUE,FALSE,Active +GARD:9761,Active,Orphanet,ORPHA:79144,Disorder,[Disease],Isolated congenital onychodysplasia,"[COIF, COIF syndrome, Congenital onychodysplasia of the index fingers, Iso-Kikuchi syndrome]","A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.",[605779],,,,,"Nail dysplasia, isolated congenital",TRUE,FALSE,Active +GARD:9762,Active,Orphanet,ORPHA:52022,Disorder,[Malformation syndrome],Potocki-Shaffer syndrome,"[11p11.2 deletion, Proximal 11p deletion syndrome]","A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.",[601224],,,,,Potocki-Shaffer syndrome,TRUE,FALSE,Active +GARD:9764,Legacy,GARD,,,,,,,,,,,,Pseudoainhum,TRUE,FALSE,Active +GARD:9765,Legacy,GARD,,,,,,,,,,,,Myokymia with neonatal epilepsy,TRUE,FALSE,Active +GARD:9766,Active,Orphanet,ORPHA:83467,Disorder,[Disease],Morvan syndrome,"[Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, Morvan fibrillary chorea]","Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.",,,,,,Morvan's fibrillary chorea,TRUE,FALSE,Active +GARD:9767,Active,Orphanet,ORPHA:391673,Disorder,[Disease],Necrotizing enterocolitis,,"A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum.",,,,,,Necrotizing enterocolitis,TRUE,FALSE,Active +GARD:9768,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides et varioliformis acuta,TRUE,FALSE,Active +GARD:9769,Active,Orphanet,ORPHA:251656,Disorder,[Disease],Oligoastrocytoma,"[MOA, Mixed oligoastrocytoma]","Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.",,,,,,Oligoastrocytoma,TRUE,FALSE,Active +GARD:977,Legacy,GARD,,,,,,,,,,,,Brachydactyly tibial hypoplasia,TRUE,FALSE,Active +GARD:9770,Legacy,GARD,,,,,,,,,,,,Fuchs atrophia gyrata chorioideae et retina,TRUE,FALSE,Retired +GARD:9771,Legacy,GARD,,,,,,,,,,,,Clostridium sordellii infection,TRUE,FALSE,Active +GARD:9772,Legacy,GARD,,,,,,,,,,,,Stenotrophomonas maltophilia infection,TRUE,FALSE,Active +GARD:9773,Legacy,GARD,,,,,,,,,,,,Mycobacterium fortuitum,TRUE,FALSE,Active +GARD:9774,Legacy,GARD,,,,,,,,,,,,Pasteurella multocida infection,TRUE,FALSE,Active +GARD:9775,Active,Orphanet,ORPHA:79145,Disorder,[Disease],Dowling-Degos disease,[Reticular pigment anomaly of flexures],"A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.","[179850, 615674, 615696, 615327]",,,,,Dowling-Degos disease,TRUE,FALSE,Active +GARD:9777,Legacy,GARD,,,,,,,,,,,,Pulmonary arteriovenous malformation,TRUE,FALSE,Active +GARD:9778,Active,Orphanet,ORPHA:71279,Disorder,[Disease],CANOMAD syndrome,"[CANDA syndrome, Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome, Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies]","A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.",,,,,,CANOMAD syndrome,TRUE,FALSE,Active +GARD:9779,Legacy,GARD,,,,,,,,,,,,Aerobic actinomyces infection,TRUE,FALSE,Active +GARD:978,Active,Orphanet,ORPHA:93388,Disorder,[Malformation syndrome],Brachydactyly type A1,"[Brachydactyly, Farabee type]","A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","[616849, 615072, 112500, 607004]",,,,,Brachydactyly type A1,TRUE,FALSE,Active +GARD:9780,Legacy,GARD,,,,,,,,,,,,Paine syndrome,TRUE,FALSE,Active +GARD:9781,Active,Orphanet,ORPHA:1762,Disorder,[Malformation syndrome],Proximal Xq28 duplication syndrome,"[MECP2 duplication syndrome, X-linked intellectual disability syndrome, Lubs type]","A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.","[300815, 300260]",,,,,MECP2 duplication syndrome,TRUE,FALSE,Active +GARD:9783,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 2,TRUE,FALSE,Active +GARD:9784,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 3,TRUE,FALSE,Active +GARD:9785,Legacy,GARD,,,,,,,,,,,,Streptococcal Group B invasive disease,TRUE,FALSE,Active +GARD:9786,Legacy,GARD,,,,,,,,,,,,Group B strep disease in newborns,TRUE,FALSE,Active +GARD:9787,Active,Orphanet,ORPHA:90307,Disorder,[Disease],Parkes Weber syndrome,,,[608354],,,,,Parkes Weber syndrome,TRUE,FALSE,Active +GARD:9788,Legacy,GARD,,,,,,,,,,,,"Basal cell carcinoma, infundibulocystic",TRUE,FALSE,Active +GARD:9789,Active,Orphanet,ORPHA:2415,Group of disorders,[Category],Rare lymphatic malformation,"[LM, Lymphangioma]",,,,,,,Lymphatic malformations,TRUE,FALSE,Active +GARD:979,Active,Orphanet,ORPHA:93396,Disorder,[Malformation syndrome],Brachydactyly type A2,"[Brachydactyly, Mohr-Wriedt type]","A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.",[112600],,,,,Brachydactyly type A2,TRUE,FALSE,Active +GARD:9790,Legacy,GARD,,,,,,,,,,,,Anterior ischemic optic neuropathy,TRUE,FALSE,Active +GARD:9791,Active,Orphanet+OMIM,OMIM:600204,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 2",,"Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by {4:Jackson et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 ({132400}).",[600204],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 2,TRUE,FALSE,Active +GARD:9792,Active,Orphanet+OMIM,OMIM:600969,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 3",,"Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints ({2:Muragaki et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 ({132400}).",[600969],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 3,TRUE,FALSE,Active +GARD:9793,Active,Orphanet,ORPHA:93307,Disorder,[Disease],Multiple epiphyseal dysplasia type 4,"[Autosomal recessive multiple epiphyseal dysplasia, EDM4, MED4, Polyepiphyseal dysplasia type 4, rMED]","Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.",[226900],,,,,Multiple epiphyseal dysplasia 4,TRUE,FALSE,Active +GARD:9794,Active,Orphanet,ORPHA:93311,Disorder,[Disease],Multiple epiphyseal dysplasia type 5,"[BHMED, Bilateral hereditary micro-epiphyseal dysplasia, EDM5, MED5, Polyepiphyseal dysplasia type 5]","Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.",[607078],,,,,Multiple epiphyseal dysplasia 5,TRUE,FALSE,Active +GARD:9795,Active,Orphanet,ORPHA:34217,Disorder,[Disease],Naxos disease,"[KWWH type I, Keratoderma with woolly hair type I, Keratosis palmoplantaris with arrythmogenic cardiomyopathy, Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy, Palmoplantar keratoderma with arrythmogenic cardiomyopathy]","A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.",[601214],,,,,Naxos disease,TRUE,FALSE,Active +GARD:9796,Active,Orphanet,ORPHA:275517,Disorder,[Disease],Autoimmune lymphoproliferative syndrome with recurrent viral infections,"[ALPS with recurrent viral infections, CEDS, Caspase 8 deficiency syndrome]",A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.,[607271],,,,,Caspase-8 deficiency,TRUE,FALSE,Active +GARD:9797,Active,Orphanet,ORPHA:275523,Disorder,[Disease],Dianzani autoimmune lymphoproliferative disease,[DALD],"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.",[605233],,,,,Dianzani autoimmune lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:9798,Active,Orphanet,ORPHA:137888,Disorder,[Malformation syndrome],Auriculocondylar syndrome,[Question mark ear syndrome],"A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.","[602483, 612798, 615706, 614669]",,,,,Auriculo-condylar syndrome,TRUE,FALSE,Active +GARD:9799,Active,Orphanet,ORPHA:53296,Disorder,[Disease],Familial cutaneous collagenoma,,"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.",[115250],,,,,Familial cutaneous collagenoma,TRUE,FALSE,Active +GARD:98,Legacy,GARD,,,,,,,,,,,,Myasthenia gravis congenital,TRUE,FALSE,Retired +GARD:9801,Legacy,GARD,,,,,,,,,,,,Non-dystrophic myotonic disorders,TRUE,FALSE,Retired +GARD:9802,Active,Orphanet,ORPHA:79306,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 1,"[Byler disease, FIC1 deficiency, PFIC1]","PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.",[211600],,,,,Progressive familial intrahepatic cholestasis 1,TRUE,FALSE,Active +GARD:9803,Active,Orphanet,ORPHA:480483,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 4,"[PFIC4, TJP2 deficit]",,[615878],,,,,Progressive familial intrahepatic cholestasis-4,TRUE,FALSE,Active +GARD:9804,Active,Orphanet,ORPHA:69665,Disorder,[Disease],Intrahepatic cholestasis of pregnancy,"[Gravidic intrahepatic cholestasis, Pregnancy-related cholestasis, Recurrent intrahepatic cholestasis of pregnancy]","Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.","[614972, 147480]",,,,,Intrahepatic cholestasis of pregnancy,TRUE,FALSE,Active +GARD:9805,Legacy,GARD,,,,,,,,,,,,Morgellons,TRUE,FALSE,Active +GARD:9806,Active,Orphanet,ORPHA:493342,Disorder,[Disease],Vibratory urticaria,,"Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.",[125630],,,,,Vibratory urticaria,TRUE,FALSE,Active +GARD:9807,Legacy,GARD,,,,,,,,,,,,Dermatofibroma,FALSE,FALSE,Active +GARD:9808,Active,Orphanet,ORPHA:251612,Disorder,[Disease],Pilocytic astrocytoma,,"Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.",,,,,,Pilocytic astrocytoma,TRUE,FALSE,Active +GARD:9809,Active,Orphanet,ORPHA:86880,Disorder,[Disease],Enteropathy-associated T-cell lymphoma,"[EATL, ETTL, Enteropathy-type T-cell lymphoma, Intestinal T-cell lymphoma]","A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly involved. Patients typically present with abdominal pain, malabsorption or diarrhea, anorexia, weight loss, fatigue, nausea, vomiting, and sometimes intestinal perforation or hemorrhage. Prognosis is generally poor.",,,,,,Enteropathy-associated T-cell lymphoma,TRUE,FALSE,Active +GARD:9810,Active,Orphanet,ORPHA:156731,Disorder,[Disease],"Dyssegmental dysplasia, Rolland-Desbuquois type",,,[224400],,,,,Dyssegmental dysplasia Rolland-Desbuquois type,TRUE,FALSE,Active +GARD:9811,Active,Orphanet,ORPHA:3044,Disorder,[Malformation syndrome],Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.",[249599],,,,,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,TRUE,FALSE,Active +GARD:9812,Active,Orphanet,ORPHA:86872,Disorder,[Disease],T-cell large granular lymphocyte leukemia,"[Proliferation of large granular lymphocytes, T-LGL, T-cell LGL leukemia]",T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.,,,,,,T-cell large granular lymphocyte leukemia,TRUE,FALSE,Active +GARD:9813,Active,Orphanet,ORPHA:79301,Disorder,[Disease],Congenital bile acid synthesis defect type 1,"[3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, BASD1]","Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.",[607765],,,,,"Congenital bile acid synthesis defect, type 1",TRUE,FALSE,Active +GARD:9814,Active,Orphanet+OMIM,OMIM:609428,Subtype of disorder,[Disease subtype],Tukel syndrome,,,[609428],[45358],[Congenital fibrosis of extraocular muscles],[12590],,Tukel syndrome,TRUE,FALSE,Active +GARD:9815,Legacy,GARD,,,,,,,,,,,,Paragonimiasis,TRUE,FALSE,Active +GARD:9817,Active,Orphanet,ORPHA:98808,Disorder,[Disease],Autosomal dominant dopa-responsive dystonia,"[Autosomal dominant Segawa syndrome, DYT5a, GTPCH1-deficient DRD, GTPCH1-deficient dopa-responsive dystonia, HPD with marked diurnal fluctuation, Hereditary progressive dystonia with marked diurnal fluctuation]",A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.,[128230],,,,,Dopa-responsive dystonia,TRUE,FALSE,Active +GARD:9818,Active,Orphanet,ORPHA:79107,Disorder,[Malformation syndrome],Developmental malformations-deafness-dystonia syndrome,[Developmental malformations-hearing loss-dystonia syndrome],"Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.",[607371],,,,,Juvenile-onset dystonia,TRUE,FALSE,Active +GARD:9819,Legacy,GARD,,,,,,,,,,,,"Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp",TRUE,FALSE,Retired +GARD:982,Legacy,GARD,,,,,,,,,,,,Brachydactyly type A5,TRUE,FALSE,Active +GARD:9820,Active,Orphanet,ORPHA:464343,Disorder,[Disease],Catastrophic antiphospholipid syndrome,"[CAPS, Catastrophic APS]","A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition occurs in a small subset of patients with antiphospholipid syndrome, often precipitated by infection, trauma, or surgery.",,,,,,Catastrophic antiphospholipid syndrome,TRUE,FALSE,Active +GARD:9821,Active,Orphanet,ORPHA:63454,Group of disorders,[Category],Pattern dystrophy,[Patterned dystrophy of the retinal pigment epithelium],,,,,,,Pattern dystrophy,TRUE,FALSE,Active +GARD:9822,Legacy,GARD,,,,,,,,,,,,Anal sphincter dysplasia,TRUE,FALSE,Active +GARD:9823,Legacy,GARD,,,,,,,,,,,,Acardia,TRUE,FALSE,Active +GARD:9824,Legacy,GARD,,,,,,,,,,,,Multifocal choroiditis,TRUE,FALSE,Active +GARD:9826,Active,Orphanet,ORPHA:79318,Disorder,[Disease],PMM2-CDG,"[CDG syndrome type Ia, CDG-Ia, CDG1A, Carbohydrate deficient glycoprotein syndrome type Ia, Congenital disorder of glycosylation type 1a, Congenital disorder of glycosylation type Ia, Phosphomannomutase 2 deficiency]","PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.",[212065],,,,,PMM2-CDG (CDG-Ia),TRUE,FALSE,Active +GARD:9827,Active,Orphanet,ORPHA:79321,Disorder,[Disease],ALG3-CDG,"[CDG syndrome type Id, CDG-Id, CDG1D, Carbohydrate deficient glycoprotein syndrome type Id, Congenital disorder of glycosylation type 1d, Congenital disorder of glycosylation type Id, Mannosyltransferase 6 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).",[601110],,,,,ALG3-CDG (CDG-Id),TRUE,FALSE,Active +GARD:9828,Active,Orphanet,ORPHA:79329,Disorder,[Disease],MGAT2-CDG,"[CDG syndrome type IIa, CDG-IIa, CDG2A, Carbohydrate deficient glycoprotein syndrome type IIa, Congenital disorder of glycosylation type 2a, Congenital disorder of glycosylation type IIa, N-acetylglucosaminyltransferase 2 deficiency]","MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).",[212066],,,,,MGAT2-CDG (CDG-IIa),TRUE,FALSE,Active +GARD:9829,Active,Orphanet,ORPHA:79320,Disorder,[Disease],ALG6-CDG,"[CDG syndrome type Ic, CDG-Ic, CDG1C, Carbohydrate deficient glycoprotein syndrome type Ic, Congenital disorder of glycosylation type 1c, Congenital disorder of glycosylation type Ic, Glucosyltransferase 1 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).",[603147],,,,,ALG6-CDG (CDG-Ic),TRUE,FALSE,Active +GARD:983,Active,Orphanet,ORPHA:93382,Disorder,[Malformation syndrome],Brachydactyly type A6,[Osebold-Remondini syndrome],"Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.",[112910],,,,,Brachydactyly type A6,TRUE,FALSE,Active +GARD:9830,Active,Orphanet,ORPHA:79319,Disorder,[Disease],MPI-CDG,"[CDG syndrome type Ib, CDG-Ib, CDG1B, Carbohydrate deficient glycoprotein syndrome type Ib, Congenital disorder of glycosylation type 1b, Congenital disorder of glycosylation type Ib, Phosphomannose isomerase deficiency]","MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).",[602579],,,,,MPI-CDG (CDG-Ib),TRUE,FALSE,Active +GARD:9831,Active,Orphanet,ORPHA:79322,Disorder,[Disease],DPM1-CDG,"[CDG syndrome type Ie, CDG-Ie, CDG1E, Carbohydrate deficient glycoprotein syndrome type Ie, Congenital disorder of glycosylation type 1e, Congenital disorder of glycosylation type Ie, Dol-P-mannosyltransferase deficiency]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.",[608799],,,,,DPM1-CDG (CDG-Ie),TRUE,FALSE,Active +GARD:9832,Active,Orphanet,ORPHA:79323,Disorder,[Disease],MPDU1-CDG,"[CDG syndrome type If, CDG-If, CDG1F, Carbohydrate deficient glycoprotein syndrome type If, Congenital disorder of glycosylation type 1f, Congenital disorder of glycosylation type If]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.",[609180],,,,,MPDU1-CDG (CDG-If),TRUE,FALSE,Active +GARD:9833,Active,Orphanet,ORPHA:79324,Disorder,[Disease],ALG12-CDG,"[CDG syndrome type Ig, CDG-Ig, CDG1G, Carbohydrate deficient glycoprotein syndrome type Ig, Congenital disorder of glycosylation type 1g, Congenital disorder of glycosylation type Ig, Mannosyltransferase 8 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).",[607143],,,,,ALG12-CDG (CDG-Ig),TRUE,FALSE,Active +GARD:9834,Active,Orphanet,ORPHA:79325,Disorder,[Disease],ALG8-CDG,"[CDG syndrome type Ih, CDG-Ih, CDG1H, Carbohydrate deficient glycoprotein syndrome type Ih, Congenital disorder of glycosylation type 1h, Congenital disorder of glycosylation type Ih, Glucosyltransferase 2 deficiency]","A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.",[608104],,,,,ALG8-CDG (CDG-Ih),TRUE,FALSE,Active +GARD:9835,Active,Orphanet,ORPHA:96170,Disorder,[Malformation syndrome],Emanuel syndrome,"[Der(22)t(11;22) syndrome, Supernumerary der(22) syndrome]","A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.",[609029],,,,,Emanuel syndrome,TRUE,FALSE,Active +GARD:9836,Active,Orphanet,ORPHA:79326,Disorder,[Disease],ALG2-CDG,"[CDG syndrome type Ii, CDG-Ii, CDG1I, Carbohydrate deficient glycoprotein syndrome type Ii, Congenital disorder of glycosylation type 1i, Congenital disorder of glycosylation type Ii, Mannosyltransferase 2 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.",[607906],,,,,ALG2-CDG (CDG-Ii),TRUE,FALSE,Active +GARD:9837,Active,Orphanet,ORPHA:86309,Disorder,[Disease],DPAGT1-CDG,"[CDG syndrome type Ij, CDG-Ij, CDG1J, Carbohydrate deficient glycoprotein syndrome type Ij, Congenital disorder of glycosylation type 1j, Congenital disorder of glycosylation type Ij, Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency]","DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).",[608093],,,,,DPAGT1-CDG (CDG-Ij),TRUE,FALSE,Active +GARD:9838,Active,Orphanet,ORPHA:79327,Disorder,[Disease],ALG1-CDG,"[CDG syndrome type Ik, CDG-Ik, CDG1K, Carbohydrate deficient glycoprotein syndrome type Ik, Congenital disorder of glycosylation type 1k, Congenital disorder of glycosylation type Ik, Mannosyltransferase 1 deficiency]","A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).",[608540],,,,,ALG1-CDG (CDG-Ik),TRUE,FALSE,Active +GARD:9839,Active,Orphanet,ORPHA:79328,Disorder,[Disease],ALG9-CDG,"[CDG syndrome type IL, CDG-IL, CDG1L, Carbohydrate deficient glycoprotein syndrome type IL, Congenital disorder of glycosylation type 1L, Mannosyltransferase 7-9 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).","[263210, 608776]",,,,,ALG9-CDG (CDG-IL),TRUE,FALSE,Active +GARD:984,Active,Orphanet,ORPHA:93397,Disorder,[Malformation syndrome],Brachydactyly type A7,"[Brachydactyly, Smorgasbord type]","A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.",,,,,,Brachydactyly type A7,TRUE,FALSE,Active +GARD:9840,Legacy,GARD,,,,,,,,,,,,Congenital disorder of glycosylation type I/IIX,TRUE,FALSE,Active +GARD:9841,Active,Orphanet,ORPHA:79332,Disorder,[Disease],B4GALT1-CDG,"[Beta-1,4-galactosyltransferase deficiency, CDG syndrome type IId, CDG-IId, CDG2D, Carbohydrate deficient glycoprotein syndrome type IId, Congenital disorder of glycosylation type 2d, Congenital disorder of glycosylation type IId]","B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.",[607091],,,,,B4GALT1-CDG (CDG-IId),TRUE,FALSE,Active +GARD:9842,Active,Orphanet,ORPHA:79333,Disorder,[Disease],COG7-CDG,"[CDG syndrome type IIe, CDG-IIe, CDG2E, Carbohydrate deficient glycoprotein syndrome type IIe, Congenital disorder of glycosylation type 2e, Congenital disorder of glycosylation type IIe]","COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.",[608779],,,,,COG7-CDG (CDG-IIe),TRUE,FALSE,Active +GARD:9843,Active,Orphanet,ORPHA:90042,Disorder,[Disease],Primary familial polycythemia,"[Congenital erythrocytosis due to erythropoietin receptor mutation, Congenital polycythemia due to erythropoietin receptor mutation, Familial erythrocytosis, PFCP, Primary congenital erythrocytosis, Primary familial and congenital polycythemia]",Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.,[133100],,,,,Primary familial and congenital polycythemia,TRUE,FALSE,Active +GARD:9844,Active,Orphanet,ORPHA:2637,Disorder,[Malformation syndrome],Microcephalic osteodysplastic primordial dwarfism type II,"[MOPD type II, Majewski osteodysplastic primordial dwarfism type II]","A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.",[210720],,,,,Microcephalic osteodysplastic primordial dwarfism type 2,TRUE,FALSE,Active +GARD:9846,Active,Orphanet,ORPHA:168796,Disorder,[Malformation syndrome],"Heart-hand syndrome, Slovenian type","[Atriodigital dysplasia, Slovenian type, Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome]","Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.",[610140],,,,,"Heart-hand syndrome, Slovenian type",TRUE,FALSE,Active +GARD:9847,Active,Orphanet,ORPHA:1350,Disorder,[Malformation syndrome],Heart-hand syndrome type 2,"[Atriodigital dysplasia type 2, Tabatznik syndrome]","Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).",,,,,,Tabatznik syndrome,TRUE,FALSE,Active +GARD:9848,Active,Orphanet,ORPHA:71278,Disorder,[Disease],Congenital brain dysgenesis due to glutamine synthetase deficiency,"[Inherited GS deficiency, Inherited glutamine synthetase deficiency]","A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.",[610015],,,,,"Glutamine deficiency, congenital",TRUE,FALSE,Active +GARD:9849,Active,Orphanet,ORPHA:66629,Disorder,[Malformation syndrome],Goldberg-Shprintzen megacolon syndrome,"[GOSHS, Megacolon-microcephaly syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).",[609460],,,,,Goldberg-Shprintzen megacolon syndrome,TRUE,FALSE,Active +GARD:985,Active,Orphanet,ORPHA:93383,Disorder,[Malformation syndrome],Brachydactyly type B,,"A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.","[113000, 611377]",,,,,Brachydactyly type B,TRUE,FALSE,Active +GARD:9850,Active,Orphanet,ORPHA:3164,Disorder,[Malformation syndrome],"Omphalocele syndrome, Shprintzen-Goldberg type",,"Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.",[182210],,,,,Shprintzen omphalocele syndrome,TRUE,FALSE,Active +GARD:9851,Legacy,GARD,,,,,,,,,,,,Episodic ataxia,TRUE,FALSE,Active +GARD:9852,Legacy,GARD,,,,,,,,,,,,Nondystrophic myotonia,TRUE,FALSE,Active +GARD:9853,Legacy,GARD,,,,,,,,,,,,Inherited bone marrow failure syndromes,FALSE,FALSE,Active +GARD:9856,Legacy,GARD,,,,,,,,,,,,Pediatric Crohn's disease,TRUE,FALSE,Active +GARD:9857,Legacy,GARD,,,,,,,,,,,,Pediatric ulcerative colitis,TRUE,FALSE,Active +GARD:9858,Legacy,GARD,,,,,,,,,,,,Catamenial pneumothorax,TRUE,FALSE,Active +GARD:986,Active,Orphanet,ORPHA:93384,Disorder,[Malformation syndrome],Brachydactyly type C,,"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.",[113100],,,,,Brachydactyly type C,TRUE,FALSE,Active +GARD:9860,Legacy,GARD,,,,,,,,,,,,"Amelogenesis imperfecta hypoplastic type, IG",TRUE,FALSE,Active +GARD:9861,Legacy,GARD,,,,,,,,,,,,Trichoscyphodysplasia,TRUE,FALSE,Active +GARD:9862,Legacy,GARD,,,,,,,,,,,,Cyclic thrombocytopenia,TRUE,FALSE,Active +GARD:9863,Active,Orphanet+OMIM,OMIM:186400,Subtype of disorder,[Malformation syndrome subtype],"Synostoses, tarsal, carpal, and digital",[Calcaneonavicular coalition],,[186400],[1412],[Tarsal-carpal coalition syndrome],[9225],,"Synostoses, tarsal, carpal, and digital",TRUE,FALSE,Active +GARD:9866,Active,Orphanet,ORPHA:93360,Disorder,[Disease],Spondyloepimetaphyseal dysplasia with multiple dislocations,"[SEMD-MD, SEMDJL2, Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, Spondyloepimetaphyseal dysplasia with joint laxity type 2, Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type]","Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.",[603546],,,,,Spondyloepimetaphyseal dysplasia with multiple dislocations,TRUE,FALSE,Active +GARD:9867,Active,Orphanet,ORPHA:98763,Disorder,[Disease],Spinocerebellar ataxia type 14,[SCA14],"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.",[605361],,,,,Spinocerebellar ataxia 14,TRUE,FALSE,Active +GARD:987,Active,Orphanet,ORPHA:93387,Disorder,[Malformation syndrome],Brachydactyly type E,,"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.","[113300, 613382]",,,,,Brachydactyly type E,TRUE,FALSE,Active +GARD:9870,Active,Orphanet,ORPHA:71212,Disorder,[Disease],Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,"[Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency, Hyperinsulinism due to SCHAD deficiency, Hyperinsulinism due to glutamodehydrogenase deficiency, SCHAD deficiency]","A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.","[609975, 231530]",,,,,3-alpha hydroxyacyl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:9872,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia pyridoxine-responsive autosomal recessive,TRUE,FALSE,Active +GARD:9873,Active,Orphanet,ORPHA:2789,Disorder,[Malformation syndrome],Lateral meningocele syndrome,[Lehman syndrome],"A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.",[130720],,,,,Lateral meningocele syndrome,TRUE,FALSE,Active +GARD:9874,Active,Orphanet+OMIM,OMIM:608030,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia,,,[608030],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,Amyotrophic lateral sclerosis type 6,TRUE,FALSE,Active +GARD:9876,Active,Orphanet+OMIM,OMIM:132900,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 4","[aortic aneurysm/aortic dissection and patent ductus arteriosus, Faa4]",,[132900],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,"Aortic aneurysm, familial thoracic 4",TRUE,FALSE,Active +GARD:9878,Legacy,GARD,,,,,,,,,,,,Colloid cysts of third ventricle,TRUE,FALSE,Active +GARD:9879,Active,Orphanet,ORPHA:2639,Disorder,[Malformation syndrome],Fibular aplasia-complex brachydactyly syndrome,[Du Pan syndrome],A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).,[228900],,,,,Fibular hypoplasia and complex brachydactyly,TRUE,FALSE,Active +GARD:988,Legacy,GARD,,,,,,,,,,,,Brachymesomelia renal syndrome,TRUE,FALSE,Active +GARD:9882,Active,Orphanet,ORPHA:168588,Disorder,[Malformation syndrome],Hyperandrogenism due to cortisone reductase deficiency,[11-beta-hydroxysteroid dehydrogenase deficiency type 1],"A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.","[614662, 604931]",,,,,Cortisone reductase deficiency,TRUE,FALSE,Active +GARD:9884,Active,Orphanet,ORPHA:86834,Disorder,[Disease],Juvenile myelomonocytic leukemia,"[JMML, Juvenile chronic myelomonocytic leukemia]","A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.",[607785],,,,,Juvenile myelomonocytic leukemia,TRUE,FALSE,Active +GARD:9885,Active,Orphanet+OMIM,OMIM:609942,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 3,,"Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature (summary by {4:Shah et al., 1999}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[609942],[648],[Noonan syndrome],[10955],,Noonan syndrome 3,TRUE,FALSE,Active +GARD:9886,Active,Orphanet,ORPHA:88621,Disorder,[Disease],Ichthyosis-prematurity syndrome,"[Congenital ichthyosis type 4, IPS]","A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.",[608649],,,,,Ichthyosis prematurity syndrome,TRUE,FALSE,Active +GARD:9887,Active,Orphanet,ORPHA:251287,Disorder,[Disease],Benign concentric annular macular dystrophy,,Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.,[153870],,,,,"Macular dystrophy, concentric annular",TRUE,FALSE,Active +GARD:9888,Active,Orphanet,ORPHA:79246,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase phosphatase deficiency,[PDH phosphatase deficiency],"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.",[608782],,,,,Pyruvate dehydrogenase phosphatase deficiency,TRUE,FALSE,Active +GARD:989,Legacy,GARD,,,,,,,,,,,,Brachymesophalangy type 2,TRUE,FALSE,Active +GARD:9890,Active,Orphanet,ORPHA:98673,Disorder,[Disease],"Autosomal dominant optic atrophy, classic form","[Autosomal dominant optic atrophy, Kjer type, Kjer optic atrophy, Optic atrophy type 1]","A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.","[610708, 618977, 605293, 165500]",,,,,Optic atrophy 1,TRUE,FALSE,Active +GARD:9891,Legacy,GARD,,,,,,,,,,,,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,TRUE,FALSE,Active +GARD:9892,Active,Orphanet+OMIM,OMIM:610019,Subtype of disorder,[Clinical subtype],Cataract 18,"[Cataract, autosomal recessive congenital 2]","Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'",[610019],[98991],[Early-onset nuclear cataract],[16887],,"Cataract, autosomal recessive congenital 2",TRUE,FALSE,Active +GARD:9893,Legacy,GARD,,,,,,,,,,,,"Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia",TRUE,FALSE,Active +GARD:9895,Active,Orphanet+OMIM,OMIM:616313,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 2a, slow-channel",,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616313],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,Slow-channel congenital myasthenic syndrome,TRUE,FALSE,Active +GARD:9896,Legacy,GARD,,,,,,,,,,,,"Myopathy, limb-girdle, with bone fragility",TRUE,FALSE,Active +GARD:9897,Legacy,GARD,,,,,,,,,,,,Optic atrophy 1 and deafness,TRUE,FALSE,Retired +GARD:9898,Active,Orphanet,ORPHA:88628,Disorder,[Disease],Posterior column ataxia-retinitis pigmentosa syndrome,"[Autosomal recessive posterior column ataxia and retinitis pigmentosa, PCARP]",Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.,[609033],,,,,Posterior column ataxia with retinitis pigmentosa,TRUE,FALSE,Active +GARD:9899,Legacy,GARD,,,,,,,,,,,,"Hodgkin disease, X-linked pseudoautosomal",TRUE,FALSE,Active +GARD:990,Active,Orphanet,ORPHA:93394,Disorder,[Malformation syndrome],Brachydactyly type A4,"[Brachydactyly, Temtamy type, Brachymesophalangy II and V]","A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.",[112800],,,,,Brachydactyly type A4,TRUE,FALSE,Active +GARD:9900,Active,Orphanet,ORPHA:2414,Disorder,[Disease],Congenital pulmonary lymphangiectasia,[Pulmonary lymphangiomatosis],"A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.",[265300],,,,,Congenital pulmonary lymphangiectasia,TRUE,FALSE,Active +GARD:9901,Active,Orphanet+OMIM,OMIM:600376,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 2",,,[600376],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 2,TRUE,FALSE,Active +GARD:9902,Active,Orphanet+OMIM,OMIM:601101,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 3",,"For a general phenotypic description and a discussion of genetic heterogeneity of HHT, see {187300}.",[601101],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 3,TRUE,FALSE,Active +GARD:9903,Active,Orphanet,ORPHA:93338,Disorder,[Morphological anomaly],Polysyndactyly,"[PPD4, Preaxial polydactyly type 4]","Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.",[174700],,,,,Preaxial polydactyly type 4,TRUE,FALSE,Active +GARD:9904,Active,Orphanet,ORPHA:75325,Disorder,[Disease],Osteosclerosis-ichthyosis-premature ovarian failure syndrome,[Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome],"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.",[609993],,,,,Osteosclerosis with ichthyosis and premature ovarian failure,TRUE,FALSE,Active +GARD:9905,Active,Orphanet,ORPHA:144,Disorder,[Disease],Lynch syndrome,,"A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.","[614337, 120435, 609310, 614331, 614385, 614350, 613244]",,,,,Lynch syndrome,FALSE,FALSE,Active +GARD:9907,Draft,GARD,,Subtype of disorder,[Disease],Amyopathic dermatomyositis,"[ADM, Dermatomyositis sine myositis]","Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with Amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease.",,[221],[Dermatomyositis],[6263],,Amyopathic dermatomyositis,TRUE,FALSE,Active +GARD:9908,Legacy,GARD,,,,,,,,,,,,Cryofibrinogenemia,TRUE,FALSE,Active +GARD:9909,Active,Orphanet+OMIM,OMIM:601680,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 2b1","[freeman-sheldon syndrome variant, Arthrogryposis multiplex congenita, distal, type 2b, arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities, sheldon-hall syndrome]","Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features ({1:Bamshad et al., 1996}). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by {2:Bamshad et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120}).",[601680],[1147],[Sheldon-Hall syndrome],[16556],,Sheldon-Hall syndrome,TRUE,FALSE,Active +GARD:9910,Active,Orphanet,ORPHA:158687,Disorder,[Disease],Lethal acantholytic erosive disorder,,"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.",[609638],,,,,"Epidermolysis bullosa, lethal acantholytic",TRUE,FALSE,Active +GARD:9911,Active,Orphanet+OMIM,OMIM:609955,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 3",,"For phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300}).",[609955],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 3",TRUE,FALSE,Active +GARD:9912,Active,Orphanet,ORPHA:2382,Disorder,[Disease],Lennox-Gastaut syndrome,,"A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.","[618141, 617113, 616346, 615369]",,,,,Lennox-Gastaut syndrome,TRUE,FALSE,Active +GARD:9913,Legacy,GARD,,,,,,,,,,,,"Properdin deficiency, X-linked",TRUE,FALSE,Active +GARD:9914,Active,Orphanet+OMIM,OMIM:601894,Subtype of disorder,[Disease subtype],Glomerulopathy with fibronectin deposits 2,"[fibronectin glomerulopathy, Glomerular nephritis, familial, with fibronectin deposits]","Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin ({2:Castelletti et al., 2008}).\n\nFor a discussion of genetic heterogeneity of GFND, see {137950}.",[601894],[84090],[Fibronectin glomerulopathy],[15019],,Glomerulopathy with fibronectin deposits 2,TRUE,FALSE,Active +GARD:9915,Legacy,GARD,,,,,,,,,,,,Leucine-sensitive hypoglycemia of infancy,TRUE,FALSE,Active +GARD:9916,Active,Orphanet+OMIM,OMIM:610017,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 2,,"Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by {2:Dawson et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 ({186500}).",[610017],[3237],[Multiple synostoses syndrome],[3836],,Multiple synostoses syndrome 2,TRUE,FALSE,Active +GARD:9917,Legacy,GARD,,,,,,,,,,,,Immunodeficiency without anhidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:9918,Active,Orphanet+OMIM,OMIM:609941,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 51",,,[609941],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, autosomal recessive 51",TRUE,FALSE,Active +GARD:9919,Active,Orphanet+OMIM,OMIM:609952,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 55",,,[609952],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, autosomal recessive 55",TRUE,FALSE,Active +GARD:992,Active,Orphanet,ORPHA:2713,Disorder,[Malformation syndrome],Oculoosteocutaneous syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.",[211370],,,,,Brachymetapody anodontia hypotrichosis albinoidism,TRUE,FALSE,Active +GARD:9920,Active,Orphanet,ORPHA:298,Disorder,[Disease],Mitochondrial neurogastrointestinal encephalomyopathy,[MNGIE],"Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.","[613662, 612075, 603041]",,,,,Mitochondrial neurogastrointestinal encephalopathy syndrome,TRUE,FALSE,Active +GARD:9921,Active,Orphanet,ORPHA:2770,Disorder,[Malformation syndrome],Nasu-Hakola disease,"[NHD, PLO-SL, PLOSL, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy]","Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.","[618193, 221770]",,,,,Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy,TRUE,FALSE,Active +GARD:9922,Active,Orphanet+OMIM,OMIM:603553,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 2","[hlh2, Hplh2]","Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; {147570}) and TNF-alpha ({191160}), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by {4:Dufourcq-Lagelouse et al., 1999}, {9:Stepp et al., 1999}, and {8:Molleran Lee et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.",[603553],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 2",TRUE,FALSE,Retired +GARD:9923,Legacy,GARD,,,,,,,,,,,,FG syndrome 2,TRUE,FALSE,Active +GARD:9924,Legacy,GARD,,,,,,,,,,,,FG syndrome 3,TRUE,FALSE,Active +GARD:9925,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability with or without nystagmus,TRUE,FALSE,Active +GARD:9927,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemic hypoglycemia familial 2,TRUE,FALSE,Active +GARD:9928,Active,Orphanet+OMIM,OMIM:608898,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 3","[hlh3, Hplh3]","Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin ({170280})-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.",[608898],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 3",TRUE,FALSE,Retired +GARD:9929,Active,Orphanet+OMIM,OMIM:603552,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 4","[Hplh4, hlh4]","Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; {147730}). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by {2:Muller et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.",[603552],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 4",TRUE,FALSE,Retired +GARD:9930,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemic hypoglycemia familial 3,TRUE,FALSE,Active +GARD:9931,Active,Orphanet,ORPHA:35878,Disorder,[Disease],Hyperinsulinism-hyperammonemia syndrome,[HI/HA syndrome],"Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.",[606762],,,,,Hyperinsulinism-hyperammonemia syndrome,TRUE,FALSE,Active +GARD:9932,Active,Orphanet,ORPHA:165991,Disorder,[Disease],Exercise-induced hyperinsulinism,"[EIHI, Exercise-induced hyperinsulinemic hypoglycemia, Hyperinsulinism due to SLC16A1 deficiency, Hyperinsulinism due to monocarboxylate transporter 1 deficiency]","A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.",[610021],,,,,Exercise-induced hyperinsulinemic hypoglycemia,TRUE,FALSE,Active +GARD:9933,Active,Orphanet+OMIM,OMIM:601544,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 3a",,,[601544],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 3",TRUE,FALSE,Active +GARD:9934,Active,Orphanet+OMIM,OMIM:609965,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 53",,,[609965],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 53",TRUE,FALSE,Active +GARD:9935,Active,Orphanet+OMIM,OMIM:609946,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 47",,,[609946],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, neurosensory, autosomal recessive 47",TRUE,FALSE,Active +GARD:9936,Active,Orphanet,ORPHA:98813,Disorder,[Disease],Hypohidrotic ectodermal dysplasia with immunodeficiency,"[Anhidrotic ectodermal dysplasia with immunodeficiency, EDA-ID, HED-ID]","A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.","[300291, 612132]",,,,,Hypohidrotic ectodermal dysplasia with immune deficiency,TRUE,FALSE,Active +GARD:9937,Active,Orphanet+OMIM,OMIM:608908,Subtype of disorder,[Disease subtype],Myopia 6,,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.",[608908],[98619],[Rare isolated myopia],[16859],,Myopia 6,TRUE,FALSE,Active +GARD:9939,Legacy,GARD,,,,,,,,,,,,"Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features",TRUE,FALSE,Active +GARD:994,Active,Orphanet,ORPHA:263482,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Maroteaux type",[Pseudo-Morquio syndrome type 2],"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.",[184095],,,,,Spondyloepiphyseal dysplasia Maroteaux type,TRUE,FALSE,Active +GARD:9940,Active,Orphanet,ORPHA:66631,Disorder,[Disease],CEDNIK syndrome,[Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome],"A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.",[609528],,,,,"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",TRUE,FALSE,Active +GARD:9941,Active,Orphanet,ORPHA:269,Disorder,[Disease],Facioscapulohumeral dystrophy,"[FSH dystrophy, FSHD, Facioscapulohumeral muscular dystrophy, Facioscapulohumeral myopathy, Landouzy-Dejerine dystrophy, Landouzy-Dejerine myopathy]","A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.","[158900, 600416, 158901]",,,,,Facioscapulohumeral muscular dystrophy,TRUE,FALSE,Active +GARD:9942,Legacy,GARD,,,,,,,,,,,,"Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands",TRUE,FALSE,Active +GARD:9943,Active,Orphanet+OMIM,OMIM:301200,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ie","[Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1, amelogenesis imperfecta, hypomaturation type, with snow-capped teeth, enamel hypoplasia, x-linked, amelogenesis imperfecta, x-linked 1]","Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({22:Witkop, 1988}).",[301200],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1,TRUE,FALSE,Active +GARD:9944,Active,Orphanet+OMIM,OMIM:301201,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2",,"For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see {301200}.",[301201],[100031],[Hypoplastic amelogenesis imperfecta],[645],,"Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2",TRUE,FALSE,Active +GARD:9945,Legacy,GARD,,,,,,,,,,,,"Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features",TRUE,FALSE,Retired +GARD:9946,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis multiplex with deafness, inguinal hernias, and early death",TRUE,FALSE,Active +GARD:9947,Active,Orphanet,ORPHA:137831,Disorder,[Disease],X-linked intellectual disability-cerebellar hypoplasia syndrome,"[OPHN1 syndrome, Oligophrenin-1 syndrome]","X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.",[300486],,,,,Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance,TRUE,FALSE,Retired +GARD:9948,Legacy,GARD,,,,,,,,,,,,Beriberi,TRUE,FALSE,Active +GARD:9949,Legacy,GARD,,,,,,,,,,,,Citrulline transport defect,TRUE,FALSE,Active +GARD:995,Active,Orphanet+OMIM,OMIM:271530,Subtype of disorder,[Malformation syndrome subtype],"Brachyolmia type 1, hobaek type","[Brachyolmia, recessive type of hobaek, spondylodysplasia with pure brachyolmia]","{9:Rock et al. (2008)} provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; {271630}) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; {613678}), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; {113500}) is an autosomal dominant form, caused by mutation in the TRPV4 gene ({605427}), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; {612847}) is an autosomal recessive form, caused by mutation in the PAPSS2 gene ({603005}), with mild epiphyseal and metaphyseal changes.",[271530],[448242],[Autosomal recessive brachyolmia],[13171],,Brachyolmia type 1 Hobaek type,TRUE,FALSE,Retired +GARD:9950,Active,Orphanet,ORPHA:101108,Disorder,[Disease],Spinocerebellar ataxia type 23,[SCA23],"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.",[610245],,,,,Spinocerebellar ataxia 23,TRUE,FALSE,Active +GARD:9951,Active,Orphanet,ORPHA:101109,Disorder,[Disease],Spinocerebellar ataxia type 28,[SCA28],"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.",[610246],,,,,Spinocerebellar ataxia 28,TRUE,FALSE,Active +GARD:9952,Active,Orphanet,ORPHA:83461,Disorder,[Malformation syndrome],Congenital primary aphakia,,A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.,[610256],,,,,Congenital primary aphakia,TRUE,FALSE,Active +GARD:9953,Active,Orphanet,ORPHA:251627,Disorder,[Disease],Oligodendroglioma,,"A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.","[137800, 616568]",,,,,Oligodendroglioma,TRUE,FALSE,Active +GARD:9956,Legacy,GARD,,,,,,,,,,,,Hutterite cerebroosteonephrodysplasia syndrome,TRUE,FALSE,Active +GARD:9957,Legacy,GARD,,,,,,,,,,,,"Hypodontia, X-linked",TRUE,FALSE,Active +GARD:9958,Legacy,GARD,,,,,,,,,,,,Tiglic acidemia,TRUE,FALSE,Active +GARD:9959,Active,Orphanet,ORPHA:83476,Disorder,[Disease],West-Nile encephalitis,[West-Nile fever],"An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.",[610379],,,,,West Nile virus encephalitis,TRUE,FALSE,Active +GARD:9960,Legacy,GARD,,,,,,,,,,,,Superficial spreading melanoma,TRUE,FALSE,Active +GARD:9961,Legacy,GARD,,,,,,,,,,,,Nodular melanoma,TRUE,FALSE,Active +GARD:9962,Legacy,GARD,,,,,,,,,,,,Lentigo maligna melanoma,TRUE,FALSE,Active +GARD:9963,Active,Orphanet,ORPHA:98764,Disorder,[Disease],Spinocerebellar ataxia type 27,[SCA27],"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.",[609307],,,,,Spinocerebellar ataxia 27,TRUE,FALSE,Active +GARD:9964,Active,Orphanet,ORPHA:97234,Disorder,[Disease],Glycogen storage disease due to phosphoglycerate mutase deficiency,"[GSD due to phosphoglycerate mutase deficiency, GSD type 10, Glycogenosis due to phosphoglycerate mutase deficiency, Muscle phosphoglycerate mutase deficiency, Myopathy due to phosphoglycerate mutase deficiency]","Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).",[261670],,,,,Phosphoglycerate mutase deficiency,TRUE,FALSE,Active +GARD:9965,Active,Orphanet,ORPHA:83639,Disorder,[Disease],Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,"[Congenital disorder of glycosylation due to PIGM deficiency, PIGM-CDG]","A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.",[610293],,,,,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,TRUE,FALSE,Active +GARD:9966,Active,Orphanet+OMIM,OMIM:604356,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 2,,"Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by {7:Miyake et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800}).",[604356],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 2,TRUE,FALSE,Retired +GARD:9967,Legacy,GARD,,,,,,,,,,,,Sertoli-leydig cell tumors,TRUE,FALSE,Active +GARD:9968,Legacy,GARD,,,,,,,,,,,,"Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa",TRUE,FALSE,Active +GARD:9969,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 19,TRUE,FALSE,Retired +GARD:9970,Active,Orphanet,ORPHA:98765,Disorder,[Disease],Spinocerebellar ataxia type 4,[SCA4],Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.,[600223],,,,,Spinocerebellar ataxia 4,TRUE,FALSE,Active +GARD:9971,Active,Orphanet,ORPHA:95433,Disorder,[Disease],Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,"[Autosomal recessive spinocerebellar ataxia type 3, Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, SCABD, SCAR3]",A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.,[271250],,,,,Spinocerebellar ataxia autosomal recessive 3,TRUE,FALSE,Active +GARD:9972,Legacy,GARD,,,,,,,,,,,,Congenital absence of the sternocleidomastoid muscle,TRUE,FALSE,Active +GARD:9973,Legacy,GARD,,,,,,,,,,,,Splenic infarcts,TRUE,FALSE,Active +GARD:9974,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the breast,TRUE,FALSE,Active +GARD:9975,Active,Orphanet,ORPHA:217012,Disorder,[Disease],Spinocerebellar ataxia type 31,[SCA31],"An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.",[117210],,,,,Spinocerebellar ataxia 31,TRUE,FALSE,Active +GARD:9976,Active,Orphanet,ORPHA:98771,Disorder,[Disease],Spinocerebellar ataxia type 18,[SCA18],Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.,[607458],,,,,Spinocerebellar ataxia 18,TRUE,FALSE,Active +GARD:9977,Active,Orphanet,ORPHA:83472,Disorder,[Malformation syndrome],CAMOS syndrome,"[Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome, SCAR5]","A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.",,,,,,Spinocerebellar ataxia autosomal recessive 5,TRUE,FALSE,Active +GARD:9978,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia X-linked type 2,TRUE,FALSE,Active +GARD:9979,Legacy,GARD,,,,,,,,,,,,Megarbane syndrome,TRUE,FALSE,Active +GARD:998,Active,Orphanet,ORPHA:1538,Disorder,[Malformation syndrome],Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,[Braddock-Jones-Superneau syndrome],"A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.",[123155],,,,,Braddock Jones Superneau syndrome,TRUE,FALSE,Active +GARD:9980,Active,Orphanet,ORPHA:85292,Disorder,[Disease],X-linked spinocerebellar ataxia type 4,"[SCAX4, X-linked ataxia-dementia syndrome]","Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.",[301840],,,,,Spinocerebellar ataxia X-linked type 4,TRUE,FALSE,Active +GARD:9981,Active,Orphanet,ORPHA:85297,Disorder,[Malformation syndrome],X-linked spinocerebellar ataxia type 3,"[SCAX3, X-linked ataxia-deafness syndrome, X-linked ataxia-hearing loss syndrome]","X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.",[301790],,,,,Spinocerebellar ataxia X-linked type 3,TRUE,FALSE,Active +GARD:9983,Active,Orphanet+OMIM,OMIM:604537,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 5,,,[604537],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 5,TRUE,FALSE,Active +GARD:9984,Active,Orphanet,ORPHA:85283,Disorder,[Malformation syndrome],"X-linked intellectual disability, Miles-Carpenter type",,"X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.",[314580],,,,,Miles-Carpenter x-linked mental retardation syndrome,TRUE,FALSE,Retired +GARD:9985,Legacy,GARD,,,,,,,,,,,,Jejunal atresia with renal adysplasia,TRUE,FALSE,Active +GARD:9986,Legacy,GARD,,,,,,,,,,,,"Severe combined immunodeficiency, atypical",TRUE,FALSE,Active +GARD:9987,Active,Orphanet,ORPHA:275,Disorder,[Disease],Severe combined immunodeficiency due to DCLRE1C deficiency,"[SCID due to ARTEMIS deficiency, SCID due to DCLRE1C deficiency, SCID, Athabascan type, SCID, Athabaskan type, Severe combined immunodeficiency due to ARTEMIS deficiency, Severe combined immunodeficiency, Athabascan type, Severe combined immunodeficiency, Athabaskan type]","Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.",[602450],,,,,Severe combined immunodeficiency with sensitivity to ionizing radiation,TRUE,FALSE,Active +GARD:9989,Active,Orphanet,ORPHA:90154,Subtype of disorder,[Clinical subtype],Mandibuloacral dysplasia with type B lipodystrophy,,,[608612],,,,,Mandibuloacral dysplasia with type B lipodystrophy,TRUE,FALSE,Active +GARD:9990,Legacy,GARD,,,,,,,,,,,,"Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules",TRUE,FALSE,Active +GARD:9991,Active,Orphanet,ORPHA:75496,Subtype of disorder,[Clinical subtype],B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,"[B4GALT7-related spondylodysplastic EDS, EDS progeroid type 1, EDS with short stature and limb anomalies, spEDS-B4GALT7]","A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.","[130070, 615349]",,,,,Spondylodysplastic Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:9992,Legacy,GARD,,,,,,,,,,,,Midphalangeal hair,TRUE,FALSE,Active +GARD:9993,Active,Orphanet,ORPHA:97229,Disorder,[Malformation syndrome],Riboflavin transporter deficiency,[Brown-Vialetto-van Laere syndrome],"A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.","[211500, 211530, 614707]",,,,,Riboflavin transporter deficiency,TRUE,FALSE,Active +GARD:9994,Active,Orphanet,ORPHA:600731,Disorder,[Malformation syndrome],Clark-Baraitser syndrome,,,[617752],,,,,Clark-Baraitser syndrome,TRUE,FALSE,Active +GARD:9995,Active,Orphanet,ORPHA:101112,Disorder,[Disease],Spinocerebellar ataxia type 26,[SCA26],A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.,[609306],,,,,Spinocerebellar ataxia 26,TRUE,FALSE,Active +GARD:9996,Active,Orphanet,ORPHA:101111,Disorder,[Disease],Spinocerebellar ataxia type 25,[SCA25],Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.,[608703],,,,,Spinocerebellar ataxia 25,TRUE,FALSE,Active +GARD:9997,Active,Orphanet,ORPHA:101110,Disorder,[Disease],Spinocerebellar ataxia type 20,[SCA20],Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.,[608687],,,,,Spinocerebellar ataxia 20,TRUE,FALSE,Active +GARD:9998,Active,Orphanet,ORPHA:70595,Disorder,[Disease],Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,[SANDO],"A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.",[607459],,,,,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",TRUE,FALSE,Active +GARD:9999,Active,Orphanet,ORPHA:98773,Disorder,[Disease],Spinocerebellar ataxia type 21,[SCA21],"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.",[607454],,,,,Spinocerebellar ataxia 21,TRUE,FALSE,Active diff --git a/RDAS.GFKG/annotate_text.py b/RDAS_GFKG/annotate_text.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/annotate_text.py rename to RDAS_GFKG/annotate_text.py diff --git a/RDAS.GFKG/generate.py b/RDAS_GFKG/generate.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/generate.py rename to RDAS_GFKG/generate.py diff --git a/RDAS.GFKG/grant.conf b/RDAS_GFKG/grant.conf old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/grant.conf rename to RDAS_GFKG/grant.conf diff --git a/RDAS.GFKG/init.py b/RDAS_GFKG/init.py old mode 100644 new mode 100755 similarity index 82% rename from RDAS.GFKG/init.py rename to RDAS_GFKG/init.py index 4694e8a..dd0b018 --- a/RDAS.GFKG/init.py +++ b/RDAS_GFKG/init.py @@ -2,10 +2,11 @@ import sys workspace = os.path.dirname(os.path.abspath(__file__)) sys.path.append(workspace) +sys.path.append('/home/leadmandj/RDAS/') from datetime import datetime, date from AlertCypher import AlertCypher import sysvars -import grant.methods as rdas +import RDAS_GFKG.methods as rdas from time import sleep def main(restart_raw=False, restart_processed=False): @@ -14,4 +15,6 @@ def main(restart_raw=False, restart_processed=False): sleep(5) db = AlertCypher(sysvars.gnt_db) - rdas.start(db, restart_raw=restart_raw, restart_processed=restart_processed) \ No newline at end of file + rdas.start(db, restart_raw=restart_raw, restart_processed=restart_processed) + +main(restart_processed=False) \ No newline at end of file diff --git a/RDAS.GFKG/methods.py b/RDAS_GFKG/methods.py old mode 100644 new mode 100755 similarity index 71% rename from RDAS.GFKG/methods.py rename to RDAS_GFKG/methods.py index c828564..7322e55 --- a/RDAS.GFKG/methods.py +++ b/RDAS_GFKG/methods.py @@ -3,31 +3,48 @@ import sysvars workspace = os.path.dirname(os.path.abspath(__file__)) sys.path.append(workspace) +sys.path.append('/home/leadmandj/RDAS/') import update_grant import pandas as pd +import numpy as np from AlertCypher import AlertCypher import requests import json import nltk nltk.download('punkt') +nltk.download('stopwords') from nltk.stem import PorterStemmer from nltk.tokenize import word_tokenize import re import ast from itertools import permutations from nltk.corpus import stopwords -nltk.download('stopwords') import spacy import csv -import pubmed.methods as rdas +import RDAS_GFKG.methods as rdas from datetime import datetime from sentence_transformers import SentenceTransformer, util from transformers import AutoTokenizer, AutoModel import torch import glob +from datasets import load_dataset +from sentence_transformers import SentenceTransformer, models +from transformers import BertTokenizer +from transformers import get_linear_schedule_with_warmup +from torch.optim import AdamW +from torch.utils.data import DataLoader +from tqdm import tqdm +import time +import random +from transformers import BertTokenizer, RobertaTokenizer, RobertaModel + +tokenizer = AutoTokenizer.from_pretrained('microsoft/BiomedNLP-PubMedBERT-base-uncased-abstract-fulltext') +word_pattern = re.compile(r'\b\w+\b') def start(db, restart_raw=False, restart_processed=False): + db.setConf('UPDATE_PROGRESS','grant_in_progress','True') update_grant.main(db, restart_raw=restart_raw, restart_processed=restart_processed) + db.setConf('UPDATE_PROGRESS','grant_in_progress','False') def download_nih_data(restart_raw=False): current_year = int(datetime.today().year) @@ -67,9 +84,9 @@ def download_nih_data(restart_raw=False): if len(os.listdir(f'{sysvars.gnt_files_path}raw/{file_dir}/')) == 1: for i in range(1985,current_year+1): - command = f'curl -L -X GET https://reporter.nih.gov/exporter/{type}/download/{i} -o {sysvars.base_path}grant/src/raw/{file_dir}/{type}{i}.zip' + command = f'curl -L -X GET https://reporter.nih.gov/exporter/{type}/download/{i} -o {sysvars.gnt_files_path}raw/{file_dir}/{type}{i}.zip' os.system(command) - command = f'unzip {sysvars.gnt_files_path}raw/{file_dir}/{type}{i}.zip -d {sysvars.base_path}grant/src/raw/{file_dir}' + command = f'unzip {sysvars.gnt_files_path}raw/{file_dir}/{type}{i}.zip -d {sysvars.gnt_files_path}raw/{file_dir}' os.system(command) command = f'rm {sysvars.gnt_files_path}raw/{file_dir}/{type}{i}.zip' os.system(command) @@ -132,7 +149,7 @@ def update_dictionary(dictionary): new_key = Gard[Gard['GardName'] == key]['GardId'].tolist() if new_key: new_key = new_key[0].replace('"', '') - updated_dict[new_key] = value + updated_dict[(key,new_key)] = value else: updated_dict[key] = value return updated_dict @@ -149,20 +166,17 @@ def remove_similar_strings(df): list_b.remove(item) return df -def extract_words_from_json_string(input_string): +def extract_words_from_json_string(json_string): try: - # Use ast.literal_eval to safely convert the string to a list - result_list = ast.literal_eval(input_string) - if isinstance(result_list, list): - return result_list - else: - raise ValueError("Input is not a string representation of a list.") - except (ValueError, SyntaxError) as e: - print(f"Error converting string to list: {e}") - return None + word_list = json.loads(json_string) + words = [word.replace('"', '').strip() for word in word_list ] + return words + except (json.JSONDecodeError, TypeError) as e: + #print(f"Error decoding JSON: {e}") + return [] def len_chcek(row): - return [w for w in row if (len(w) >4) or (w == "sars") ] + return [w for w in row if (len(w) >4) or (w == "sars") ] #Gard = pd.read_csv('/content/Gard_V1.csv') @@ -181,6 +195,7 @@ def generate_term_orders_list_of_sords(words): for i in words: X+=generate_term_orders(i) return X +#Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) ) ######################## Removing stop words ######################################################### def process_row(row): @@ -190,7 +205,7 @@ def process_row(row): return ' '.join(words) def process_row_list(row): - return [process_row(w) for w in row] + return [process_row(w) for w in row] def remove_stop_words(text): stop_words = set(stopwords.words('english')) @@ -229,73 +244,91 @@ def extract_words_from_json_string2(input_string): print(f"Error converting string to list: {e}") return None +def get_def(a): + A=source_dict[a.lower()] + if type(A)==str: return A + else: return a + +source_dict = {} def GardNamePreprocessor(Gard): - Gard['GardName'] = Gard['GardName'].apply(lambda x: str(x).replace('"', '').lower()) - Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x).lower())) - Gard = remove_similar_strings(Gard) - Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x))) - Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms'] - #Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw'] = Gard['Synonyms'].apply(lambda x: process_row_list(x)) #.apply(lambda x: process_row_list(x)) - Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) ) - #Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw'].apply(lambda x: process_row_list_2(x)) - #Gard['Synonyms_sw_nltk']=Gard['Synonyms_sw_nltk']+Gard['Synonyms_sw'] - #Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw_nltk'].apply(lambda x: list(set(x))) - #Gard['Synonyms_stem'] = Gard['Synonyms'].apply(lambda x: stem_text_list(x)) - #Gard['Synonyms_stem_bow']=Gard['Synonyms_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x)) - Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x:list(set(len_chcek(x))) ) - Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) ) - Gard['Synonyms_sw'] = Gard['Synonyms_sw_stem'].apply(lambda x: list(set(len_chcek(x))) ) - - Excluding_list = ['GARD:{:07d}'.format(int(gard_id.split(':')[1])) for gard_id in sysvars.gard_preprocessor_exclude] - Gard['GardId'] = Gard['GardId'].str.strip('"') - Gard = Gard[~Gard['GardId'].isin(Excluding_list)] - - return Gard + print(Gard) + Gard['GardName'] = Gard['GardName'].apply(lambda x: str(x).replace('"', '').lower()) + Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x).lower())) + Gard= remove_similar_strings(Gard) + #Gard = pd.read_csv('/content/Gard_V1.csv') + Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(x)) + Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms'] + Gard['Synonyms_sw'] = Gard['Synonyms']#.apply(lambda x: process_row_list(x)) + Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) ) + Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) ) + Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x)) + Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) + Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x:list(set(len_chcek(x))) ) + Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) ) + Gard['Synonyms_sw'] = Gard['Synonyms_sw'].apply(lambda x: list(set(len_chcek(x))) ) + Excluding_list = ['GARD:{:07d}'.format(int(gard_id.split(':')[1])) for gard_id in sysvars.gard_preprocessor_exclude] + Gard['GardId'] = Gard['GardId'].str.strip('"') + Gard = Gard[~Gard['GardId'].isin(Excluding_list)] + help=pd.read_csv(f'{sysvars.gnt_files_path}J_GARD_master.csv') + + for index, row in help.iterrows(): + source_name = row['SourceName'] + source_description = row['SourceDescription'] + if type(source_name) ==str: + source_dict[source_name.lower()] = source_description + + Gard['GardNamedef']=Gard.apply(lambda x: get_def(x['GardName']), axis=1) + + return Gard def download_gard_data_from_db (): db = AlertCypher(sysvars.gard_db) in_progress = db.getConf('UPDATE_PROGRESS', 'grant_in_progress') - if not in_progress == 'True': - return None + #if not in_progress == 'True': + #return None - if not os.path.exists(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv'): + if not os.path.exists(f'{sysvars.gnt_files_path}processed/all_gards_processed.csv'): response = db.run('MATCH (x:GARD) RETURN x.GardId as GardId, x.GardName as GardName, x.Synonyms as Synonyms').data() - myFile = open(f'{sysvars.base_path}grant/src/raw/all_gards.csv', 'w') + myFile = open(f'{sysvars.gnt_files_path}raw/all_gards.csv', 'w') writer = csv.writer(myFile) writer.writerow(['GardId', 'GardName', 'Synonyms']) for dictionary in response: writer.writerow(dictionary.values()) myFile.close() - df = pd.read_csv(f'{sysvars.base_path}grant/src/raw/all_gards.csv') + df = pd.read_csv(f'{sysvars.gnt_files_path}raw/all_gards.csv') df = GardNamePreprocessor(df) - df.to_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') + df.to_csv(f'{sysvars.gnt_files_path}processed/all_gards_processed.csv') else: - df = pd.read_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') + df = pd.read_csv(f'{sysvars.gnt_files_path}processed/all_gards_processed.csv') df['Synonyms_sw'] = df['Synonyms_sw'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) df['Synonyms_sw_bow'] = df['Synonyms_sw_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) df['Synonyms_sw_stem'] = df['Synonyms_sw_stem'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) df['Synonyms_sw_stem_bow'] = df['Synonyms_sw_stem_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) + help=pd.read_csv(f'{sysvars.gnt_files_path}J_GARD_master.csv') + for index, row in help.iterrows(): + source_name = row['SourceName'] + source_description = row['SourceDescription'] + if type(source_name) ==str: + source_dict[source_name.lower()] = source_description + return df # Global Objects for Processing Gard = download_gard_data_from_db() +print(Gard) ''' -if not os.path.exists(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv'): +if not os.path.exists(f'{sysvars.gnt_files_path}processed/all_gards_processed.csv'): pass Gard = download_gard_data_from_db() else: - Gard = pd.read_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') + Gard = pd.read_csv(f'{sysvars.gnt_files_path}processed/all_gards_processed.csv') Gard['Synonyms_sw'] = Gard['Synonyms_sw'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) Gard['Synonyms_sw_bow'] = Gard['Synonyms_sw_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) @@ -332,9 +365,10 @@ def is_about_term(input_text, target_term): #check_sen(text) def split_sentence(sentence): - # Use regular expression to split words without including punctuation - words = re.findall(r'\b\w+\b', sentence) + # Use the pre-compiled pattern for splitting + words = word_pattern.findall(sentence) return words + def word_matching(text,word): for i in split_sentence(word): if i not in text: @@ -343,16 +377,13 @@ def word_matching(text,word): def get_gard_title(text, list_chcek): if list_chcek in ['Synonyms_stem','Synonyms_sw_stem','Synonyms_stem_bow','Synonyms_sw_stem_bow']: text1=stem_text(text.lower()) - elif list_chcek in [ 'Synonyms_sw_nltk'] : text1=remove_stop_words(text.lower()) - else: text1=text.lower() - + elif list_chcek in [ 'Synonyms_sw_nltk'] : text1=remove_stop_words(text.lower()) + else: text1=text.lower() text2=split_sentence(text1) out=dict() - for i in Gard.index: if Gard[list_chcek][i] != []: - for j in Gard[list_chcek][i]: - #if not j in ['-','',' ']: + for j in Gard[list_chcek][i]: if j in text1 and word_matching(text2,j)==True: if Gard['GardName'][i] in out: if len(j.split()) ==1: out[Gard['GardName'][i]][0]+=text2.count(j) @@ -364,31 +395,17 @@ def get_gard_title(text, list_chcek): return out def get_gard_title_stem_exact(text): - exact_matching=get_gard_title(text, 'Synonyms_sw_bow') - #print(exact_matching) - Stemming_chcek=get_gard_title(text, 'Synonyms_sw_stem_bow') - #print(Stemming_chcek) - if exact_matching is None: - exact_matching = {} - if Stemming_chcek is None: - Stemming_chcek = {} - combined_dict = {} - combined_dict.update(exact_matching) - combined_dict.update(Stemming_chcek) + exact_matching = get_gard_title(text, 'Synonyms_sw_bow') or {} + Stemming_check = get_gard_title(text, 'Synonyms_sw_stem_bow') or {} + combined_dict = {**exact_matching, **Stemming_check} # Merge dictionaries # Remove keys that are part of another key - keys_to_remove = set() - for key1 in combined_dict: - for key2 in combined_dict: - if key1 != key2 and key1 in key2: - keys_to_remove.add(key1) - for key in keys_to_remove: - del combined_dict[key] - if combined_dict=={}:return None - for key1 in combined_dict: - combined_dict[key1]=1 - return combined_dict + keys_to_remove = {key1 for key1 in combined_dict for key2 in combined_dict if key1 != key2 and key1 in key2} + combined_dict = {key: 1 for key in combined_dict if key not in keys_to_remove} + return combined_dict or None # Load spaCy model with sentencizer component +import spacy +nlp = spacy.load("en_core_web_sm") # Function to determine verb tense def get_verb_tense(verb): @@ -424,6 +441,7 @@ def check_sen(text): # Check the tense of the verb tense = get_verb_tense(token) sentence_tenses.add(tense) + # Determine the overall tense of the sentence if is_sentence_negated(sent)==False and ("past" not in sentence_tenses): if i == 1: first_sentence = sent.text @@ -450,13 +468,14 @@ def get_sentence_with_word(paragraph, target_word): paragraph = paragraph.replace(char, '.') # Split the paragraph into sentences using standard punctuation - sentences = re.split(r'(?=0.7: - result_dict[key] = [value, is_about_term(input_text.lower(), key)] + #if is_about_term(input_text.lower(), key) >=0.5: + #sen_has_gard=get_sen(input_text.lower(), key,title_) + defin=get_def(key) + try: + #result_dict[key] = [20 if type =='title' else 1+(factor*value //2), is_about_term(sen_has_gard, defin), is_about_term(input_text.lower(), defin), sen_has_gard] + result_dict[key] = [normalize(20 if type =='title' else 1+(factor*value //2)), is_about_term(input_text.lower(), defin)] + + except: + try: + #result_dict[key] = [20 if type =='title' else 1+ (factor*value //2), is_about_term(sen_has_gard[:2000], defin[:2000]), is_about_term(input_text.lower()[:2000], defin[:2000]), sen_has_gard] + result_dict[key] = [normalize(20 if type =='title' else 1+ (factor*value //2)), is_about_term(input_text.lower()[:2000], defin[:2000])] + except: + try: + result_dict[key] = [normalize(20 if type =='title' else 1+ (factor*value //2)) , is_about_term(input_text.lower()[:1500], defin[:1500])] + #result_dict[key] = [20 if type =='title' else 1+ (factor*value //2) , is_about_term(sen_has_gard[:1500], defin[:1500]), is_about_term(input_text.lower()[:1500], defin[:1500]), sen_has_gard] + + except: + #result_dict[key] = [20 if type =='title' else 1+ (factor*value //2) , is_about_term(sen_has_gard[:1000], defin[:1000]), is_about_term(input_text.lower()[:500], defin[:1000]), sen_has_gard] + result_dict[key] = [normalize(20 if type =='title' else 1+ (factor*value //2)) , is_about_term(input_text.lower()[:500], defin[:1000])] + return result_dict -def gard_id(title_, Public_health_relevance_statement, abstract_, nlp): +def grad_id(title_, Public_health_relevance_statement, abstract_): if not isinstance(title_, str) and not isinstance(Public_health_relevance_statement, str) and not isinstance(abstract_, str): return '' # Return default values when no string input is provided if title_ and isinstance(title_, str): name = get_gard_title_stem_exact(title_) - if name: return name + if name: + if abstract_ and isinstance(abstract_, str): + return normalize_combined_dictionary(abstract_,title_,name,{},{},{},1,1,'title') + else: return normalize_combined_dictionary(title_,title_,name,{},{},{},1,1,'title') + if Public_health_relevance_statement and isinstance(Public_health_relevance_statement, str): - A, B, C,D = check_sen(Public_health_relevance_statement, nlp) + A, B, C,D = check_sen(Public_health_relevance_statement) name1 = get_gard_abstract_stem_exact(A) name2 = get_gard_abstract_stem_exact(B) name3 = get_gard_abstract_stem_exact(C) name4 = get_gard_abstract_stem_exact(D) - name=normalize_combined_dictionary(Public_health_relevance_statement,name1,name2,name3,name4,0.7,0.9) + name=normalize_combined_dictionary(Public_health_relevance_statement,title_,name1,name2,name3,name4,0.7,0.9,'statement') if name and (name !={}): return name + if abstract_ and isinstance(abstract_, str): - A, B, C , D = check_sen(abstract_, nlp) + A, B, C , D = check_sen(abstract_) name1 = get_gard_abstract_stem_exact(A) name2 = get_gard_abstract_stem_exact(B) name3 = get_gard_abstract_stem_exact(C) name4 = get_gard_abstract_stem_exact(D) - name=normalize_combined_dictionary(abstract_,name1,name2,name3,name4,0,0.7) + name=normalize_combined_dictionary(abstract_,title_,name1,name2,name3,name4,0,0.7,'abstract') if name and (name !={}): return name -def GardNameExtractor(project_title,phr_text,abstract_text, nlp): +def GardNameExtractor(project_title,phr_text,abstract_text): #Abstract1['Gard_name']=Abstract1.apply(lambda x: gard_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1) - gard_ids = gard_id(project_title,phr_text,abstract_text, nlp) + gard_ids = grad_id(project_title,phr_text,abstract_text) if gard_ids: return update_dictionary(gard_ids) else: diff --git a/RDAS.GFKG/prep_neo4j_data.py b/RDAS_GFKG/prep_neo4j_data.py old mode 100644 new mode 100755 similarity index 97% rename from RDAS.GFKG/prep_neo4j_data.py rename to RDAS_GFKG/prep_neo4j_data.py index c2febeb..e1bd1f8 --- a/RDAS.GFKG/prep_neo4j_data.py +++ b/RDAS_GFKG/prep_neo4j_data.py @@ -25,7 +25,7 @@ from annotate_text import * from remove_general_umls_concepts import clean_annotation_output from AlertCypher import AlertCypher -import grant.methods as rdas +import RDAS_GFKG.methods as rdas import threading ENCODING = "latin-1" #latin-1 @@ -98,33 +98,33 @@ def combine_normmap_results(): lock = threading.Lock() -def batch_normmap(df, thr, year, nlp): +def batch_normmap(df, thr, year): r,c = df.shape for idx in range(r): - try: - with lock: - print(f'{idx}/{r} [{thr}]') - - row = df.iloc[idx] - appl_id = row['APPLICATION_ID'] - abstract = row['ABSTRACT_TEXT'] - phr = row['PHR'] - title = row['PROJECT_TITLE'] - - gard_ids = rdas.GardNameExtractor(title, phr, abstract, nlp) - if gard_ids: - for gard,add_data in gard_ids.items(): - if add_data == 1: - add_data = [1,1] - - with lock: - print({'ID': appl_id, 'GARD_id': gard, 'CONF_SCORE': add_data[0], 'SEM_SIM': add_data[1]}) - with open(data_neo4j(f'normmap/normmap_results_{year}.csv'), "a") as f: - f.writelines([f'{appl_id},{gard},{add_data[0]},{add_data[1]}\n']) - - except Exception as e: - print(e) - continue + #try: + with lock: + print(f'{idx}/{r} [{thr}]') + + row = df.iloc[idx] + appl_id = row['APPLICATION_ID'] + abstract = row['ABSTRACT_TEXT'] + phr = row['PHR'] + title = row['PROJECT_TITLE'] + + gard_ids = rdas.GardNameExtractor(title, phr, abstract) + if gard_ids: + for gard,add_data in gard_ids.items(): + if add_data == 1: + add_data = [1,1] + + with lock: + print({'ID': appl_id, 'GARD_id': gard, 'CONF_SCORE': add_data[0], 'SEM_SIM': add_data[1]}) + with open(data_neo4j(f'normmap/normmap_results_{year}.csv'), "a") as f: + f.writelines([f'{appl_id},{gard},{add_data[0]},{add_data[1]}\n']) + + #except Exception as e: + #print(e) + #continue """ def normmap_process (df): @@ -165,7 +165,7 @@ def normmap_process (df): def run_normmap(): print('Running NormMap') - nlp = spacy.load("en_core_web_sm") + #nlp = spacy.load("en_core_web_sm") abs_files = glob.glob(data_raw('abstracts') + '/*.csv') abs_files = sorted(abs_files) @@ -211,7 +211,7 @@ def run_normmap(): # Create threads to process results for thrnum, lst in enumerate(list_df): - thread = threading.Thread(target=batch_normmap, args=(lst, thrnum, year, nlp), daemon=True) + thread = threading.Thread(target=batch_normmap, args=(lst, thrnum, year), daemon=True) thread_list.append(thread) for thr in thread_list: diff --git a/RDAS.GFKG/prepare_annotation_text.py b/RDAS_GFKG/prepare_annotation_text.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/prepare_annotation_text.py rename to RDAS_GFKG/prepare_annotation_text.py diff --git a/RDAS.GFKG/remove_duplicate_entities.py b/RDAS_GFKG/remove_duplicate_entities.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/remove_duplicate_entities.py rename to RDAS_GFKG/remove_duplicate_entities.py diff --git a/RDAS.GFKG/remove_general_umls_concepts.py b/RDAS_GFKG/remove_general_umls_concepts.py old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/remove_general_umls_concepts.py rename to RDAS_GFKG/remove_general_umls_concepts.py diff --git a/RDAS.GFKG/src/processed/abstracts/README.md b/RDAS_GFKG/src/processed/abstracts/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/abstracts/README.md rename to RDAS_GFKG/src/processed/abstracts/README.md diff --git a/RDAS.GFKG/src/processed/annotation_files/README.md b/RDAS_GFKG/src/processed/annotation_files/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/annotation_files/README.md rename to RDAS_GFKG/src/processed/annotation_files/README.md diff --git a/RDAS.GFKG/src/processed/annotation_source/README.md b/RDAS_GFKG/src/processed/annotation_source/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/annotation_source/README.md rename to RDAS_GFKG/src/processed/annotation_source/README.md diff --git a/RDAS.GFKG/src/processed/annotation_umls/README.md b/RDAS_GFKG/src/processed/annotation_umls/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/annotation_umls/README.md rename to RDAS_GFKG/src/processed/annotation_umls/README.md diff --git a/RDAS.GFKG/src/processed/clinical_studies/README.md b/RDAS_GFKG/src/processed/clinical_studies/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/clinical_studies/README.md rename to RDAS_GFKG/src/processed/clinical_studies/README.md diff --git a/RDAS.GFKG/src/processed/disease/README.md b/RDAS_GFKG/src/processed/disease/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/disease/README.md rename to RDAS_GFKG/src/processed/disease/README.md diff --git a/RDAS.GFKG/src/processed/grants_umls/README.md b/RDAS_GFKG/src/processed/grants_umls/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/grants_umls/README.md rename to RDAS_GFKG/src/processed/grants_umls/README.md diff --git a/RDAS.GFKG/src/processed/link_tables/README.md b/RDAS_GFKG/src/processed/link_tables/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/link_tables/README.md rename to RDAS_GFKG/src/processed/link_tables/README.md diff --git a/RDAS.GFKG/src/processed/normmap/README.md b/RDAS_GFKG/src/processed/normmap/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/normmap/README.md rename to RDAS_GFKG/src/processed/normmap/README.md diff --git a/RDAS.GFKG/src/processed/patents/README.md b/RDAS_GFKG/src/processed/patents/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/patents/README.md rename to RDAS_GFKG/src/processed/patents/README.md diff --git a/RDAS.GFKG/src/processed/projects/README.md b/RDAS_GFKG/src/processed/projects/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/projects/README.md rename to RDAS_GFKG/src/processed/projects/README.md diff --git a/RDAS.GFKG/src/processed/projects_with_funds/README.md b/RDAS_GFKG/src/processed/projects_with_funds/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/projects_with_funds/README.md rename to RDAS_GFKG/src/processed/projects_with_funds/README.md diff --git a/RDAS.GFKG/src/processed/publications/README.md b/RDAS_GFKG/src/processed/publications/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/processed/publications/README.md rename to RDAS_GFKG/src/processed/publications/README.md diff --git a/RDAS.GFKG/src/raw/abstracts/README.md b/RDAS_GFKG/src/raw/abstracts/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/abstracts/README.md rename to RDAS_GFKG/src/raw/abstracts/README.md diff --git a/RDAS.GFKG/src/raw/clinical_studies/README.md b/RDAS_GFKG/src/raw/clinical_studies/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/clinical_studies/README.md rename to RDAS_GFKG/src/raw/clinical_studies/README.md diff --git a/RDAS.GFKG/src/raw/link_tables/README.md b/RDAS_GFKG/src/raw/link_tables/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/link_tables/README.md rename to RDAS_GFKG/src/raw/link_tables/README.md diff --git a/RDAS.GFKG/src/raw/normmap/README.md b/RDAS_GFKG/src/raw/normmap/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/normmap/README.md rename to RDAS_GFKG/src/raw/normmap/README.md diff --git a/RDAS.GFKG/src/raw/patents/README.md b/RDAS_GFKG/src/raw/patents/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/patents/README.md rename to RDAS_GFKG/src/raw/patents/README.md diff --git a/RDAS.GFKG/src/raw/projects/README.md b/RDAS_GFKG/src/raw/projects/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/projects/README.md rename to RDAS_GFKG/src/raw/projects/README.md diff --git a/RDAS.GFKG/src/raw/publications/README.md b/RDAS_GFKG/src/raw/publications/README.md old mode 100644 new mode 100755 similarity index 100% rename from RDAS.GFKG/src/raw/publications/README.md rename to RDAS_GFKG/src/raw/publications/README.md diff --git a/RDAS.GFKG/steps.py b/RDAS_GFKG/steps.py old mode 100644 new mode 100755 similarity index 99% rename from RDAS.GFKG/steps.py rename to RDAS_GFKG/steps.py index 147031a..f073b98 --- a/RDAS.GFKG/steps.py +++ b/RDAS_GFKG/steps.py @@ -356,7 +356,7 @@ WHERE x <> \", \" AND size(x) > 0 | x] as names, types, data MERGE (a:Annotation { umls_cui: data.UMLS_CUI, - umls_concept: data.UMLS_CONCEPT, + umls_concept: toLower(data.UMLS_CONCEPT), semantic_types: types, semantic_types_names: names}) WITH a, data diff --git a/RDAS.GFKG/update.py b/RDAS_GFKG/update.py old mode 100644 new mode 100755 similarity index 79% rename from RDAS.GFKG/update.py rename to RDAS_GFKG/update.py index cbf7855..bc0cc76 --- a/RDAS.GFKG/update.py +++ b/RDAS_GFKG/update.py @@ -4,9 +4,9 @@ sys.path.append(workspace) sys.path.append('/home/aom2/RDAS') import sysvars -import grant.init +import RDAS_GFKG.init from time import sleep def main (): - grant.init.main() + RDAS_GFKG.init.main() diff --git a/RDAS.GFKG/update_grant.py b/RDAS_GFKG/update_grant.py old mode 100644 new mode 100755 similarity index 84% rename from RDAS.GFKG/update_grant.py rename to RDAS_GFKG/update_grant.py index e978e45..4364555 --- a/RDAS.GFKG/update_grant.py +++ b/RDAS_GFKG/update_grant.py @@ -3,6 +3,7 @@ import time workspace = os.path.dirname(os.path.abspath(__file__)) sys.path.append(workspace) +sys.path.append('/home/leadmandj/RDAS/') # sys.path.append(os.getcwd()) sys.path.append('/home/aom2/RDAS') @@ -12,7 +13,7 @@ from steps import steps from prep_neo4j_data import FilesToAdd, prep_data import sysvars -import grant.methods as rdas +import RDAS_GFKG.methods as rdas def write(session: Session, query: str, params: dict) -> list: """ @@ -51,10 +52,10 @@ def fn(session: Session, fta: FilesToAdd) -> None: return fn def main(db: AlertCypher, restart_raw=False, restart_processed=False): - rdas.download_nih_data(restart_raw) #There is no way to CURL project funding data, must be downloaded manually - rdas.clear_processed_files(restart_processed) + if restart_raw: rdas.download_nih_data(restart_raw) #There is no way to CURL project funding data, must be downloaded manually + if restart_processed: rdas.clear_processed_files(restart_processed) - fta = prep_data(f"{sysvars.base_path}grant/src/raw", f"{sysvars.base_path}grant/src/processed") + fta = prep_data(f"{sysvars.gnt_files_path}raw", f"{sysvars.gnt_files_path}processed") # run database upgrade steps on only new/modified files for step in steps: diff --git a/RDAS_PAKG/NaturalHistory4GARD b/RDAS_PAKG/NaturalHistory4GARD new file mode 160000 index 0000000..1fef421 --- /dev/null +++ b/RDAS_PAKG/NaturalHistory4GARD @@ -0,0 +1 @@ +Subproject commit 1fef421c7c86fa6f6c8bc5db581e65a5613290dd diff --git a/RDAS.PAKG/epi4GARD b/RDAS_PAKG/epi4GARD similarity index 100% rename from RDAS.PAKG/epi4GARD rename to RDAS_PAKG/epi4GARD diff --git a/RDAS.PAKG/init.py b/RDAS_PAKG/init.py similarity index 95% rename from RDAS.PAKG/init.py rename to RDAS_PAKG/init.py index 7e831fe..5591402 100644 --- a/RDAS.PAKG/init.py +++ b/RDAS_PAKG/init.py @@ -1,12 +1,13 @@ import os import sys workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append('/home/leadmandj/RDAS/') sys.path.append(workspace) from datetime import datetime, date from dateutil.relativedelta import relativedelta from AlertCypher import AlertCypher import sysvars -import pubmed.methods as rdas +import RDAS_PAKG.methods as rdas from time import sleep today = datetime.now().strftime("%Y/%m/%d") diff --git a/RDAS.PAKG/methods.py b/RDAS_PAKG/methods.py similarity index 98% rename from RDAS.PAKG/methods.py rename to RDAS_PAKG/methods.py index a797c94..a4b1b05 100644 --- a/RDAS.PAKG/methods.py +++ b/RDAS_PAKG/methods.py @@ -174,26 +174,25 @@ def get_article_in_section(omim_reference): # Iterate over reference numbers and PubMed IDs for refNumber,pmid,title,authors,doi,source in refNumbers: + # Identify sections referencing the current PubMed ID + tsections = [] + for idx, sectionName in enumerate(references): + if references[sectionName].intersection(set([str(refNumber)])): + tsections.append(sectionName) + # Skip references without PubMed IDs if pmid: - tsections = [] - - # Identify sections referencing the current PubMed ID - for idx, sectionName in enumerate(references): - if references[sectionName].intersection(set([str(refNumber)])): - tsections.append(sectionName) - # Update the dictionary with PubMed ID and corresponding sections if tsections: articleString[str(pmid)] = tsections else: articleString[str(pmid)] = ['See Also'] - all_omim_data['pubmed'] = {'prefTitle':prefTitle, 'sections':articleString} + all_omim_data['pubmed'] = {'title':prefTitle, 'sections':articleString} else: current_non_pubmed_list = all_omim_data['non-pubmed'] - current_non_pubmed_list.append({'refNumber':refNumber, 'title':title, 'authors':{'fullName':authors}, 'doi':doi}) + current_non_pubmed_list.append({'refNumber':refNumber, 'title':title, 'authors':{'fullName':authors}, 'doi':doi, 'sections':tsections}) all_omim_data['non-pubmed'] = current_non_pubmed_list # Creates a list like [{'OMIM':'1020201','pubmed':{...}, 'non-pubmed':{...}}] @@ -384,10 +383,10 @@ def save_omim_articles(db, today): # Extract sections from OMIM articles omim_data_list = get_article_in_section(omim_json) for omim_data in omim_data_list: + omim = omim_data['OMIM'] if len(omim_data['pubmed']) > 0: - prefTitle = omim_data['pubmed']['prefTitle'] + prefTitle = omim_data['pubmed']['title'] sections = omim_data['pubmed']['sections'] - omim = omim_data['OMIM'] logging.info(f'sections: {sections}') @@ -416,12 +415,14 @@ def save_omim_articles(db, today): save_omim_remaining_articles(gard_id, prefTitle, omim, new_sections, search_source, db, today) # If the OMIM reference has no PubMed ID, create an article node with just the information supplied by OMIM - if len(omim_data['non-pubmed']) > 0: + if len(omim_data['non-pubmed']) > 0: for omim_data_index in omim_data['non-pubmed']: + sections = omim_data_index['sections'] + title = omim_data_index['title'] article_id = create_omim_article_no_pubmed(db, omim_data_index, gard_id, search_source, today) if article_id: create_authors(db, omim_data_index['authors'], article_id, omim=True) - save_omim_article_relation(article_id, prefTitle, omim, None, db, today) + save_omim_article_relation(article_id, title, omim, sections, db, today) db.setConf('UPDATE_PROGRESS', 'pubmed_omim_article_progress', str(idx)) @@ -453,12 +454,14 @@ def save_omim_article_relation(article_id, prefTitle, omim_id, sections, driver, if sections: if 'OMIM' in ref_check: + print(f'omim if::: {sections}') query = f''' MATCH (a:Article) WHERE id(a) = {article_id} MERGE (p:OMIMRef {{omimId: {omim_id}, omimName: \"{prefTitle}\", omimSections: {sections}}}) SET p.DateCreatedRDAS = \"{rdascreated}\" SET p.LastUpdatedRDAS = \"{rdasupdated}\" MERGE (a) - [r:HAS_OMIM_REF] -> (p) ''' else: + print(f'omim else::: {sections}') # Define the Cypher query for creating the relationship query = f''' MATCH (a:Article) WHERE id(a) = {article_id} @@ -467,9 +470,10 @@ def save_omim_article_relation(article_id, prefTitle, omim_id, sections, driver, MERGE (a) - [r:HAS_OMIM_REF] -> (p) ''' else: + print(f'sections else::: {sections}') query = f''' MATCH (a:Article) WHERE id(a) = {article_id} - MERGE (p:OMIMRef {{omimId: {omim_id}, omimName: \"{prefTitle}\", omimSections: []}}) SET p.DateCreatedRDAS = \"{rdascreated}\" SET p.LastUpdatedRDAS = \"{rdasupdated}\" + MERGE (p:OMIMRef {{omimId: {omim_id}, omimName: \"{prefTitle}\", omimSections: {sections}}}) SET p.DateCreatedRDAS = \"{rdascreated}\" SET p.LastUpdatedRDAS = \"{rdasupdated}\" MERGE (a) - [r:HAS_OMIM_REF] -> (p) ''' @@ -1152,11 +1156,12 @@ def create_epidemiology(tx, abstractDataRel, article_node, today): text = abstractDataRel['title'] + ' ' + abstractDataRel['abstractText'] # Check if the article is classified as epidemiology + epi_data = get_isEpi(text) if not epi_data: return - if epi_data['isEpi']: + if True: #epi_data['isEpi'] print(epi_data['isEpi']) epi_info = get_epiExtract(text) print('getEpi Info: ', str(epi_info), article_node) @@ -1382,18 +1387,21 @@ def create_annotations(tx, pubtatorData, article_node, today): create_annotations_query = ''' MATCH(a:Article) WHERE id(a) = $article_id MERGE (pa:PubtatorAnnotation { - type:$type, - infons_identifier:$infons_identifier, - infons_type:$infons_type, - text:$text, - DateCreatedRDAS:$rdascreated, - LastUpdatedRDAS:$rdasupdated + text = $text }) - MERGE (pa)- [r:ANNOTATION_FOR] -> (a) + ON MATCH + SET LastUpdatedRDAS = $rdasupdated + ON CREATE + SET infons_identifier:$infons_identifier + SET DateCreatedRDAS = $rdascreated + SET LastUpdatedRDAS = $rdasupdated + SET infons_type = $infons_type + MERGE (pa)- [r:ANNOTATION_FOR { type: $type }] -> (a) ''' for passage in pubtatorData['passages']: type = passage['infons']['type'] if 'type' in passage['infons'] else '' + for annotation in passage['annotations']: parameters={ "article_id":article_node, @@ -1413,7 +1421,7 @@ def create_annotations(tx, pubtatorData, article_node, today): except: pass parameters['text'] = temp - + # Execute the Cypher query to create PubtatorAnnotation nodes and associate them with the Article node txout = tx.run(create_annotations_query, args=parameters) diff --git a/RDAS.PAKG/update.py b/RDAS_PAKG/update.py similarity index 84% rename from RDAS.PAKG/update.py rename to RDAS_PAKG/update.py index c7ce506..0af57f5 100644 --- a/RDAS.PAKG/update.py +++ b/RDAS_PAKG/update.py @@ -5,9 +5,9 @@ sys.path.append(workspace) sys.path.append('/home/leadmandj/RDAS/') import sysvars -import pubmed.init +import RDAS_PAKG.init from time import sleep -from gard.methods import get_node_counts +from RDAS_GARD.methods import get_node_counts def main (update_from=False, update_to=False): """ @@ -22,7 +22,7 @@ def main (update_from=False, update_to=False): None """ - pubmed.init.main(update_from=update_from, update_to=update_to) + RDAS_PAKG.init.main(update_from=update_from, update_to=update_to) main() #TEST #get_node_counts() diff --git a/README.md b/README.md old mode 100644 new mode 100755 diff --git a/approve_dump.py b/approve_dump.py old mode 100644 new mode 100755 diff --git a/approved/README.md b/approved/README.md old mode 100644 new mode 100755 diff --git a/backup/RDAS_CTKG/README.md b/backup/RDAS_CTKG/README.md old mode 100644 new mode 100755 diff --git a/backup/RDAS_GARD/README.md b/backup/RDAS_GARD/README.md old mode 100644 new mode 100755 diff --git a/backup/RDAS_GFKG/README.md b/backup/RDAS_GFKG/README.md old mode 100644 new mode 100755 diff --git a/backup/RDAS_PAKG/README.md b/backup/RDAS_PAKG/README.md old mode 100644 new mode 100755 diff --git a/backup/README.md b/backup/README.md old mode 100644 new mode 100755 diff --git a/doc/grant-pipeline.drawio b/doc/grant-pipeline.drawio old mode 100644 new mode 100755 diff --git a/doc/grant-pipeline.png b/doc/grant-pipeline.png old mode 100644 new mode 100755 diff --git a/driver_automatic.py b/driver_automatic.py old mode 100644 new mode 100755 diff --git a/driver_manual.py b/driver_manual.py old mode 100644 new mode 100755 index 59b6fcd..aebdebe --- a/driver_manual.py +++ b/driver_manual.py @@ -5,8 +5,8 @@ sys.path.append(workspace) import argparse from AlertCypher import AlertCypher -import clinical.init, pubmed.init, grant.init, gard.init -import clinical.update, pubmed.update, grant.update +import RDAS_CTKG.init, RDAS_PAKG.init, RDAS_GFKG.init, RDAS_GARD.init +import RDAS_CTKG.update, RDAS_PAKG.update, RDAS_GFKG.update parser = argparse.ArgumentParser() parser.add_argument("-db", "--database", dest = "db", help="Database name") @@ -18,28 +18,28 @@ if args.db == 'ct': if args.mode == 'create': - clinical.init.main() + RDAS_CTKG.init.main() elif args.mode == 'update': - clinical.update.main() + RDAS_CTKG.update.main() elif args.db == 'pm': if args.mode == 'create': - pubmed.init.main() + RDAS_PAKG.init.main() elif args.mode == 'update': db = AlertCypher(sysvars.pm_db) last_updated = db.getConf('DATABASE','pubmed_update') - pubmed.update.main(last_updated) + RDAS_PAKG.update.main(last_updated) elif args.db == 'gnt': if args.mode == 'create': - grant.init.main() + RDAS_GFKG.init.main() elif args.mode == 'update': db.getConf('UPDATE_PROGRESS','grant_progress', 'True') - grant.update.main() + RDAS_GFKG.update.main() elif args.db == 'gard': if args.mode == 'create': - gard.init.main() + RDAS_GARD.init.main() else: print('No update command for database; try using "create"') else: diff --git a/email/ses_firebase.py b/email/ses_firebase.py new file mode 100755 index 0000000..44445c4 --- /dev/null +++ b/email/ses_firebase.py @@ -0,0 +1,164 @@ +import glob +import os +import sys +workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append(workspace) +sys.path.append(os.getcwd()) +import sysvars +from AlertCypher import AlertCypher +from datetime import date,datetime +import pandas as pd +from dateutil.relativedelta import relativedelta +import firebase_admin +from firebase_admin import auth +from firebase_admin import credentials +from firebase_admin import firestore +import alert +def fill_template(type,data): + tabs = {'clinical':'trials', 'grant':'project', 'pubmed':'nonepi-articles'} + txt_db = {'clinical': 'clinical trial', 'grant': 'funded project', 'pubmed': 'publication'} + full_msg = '' + html = '' + + full_msg += 'You have {num} new entries for your subscribed rare diseases in the {db_title} database\nOut of that {num},\n\n'.format(num=data['total'], db_title=txt_db[type]) + + html += """ + + + + +
+

Rare Disease Alert System

+
+
+

{name}

+

Within the last week, {num} new entries for your subscribed rare diseases have been added to the {db_title} database

+ + + + + + + """.format(num=data['total'],images_path=sysvars.images_path,db_title=txt_db[type],name=data['name']) + + for gard in data['subscriptions']: + if data[gard]['num'] > 0: + full_msg += '{name} [{gardId}] - {num} new additions have been added to the database\n'.format(name=data[gard]['name'], num=data[gard]['num'], gardId=gard) + html += """ + + + + + + """.format(name=data[gard]['name'], num=data[gard]['num'], gardId=gard, tab=tabs[type]) + + html += """ +
NameGARD IDNodes Modified
{name}{gardId}{num}
+

Results gathered within the time period of {date_start}-{date_end}

+
+
+
+ Rare Disease Alert System + + + """.format(date_start=data['update_date_start'],date_end=data['update_date_end']) + + print(html) + return (full_msg,html) + +def send_mail(type, data): + print(f"[{data['total']}, {data['email']}]") + if data['total'] > 0 and data['email'] == 'timothy.sheils@ncats.nih.gov' or data['email'] == 'zhuqianzq@gmail.com': #TEST + + data['email'] = 'devon.leadman@nih.gov' # TEST EMAIL + + if type == "clinical": + txt,html = fill_template(type,data) + alert.send_email('RDAS-Alert: Clinical Trial update regarding your subscriptions', txt, data['email'], html=html) #data['email'] in place of email + print('[Email Sent...]') + + if type == "pubmed": + txt,html = fill_template(type,data) + alert.send_email('RDAS-Alert: Publication update regarding your subscriptions', txt, data['email'], html=html) + print('[Email Sent...]') + + if type == "grant": + txt,html = fill_template(type,data) + alert.send_email('RDAS-Alert: Funded Project update regarding your subscriptions', txt, data['email'], html=html) + print('[Email Sent...]') + +def get_stats(type, gards, date_start=datetime.today().strftime('%m/%d/%y'), date_end=datetime.today().strftime('%m/%d/%y')): + db = AlertCypher(type) + return_data = dict() + + date_start_string = date_start + date_end_string = date_end + date_start_obj = datetime.strptime(date_start, '%m/%d/%y') + date_end_obj = datetime.strptime(date_end, '%m/%d/%y') + + date_list = pd.date_range(date_start_obj, date_end_obj, freq='D').strftime('%m/%d/%y').to_list() + + print(f'Searching for nodes created between {date_start_string} and {date_end_string}') + + convert = {'clinical':['ClinicalTrial','GARD','GardId'], 'pubmed':['Article','GARD','GardId'], 'grant':['Project','GARD','GardId']} + connect_to_gard = {'clinical':'--(:Condition)--(:Annotation)--','pubmed':'--','grant':'--'} + + query = 'MATCH (x:{node}){connection}(y:{gardnode}) WHERE x.DateCreatedRDAS IN {date_list} AND y.{property} IN {list} RETURN COUNT(x)'.format(node=convert[type][0], gardnode=convert[type][1], property=convert[type][2], list=list(gards.keys()), date_list=date_list, connection=connect_to_gard[type]) + + response = db.run(query) + return_data['total'] = response.data()[0]['COUNT(x)'] + + for gard in gards.keys(): + response = db.run('MATCH (x:{node}){connection}(y:{gardnode}) WHERE x.DateCreatedRDAS IN {date_list} AND y.{property} = \"{gard}\" RETURN COUNT(x)'.format(node=convert[type][0], gardnode=convert[type][1], property=convert[type][2], gard=gard, date_list=date_list, connection=connect_to_gard[type])) + return_data[gard] = {'name':gards[gard],'num':response.data()[0]['COUNT(x)']} + + return_data['update_date_end'] = date_end_string + return_data['update_date_start'] = date_start_string + + return return_data + +def trigger_email(type,date_start=None,date_end=None): + convert = {'clinical':'trials', 'pubmed':'articles', 'grant':'grants'} + user_data = dict() + cred = credentials.Certificate(sysvars.firebase_key_path) + firebase_admin.initialize_app(cred) + firestore_db = firestore.client() + + firestore_docs = firestore_db.collection(u'users').stream() + + for doc in firestore_docs: + if doc.exists: + user_data[doc.id] = doc.to_dict() + else: + print('Document Doesnt Exist') + + for firestore_user, data in user_data.items(): + subscript_gard = dict() + for subscript in data['subscriptions']: + try: + if convert[type] in subscript['alerts']: + subscript_gard[subscript['gardID']] = subscript['diseaseName'] + except KeyError: + print('') + pass + users = auth.list_users() + if users: + users = users.iterate_all() + for user in users: + uid = user.uid + if uid == firestore_user and len(subscript_gard) > 0: + if not date_start and not date_end: + update_data = get_stats(type, subscript_gard) + elif date_start and date_end: + update_data = get_stats(type, subscript_gard, date_start=date_start, date_end=date_end) + elif date_start: + update_data = get_stats(type, subscript_gard, date_start=date_start) + elif date_end: + update_data = get_stats(type, subscript_gard, date_end=date_end) + + update_data['email'] = user.email + update_data['name'] = user_data[uid]['displayName'] + update_data['subscriptions'] = list(subscript_gard.keys()) + send_mail(type, update_data) + +#trigger_email(sysvars.pm_db, date_start='12/07/22') #TEST diff --git a/emails/alert.py b/emails/alert.py old mode 100644 new mode 100755 diff --git a/emails/email_template1.html b/emails/email_template1.html new file mode 100755 index 0000000..3bbb6ac --- /dev/null +++ b/emails/email_template1.html @@ -0,0 +1,32 @@ + + + + + + +

Rare Disease Alert System

+

{{ name }}

+

You have {{ data['total'] }} new entries for your subscribed rare diseases in the {{ data['db_title'] }} database

+ + + + + + + {% for gard_id in data['subscriptions'] %} + {% if data[gard_id]["num"]>0 %} + + + + + + {% endif %} + {% endfor %} +
NameGARD IDNodes Modified
{{ data[gard_id]['name'] }} {{ gard_id }}{{ data[gard_id]['num'] }}
+

Results gathered within the time period of {{ data['update_date_start'] }} - {{ data['update_date_end'] }}

+ Rare Disease Alert System + + diff --git a/emails/email_test.py b/emails/email_test.py new file mode 100755 index 0000000..bc1ae73 --- /dev/null +++ b/emails/email_test.py @@ -0,0 +1,50 @@ + +import sys + +sys.path.append('/home/aom2/RDAS') +sys.path.append('/home/aom2/RDAS/emails') +import sysvars +import smtplib +from email.mime.text import MIMEText +from email.mime.multipart import MIMEMultipart +from jinja2 import Environment, FileSystemLoader +import os + + +def send_email(subject, html, recipient): + print("sending emails to::", recipient) + sender = "" # Replace with your email + password = "" # Replace with your email password + + # Set up the email + msg = MIMEMultipart('alternative') + msg['From'] = "" + # msg['To'] = "" + msg['Subject'] = subject + + # Attach both plain text and HTML parts + # part1 = MIMEText(text, 'plain') + part2 = MIMEText(html, 'html') + # msg.attach(part1) + msg.attach(part2) + + # Send the email + server = smtplib.SMTP('', 587) # Replace with SMTP server and port + server.starttls() + server.login(sender, password) + text = msg.as_string() + server.sendmail(sender, recipient, msg.as_string()) + server.quit() + + +# def render_template(filename, data={}): +# # template_dir = "path/to/templates" +# template_dir = os.getcwd() +# env = Environment(loader=FileSystemLoader(template_dir)) +# template_path = filename # Relative to the template_dir +# template = env.get_template(template_path) +# return template.render(data=data) + +# the fill_template method was remove, becaus the generation of message was integrated into the html template. + + diff --git a/emails/ses_firebase.py b/emails/ses_firebase.py old mode 100644 new mode 100755 diff --git a/emails/test_ses_firebase.py b/emails/test_ses_firebase.py new file mode 100755 index 0000000..ecfd572 --- /dev/null +++ b/emails/test_ses_firebase.py @@ -0,0 +1,190 @@ +import glob +import os +import sys +import json +workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append(workspace) +# sys.path.append(os.getcwd()) +sys.path.append('/home/aom2/RDAS') +sys.path.append('/home/aom2/RDAS/emails') +import sysvars +from AlertCypher import AlertCypher +from datetime import date,datetime +from jinja2 import Environment, FileSystemLoader +import pandas as pd +from dateutil.relativedelta import relativedelta +import firebase_admin +from firebase_admin import auth +from firebase_admin import credentials +from firebase_admin import firestore +import alert +import email_test + + +prefix = sysvars.db_prefix # you can set the db_prefix in sysvars.py + + +def render_template(filename, data={}): + env = Environment(loader=FileSystemLoader(f'{sysvars.base_path}emails/')) + template = env.get_template(filename) + rendered_content = template.render(data=data) + return rendered_content + +def send_mail(type, data): + # Define the tabs dictionary and txt_db + tabs = {prefix +'clinical': 'trials', prefix +'grant': 'project', prefix +'pubmed': 'nonepi-articles'} + txt_db = {prefix +'clinical': 'clinical trial', prefix +'grant': 'funded project', prefix +'pubmed': 'publication'} + + # Add tabs and type to the data dictionary + data['tabs'] = tabs + data["db_title"]=str(txt_db[type]) + + if data['total'] > 0 and data['email'] == 'timothy.sheils@ncats.nih.gov' or data['email'] == 'zhuqianzq@gmail.com':# for testing + + data['email'] = 'minghui.ao@nih.gov' # TEST EMAIL + html_content = render_template('email_template1.html', data=data) + email_test.send_email(f'RDAS-Alert: {str(txt_db[type])} update regarding your subscriptions', html_content, data['email'])# change to your alert.py sending email method.you may need to adjust your method abit to read in these parameters. + print("finish sending enail") + +def get_stats(type, gards, date_start=datetime.today().strftime('%m/%d/%y'), date_end=datetime.today().strftime('%m/%d/%y')): + db = AlertCypher(type) + return_data = dict() + date_start_string = date_start + date_end_string = date_end + date_start_obj = datetime.strptime(date_start, '%m/%d/%y') + date_end_obj = datetime.strptime(date_end, '%m/%d/%y') + + date_list = pd.date_range(date_start_obj, date_end_obj, freq='D').strftime('%m/%d/%y').to_list() + + convert = {prefix+'clinical':['ClinicalTrial','GARD','GardId'], prefix+'pubmed':['Article','GARD','GardId'], prefix+'grant':['Project','GARD','GardId']} + connect_to_gard = {prefix+'clinical':'--(:Condition)--(:Annotation)--',prefix+'pubmed':'--',prefix+'grant':'--'} + + query = 'MATCH (x:{node}){connection}(y:{gardnode}) WHERE x.DateCreatedRDAS IN {date_list} AND y.{property} IN {list} RETURN COUNT(x)'.format(node=convert[type][0], gardnode=convert[type][1], property=convert[type][2], list=list(gards.keys()), date_list=date_list, connection=connect_to_gard[type]) + + response = db.run(query) + result = response.single() + return_data['total'] = result['COUNT(x)'] + + for gard in gards.keys(): + query_1='MATCH (x:{node}){connection}(y:{gardnode}) WHERE x.DateCreatedRDAS IN {date_list} AND y.{property} = \"{gard}\" RETURN COUNT(x)'.format(node=convert[type][0], gardnode=convert[type][1], property=convert[type][2], gard=gard, date_list=date_list, connection=connect_to_gard[type]) + response = db.run(query_1) + result = response.single() + return_data[gard] = {'name':gards[gard],'num':result['COUNT(x)']} + + return_data['update_date_end'] = date_end_string + return_data['update_date_start'] = date_start_string + + return return_data + + +# def trigger_email(type,date_start=None,date_end=None): +# convert = {prefix+'clinical':'trials', prefix+'pubmed':'articles', prefix+'grant':'grants'} +# user_data = dict() +# cred = credentials.Certificate(sysvars.firebase_key_path) +# firebase_admin.initialize_app(cred) +# firestore_db = firestore.client() +# firestore_docs = firestore_db.collection(u'users').stream() + +# # get user subscription data +# for doc in firestore_docs: +# if doc.exists: +# user_data[doc.id] = doc.to_dict() +# else: +# print('Document Doesnt Exist') + +# for firestore_user, data in user_data.items(): +# subscript_gard = dict() +# for subscript in data['subscriptions']: + +# if convert[type] in subscript['alerts']: +# print("user_data::", data) +# print("subscript::",subscript,"\n") + +# if 'diseaseName' not in subscript: + +# subscript_gard[subscript['gardID']] = subscript['gardID'] +# else: +# subscript_gard[subscript['gardID']] = subscript['diseaseName'] + +# # get user emails +# users = auth.list_users() + +# if users: +# users = users.iterate_all() +# for user in users: +# uid = user.uid + +# if uid == firestore_user and len(subscript_gard) > 0: + +# if not date_start and not date_end: +# update_data = get_stats(type, subscript_gard) +# elif date_start and date_end: +# update_data = get_stats(type, subscript_gard, date_start=date_start, date_end=date_end) +# elif date_start: +# update_data = get_stats(type, subscript_gard, date_start=date_start) +# elif date_end: +# update_data = get_stats(type, subscript_gard, date_end=date_end) + +# update_data['email'] = user.email +# update_data['name'] = user_data[uid].get('displayName',"") +# update_data['subscriptions'] = list(subscript_gard.keys()) +# print("update_data::",update_data) +# if update_data["total"]>0: # only send email to user if there is any updates +# send_mail(type, update_data) + + + +# the trigger_email function was rewrite to avoid the three nested for loops. +def trigger_email(firestore_db,type,date_start=None,date_end=None): + convert = {prefix+'clinical':'trials', prefix+'pubmed':'articles', prefix+'grant':'grants'} + user_data = dict() + firestore_docs = firestore_db.collection(u'users').stream() + + # get user subscription data here to avoid 3 nested for loops + for doc in firestore_docs: + if doc.exists: + user_data[doc.id] = doc.to_dict() + else: + print('Document Doesnt Exist') + + users = auth.list_users() + user_info={} + if users: + users = users.iterate_all() + for user in users: + uid = user.uid + user_info[user.uid]=user + + for firestore_user, data in user_data.items(): + subscript_gard = dict() + for subscript in data['subscriptions']: + if convert[type] in subscript['alerts']: + if 'diseaseName' not in subscript: + subscript_gard[subscript['gardID']] = "" + else: + subscript_gard[subscript['gardID']] = subscript['diseaseName'] + + # get user emails + user=user_info.get(firestore_user,None) + if user: + uid=user.uid + # print("uid == firestore_user::",uid == firestore_user,len(subscript_gard)) + if uid == firestore_user and len(subscript_gard) > 0: + + if not date_start and not date_end: + update_data = get_stats(type, subscript_gard) + elif date_start and date_end: + update_data = get_stats(type, subscript_gard, date_start=date_start, date_end=date_end) + elif date_start: + update_data = get_stats(type, subscript_gard, date_start=date_start) + elif date_end: + update_data = get_stats(type, subscript_gard, date_end=date_end) + + update_data['email'] = user.email + update_data['name'] = user_data[uid].get('displayName',"") + update_data['subscriptions'] = list(subscript_gard.keys()) + # print("update_data::",update_data) + if update_data["total"]>0: # only send email to user if there is any updates + send_mail(type, update_data) + +# trigger_email(sysvars.ct_db, date_start='12/07/22') #TEST. you can put this to the start_dev. so when there are any db upates, it will trigger emails diff --git a/etc/acronym_algorithm_detection.csv b/etc/acronym_algorithm_detection.csv old mode 100644 new mode 100755 diff --git a/etc/add_new_epi_model.py b/etc/add_new_epi_model.py old mode 100644 new mode 100755 diff --git a/etc/compare_db.py b/etc/compare_db.py old mode 100644 new mode 100755 diff --git a/etc/fda.out b/etc/fda.out old mode 100644 new mode 100755 diff --git a/etc/fda_gard_mapping_6_14_2023.csv b/etc/fda_gard_mapping_6_14_2023.csv old mode 100644 new mode 100755 diff --git a/etc/fixpubtatortext.py b/etc/fixpubtatortext.py old mode 100644 new mode 100755 diff --git a/etc/gardfix.py b/etc/gardfix.py old mode 100644 new mode 100755 diff --git a/etc/map_fda.py b/etc/map_fda.py old mode 100644 new mode 100755 diff --git a/etc/map_fda_new.py b/etc/map_fda_new.py old mode 100644 new mode 100755 diff --git a/etc/metamap_cond.py b/etc/metamap_cond.py old mode 100644 new mode 100755 diff --git a/etc/metamap_fda_out.json b/etc/metamap_fda_out.json old mode 100644 new mode 100755 diff --git a/etc/orphan_substance_public_records_6_14_2023.csv b/etc/orphan_substance_public_records_6_14_2023.csv old mode 100644 new mode 100755 diff --git a/etc/orphan_substance_public_records_6_14_2023.xlsx b/etc/orphan_substance_public_records_6_14_2023.xlsx old mode 100644 new mode 100755 diff --git a/etc/remove_article_fps.py b/etc/remove_article_fps.py old mode 100644 new mode 100755 diff --git a/etc/remove_old_trials.py b/etc/remove_old_trials.py old mode 100644 new mode 100755 diff --git a/etc/runmap.py b/etc/runmap.py old mode 100644 new mode 100755 diff --git a/etc/rxnorm_mapper.py b/etc/rxnorm_mapper.py old mode 100644 new mode 100755 diff --git a/etc/sim_match.py b/etc/sim_match.py old mode 100644 new mode 100755 diff --git a/file_transfer.py b/file_transfer.py old mode 100644 new mode 100755 diff --git a/generate_dump.py b/generate_dump.py old mode 100644 new mode 100755 diff --git a/grant_2024/init.py b/grant_2024/init.py old mode 100644 new mode 100755 diff --git a/grant_2024/methods.py b/grant_2024/methods.py old mode 100644 new mode 100755 diff --git a/grant_2024/update.py b/grant_2024/update.py old mode 100644 new mode 100755 diff --git a/img/RDAS_logo_color.png b/img/RDAS_logo_color.png old mode 100644 new mode 100755 diff --git a/img/RDAS_logo_color.svg b/img/RDAS_logo_color.svg old mode 100644 new mode 100755 diff --git a/requirements.txt b/requirements.txt old mode 100644 new mode 100755 diff --git a/start_prod.py b/start_prod.py old mode 100644 new mode 100755 diff --git a/sysvars.py b/sysvars.py index 0fefab6..43cc129 100644 --- a/sysvars.py +++ b/sysvars.py @@ -41,10 +41,10 @@ db_abbrevs2 = {ct_db:'ct', pm_db:'pm', gnt_db:'gnt'} # Paths to database creation and update source files -ct_files_path = '{base_path}RDAS.CTKG/src/'.format(base_path=base_path) -pm_files_path = '{base_path}RDAS.PAKG/src/'.format(base_path=base_path) -gnt_files_path = '{base_path}RDAS.GFKG/src/'.format(base_path=base_path) -gard_files_path = '{base_path}RDAS.GARD/src/'.format(base_path=base_path) +ct_files_path = '{base_path}RDAS_CTKG/src/'.format(base_path=base_path) +pm_files_path = '{base_path}RDAS_PAKG/src/'.format(base_path=base_path) +gnt_files_path = '{base_path}RDAS_GFKG/src/'.format(base_path=base_path) +gard_files_path = '{base_path}RDAS_GARD/src/'.format(base_path=base_path) # Database names being used on the current server convert = {ct_db:'trials', pm_db:'articles', gnt_db:'grants'} diff --git a/transfer/README.md b/transfer/README.md old mode 100644 new mode 100755